#mapping_provider: RGD
#mapping_tool: RGD SSSOM file generator
#mapping_tool_version: RGD SSSOM File Generator -- build 2024-07-24
#mapping_set_id: https://download.rgd.mcw.edu/ontology/mappings/rdo_mim_rgd.sssom.tsv.txt
#mapping_set_title: All mappings of RDO terms to MIM terms generated by RGD (draft version)
#mapping_set_description: All mappings of RDO terms to MIM terms generated by RGD (draft version)
#license: https://creativecommons.org/licenses/by/4.0/
#object_source: obo:RDO
#subject_source: obo:MIM
#curie_map:
# RDO: http://purl.obolibrary.org/obo/RDO_
# MIM: http://purl.obolibrary.org/obo/MIM_
# skos: http://www.w3.org/2004/02/skos/core#
# orcid: https://orcid.org/
# obo: http://purl.obolibrary.org/obo/
# semapv: https://w3id.org/semapv/vocab/
object_id	object_label	predicate_id	subject_id	subject_label	mapping_justification	mapping_date
DOID:0040007	abacavir allergy	skos:exactMatch	MIM:142830	{Abacavir hypersensitivity, susceptibility to}	semapv:ManualMappingCuration	2015-07-14
DOID:0050116	tinea imbricata	skos:exactMatch	MIM:275240	TINEA IMBRICATA, SUSCEPTIBILITY TO	semapv:ManualMappingCuration	2017-10-26
DOID:0050120	hemophagocytic lymphohistiocytosis	skos:exactMatch	MIM:PS267700	Hemophagocytic lymphohistiocytosis, familial, 1	semapv:ManualMappingCuration	2018-05-21
DOID:0050138	podoconiosis	skos:exactMatch	MIM:614590	{Podoconiosis, susceptibility to}	semapv:ManualMappingCuration	2022-12-12
DOID:0050156	idiopathic pulmonary fibrosis	skos:exactMatch	MIM:178500	Interstitial lung disease 2	semapv:ManualMappingCuration	2017-10-03
DOID:0050158	desquamative interstitial pneumonia	skos:exactMatch	MIM:263000	INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL	semapv:ManualMappingCuration	2017-10-03
DOID:0050159	lymphoid interstitial pneumonia	skos:exactMatch	MIM:247610	LYMPHOID INTERSTITIAL PNEUMONIA	semapv:ManualMappingCuration	2023-04-21
DOID:0050167	autoimmune polyendocrine syndrome type 1	skos:exactMatch	MIM:240300	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0050168	autoimmune polyendocrine syndrome type 2	skos:exactMatch	MIM:269200	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II	semapv:ManualMappingCuration	2018-05-21
DOID:0050328	congenital hypothyroidism	skos:exactMatch	MIM:228355	FETAL IODINE DEFICIENCY DISORDER	semapv:ManualMappingCuration	2022-11-29
DOID:0050328	congenital hypothyroidism	skos:exactMatch	MIM:PS275200	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	semapv:ManualMappingCuration	2018-06-29
DOID:0050331	lacrimoauriculodentodigital syndrome 1	skos:exactMatch	MIM:149730	LADD syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0050335	bradyopsia	skos:exactMatch	MIM:PS608415	Prolonged electroretinal response suppression 1	semapv:ManualMappingCuration	2023-05-31
DOID:0050419	complement factor I deficiency	skos:exactMatch	MIM:610984	Complement factor I deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0050424	familial adenomatous polyposis	skos:exactMatch	MIM:PS175100	Gardner syndrome	semapv:ManualMappingCuration	2019-03-20
DOID:0050425	restless legs syndrome	skos:exactMatch	MIM:610438	{Restless legs syndrome 3}	semapv:ManualMappingCuration	2017-10-03
DOID:0050425	restless legs syndrome	skos:exactMatch	MIM:610439	{Restless legs syndrome 4}	semapv:ManualMappingCuration	2017-10-03
DOID:0050425	restless legs syndrome	skos:exactMatch	MIM:611185	{Restless legs syndrome 6}	semapv:ManualMappingCuration	2017-10-03
DOID:0050425	restless legs syndrome	skos:exactMatch	MIM:611242	{Restless legs syndrome 5}	semapv:ManualMappingCuration	2017-10-03
DOID:0050425	restless legs syndrome	skos:exactMatch	MIM:612853	{Restless legs syndrome 7}	semapv:ManualMappingCuration	2017-10-03
DOID:0050425	restless legs syndrome	skos:exactMatch	MIM:615197	{Restless legs syndrome 8}	semapv:ManualMappingCuration	2018-08-21
DOID:0050425	restless legs syndrome	skos:exactMatch	MIM:PS102300	{Restless legs syndrome 1}	semapv:ManualMappingCuration	2019-03-27
DOID:0050426	Stevens-Johnson syndrome	skos:exactMatch	MIM:608579	{Stevens-Johnson syndrome, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0050429	Hailey-Hailey disease	skos:exactMatch	MIM:169600	Hailey-Hailey disease	semapv:ManualMappingCuration	2017-10-03
DOID:0050430	multiple endocrine neoplasia type 2A	skos:exactMatch	MIM:171400	Multiple endocrine neoplasia IIA	semapv:ManualMappingCuration	2017-10-03
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	skos:exactMatch	MIM:PS107970	Arrhythmogenic right ventricular dysplasia 1	semapv:ManualMappingCuration	2018-06-29
DOID:0050432	Asperger syndrome	skos:exactMatch	MIM:608631	{Asperger syndrome susceptibility 2}	semapv:ManualMappingCuration	2017-10-03
DOID:0050432	Asperger syndrome	skos:exactMatch	MIM:608638	{Asperger syndrome susceptibility 1}	semapv:ManualMappingCuration	2017-10-03
DOID:0050432	Asperger syndrome	skos:exactMatch	MIM:608781	{Asperger syndrome susceptibility 3}	semapv:ManualMappingCuration	2017-10-03
DOID:0050432	Asperger syndrome	skos:exactMatch	MIM:609954	{Asperger syndrome susceptibility 4}	semapv:ManualMappingCuration	2017-10-03
DOID:0050432	Asperger syndrome	skos:exactMatch	MIM:PS608638	{Asperger syndrome susceptibility 1}	semapv:ManualMappingCuration	2019-03-19
DOID:0050433	fatal familial insomnia	skos:exactMatch	MIM:600072	Insomnia, fatal familial	semapv:ManualMappingCuration	2017-10-03
DOID:0050434	Andersen-Tawil syndrome	skos:exactMatch	MIM:170390	Andersen syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050436	mulibrey nanism	skos:exactMatch	MIM:253250	Mulibrey nanism	semapv:ManualMappingCuration	2017-10-03
DOID:0050437	Danon disease	skos:exactMatch	MIM:300257	Danon disease	semapv:ManualMappingCuration	2017-10-03
DOID:0050438	Frasier syndrome	skos:exactMatch	MIM:136680	Frasier syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050439	Usher syndrome	skos:exactMatch	MIM:PS276900	Usher syndrome, type 1B	semapv:ManualMappingCuration	2018-04-18
DOID:0050440	familial partial lipodystrophy	skos:exactMatch	MIM:PS151660	Lipodystrophy, familial partial, type 2	semapv:ManualMappingCuration	2019-05-13
DOID:0050441	mucosulfatidosis	skos:exactMatch	MIM:272200	Multiple sulfatase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0050445	X-linked dominant hypophosphatemic rickets	skos:exactMatch	MIM:307800	Hypophosphatemic rickets, X-linked dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0050448	white sponge nevus	skos:exactMatch	MIM:PS193900	White sponge nevus 1	semapv:ManualMappingCuration	2019-03-20
DOID:0050449	pachyonychia congenita	skos:exactMatch	MIM:PS167200	Pachyonychia congenita 1	semapv:ManualMappingCuration	2019-03-26
DOID:0050450	Gitelman syndrome	skos:exactMatch	MIM:263800	Gitelman syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050451	Brugada syndrome	skos:exactMatch	MIM:PS601144	Brugada syndrome 1	semapv:ManualMappingCuration	2019-03-20
DOID:0050452	mevalonic aciduria	skos:exactMatch	MIM:610377	Mevalonic aciduria	semapv:ManualMappingCuration	2017-10-03
DOID:0050453	lissencephaly	skos:exactMatch	MIM:PS607432	Subcortical laminar heterotopia	semapv:ManualMappingCuration	2019-03-26
DOID:0050454	periventricular nodular heterotopia	skos:exactMatch	MIM:300049	Heterotopia, periventricular, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0050454	periventricular nodular heterotopia	skos:exactMatch	MIM:PS300049	Heterotopia, periventricular, 1	semapv:ManualMappingCuration	2019-03-27
DOID:0050456	Buruli ulcer disease	skos:exactMatch	MIM:610446	{Buruli ulcer, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0050458	juvenile myelomonocytic leukemia	skos:exactMatch	MIM:607785	Leukemia, juvenile myelomonocytic, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:0050460	Wolf-Hirschhorn syndrome	skos:exactMatch	MIM:194190	Wolf-Hirschhorn syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050461	aspartylglucosaminuria	skos:exactMatch	MIM:208400	Aspartylglucosaminuria	semapv:ManualMappingCuration	2017-10-03
DOID:0050462	Antley-Bixler syndrome with disordered steroidogenesis	skos:exactMatch	MIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	semapv:ManualMappingCuration	2017-10-03
DOID:0050463	campomelic dysplasia	skos:exactMatch	MIM:114290	Acampomelic campomelic dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0050464	Farber lipogranulomatosis	skos:exactMatch	MIM:228000	Farber lipogranulomatosis	semapv:ManualMappingCuration	2017-10-03
DOID:0050465	Muir-Torre syndrome	skos:exactMatch	MIM:158320	Muir-Torre syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050466	Loeys-Dietz syndrome	skos:exactMatch	MIM:PS609192	Loeys-Dietz syndrome 1	semapv:ManualMappingCuration	2019-03-15
DOID:0050467	erythrokeratodermia variabilis	skos:exactMatch	MIM:PS133200	Erythrokeratodermia variabilis et progressiva 1	semapv:ManualMappingCuration	2019-03-26
DOID:0050468	yellow nail syndrome	skos:exactMatch	MIM:153300	YELLOW NAIL SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:0050469	Costello syndrome	skos:exactMatch	MIM:218040	Congenital myopathy with excess of muscle spindles	semapv:ManualMappingCuration	2017-10-03
DOID:0050470	Donohue syndrome	skos:exactMatch	MIM:246200	Donohue syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050471	Carney complex	skos:exactMatch	MIM:160980	Carney complex, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0050471	Carney complex	skos:exactMatch	MIM:605244	Carney complex, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0050472	monilethrix	skos:exactMatch	MIM:158000	Monilethrix	semapv:ManualMappingCuration	2017-10-03
DOID:0050473	Alstrom syndrome	skos:exactMatch	MIM:203800	Alstrom syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050474	Netherton syndrome	skos:exactMatch	MIM:256500	Netherton syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050475	Weill-Marchesani syndrome	skos:exactMatch	MIM:PS277600	Weill-Marchesani syndrome 1, recessive	semapv:ManualMappingCuration	2019-03-27
DOID:0050476	Barth syndrome	skos:exactMatch	MIM:302060	Barth syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050477	Liddle syndrome	skos:exactMatch	MIM:PS177200	Liddle syndrome 1	semapv:ManualMappingCuration	2019-03-19
DOID:0050489	multinodular goiter	skos:exactMatch	MIM:PS138800	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	semapv:ManualMappingCuration	2019-03-27
DOID:0050524	maturity-onset diabetes of the young	skos:exactMatch	MIM:606391	MATURITY-ONSET DIABETES OF THE YOUNG	semapv:ManualMappingCuration	2017-10-03
DOID:0050526	Gamstorp-Wohlfart syndrome	skos:exactMatch	MIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	semapv:ManualMappingCuration	2014-10-20
DOID:0050528	nonphotosensitive trichothiodystrophy 4	skos:exactMatch	MIM:234050	Trichothiodystrophy 4, nonphotosensitive	semapv:ManualMappingCuration	2017-10-03
DOID:0050529	adult spinal muscular atrophy	skos:exactMatch	MIM:271150	Spinal muscular atrophy-4	semapv:ManualMappingCuration	2017-10-03
DOID:0050530	intermediate spinal muscular atrophy	skos:exactMatch	MIM:253550	Spinal muscular atrophy-2	semapv:ManualMappingCuration	2018-07-31
DOID:0050534	congenital stationary night blindness	skos:exactMatch	MIM:PS310500	Night blindness, congenital stationary (complete), 1A, X-linked	semapv:ManualMappingCuration	2018-06-29
DOID:0050535	exudative vitreoretinopathy	skos:exactMatch	MIM:PS133780	Retinopathy of prematurity	semapv:ManualMappingCuration	2019-03-26
DOID:0050540	Charcot-Marie-Tooth disease type 3	skos:exactMatch	MIM:145900	Dejerine-Sottas disease	semapv:ManualMappingCuration	2017-10-18
DOID:0050544	hypermethioninemia	skos:exactMatch	MIM:250850	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency	semapv:ManualMappingCuration	2015-12-14
DOID:0050545	visceral heterotaxy	skos:exactMatch	MIM:208530	Right atrial isomerism (Ivemark)	semapv:ManualMappingCuration	2017-10-03
DOID:0050545	visceral heterotaxy	skos:exactMatch	MIM:PS306955	Congenital heart defects, nonsyndromic, 1, X-linked	semapv:ManualMappingCuration	2019-03-21
DOID:0050546	congenital adrenal insufficiency	skos:exactMatch	MIM:613743	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	semapv:ManualMappingCuration	2014-10-20
DOID:0050547	familial medullary thyroid carcinoma	skos:exactMatch	MIM:155240	Medullary thyroid carcinoma	semapv:ManualMappingCuration	2017-10-03
DOID:0050548	hereditary sensory neuropathy	skos:exactMatch	MIM:PS162400	Neuropathy, hereditary sensory and autonomic, type IA	semapv:ManualMappingCuration	2018-06-29
DOID:0050553	proteasome-associated autoinflammatory syndrome 1	skos:exactMatch	MIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	semapv:ManualMappingCuration	2014-09-02
DOID:0050554	X-linked sideroblastic anemia with ataxia	skos:exactMatch	MIM:301310	Anemia, sideroblastic, with ataxia	semapv:ManualMappingCuration	2017-10-03
DOID:0050558	Ullrich congenital muscular dystrophy	skos:exactMatch	MIM:PS254090	Ullrich congenital muscular dystrophy 1A	semapv:ManualMappingCuration	2019-03-27
DOID:0050559	Fukuyama congenital muscular dystrophy	skos:exactMatch	MIM:253800	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	semapv:ManualMappingCuration	2017-07-25
DOID:0050561	Lennox-Gastaut syndrome	skos:exactMatch	MIM:606369	MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY	semapv:ManualMappingCuration	2017-10-03
DOID:0050564	autosomal dominant nonsyndromic deafness	skos:exactMatch	MIM:PS124900	Deafness, autosomal dominant 1, with or without thrombocytopenia	semapv:ManualMappingCuration	2018-06-29
DOID:0050565	autosomal recessive nonsyndromic deafness	skos:exactMatch	MIM:607197	DEAFNESS, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	2018-08-21
DOID:0050565	autosomal recessive nonsyndromic deafness	skos:exactMatch	MIM:PS220290	Deafness, digenic, GJB2/GJB3	semapv:ManualMappingCuration	2018-06-29
DOID:0050566	X-linked nonsyndromic deafness	skos:exactMatch	MIM:PS304500	Deafness, X-linked 1	semapv:ManualMappingCuration	2018-10-11
DOID:0050567	orofacial cleft	skos:exactMatch	MIM:PS119530	Orofacial cleft-1	semapv:ManualMappingCuration	2019-03-27
DOID:0050568	spondylocostal dysostosis	skos:exactMatch	MIM:PS277300	Spondylocostal dysostosis 1, autosomal recessive	semapv:ManualMappingCuration	2019-03-27
DOID:0050569	Seckel syndrome	skos:exactMatch	MIM:PS210600	Seckel syndrome 1	semapv:ManualMappingCuration	2018-06-29
DOID:0050570	congenital disorder of glycosylation type I	skos:exactMatch	MIM:PS212065	Congenital disorder of glycosylation, type Ia	semapv:ManualMappingCuration	2018-06-29
DOID:0050571	congenital disorder of glycosylation type II	skos:exactMatch	MIM:PS212066	Congenital disorder of glycosylation, type IIa	semapv:ManualMappingCuration	2019-02-25
DOID:0050572	cone-rod dystrophy	skos:exactMatch	MIM:PS120970	Cone-rod retinal dystrophy-2	semapv:ManualMappingCuration	2019-03-27
DOID:0050574	L-2-hydroxyglutaric aciduria	skos:exactMatch	MIM:236792	L-2-hydroxyglutaric aciduria	semapv:ManualMappingCuration	2018-03-07
DOID:0050575	D-2-hydroxyglutaric aciduria	skos:exactMatch	MIM:PS600721	D-2-hydroxyglutaric aciduria	semapv:ManualMappingCuration	2019-03-27
DOID:0050576	Senior-Loken syndrome	skos:exactMatch	MIM:PS266900	Senior-Loken syndrome-1	semapv:ManualMappingCuration	2019-03-26
DOID:0050577	cranioectodermal dysplasia	skos:exactMatch	MIM:PS218330	Cranioectodermal dysplasia 1	semapv:ManualMappingCuration	2019-03-21
DOID:0050578	occult macular dystrophy	skos:exactMatch	MIM:613587	Occult macular dystrophy	semapv:ManualMappingCuration	2014-06-23
DOID:0050579	glycogen storage disease XV	skos:exactMatch	MIM:613507	?Glycogen storage disease XV	semapv:ManualMappingCuration	2014-06-23
DOID:0050580	hereditary lymphedema	skos:exactMatch	MIM:PS153100	Lymphatic malformation 1	semapv:ManualMappingCuration	2019-02-25
DOID:0050585	congenital generalized lipodystrophy	skos:exactMatch	MIM:PS608594	Lipodystrophy, congenital generalized, type 1	semapv:ManualMappingCuration	2018-05-22
DOID:0050587	trichotillomania	skos:exactMatch	MIM:613229	?Trichotillomania	semapv:ManualMappingCuration	2017-10-03
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1	skos:exactMatch	MIM:613155	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1	semapv:ManualMappingCuration	2014-06-23
DOID:0050589	inflammatory bowel disease	skos:exactMatch	MIM:PS266600	{Crohn disease-associated growth failure}	semapv:ManualMappingCuration	2018-06-29
DOID:0050589	inflammatory bowel disease	skos:exactMatch	MIM:PS614328	?Inflammatory skin and bowel disease, neonatal, 1	semapv:ManualMappingCuration	2019-03-27
DOID:0050590	severe congenital neutropenia	skos:exactMatch	MIM:PS202700	Neutropenia, severe congenital 1, autosomal dominant	semapv:ManualMappingCuration	2019-03-27
DOID:0050591	tooth agenesis	skos:exactMatch	MIM:147330	INCISORS, LOWER CENTRAL, ABSENCE OF	semapv:ManualMappingCuration	2022-11-29
DOID:0050591	tooth agenesis	skos:exactMatch	MIM:PS106600	Tooth agenesis, selective, 1, with or without orofacial cleft	semapv:ManualMappingCuration	2019-03-15
DOID:0050592	asphyxiating thoracic dystrophy	skos:exactMatch	MIM:PS208500	Short-rib thoracic dysplasia 1 with or without polydactyly	semapv:ManualMappingCuration	2018-06-29
DOID:0050600	ABCD syndrome	skos:exactMatch	MIM:600501	?ABCD syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050601	ADULT syndrome	skos:exactMatch	MIM:103285	ADULT syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050602	triple-A syndrome	skos:exactMatch	MIM:231550	Achalasia-addisonianism-alacrimia syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050603	acheiropody	skos:exactMatch	MIM:200500	Acheiropody	semapv:ManualMappingCuration	2017-10-03
DOID:0050604	acrocapitofemoral dysplasia	skos:exactMatch	MIM:607778	Acrocapitofemoral dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0050605	acrodermatitis enteropathica	skos:exactMatch	MIM:201100	Acrodermatitis enteropathica	semapv:ManualMappingCuration	2017-10-03
DOID:0050606	acrokeratosis verruciformis	skos:exactMatch	MIM:101900	Acrokeratosis verruciformis	semapv:ManualMappingCuration	2018-08-06
DOID:0050628	advanced sleep phase syndrome	skos:exactMatch	MIM:PS604348	?Advanced sleep phase syndrome, familial, 1	semapv:ManualMappingCuration	2018-06-29
DOID:0050629	Aicardi-Goutieres syndrome	skos:exactMatch	MIM:PS225750	Aicardi-Goutieres syndrome 1, dominant and recessive	semapv:ManualMappingCuration	2019-03-19
DOID:0050630	Aland Island eye disease	skos:exactMatch	MIM:300600	Aland Island eye disease	semapv:ManualMappingCuration	2017-10-03
DOID:0050631	Allan-Herndon-Dudley syndrome	skos:exactMatch	MIM:300523	Allan-Herndon-Dudley syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050632	oculocutaneous albinism	skos:exactMatch	MIM:PS203100	Albinism, oculocutaneous, type IA	semapv:ManualMappingCuration	2019-03-19
DOID:0050633	ocular albinism 1	skos:exactMatch	MIM:300500	Ocular albinism, type I, Nettleship-Falls type	semapv:ManualMappingCuration	2017-10-03
DOID:0050634	alopecia universalis	skos:exactMatch	MIM:203655	Alopecia universalis	semapv:ManualMappingCuration	2017-10-03
DOID:0050635	alternating hemiplegia of childhood	skos:exactMatch	MIM:PS104290	Alternating hemiplegia of childhood 1	semapv:ManualMappingCuration	2019-03-19
DOID:0050636	familial visceral amyloidosis	skos:exactMatch	MIM:105200	Amyloidosis, hereditary systemic 2	semapv:ManualMappingCuration	2017-10-03
DOID:0050637	Finnish type amyloidosis	skos:exactMatch	MIM:105120	Amyloidosis, Finnish type	semapv:ManualMappingCuration	2017-10-03
DOID:0050638	transthyretin amyloidosis	skos:exactMatch	MIM:105210	Amyloidosis, hereditary, transthyretin-related	semapv:ManualMappingCuration	2017-10-03
DOID:0050639	primary cutaneous amyloidosis	skos:exactMatch	MIM:PS105250	Amyloidosis, primary localized cutaneous, 1	semapv:ManualMappingCuration	2019-03-26
DOID:0050640	anauxetic dysplasia 1	skos:exactMatch	MIM:607095	Anauxetic dysplasia 1	semapv:ManualMappingCuration	2017-10-03
DOID:0050641	Rh deficiency syndrome	skos:exactMatch	MIM:268150	Anemia, hemolytic, Rh-null, regulator type	semapv:ManualMappingCuration	2017-10-03
DOID:0050644	arterial calcification of infancy	skos:exactMatch	MIM:PS208000	Arterial calcification, generalized, of infancy, 1	semapv:ManualMappingCuration	2019-03-15
DOID:0050645	arterial tortuosity syndrome	skos:exactMatch	MIM:208050	Arterial tortuosity syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050646	distal arthrogryposis	skos:exactMatch	MIM:PS108120	Arthrogryposis, distal, type 1A	semapv:ManualMappingCuration	2019-07-03
DOID:0050647	Arts syndrome	skos:exactMatch	MIM:301835	Arts syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050648	atelosteogenesis	skos:exactMatch	MIM:PS108720	Atelosteogenesis, type I	semapv:ManualMappingCuration	2019-03-19
DOID:0050649	atransferrinemia	skos:exactMatch	MIM:209300	Atransferrinemia	semapv:ManualMappingCuration	2017-10-03
DOID:0050650	familial atrial fibrillation	skos:exactMatch	MIM:PS608583	Atrial fibrillation, familial, 1	semapv:ManualMappingCuration	2019-03-15
DOID:0050651	atrioventricular septal defect	skos:exactMatch	MIM:606215	{Atrioventricular septal defect, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:0050651	atrioventricular septal defect	skos:exactMatch	MIM:PS606215	{Atrioventricular septal defect, susceptibility to, 1}	semapv:ManualMappingCuration	2019-03-26
DOID:0050654	Baller-Gerold syndrome	skos:exactMatch	MIM:218600	Baller-Gerold syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050655	Bamforth-Lazarus syndrome	skos:exactMatch	MIM:241850	Bamforth-Lazarus syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050656	pseudo-TORCH syndrome 1	skos:exactMatch	MIM:251290	Pseudo-TORCH syndrome 1	semapv:ManualMappingCuration	2014-06-23
DOID:0050657	Bannayan-Riley-Ruvalcaba syndrome	skos:exactMatch	MIM:158350	Lhermitte-Duclos disease	semapv:ManualMappingCuration	2018-08-23
DOID:0050658	Bart-Pumphrey syndrome	skos:exactMatch	MIM:149200	Bart-Pumphrey syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050659	biotin-responsive basal ganglia disease	skos:exactMatch	MIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)	semapv:ManualMappingCuration	2017-10-03
DOID:0050660	Beare-Stevenson cutis gyrata syndrome	skos:exactMatch	MIM:123790	Beare-Stevenson cutis gyrata syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050661	vitelliform macular dystrophy	skos:exactMatch	MIM:PS153840	MACULAR DYSTROPHY, VITELLIFORM, 1	semapv:ManualMappingCuration	2019-03-19
DOID:0050662	bestrophinopathy	skos:exactMatch	MIM:611809	Bestrophinopathy, autosomal recessive	semapv:ManualMappingCuration	2014-06-23
DOID:0050663	Bethlem myopathy	skos:exactMatch	MIM:PS158810	Bethlem myopathy 1A	semapv:ManualMappingCuration	2019-03-27
DOID:0050664	Bietti crystalline corneoretinal dystrophy	skos:exactMatch	MIM:210370	Bietti crystalline corneoretinal dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0050670	ataxic cerebral palsy	skos:exactMatch	MIM:605388	Cerebral palsy, ataxic, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0050674	congenital bile acid synthesis defect	skos:exactMatch	MIM:PS607765	Bile acid synthesis defect, congenital, 1	semapv:ManualMappingCuration	2019-03-27
DOID:0050675	Birk-Barel syndrome	skos:exactMatch	MIM:612292	Birk-Barel syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050676	Birt-Hogg-Dube syndrome	skos:exactMatch	MIM:135150	Birt-Hogg-Dube syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050676	Birt-Hogg-Dube syndrome	skos:exactMatch	MIM:620459	?Birt-Hogg-Dube syndrome 2	semapv:ManualMappingCuration	2023-08-01
DOID:0050677	Bjornstad syndrome	skos:exactMatch	MIM:262000	Bjornstad syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050678	Blau syndrome	skos:exactMatch	MIM:186580	Blau syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050679	blue cone monochromacy	skos:exactMatch	MIM:303700	Blue cone monochromacy	semapv:ManualMappingCuration	2017-10-03
DOID:0050680	Boomerang dysplasia	skos:exactMatch	MIM:112310	Boomerang dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0050681	Borjeson-Forssman-Lehmann syndrome	skos:exactMatch	MIM:301900	Borjeson-Forssman-Lehmann syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050682	Athabaskan brainstem dysgenesis syndrome	skos:exactMatch	MIM:601536	Athabaskan brainstem dysgenesis syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050683	Bothnia retinal dystrophy	skos:exactMatch	MIM:607475	Bothnia retinal dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0050684	Bowen-Conradi syndrome	skos:exactMatch	MIM:211180	Bowen-Conradi syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050685	small cell carcinoma	skos:exactMatch	MIM:182280	Small-cell cancer of lung	semapv:ManualMappingCuration	2017-10-03
DOID:0050689	brachydactyly-syndactyly syndrome	skos:exactMatch	MIM:610713	?Brachydactyly-syndactyly syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050691	branchiooculofacial syndrome	skos:exactMatch	MIM:113620	Branchiooculofacial syndrome	semapv:ManualMappingCuration	2018-07-20
DOID:0050692	Brody myopathy	skos:exactMatch	MIM:601003	Brody myopathy	semapv:ManualMappingCuration	2017-10-03
DOID:0050693	Brooke-Spiegler syndrome	skos:exactMatch	MIM:132700	Cylindromatosis, familial	semapv:ManualMappingCuration	2017-10-03
DOID:0050693	Brooke-Spiegler syndrome	skos:exactMatch	MIM:601606	Trichoepithelioma, multiple familial, 1	semapv:ManualMappingCuration	2015-12-10
DOID:0050693	Brooke-Spiegler syndrome	skos:exactMatch	MIM:605041	Brooke-Spiegler syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050694	Brown-Vialetto-Van Laere syndrome	skos:exactMatch	MIM:PS211530	Brown-Vialetto-Van Laere syndrome 1	semapv:ManualMappingCuration	2019-03-15
DOID:0050699	Dent disease	skos:exactMatch	MIM:PS300009	Dent disease 1	semapv:ManualMappingCuration	2019-03-27
DOID:0050710	3-methylcrotonyl-CoA carboxylase deficiency	skos:exactMatch	MIM:PS210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	semapv:ManualMappingCuration	2019-03-15
DOID:0050711	aceruloplasminemia	skos:exactMatch	MIM:604290	Aceruloplasminemia	semapv:ManualMappingCuration	2017-10-03
DOID:0050712	AGAT deficiency	skos:exactMatch	MIM:612718	Cerebral creatine deficiency syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:0050715	methylmalonic aciduria and homocystinuria type cblC	skos:exactMatch	MIM:277400	Methylmalonic aciduria and homocystinuria, cblC type	semapv:ManualMappingCuration	2017-10-03
DOID:0050716	methylmalonic aciduria and homocystinuria type cblD	skos:exactMatch	MIM:277410	Methylmalonic aciduria and homocystinuria, cblD type	semapv:ManualMappingCuration	2017-10-03
DOID:0050717	methylmalonic aciduria and homocystinuria type cblF	skos:exactMatch	MIM:277380	Methylmalonic aciduria and homocystinuria, cblF type	semapv:ManualMappingCuration	2017-10-03
DOID:0050719	cerebral folate receptor alpha deficiency	skos:exactMatch	MIM:613068	Neurodegeneration due to cerebral folate transport deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0050720	ornithine translocase deficiency	skos:exactMatch	MIM:238970	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050721	serine deficiency	skos:exactMatch	MIM:PS256520	Neu-Laxova syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:0050722	PHGDH deficiency	skos:exactMatch	MIM:601815	Phosphoglycerate dehydrogenase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0050723	PSAT deficiency	skos:exactMatch	MIM:610992	Phosphoserine aminotransferase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0050724	PSPH deficiency	skos:exactMatch	MIM:614023	Phosphoserine phosphatase deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:0050725	tyrosinemia type II	skos:exactMatch	MIM:276600	Tyrosinemia, type II	semapv:ManualMappingCuration	2018-02-14
DOID:0050726	tyrosinemia type I	skos:exactMatch	MIM:276700	Tyrosinemia, type I	semapv:ManualMappingCuration	2018-04-21
DOID:0050727	tyrosinemia type III	skos:exactMatch	MIM:276710	Tyrosinemia, type III	semapv:ManualMappingCuration	2018-07-25
DOID:0050729	Chanarin-Dorfman syndrome	skos:exactMatch	MIM:275630	Chanarin-Dorfman syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050730	coenzyme Q10 deficiency disease	skos:exactMatch	MIM:PS607426	Coenzyme Q10 deficiency, primary, 1	semapv:ManualMappingCuration	2019-03-19
DOID:0050731	vitamin B12 deficiency	skos:exactMatch	MIM:612542	{Vitamin B12 plasma level QTL1}	semapv:ManualMappingCuration	2018-09-28
DOID:0050733	methylmalonic aciduria and homocystinuria type cblG	skos:exactMatch	MIM:250940	Homocystinuria-megaloblastic anemia, cblG complementation type	semapv:ManualMappingCuration	2017-10-03
DOID:0050734	congenital intrinsic factor deficiency	skos:exactMatch	MIM:261000	Intrinsic factor deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0050740	Qazi Markouizos syndrome	skos:exactMatch	MIM:600096	PUERTO RICAN INFANT HYPOTONIA SYNDROME	semapv:ManualMappingCuration	2018-08-21
DOID:0050741	alcohol dependence	skos:exactMatch	MIM:103780	{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}	semapv:ManualMappingCuration	2023-10-20
DOID:0050742	nicotine dependence	skos:exactMatch	MIM:188890	{Nicotine addiction, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:0050752	amyotrophic lateral sclerosis type 8	skos:exactMatch	MIM:608627	Amyotrophic lateral sclerosis 8	semapv:ManualMappingCuration	2017-10-03
DOID:0050754	ataxia with oculomotor apraxia type 1	skos:exactMatch	MIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	semapv:ManualMappingCuration	2017-10-03
DOID:0050755	spinocerebellar ataxia with axonal neuropathy 2	skos:exactMatch	MIM:606002	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	semapv:ManualMappingCuration	2017-10-03
DOID:0050757	deafness-dystonia-optic neuronopathy syndrome	skos:exactMatch	MIM:304700	Mohr-Tranebjaerg syndrome	semapv:ManualMappingCuration	2018-06-12
DOID:0050759	myotonic dystrophy type 2	skos:exactMatch	MIM:602668	Myotonic dystrophy 2	semapv:ManualMappingCuration	2018-05-23
DOID:0050760	X-linked myopathy with excessive autophagy	skos:exactMatch	MIM:310440	Myopathy, X-linked, with excessive autophagy	semapv:ManualMappingCuration	2017-10-03
DOID:0050762	adenylosuccinase lyase deficiency	skos:exactMatch	MIM:103050	Adenylosuccinase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0050763	ARC syndrome	skos:exactMatch	MIM:PS208085	Arthrogryposis, renal dysfunction, and cholestasis 1	semapv:ManualMappingCuration	2018-10-11
DOID:0050764	Armfield syndrome	skos:exactMatch	MIM:300261	Intellectual developmental disorder, X-linked syndromic, Armfield type	semapv:ManualMappingCuration	2017-10-03
DOID:0050766	choreaacanthocytosis	skos:exactMatch	MIM:200150	Choreoacanthocytosis	semapv:ManualMappingCuration	2018-07-20
DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1	skos:exactMatch	MIM:604273	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	semapv:ManualMappingCuration	2014-06-23
DOID:0050769	N syndrome	skos:exactMatch	MIM:310465	N SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:0050770	polycystic liver disease	skos:exactMatch	MIM:PS174050	Polycystic liver disease 1	semapv:ManualMappingCuration	2019-03-20
DOID:0050771	pheochromocytoma	skos:exactMatch	MIM:171300	{Pheochromocytoma, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0050772	spastic ataxia 1	skos:exactMatch	MIM:108600	Spastic ataxia 1, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0050773	paraganglioma	skos:exactMatch	MIM:PS168000	Pheochromocytoma/paraganglioma syndrome 1	semapv:ManualMappingCuration	2018-10-11
DOID:0050774	rapadilino syndrome	skos:exactMatch	MIM:266280	RAPADILINO syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050775	schneckenbecken dysplasia	skos:exactMatch	MIM:269250	Schneckenbecken dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0050776	non-syndromic X-linked intellectual disability	skos:exactMatch	MIM:PS309530	Intellectual developmental disorder, X-linked 1	semapv:ManualMappingCuration	2019-03-27
DOID:0050777	Joubert syndrome	skos:exactMatch	MIM:PS213300	Joubert syndrome 1	semapv:ManualMappingCuration	2018-06-27
DOID:0050778	Meckel syndrome	skos:exactMatch	MIM:PS249000	Meckel syndrome 1	semapv:ManualMappingCuration	2019-03-19
DOID:0050779	hydrolethalus syndrome	skos:exactMatch	MIM:PS236680	Hydrolethalus syndrome	semapv:ManualMappingCuration	2019-03-15
DOID:0050781	Ogden syndrome	skos:exactMatch	MIM:300855	Ogden syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:0050787	juvenile polyposis syndrome	skos:exactMatch	MIM:174900	Polyposis, juvenile intestinal	semapv:ManualMappingCuration	2017-10-03
DOID:0050788	proximal symphalangism	skos:exactMatch	MIM:PS185800	Symphalangism, proximal, 1A	semapv:ManualMappingCuration	2019-03-27
DOID:0050789	tarsal-carpal coalition syndrome	skos:exactMatch	MIM:186570	Tarsal-carpal coalition syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050790	fibular hypoplasia and complex brachydactyly	skos:exactMatch	MIM:228900	Acromesomelic dysplasia 2B	semapv:ManualMappingCuration	2017-10-03
DOID:0050791	persistent Mullerian duct syndrome	skos:exactMatch	MIM:261550	Persistent Mullerian duct syndrome, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0050792	multiple cutaneous and mucosal venous malformations	skos:exactMatch	MIM:600195	Venous malformations, multiple cutaneous and mucosal	semapv:ManualMappingCuration	2017-10-03
DOID:0050793	short QT syndrome	skos:exactMatch	MIM:PS609620	Short QT syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:0050794	multiple synostoses syndrome	skos:exactMatch	MIM:PS186500	Multiple synostoses syndrome 1	semapv:ManualMappingCuration	2019-03-20
DOID:0050796	achalasia microcephaly syndrome	skos:exactMatch	MIM:200450	ACHALASIA-MICROCEPHALY SYNDROME	semapv:ManualMappingCuration	2018-06-23
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency	skos:exactMatch	MIM:264470	Peroxisomal acyl-CoA oxidase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0050798	cerebral creatine deficiency syndrome	skos:exactMatch	MIM:PS300352	Cerebral creatine deficiency syndrome 1	semapv:ManualMappingCuration	2019-03-26
DOID:0050799	guanidinoacetate methyltransferase deficiency	skos:exactMatch	MIM:612736	Cerebral creatine deficiency syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0050800	cerebral creatine deficiency syndrome 1	skos:exactMatch	MIM:300352	Cerebral creatine deficiency syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2	skos:exactMatch	MIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	semapv:ManualMappingCuration	2014-09-09
DOID:0050807	Kahrizi syndrome	skos:exactMatch	MIM:612713	Kahrizi syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050809	mucopolysaccharidosis IX	skos:exactMatch	MIM:601492	Mucopolysaccharidosis type IX	semapv:ManualMappingCuration	2017-10-03
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type	skos:exactMatch	MIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	semapv:ManualMappingCuration	2017-10-03
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations	skos:exactMatch	MIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	semapv:ManualMappingCuration	2014-06-23
DOID:0050814	temtamy preaxial brachydactyly syndrome	skos:exactMatch	MIM:605282	Temtamy preaxial brachydactyly syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0050816	urofacial syndrome	skos:exactMatch	MIM:PS236730	Urofacial syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:0050818	transcobalamin II deficiency	skos:exactMatch	MIM:275350	Transcobalamin II deficiency	semapv:ManualMappingCuration	2014-06-23
DOID:0050828	artery disease	skos:exactMatch	MIM:108000	ARTERIES, ANOMALIES OF	semapv:ManualMappingCuration	2022-11-29
DOID:0050831	familial encephalopathy with neuroserpin inclusion bodies	skos:exactMatch	MIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	semapv:ManualMappingCuration	2017-10-03
DOID:0050833	orotic aciduria	skos:exactMatch	MIM:258900	Orotic aciduria	semapv:ManualMappingCuration	2017-10-03
DOID:0050834	CHARGE syndrome	skos:exactMatch	MIM:214800	CHARGE syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050836	focal dystonia	skos:exactMatch	MIM:611284	DYSTONIA, FOCAL, TASK-SPECIFIC	semapv:ManualMappingCuration	2022-12-12
DOID:0050848	obstructive sleep apnea	skos:exactMatch	MIM:107650	APNEA, OBSTRUCTIVE SLEEP	semapv:ManualMappingCuration	2018-08-21
DOID:0050854	Muckle-Wells syndrome	skos:exactMatch	MIM:191900	Muckle-Wells syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0050857	Perrault syndrome	skos:exactMatch	MIM:PS233400	Perrault syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:0050858	Marshall-Smith syndrome	skos:exactMatch	MIM:602535	Marshall-Smith syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0050864	non-arteritic anterior ischemic optic neuropathy	skos:exactMatch	MIM:258660	{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:0050873	follicular lymphoma	skos:exactMatch	MIM:613024	{Follicular lymphoma, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:0050877	pancreatic agenesis	skos:exactMatch	MIM:PS260370	Pancreatic agenesis 1	semapv:ManualMappingCuration	2020-02-14
DOID:0050879	fragile X-associated tremor/ataxia syndrome	skos:exactMatch	MIM:300623	Fragile X tremor/ataxia syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050880	Koolen de Vries syndrome	skos:exactMatch	MIM:610443	Koolen-De Vries syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	skos:exactMatch	MIM:PS167320	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	semapv:ManualMappingCuration	2019-03-20
DOID:0050882	spinocerebellar ataxia type 5	skos:exactMatch	MIM:600224	Spinocerebellar ataxia 5	semapv:ManualMappingCuration	2018-01-09
DOID:0050883	infantile cerebellar-retinal degeneration	skos:exactMatch	MIM:614559	Infantile cerebellar-retinal degeneration	semapv:ManualMappingCuration	2014-09-09
DOID:0050884	triosephosphate isomerase deficiency	skos:exactMatch	MIM:615512	Hemolytic anemia due to triosephosphate isomerase deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:0050885	IMAGe syndrome	skos:exactMatch	MIM:202155	ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE	semapv:ManualMappingCuration	2022-12-06
DOID:0050885	IMAGe syndrome	skos:exactMatch	MIM:614732	IMAGE syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050886	Troyer syndrome	skos:exactMatch	MIM:275900	Troyer syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050887	Townes-Brocks syndrome	skos:exactMatch	MIM:107480	Townes-Brocks branchiootorenal-like syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050887	Townes-Brocks syndrome	skos:exactMatch	MIM:PS107480	Townes-Brocks branchiootorenal-like syndrome	semapv:ManualMappingCuration	2019-03-27
DOID:0050902	medulloblastoma	skos:exactMatch	MIM:155255	Medulloblastoma, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:0050908	myelodysplastic syndrome	skos:exactMatch	MIM:614286	Myelodysplastic syndrome, somatic	semapv:ManualMappingCuration	2014-10-20
DOID:0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue	skos:exactMatch	MIM:137245	Lymphoma, MALT, somatic	semapv:ManualMappingCuration	2018-05-22
DOID:0050941	spastic ataxia 2	skos:exactMatch	MIM:611302	Spastic ataxia 2, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0050942	spastic ataxia 3	skos:exactMatch	MIM:611390	Spastic ataxia 3, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0050943	spastic ataxia 4	skos:exactMatch	MIM:613672	?Spastic ataxia 4, autosomal recessive	semapv:ManualMappingCuration	2014-06-23
DOID:0050944	spastic ataxia 5	skos:exactMatch	MIM:614487	Spastic ataxia 5, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0050945	spastic ataxia 7	skos:exactMatch	MIM:108650	SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2018-04-21
DOID:0050946	Charlevoix-Saguenay spastic ataxia	skos:exactMatch	MIM:270550	Spastic ataxia, Charlevoix-Saguenay type	semapv:ManualMappingCuration	2017-10-03
DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria	skos:exactMatch	MIM:241530	Hypophosphatemic rickets with hypercalciuria	semapv:ManualMappingCuration	2017-10-03
DOID:0050948	autosomal dominant hypophosphatemic rickets	skos:exactMatch	MIM:193100	Hypophosphatemic rickets, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0050950	autosomal recessive cerebellar ataxia	skos:exactMatch	MIM:PS213200	Spinocerebellar ataxia, autosomal recessive 2	semapv:ManualMappingCuration	2019-04-18
DOID:0050952	spastic ataxia	skos:exactMatch	MIM:PS108600	Spastic ataxia 1, autosomal dominant	semapv:ManualMappingCuration	2019-03-19
DOID:0050954	spinocerebellar ataxia type 1	skos:exactMatch	MIM:164400	Spinocerebellar ataxia 1	semapv:ManualMappingCuration	2018-07-20
DOID:0050955	spinocerebellar ataxia type 2	skos:exactMatch	MIM:183090	{Amyotrophic lateral sclerosis, susceptibility to, 13}	semapv:ManualMappingCuration	2018-08-28
DOID:0050956	spinocerebellar ataxia type 6	skos:exactMatch	MIM:183086	Spinocerebellar ataxia 6	semapv:ManualMappingCuration	2017-11-01
DOID:0050957	spinocerebellar ataxia type 4	skos:exactMatch	MIM:600223	Spinocerebellar ataxia 4	semapv:ManualMappingCuration	2018-07-23
DOID:0050958	spinocerebellar ataxia type 7	skos:exactMatch	MIM:164500	Spinocerebellar ataxia 7	semapv:ManualMappingCuration	2018-04-21
DOID:0050959	spinocerebellar ataxia type 8	skos:exactMatch	MIM:608768	Spinocerebellar ataxia 8	semapv:ManualMappingCuration	2017-10-03
DOID:0050960	spinocerebellar ataxia type 10	skos:exactMatch	MIM:603516	Spinocerebellar ataxia 10	semapv:ManualMappingCuration	2017-10-03
DOID:0050961	spinocerebellar ataxia type 11	skos:exactMatch	MIM:604432	Spinocerebellar ataxia 11	semapv:ManualMappingCuration	2017-10-03
DOID:0050962	spinocerebellar ataxia type 12	skos:exactMatch	MIM:604326	Spinocerebellar ataxia 12	semapv:ManualMappingCuration	2017-10-03
DOID:0050963	spinocerebellar ataxia type 13	skos:exactMatch	MIM:605259	Spinocerebellar ataxia 13	semapv:ManualMappingCuration	2017-10-03
DOID:0050964	spinocerebellar ataxia type 14	skos:exactMatch	MIM:605361	Spinocerebellar ataxia 14	semapv:ManualMappingCuration	2017-10-03
DOID:0050965	spinocerebellar ataxia type 15	skos:exactMatch	MIM:606658	Spinocerebellar ataxia 15	semapv:ManualMappingCuration	2017-10-03
DOID:0050967	spinocerebellar ataxia type 17	skos:exactMatch	MIM:607136	Spinocerebellar ataxia 17	semapv:ManualMappingCuration	2017-10-03
DOID:0050968	autosomal dominant cerebellar ataxia, deafness and narcolepsy	skos:exactMatch	MIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	semapv:ManualMappingCuration	2014-10-20
DOID:0050969	spinocerebellar ataxia type 18	skos:exactMatch	MIM:607458	Spinocerebellar ataxia 18	semapv:ManualMappingCuration	2017-10-03
DOID:0050970	spinocerebellar ataxia type 19/22	skos:exactMatch	MIM:607346	Spinocerebellar ataxia 19	semapv:ManualMappingCuration	2017-10-03
DOID:0050971	spinocerebellar ataxia type 20	skos:exactMatch	MIM:608687	Spinocerebellar ataxia 20	semapv:ManualMappingCuration	2017-10-03
DOID:0050972	spinocerebellar ataxia type 21	skos:exactMatch	MIM:607454	Spinocerebellar ataxia 21	semapv:ManualMappingCuration	2017-10-03
DOID:0050973	spinocerebellar ataxia type 23	skos:exactMatch	MIM:610245	Spinocerebellar ataxia 23	semapv:ManualMappingCuration	2017-10-03
DOID:0050974	spinocerebellar ataxia type 25	skos:exactMatch	MIM:608703	Spinocerebellar ataxia 25	semapv:ManualMappingCuration	2017-10-03
DOID:0050975	spinocerebellar ataxia type 26	skos:exactMatch	MIM:609306	?Spinocerebellar ataxia 26	semapv:ManualMappingCuration	2017-10-03
DOID:0050977	spinocerebellar ataxia type 28	skos:exactMatch	MIM:610246	Spinocerebellar ataxia 28	semapv:ManualMappingCuration	2017-10-03
DOID:0050978	spinocerebellar ataxia type 29	skos:exactMatch	MIM:117360	Spinocerebellar ataxia 29, congenital nonprogressive	semapv:ManualMappingCuration	2017-10-03
DOID:0050979	spinocerebellar ataxia type 30	skos:exactMatch	MIM:613371	?Spinocerebellar ataxia 30	semapv:ManualMappingCuration	2017-10-03
DOID:0050980	spinocerebellar ataxia type 31	skos:exactMatch	MIM:117210	Spinocerebellar ataxia 31	semapv:ManualMappingCuration	2017-10-03
DOID:0050981	spinocerebellar ataxia type 34	skos:exactMatch	MIM:133190	Spinocerebellar ataxia 34	semapv:ManualMappingCuration	2018-04-23
DOID:0050982	spinocerebellar ataxia type 35	skos:exactMatch	MIM:613908	Spinocerebellar ataxia 35	semapv:ManualMappingCuration	2014-09-02
DOID:0050983	spinocerebellar ataxia type 36	skos:exactMatch	MIM:614153	Spinocerebellar ataxia 36	semapv:ManualMappingCuration	2014-09-02
DOID:0050984	spinocerebellar ataxia type 37	skos:exactMatch	MIM:615945	Spinocerebellar ataxia 37	semapv:ManualMappingCuration	2017-08-08
DOID:0050985	spinocerebellar ataxia type 38	skos:exactMatch	MIM:615957	Spinocerebellar ataxia 38	semapv:ManualMappingCuration	2017-04-19
DOID:0050986	spinocerebellar ataxia type 40	skos:exactMatch	MIM:616053	?Spinocerebellar ataxia 40	semapv:ManualMappingCuration	2017-04-19
DOID:0050989	episodic ataxia type 1	skos:exactMatch	MIM:160120	Episodic ataxia/myokymia syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0050990	episodic ataxia type 2	skos:exactMatch	MIM:108500	Episodic ataxia, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:0050991	episodic ataxia type 3	skos:exactMatch	MIM:606554	Episodic ataxia, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:0050992	episodic ataxia type 4	skos:exactMatch	MIM:606552	EPISODIC ATAXIA, TYPE 4	semapv:ManualMappingCuration	2018-06-25
DOID:0050993	episodic ataxia type 5	skos:exactMatch	MIM:613855	?Episodic ataxia, type 5	semapv:ManualMappingCuration	2017-10-03
DOID:0050994	episodic ataxia type 6	skos:exactMatch	MIM:612656	Episodic ataxia, type 6	semapv:ManualMappingCuration	2017-10-03
DOID:0050995	episodic ataxia type 7	skos:exactMatch	MIM:611907	Episodic ataxia, type 7	semapv:ManualMappingCuration	2017-10-03
DOID:0050996	episodic ataxia type 8	skos:exactMatch	MIM:616055	Episodic ataxia, type 8	semapv:ManualMappingCuration	2018-04-21
DOID:0050997	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome	skos:exactMatch	MIM:PS224050	Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1	semapv:ManualMappingCuration	2019-03-21
DOID:0050998	nonprogressive cerebellar ataxia with mental retardation	skos:exactMatch	MIM:614756	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	semapv:ManualMappingCuration	2014-09-09
DOID:0050999	autosomal recessive spinocerebellar ataxia 10	skos:exactMatch	MIM:613728	Spinocerebellar ataxia, autosomal recessive 10	semapv:ManualMappingCuration	2014-09-02
DOID:0060009	MHC class I deficiency	skos:exactMatch	MIM:604571	MHC class I deficiency 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060010	Omenn syndrome	skos:exactMatch	MIM:603554	Omenn syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060013	X-linked severe combined immunodeficiency	skos:exactMatch	MIM:300400	Severe combined immunodeficiency, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0060019	coronin-1A deficiency	skos:exactMatch	MIM:615401	Immunodeficiency 8	semapv:ManualMappingCuration	2014-09-09
DOID:0060020	reticular dysgenesis	skos:exactMatch	MIM:242880	IMMUNOERYTHROMYELOID HYPOPLASIA	semapv:ManualMappingCuration	2022-11-29
DOID:0060020	reticular dysgenesis	skos:exactMatch	MIM:267500	Reticular dysgenesis	semapv:ManualMappingCuration	2017-10-03
DOID:0060021	DNA ligase IV deficiency	skos:exactMatch	MIM:606593	LIG4 syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060022	CD40 ligand deficiency	skos:exactMatch	MIM:308230	Immunodeficiency, X-linked, with hyper-IgM	semapv:ManualMappingCuration	2017-10-03
DOID:0060023	immunodeficiency with hyper IgM type 3	skos:exactMatch	MIM:606843	Immunodeficiency with hyper-IgM, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:0060027	agammaglobulinemia 4	skos:exactMatch	MIM:613502	?Agammaglobulinemia 4	semapv:ManualMappingCuration	2017-10-10
DOID:0060055	popliteal pterygium syndrome	skos:exactMatch	MIM:119500	Popliteal pterygium syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060060	non-Hodgkin lymphoma	skos:exactMatch	MIM:605027	Lymphoma, non-Hodgkin, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:0060062	familial juvenile hyperuricemic nephropathy	skos:exactMatch	MIM:PS162000	Tubulointerstitial kidney disease, autosomal dominant, 1	semapv:ManualMappingCuration	2019-03-19
DOID:0060063	sideroblastic anemia 1	skos:exactMatch	MIM:300751	Anemia, sideroblastic, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060065	autosomal recessive pyridoxine-refractory sideroblastic anemia 2	skos:exactMatch	MIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory	semapv:ManualMappingCuration	2017-10-03
DOID:0060066	pyridoxine-responsive sideroblastic anemia	skos:exactMatch	MIM:206000	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	2018-08-21
DOID:0060067	Pearson syndrome	skos:exactMatch	MIM:557000	PEARSON MARROW-PANCREAS SYNDROME	semapv:ManualMappingCuration	2018-08-06
DOID:0060132	amusia	skos:exactMatch	MIM:191200	TUNE DEAFNESS	semapv:ManualMappingCuration	2022-11-21
DOID:0060161	Kennedy's disease	skos:exactMatch	MIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060162	dentatorubral-pallidoluysian atrophy	skos:exactMatch	MIM:125370	Dentatorubral-pallidoluysian atrophy	semapv:ManualMappingCuration	2018-05-29
DOID:0060165	Kleine-Levin syndrome	skos:exactMatch	MIM:148840	KLEINE-LEVIN HIBERNATION SYNDROME	semapv:ManualMappingCuration	2018-05-22
DOID:0060166	bipolar ll disorder	skos:exactMatch	MIM:309200	{?Major affective disorder 2}	semapv:ManualMappingCuration	2017-10-03
DOID:0060168	histidinemia	skos:exactMatch	MIM:235800	[Histidinemia]	semapv:ManualMappingCuration	2017-10-03
DOID:0060169	benign familial infantile epilepsy	skos:exactMatch	MIM:PS601764	Seizures, benign familial infantile, 1	semapv:ManualMappingCuration	2022-07-27
DOID:0060170	generalized epilepsy with febrile seizures plus	skos:exactMatch	MIM:PS604233	Generalized epilepsy with febrile seizures plus, type 1	semapv:ManualMappingCuration	2019-03-15
DOID:0060172	juvenile absence epilepsy	skos:exactMatch	MIM:PS607631	{Epilepsy, juvenile absence, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-27
DOID:0060173	Timothy syndrome	skos:exactMatch	MIM:601005	Timothy syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060174	GABA aminotransferase deficiency	skos:exactMatch	MIM:613163	GABA-transaminase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0060175	succinic semialdehyde dehydrogenase deficiency	skos:exactMatch	MIM:271980	Succinic semialdehyde dehydrogenase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0060177	homocarnosinosis	skos:exactMatch	MIM:212200	Carnosinemia	semapv:ManualMappingCuration	2017-10-03
DOID:0060177	homocarnosinosis	skos:exactMatch	MIM:236130	HOMOCARNOSINOSIS	semapv:ManualMappingCuration	2017-10-03
DOID:0060178	familial hemiplegic migraine	skos:exactMatch	MIM:PS141500	Migraine, familial hemiplegic, 1	semapv:ManualMappingCuration	2017-11-09
DOID:0060179	Renpenning syndrome	skos:exactMatch	MIM:309500	Renpenning syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060193	amyotrophic lateral sclerosis type 1	skos:exactMatch	MIM:105400	{Amyotrophic lateral sclerosis, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0060194	juvenile amyotrophic lateral sclerosis 2	skos:exactMatch	MIM:205100	Amyotrophic lateral sclerosis 2, juvenile	semapv:ManualMappingCuration	2017-10-03
DOID:0060195	amyotrophic lateral sclerosis type 3	skos:exactMatch	MIM:606640	Amyotrophic lateral sclerosis 3	semapv:ManualMappingCuration	2017-10-03
DOID:0060196	amyotrophic lateral sclerosis type 4	skos:exactMatch	MIM:602433	Amyotrophic lateral sclerosis 4, juvenile	semapv:ManualMappingCuration	2017-10-03
DOID:0060197	amyotrophic lateral sclerosis type 5	skos:exactMatch	MIM:602099	Amyotrophic lateral sclerosis 5, juvenile	semapv:ManualMappingCuration	2017-10-03
DOID:0060198	amyotrophic lateral sclerosis type 6	skos:exactMatch	MIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	semapv:ManualMappingCuration	2017-10-03
DOID:0060199	amyotrophic lateral sclerosis type 7	skos:exactMatch	MIM:608031	Amyotrophic lateral sclerosis 7	semapv:ManualMappingCuration	2017-10-03
DOID:0060200	amyotrophic lateral sclerosis type 9	skos:exactMatch	MIM:611895	Amyotrophic lateral sclerosis 9	semapv:ManualMappingCuration	2017-10-03
DOID:0060201	amyotrophic lateral sclerosis type 10	skos:exactMatch	MIM:612069	Amyotrophic lateral sclerosis 10, with or without FTD	semapv:ManualMappingCuration	2017-10-03
DOID:0060202	amyotrophic lateral sclerosis type 11	skos:exactMatch	MIM:612577	Amyotrophic lateral sclerosis 11	semapv:ManualMappingCuration	2017-10-03
DOID:0060203	amyotrophic lateral sclerosis type 12	skos:exactMatch	MIM:613435	Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia	semapv:ManualMappingCuration	2014-06-23
DOID:0060205	frontotemporal dementia and/or amyotrophic lateral sclerosis 6	skos:exactMatch	MIM:613954	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	semapv:ManualMappingCuration	2014-09-02
DOID:0060206	amyotrophic lateral sclerosis type 15	skos:exactMatch	MIM:300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	semapv:ManualMappingCuration	2014-09-02
DOID:0060207	amyotrophic lateral sclerosis type 16	skos:exactMatch	MIM:614373	?Amyotrophic lateral sclerosis 16, juvenile	semapv:ManualMappingCuration	2014-09-02
DOID:0060209	amyotrophic lateral sclerosis type 18	skos:exactMatch	MIM:614808	Amyotrophic lateral sclerosis 18	semapv:ManualMappingCuration	2014-09-02
DOID:0060210	amyotrophic lateral sclerosis type 19	skos:exactMatch	MIM:615515	Amyotrophic lateral sclerosis 19	semapv:ManualMappingCuration	2014-09-09
DOID:0060211	amyotrophic lateral sclerosis type 20	skos:exactMatch	MIM:615426	Amyotrophic lateral sclerosis 20	semapv:ManualMappingCuration	2015-06-30
DOID:0060212	amyotrophic lateral sclerosis type 21	skos:exactMatch	MIM:606070	Amyotrophic lateral sclerosis 21	semapv:ManualMappingCuration	2015-05-20
DOID:0060213	frontotemporal dementia and/or amyotrophic lateral sclerosis 1	skos:exactMatch	MIM:105550	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	semapv:ManualMappingCuration	2014-06-23
DOID:0060214	frontotemporal dementia and/or amyotrophic lateral sclerosis 2	skos:exactMatch	MIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	semapv:ManualMappingCuration	2015-11-11
DOID:0060221	Maffucci syndrome	skos:exactMatch	MIM:614569	MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE	semapv:ManualMappingCuration	2018-08-21
DOID:0060222	Scheie syndrome	skos:exactMatch	MIM:607016	Mucopolysaccharidosis Is	semapv:ManualMappingCuration	2018-02-02
DOID:0060225	3MC syndrome	skos:exactMatch	MIM:PS257920	3MC syndrome 1	semapv:ManualMappingCuration	2018-06-29
DOID:0060226	acrofrontofacionasal dysostosis	skos:exactMatch	MIM:201180	ACROFRONTOFACIONASAL DYSOSTOSIS 1	semapv:ManualMappingCuration	2018-08-21
DOID:0060227	Adams-Oliver syndrome	skos:exactMatch	MIM:PS100300	Adams-Oliver syndrome 1	semapv:ManualMappingCuration	2019-03-15
DOID:0060228	intracranial berry aneurysm	skos:exactMatch	MIM:PS105800	Aneurysm, intracranial berry, 1	semapv:ManualMappingCuration	2019-03-27
DOID:0060229	Baraitser-Winter syndrome	skos:exactMatch	MIM:PS243310	Baraitser-Winter syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:0060230	basal ganglia calcification	skos:exactMatch	MIM:PS213600	Basal ganglia calcification, idiopathic, 1	semapv:ManualMappingCuration	2019-03-20
DOID:0060233	cardiofaciocutaneous syndrome	skos:exactMatch	MIM:PS115150	Cardiofaciocutaneous syndrome	semapv:ManualMappingCuration	2019-03-27
DOID:0060234	Carpenter syndrome	skos:exactMatch	MIM:PS201000	Carpenter syndrome	semapv:ManualMappingCuration	2019-03-20
DOID:0060236	xanthinuria	skos:exactMatch	MIM:PS278300	Xanthinuria, type I	semapv:ManualMappingCuration	2019-03-21
DOID:0060237	Warburg micro syndrome	skos:exactMatch	MIM:PS600118	Warburg micro syndrome 1	semapv:ManualMappingCuration	2018-06-29
DOID:0060238	Van Maldergem syndrome	skos:exactMatch	MIM:PS601390	Van Maldergem syndrome 1	semapv:ManualMappingCuration	2019-03-26
DOID:0060239	Van der Woude syndrome	skos:exactMatch	MIM:119300	van der Woude syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060240	UV-sensitive syndrome	skos:exactMatch	MIM:PS600630	UV-sensitive syndrome 1	semapv:ManualMappingCuration	2019-03-20
DOID:0060241	3-M syndrome	skos:exactMatch	MIM:PS273750	3-M syndrome 1	semapv:ManualMappingCuration	2019-03-21
DOID:0060243	stuttering	skos:exactMatch	MIM:PS184450	Stuttering, familial persistent, 1	semapv:ManualMappingCuration	2019-03-27
DOID:0060244	specific language impairment	skos:exactMatch	MIM:PS606711	Specific language impairment QTL, 1	semapv:ManualMappingCuration	2019-03-27
DOID:0060245	MAST syndrome	skos:exactMatch	MIM:248900	Mast syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060246	MASA syndrome	skos:exactMatch	MIM:303350	MASA syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060247	Smith-McCort dysplasia	skos:exactMatch	MIM:PS607326	Smith-McCort dysplasia	semapv:ManualMappingCuration	2019-03-26
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1	skos:exactMatch	MIM:312870	Simpson-Golabi-Behmel syndrome, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060250	idiopathic scoliosis	skos:exactMatch	MIM:181800	Scoliosis, idiopathic 1	semapv:ManualMappingCuration	2014-06-23
DOID:0060250	idiopathic scoliosis	skos:exactMatch	MIM:607354	Scoliosis, idiopathic 2	semapv:ManualMappingCuration	2014-06-23
DOID:0060250	idiopathic scoliosis	skos:exactMatch	MIM:608765	{Scoliosis, isolated, susceptibility to, 3}	semapv:ManualMappingCuration	2014-06-23
DOID:0060250	idiopathic scoliosis	skos:exactMatch	MIM:612238	{Scoliosis, idiopathic, susceptibility to, 4}	semapv:ManualMappingCuration	2014-06-23
DOID:0060250	idiopathic scoliosis	skos:exactMatch	MIM:612239	{Scoliosis, idiopathic, susceptibility to, 5}	semapv:ManualMappingCuration	2014-06-23
DOID:0060251	sclerosteosis	skos:exactMatch	MIM:PS269500	Sclerosteosis 1	semapv:ManualMappingCuration	2019-03-26
DOID:0060254	Robinow syndrome	skos:exactMatch	MIM:PS268310	Robinow syndrome, autosomal recessive	semapv:ManualMappingCuration	2018-09-28
DOID:0060255	rippling muscle disease 2	skos:exactMatch	MIM:606072	Rippling muscle disease 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060256	Dowling-Degos disease	skos:exactMatch	MIM:PS179850	Dowling-Degos disease 1	semapv:ManualMappingCuration	2019-03-27
DOID:0060257	dyschromatosis symmetrica hereditaria	skos:exactMatch	MIM:127400	Dyschromatosis symmetrica hereditaria	semapv:ManualMappingCuration	2017-10-03
DOID:0060258	reticulate acropigmentation of Kitamura	skos:exactMatch	MIM:615537	Reticulate acropigmentation of Kitamura	semapv:ManualMappingCuration	2014-09-09
DOID:0060259	renal-hepatic-pancreatic dysplasia	skos:exactMatch	MIM:PS208540	Renal-hepatic-pancreatic dysplasia 1	semapv:ManualMappingCuration	2019-03-20
DOID:0060262	gallbladder disease	skos:exactMatch	MIM:PS600803	Gallbladder disease 1	semapv:ManualMappingCuration	2019-03-19
DOID:0060264	pontocerebellar hypoplasia	skos:exactMatch	MIM:PS607596	Pontocerebellar hypoplasia type 1A	semapv:ManualMappingCuration	2019-03-19
DOID:0060265	pontocerebellar hypoplasia type 1A	skos:exactMatch	MIM:607596	Pontocerebellar hypoplasia type 1A	semapv:ManualMappingCuration	2017-10-03
DOID:0060266	pontocerebellar hypoplasia type 1B	skos:exactMatch	MIM:614678	Pontocerebellar hypoplasia, type 1B	semapv:ManualMappingCuration	2014-09-09
DOID:0060267	pontocerebellar hypoplasia type 2A	skos:exactMatch	MIM:277470	Pontocerebellar hypoplasia type 2A	semapv:ManualMappingCuration	2017-10-03
DOID:0060268	pontocerebellar hypoplasia type 2B	skos:exactMatch	MIM:612389	Pontocerebellar hypoplasia type 2B	semapv:ManualMappingCuration	2017-10-03
DOID:0060269	pontocerebellar hypoplasia type 2C	skos:exactMatch	MIM:612390	?Pontocerebellar hypoplasia type 2C	semapv:ManualMappingCuration	2017-10-03
DOID:0060270	pontocerebellar hypoplasia type 2D	skos:exactMatch	MIM:613811	Pontocerebellar hypoplasia type 2D	semapv:ManualMappingCuration	2014-09-09
DOID:0060271	pontocerebellar hypoplasia type 2E	skos:exactMatch	MIM:615851	Pontocerebellar hypoplasia, type 2E	semapv:ManualMappingCuration	2014-09-09
DOID:0060272	pontocerebellar hypoplasia type 3	skos:exactMatch	MIM:608027	?Pontocerebellar hypoplasia, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:0060273	pontocerebellar hypoplasia type 4	skos:exactMatch	MIM:225753	Pontocerebellar hypoplasia type 4	semapv:ManualMappingCuration	2014-06-23
DOID:0060274	pontocerebellar hypoplasia type 5	skos:exactMatch	MIM:610204	?Pontocerebellar hypoplasia type 5	semapv:ManualMappingCuration	2018-08-21
DOID:0060275	pontocerebellar hypoplasia type 6	skos:exactMatch	MIM:611523	Pontocerebellar hypoplasia, type 6	semapv:ManualMappingCuration	2017-10-03
DOID:0060276	pontocerebellar hypoplasia type 7	skos:exactMatch	MIM:614969	Pontocerebellar hypoplasia, type 7	semapv:ManualMappingCuration	2017-06-21
DOID:0060277	pontocerebellar hypoplasia type 8	skos:exactMatch	MIM:614961	Pontocerebellar hypoplasia, type 8	semapv:ManualMappingCuration	2014-09-09
DOID:0060278	pontocerebellar hypoplasia type 9	skos:exactMatch	MIM:615809	Pontocerebellar hypoplasia, type 9	semapv:ManualMappingCuration	2014-09-09
DOID:0060279	pontocerebellar hypoplasia type 10	skos:exactMatch	MIM:615803	Pontocerebellar hypoplasia, type 10	semapv:ManualMappingCuration	2014-09-09
DOID:0060280	primary pigmented nodular adrenocortical disease	skos:exactMatch	MIM:PS610489	Pigmented nodular adrenocortical disease, primary, 1	semapv:ManualMappingCuration	2019-03-15
DOID:0060281	photosensitive epilepsy	skos:exactMatch	MIM:PS132100	Photoparoxysmal response 1	semapv:ManualMappingCuration	2019-03-26
DOID:0060282	persistent hyperplastic primary vitreous	skos:exactMatch	MIM:PS221900	Persistent hyperplastic primary vitreous, autosomal recessive	semapv:ManualMappingCuration	2019-03-19
DOID:0060283	peeling skin syndrome	skos:exactMatch	MIM:PS270300	Peeling skin syndrome 1	semapv:ManualMappingCuration	2019-03-26
DOID:0060284	paroxysmal nocturnal hemoglobinuria	skos:exactMatch	MIM:615749	[Eculizumab, poor response to]	semapv:ManualMappingCuration	2015-07-01
DOID:0060284	paroxysmal nocturnal hemoglobinuria	skos:exactMatch	MIM:PS300818	Paroxysmal nocturnal hemoglobinuria, somatic	semapv:ManualMappingCuration	2019-03-28
DOID:0060285	parietal foramina	skos:exactMatch	MIM:PS168500	Parietal foramina 1	semapv:ManualMappingCuration	2019-03-27
DOID:0060286	combined oxidative phosphorylation deficiency	skos:exactMatch	MIM:PS609060	Combined oxidative phosphorylation deficiency 1	semapv:ManualMappingCuration	2019-03-21
DOID:0060287	cornea plana	skos:exactMatch	MIM:PS121400	Cornea plana 1, autosomal dominant	semapv:ManualMappingCuration	2019-03-19
DOID:0060288	omodysplasia	skos:exactMatch	MIM:PS258315	Omodysplasia 1	semapv:ManualMappingCuration	2019-10-07
DOID:0060289	Ohdo syndrome	skos:exactMatch	MIM:249620	OHDO SYNDROME	semapv:ManualMappingCuration	2014-10-20
DOID:0060290	Ohdo syndrome, SBBYS variant	skos:exactMatch	MIM:603736	SBBYSS syndrome	semapv:ManualMappingCuration	2017-01-31
DOID:0060291	oculodentodigital dysplasia	skos:exactMatch	MIM:164200	Oculodentodigital dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0060292	X-linked chondrodysplasia punctata 1	skos:exactMatch	MIM:302950	Chondrodysplasia punctata, X-linked recessive	semapv:ManualMappingCuration	2018-10-12
DOID:0060292	X-linked chondrodysplasia punctata 1	skos:exactMatch	MIM:602497	CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC, AUTOSOMAL	semapv:ManualMappingCuration	2018-08-22
DOID:0060293	autosomal dominant chondrodysplasia punctata	skos:exactMatch	MIM:118650	CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2018-08-22
DOID:0060294	cold-induced sweating syndrome	skos:exactMatch	MIM:PS272430	Cold-induced sweating syndrome 1	semapv:ManualMappingCuration	2018-09-28
DOID:0060295	complement component 2 deficiency	skos:exactMatch	MIM:217000	C2 deficiency	semapv:ManualMappingCuration	2014-06-23
DOID:0060296	congenital secretory chloride diarrhea 1	skos:exactMatch	MIM:214700	Diarrhea 1, secretory chloride, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:0060297	complement component 4A deficiency	skos:exactMatch	MIM:614380	C4a deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:0060298	complement component 4B deficiency	skos:exactMatch	MIM:614379	C4B deficiency	semapv:ManualMappingCuration	2017-10-10
DOID:0060299	complement component 6 deficiency	skos:exactMatch	MIM:612446	C6 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0060300	complement component 7 deficiency	skos:exactMatch	MIM:610102	C7 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0060301	type I complement component 8 deficiency	skos:exactMatch	MIM:613790	C8 deficiency, type I	semapv:ManualMappingCuration	2014-06-23
DOID:0060302	type II complement component 8 deficiency	skos:exactMatch	MIM:613789	C8 deficiency, type II	semapv:ManualMappingCuration	2014-06-23
DOID:0060303	complement component 9 deficiency	skos:exactMatch	MIM:613825	C9 deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:0060304	dyschromatosis universalis hereditaria	skos:exactMatch	MIM:PS127500	Dyschromatosis universalis hereditaria 1	semapv:ManualMappingCuration	2019-03-15
DOID:0060305	megalocornea	skos:exactMatch	MIM:249300	MEGALOCORNEA	semapv:ManualMappingCuration	2018-08-22
DOID:0060305	megalocornea	skos:exactMatch	MIM:309300	MEGALOCORNEA	semapv:ManualMappingCuration	2017-10-03
DOID:0060306	Meier-Gorlin syndrome	skos:exactMatch	MIM:PS224690	Meier-Gorlin syndrome 1	semapv:ManualMappingCuration	2019-03-15
DOID:0060307	autosomal dominant intellectual developmental disorder	skos:exactMatch	MIM:PS156200	Intellectual developmental disorder, autosomal dominant 1	semapv:ManualMappingCuration	2018-06-29
DOID:0060308	autosomal recessive intellectual developmental disorder	skos:exactMatch	MIM:PS249500	Intellectual developmental disorder, autosomal recessive 1	semapv:ManualMappingCuration	2019-03-28
DOID:0060309	syndromic X-linked intellectual disability	skos:exactMatch	MIM:PS309510	Partington syndrome	semapv:ManualMappingCuration	2018-06-29
DOID:0060316	orofaciodigital syndrome I	skos:exactMatch	MIM:311200	Orofaciodigital syndrome I	semapv:ManualMappingCuration	2017-10-03
DOID:0060318	acute promyelocytic leukemia	skos:exactMatch	MIM:612376	Leukemia, acute promyelocytic	semapv:ManualMappingCuration	2017-10-03
DOID:0060327	omphalocele	skos:exactMatch	MIM:164750	Omphalocele due to duplication of 1p31.3	semapv:ManualMappingCuration	2018-08-21
DOID:0060327	omphalocele	skos:exactMatch	MIM:310980	OMPHALOCELE, X-LINKED	semapv:ManualMappingCuration	2022-11-21
DOID:0060330	Rapp-Hodgkin syndrome	skos:exactMatch	MIM:129400	Rapp-Hodgkin syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060331	mitochondrial complex V (ATP synthase) deficiency nuclear type 2	skos:exactMatch	MIM:614052	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	semapv:ManualMappingCuration	2014-10-20
DOID:0060332	mitochondrial complex V (ATP synthase) deficiency nuclear type 3	skos:exactMatch	MIM:614053	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3	semapv:ManualMappingCuration	2014-09-09
DOID:0060335	autosomal dominant sideroblastic anemia 4	skos:exactMatch	MIM:182170	Anemia, sideroblastic, 4	semapv:ManualMappingCuration	2017-02-14
DOID:0060336	3-methylglutaconic aciduria	skos:exactMatch	MIM:PS250950	3-methylglutaconic aciduria, type I	semapv:ManualMappingCuration	2018-09-12
DOID:0060337	CEDNIK syndrome	skos:exactMatch	MIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060339	chronic atrial and intestinal dysrhythmia	skos:exactMatch	MIM:616201	Chronic atrial and intestinal dysrhythmia	semapv:ManualMappingCuration	2015-03-03
DOID:0060341	agnathia-otocephaly complex	skos:exactMatch	MIM:202650	Agnathia-otocephaly complex	semapv:ManualMappingCuration	2017-10-03
DOID:0060342	acromelic frontonasal dysostosis	skos:exactMatch	MIM:603671	Acromelic frontonasal dysostosis	semapv:ManualMappingCuration	2017-10-10
DOID:0060346	Native American myopathy	skos:exactMatch	MIM:255995	Congenital myopathy 13	semapv:ManualMappingCuration	2014-10-20
DOID:0060347	acrorenal syndrome	skos:exactMatch	MIM:102520	ACRORENAL SYNDROME	semapv:ManualMappingCuration	2018-08-22
DOID:0060348	hypoparathyroidism-retardation-dysmorphism syndrome	skos:exactMatch	MIM:241410	Hypoparathyroidism-retardation-dysmorphism syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060349	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	skos:exactMatch	MIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development	semapv:ManualMappingCuration	2017-10-10
DOID:0060350	adenine phosphoribosyltransferase deficiency	skos:exactMatch	MIM:614723	Adenine phosphoribosyltransferase deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:0060351	mitochondrial complex III deficiency nuclear type 2	skos:exactMatch	MIM:615157	Mitochondrial complex III deficiency, nuclear type 2	semapv:ManualMappingCuration	2014-09-02
DOID:0060352	Kleefstra syndrome 1	skos:exactMatch	MIM:610253	Kleefstra syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060353	acrofacial dysostosis Cincinnati type	skos:exactMatch	MIM:616462	Acrofacial dysostosis, Cincinnati type	semapv:ManualMappingCuration	2017-02-14
DOID:0060354	Stormorken syndrome	skos:exactMatch	MIM:185070	Stormorken syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0060355	amyotrophic lateral sclerosis type 22	skos:exactMatch	MIM:616208	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia	semapv:ManualMappingCuration	2016-06-07
DOID:0060356	Vici syndrome	skos:exactMatch	MIM:242840	Vici syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0060357	chylomicron retention disease	skos:exactMatch	MIM:246700	Chylomicron retention disease	semapv:ManualMappingCuration	2017-10-03
DOID:0060358	multiple acyl-CoA dehydrogenase deficiency	skos:exactMatch	MIM:231680	Glutaric acidemia IIB	semapv:ManualMappingCuration	2017-10-03
DOID:0060359	Sakati-Nyhan syndrome	skos:exactMatch	MIM:101120	ACROCEPHALOPOLYSYNDACTYLY TYPE III	semapv:ManualMappingCuration	2018-08-21
DOID:0060360	hereditary papulotranslucent acrokeratoderma	skos:exactMatch	MIM:101840	ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT	semapv:ManualMappingCuration	2018-08-21
DOID:0060362	punctate palmoplantar keratoderma type III	skos:exactMatch	MIM:101850	?Keratoderma, palmoplantar, punctate type 3	semapv:ManualMappingCuration	2018-08-21
DOID:0060363	glycerol kinase deficiency	skos:exactMatch	MIM:307030	Glycerol kinase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0060364	Galloway-Mowat syndrome 1	skos:exactMatch	MIM:251300	Galloway-Mowat syndrome 1	semapv:ManualMappingCuration	2019-03-13
DOID:0060365	mandibulofacial dysostosis with alopecia	skos:exactMatch	MIM:616367	Mandibulofacial dysostosis with alopecia	semapv:ManualMappingCuration	2017-05-04
DOID:0060366	Hennekam syndrome	skos:exactMatch	MIM:PS235510	Hennekam lymphangiectasia-lymphedema syndrome 1	semapv:ManualMappingCuration	2019-03-19
DOID:0060367	Parkinson's disease 1	skos:exactMatch	MIM:168601	Parkinson disease 1	semapv:ManualMappingCuration	2014-06-23
DOID:0060368	Parkinson's disease 2	skos:exactMatch	MIM:600116	Parkinson disease, juvenile, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060369	Parkinson's disease 6	skos:exactMatch	MIM:605909	Parkinson disease 6, early onset	semapv:ManualMappingCuration	2017-10-03
DOID:0060370	Parkinson's disease 7	skos:exactMatch	MIM:606324	Parkinson disease 7, autosomal recessive early-onset	semapv:ManualMappingCuration	2017-10-03
DOID:0060371	Parkinson's disease 8	skos:exactMatch	MIM:607060	{Parkinson disease 8}	semapv:ManualMappingCuration	2014-06-23
DOID:0060372	Parkinson's disease 15	skos:exactMatch	MIM:260300	Parkinson disease 15, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0060373	orofaciodigital syndrome III	skos:exactMatch	MIM:258850	OROFACIODIGITAL SYNDROME III	semapv:ManualMappingCuration	2018-08-22
DOID:0060374	orofaciodigital syndrome IV	skos:exactMatch	MIM:258860	Orofaciodigital syndrome IV	semapv:ManualMappingCuration	2014-10-20
DOID:0060375	orofaciodigital syndrome V	skos:exactMatch	MIM:174300	Orofaciodigital syndrome V	semapv:ManualMappingCuration	2014-10-20
DOID:0060376	Joubert syndrome with orofaciodigital defect	skos:exactMatch	MIM:277170	Orofaciodigital syndrome VI	semapv:ManualMappingCuration	2017-10-10
DOID:0060377	orofaciodigital syndrome VII	skos:exactMatch	MIM:608518	OROFACIODIGITAL SYNDROME VII	semapv:ManualMappingCuration	2018-08-22
DOID:0060378	orofaciodigital syndrome VIII	skos:exactMatch	MIM:300484	Orofaciodigital syndrome VIII	semapv:ManualMappingCuration	2018-05-22
DOID:0060380	orofaciodigital syndrome X	skos:exactMatch	MIM:165590	OROFACIODIGITAL SYNDROME X	semapv:ManualMappingCuration	2018-05-22
DOID:0060381	orofaciodigital syndrome XI	skos:exactMatch	MIM:612913	OROFACIODIGITAL SYNDROME XI	semapv:ManualMappingCuration	2018-05-22
DOID:0060382	orofaciodigital syndrome IX	skos:exactMatch	MIM:258865	OROFACIODIGITAL SYNDROME IX	semapv:ManualMappingCuration	2018-05-22
DOID:0060383	acrofacial dysostosis Rodriguez type	skos:exactMatch	MIM:201170	ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ	semapv:ManualMappingCuration	2018-08-21
DOID:0060384	acrofacial dysostosis, Catania type	skos:exactMatch	MIM:101805	ACROFACIAL DYSOSTOSIS, CATANIA TYPE	semapv:ManualMappingCuration	2018-08-22
DOID:0060385	acrofacial dysostosis, Patagonia type	skos:exactMatch	MIM:601829	ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE	semapv:ManualMappingCuration	2018-08-21
DOID:0060386	Chilblain lupus	skos:exactMatch	MIM:PS610448	Chilblain lupus	semapv:ManualMappingCuration	2019-03-19
DOID:0060387	chondrodysplasia Blomstrand type	skos:exactMatch	MIM:215045	Chondrodysplasia, Blomstrand type	semapv:ManualMappingCuration	2017-10-03
DOID:0060389	chromosome 10q23 deletion syndrome	skos:exactMatch	MIM:612242	Chromosome 10q22.3-q23.2 deletion syndrome	semapv:ManualMappingCuration	2018-04-17
DOID:0060390	distal 10q deletion syndrome	skos:exactMatch	MIM:609625	Chromosome 10q26 deletion syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060391	chromosome 13q14 deletion syndrome	skos:exactMatch	MIM:613884	Chromosome 13q14 deletion syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0060392	chromosome 14q11-q22 deletion syndrome	skos:exactMatch	MIM:613457	Chromosome 14q11-q22 deletion syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060393	chromosome 15q11.2 deletion syndrome	skos:exactMatch	MIM:615656	Chromosome 15q11.2 deletion syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060394	chromosome 15q13.3 microdeletion syndrome	skos:exactMatch	MIM:612001	Chromosome 15q13.3 microdeletion syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0060395	chromosome 15q24 deletion syndrome	skos:exactMatch	MIM:613406	Witteveen-Kolk syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060396	chromosome 15q25 deletion syndrome	skos:exactMatch	MIM:614294	Chromosome 15q25 deletion syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060397	chromosome 15q26-qter deletion syndrome	skos:exactMatch	MIM:612626	Chromosome 15q26-qter deletion syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060398	chromosome 16p11.2 deletion syndrome, 220-kb	skos:exactMatch	MIM:613444	[Body mass index QTL16]	semapv:ManualMappingCuration	2018-08-21
DOID:0060399	chromosome 16p12.1 deletion syndrome	skos:exactMatch	MIM:136570	Chromosome 16p12.1 deletion syndrome, 520kb	semapv:ManualMappingCuration	2018-08-22
DOID:0060400	chromosome 16p12.2-p11.2 deletion syndrome	skos:exactMatch	MIM:613604	Chromosome 16p12.2-p11.2 deletion syndrome	semapv:ManualMappingCuration	2018-04-25
DOID:0060401	chromosome 16q22 deletion syndrome	skos:exactMatch	MIM:614541	Chromosome 16q22 deletion syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060402	chromosome 17p13.1 deletion syndrome	skos:exactMatch	MIM:613776	Chromosome 17p13.1 deletion syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0060403	chromosome 17q11.2 deletion syndrome	skos:exactMatch	MIM:613675	Chromosome 17q11.2 deletion syndrome, 1.4Mb	semapv:ManualMappingCuration	2018-08-21
DOID:0060403	chromosome 17q11.2 deletion syndrome	skos:exactMatch	MIM:614192	null	semapv:ManualMappingCuration	2014-09-09
DOID:0060404	chromosome 17q12 deletion syndrome	skos:exactMatch	MIM:614527	Chromosome 17q12 deletion syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060405	chromosome 17q23.1-q23.2 deletion syndrome	skos:exactMatch	MIM:613355	Chromosome 17q23.1-q23.2 deletion syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060406	chromosome 18p deletion syndrome	skos:exactMatch	MIM:146390	Chromosome 18p deletion syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060407	chromosome 18q deletion syndrome	skos:exactMatch	MIM:601808	Chromosome 18q deletion syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060408	chromosome 19q13.11 deletion syndrome	skos:exactMatch	MIM:613026	Chromosome 19q13.11 deletion syndrome, distal	semapv:ManualMappingCuration	2018-08-21
DOID:0060409	NFIA-related disorder	skos:exactMatch	MIM:613735	Brain malformations with or without urinary tract defects	semapv:ManualMappingCuration	2017-07-11
DOID:0060410	chromosome 1p36 deletion syndrome	skos:exactMatch	MIM:607872	Chromosome 1p36 deletion syndrome, distal	semapv:ManualMappingCuration	2018-08-21
DOID:0060411	chromosome 1q21.1 deletion syndrome	skos:exactMatch	MIM:612474	Chromosome 1q21.1 deletion syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0060412	chromosome 1q41-q42 deletion syndrome	skos:exactMatch	MIM:612530	Chromosome 1q41-q42 deletion syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060413	chromosome 22q11.2 deletion syndrome, distal	skos:exactMatch	MIM:611867	Chromosome 22q11.2 deletion syndrome, distal	semapv:ManualMappingCuration	2018-08-22
DOID:0060414	chromosome 2p12-p11.2 deletion syndrome	skos:exactMatch	MIM:613564	Chromosome 2p12-p11.2 deletion syndrome	semapv:ManualMappingCuration	2018-04-25
DOID:0060415	chromosome 2p16.1-p15 deletion syndrome	skos:exactMatch	MIM:612513	Chromosome 2p16.1-p15 deletion syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060416	chromosome 2q31.2 deletion syndrome	skos:exactMatch	MIM:612345	Chromosome 2q31.2 deletion syndrome	semapv:ManualMappingCuration	2018-04-26
DOID:0060417	3p deletion syndrome	skos:exactMatch	MIM:613792	3p- syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0060418	chromosome 3q13.31 deletion syndrome	skos:exactMatch	MIM:615433	Chromosome 3q13.31 deletion syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060419	chromosome 3q29 microdeletion syndrome	skos:exactMatch	MIM:609425	Chromosome 3q29 microdeletion syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060420	chromosome 4q21 deletion syndrome	skos:exactMatch	MIM:613509	Chromosome 4q21 deletion syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060421	chromosome 5q12 deletion syndrome	skos:exactMatch	MIM:615668	Chromosome 5q12 deletion syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060422	chromosome 6pter-p24 deletion syndrome	skos:exactMatch	MIM:612582	Chromosome 6pter-p24 deletion syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060423	chromosome 6q11-q14 deletion syndrome	skos:exactMatch	MIM:613544	Chromosome 6q11-q14 deletion syndrome	semapv:ManualMappingCuration	2018-04-23
DOID:0060424	chromosome 6q24-q25 deletion syndrome	skos:exactMatch	MIM:612863	Chromosome 6q25-q25 deletion syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060425	chromosome 8q21.11 deletion syndrome	skos:exactMatch	MIM:614230	Chromosome 8q21.11 deletion syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0060426	chromosome 19p13.13 deletion syndrome	skos:exactMatch	MIM:613638	Chromosome 19p13.13 duplication syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060427	chromosome Xp21 deletion syndrome	skos:exactMatch	MIM:300679	Chromosome Xp21 deletion syndrome	semapv:ManualMappingCuration	2018-08-23
DOID:0060428	SATB2-associated syndrome	skos:exactMatch	MIM:612313	Glass syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0060430	chromosome 16p11.2 duplication syndrome	skos:exactMatch	MIM:614671	Chromosome 16p11.2 duplication syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060431	chromosome 16p13.3 duplication syndrome	skos:exactMatch	MIM:613458	Chromosome 16p13.3 duplication syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060432	chromosome 17p13.3 duplication syndrome	skos:exactMatch	MIM:613215	Chromosome 17p13.3 duplication syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060433	chromosome 17q12 duplication syndrome	skos:exactMatch	MIM:614526	Chromosome 17q12 duplication syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060434	chromosome 17q21.31 duplication syndrome	skos:exactMatch	MIM:613533	Chromosome 17q21.31 duplication syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060435	chromosome 1q21.1 duplication syndrome	skos:exactMatch	MIM:612475	Chromosome 1q21.1 duplication syndrome	semapv:ManualMappingCuration	2018-04-25
DOID:0060436	chromosome 22q11.2 microduplication syndrome	skos:exactMatch	MIM:608363	Chromosome 22q11.2 microduplication syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060437	chromosome 22q13 duplication syndrome	skos:exactMatch	MIM:615538	Chromosome 22q13 duplication syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060438	Cole-Carpenter syndrome	skos:exactMatch	MIM:PS112240	Cole-Carpenter syndrome 1	semapv:ManualMappingCuration	2019-03-20
DOID:0060439	lysinuric protein intolerance	skos:exactMatch	MIM:222700	Lysinuric protein intolerance	semapv:ManualMappingCuration	2017-10-03
DOID:0060444	granular corneal dystrophy 2	skos:exactMatch	MIM:607541	Corneal dystrophy, Avellino type	semapv:ManualMappingCuration	2017-10-03
DOID:0060445	congenital stromal corneal dystrophy	skos:exactMatch	MIM:610048	Corneal dystrophy, congenital stromal	semapv:ManualMappingCuration	2017-10-03
DOID:0060446	X-linked endothelial corneal dystrophy	skos:exactMatch	MIM:300779	Corneal dystrophy, endothelial, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0060447	epithelial basement membrane dystrophy	skos:exactMatch	MIM:121820	Corneal dystrophy, epithelial basement membrane	semapv:ManualMappingCuration	2017-10-03
DOID:0060448	Fleck corneal dystrophy	skos:exactMatch	MIM:121850	Corneal fleck dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0060449	gelatinous drop-like corneal dystrophy	skos:exactMatch	MIM:204870	Corneal dystrophy, gelatinous drop-like	semapv:ManualMappingCuration	2017-10-03
DOID:0060450	Lisch epithelial corneal dystrophy	skos:exactMatch	MIM:620763	Lisch epithelial corneal dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0060451	Meesmann corneal dystrophy	skos:exactMatch	MIM:PS122100	Meesmann corneal dystrophy 1	semapv:ManualMappingCuration	2020-04-23
DOID:0060452	posterior amorphous corneal dystrophy	skos:exactMatch	MIM:612868	Corneal dystrophy, posterior amorphous	semapv:ManualMappingCuration	2018-08-21
DOID:0060453	Reis-Bucklers corneal dystrophy	skos:exactMatch	MIM:608470	Corneal dystrophy, Reis-Bucklers type	semapv:ManualMappingCuration	2017-10-03
DOID:0060454	subepithelial mucinous corneal dystrophy	skos:exactMatch	MIM:612867	CORNEAL DYSTROPHY, SUBEPITHELIAL MUCINOUS	semapv:ManualMappingCuration	2018-08-21
DOID:0060455	Thiel-Behnke corneal dystrophy	skos:exactMatch	MIM:602082	Corneal dystrophy, Thiel-Behnke type	semapv:ManualMappingCuration	2017-10-03
DOID:0060456	Schnyder corneal dystrophy	skos:exactMatch	MIM:121800	Corneal dystrophy, Schnyder type	semapv:ManualMappingCuration	2017-10-03
DOID:0060457	posterior polymorphous corneal dystrophy	skos:exactMatch	MIM:PS122000	Corneal dystrophy, posterior polymorphous, 1	semapv:ManualMappingCuration	2019-03-15
DOID:0060458	chromosome 2q31.1 duplication syndrome	skos:exactMatch	MIM:613681	Chromosome 2q31.1 duplication syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060459	chromosome 3q29 microduplication syndrome	skos:exactMatch	MIM:611936	Chromosome 3q29 microduplication syndrome	semapv:ManualMappingCuration	2018-04-25
DOID:0060460	chromosome 5p13 duplication syndrome	skos:exactMatch	MIM:613174	Chromosome 5p13 duplication syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060461	chromosome Xp11.23-p11.22 duplication syndrome	skos:exactMatch	MIM:300801	Chromosome Xp11.23-p11.22 duplication syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:0060462	Desbuquois dysplasia	skos:exactMatch	MIM:PS251450	Desbuquois dysplasia 1	semapv:ManualMappingCuration	2019-03-26
DOID:0060464	Feingold syndrome	skos:exactMatch	MIM:PS164280	Feingold syndrome 1	semapv:ManualMappingCuration	2019-03-20
DOID:0060465	fibrochondrogenesis	skos:exactMatch	MIM:PS228520	Fibrochondrogenesis 1	semapv:ManualMappingCuration	2019-03-21
DOID:0060466	gingival fibromatosis	skos:exactMatch	MIM:PS135300	Fibromatosis, gingival, 1	semapv:ManualMappingCuration	2019-03-28
DOID:0060467	humeroradial synostosis	skos:exactMatch	MIM:143050	HUMERORADIAL SYNOSTOSIS	semapv:ManualMappingCuration	2018-08-22
DOID:0060467	humeroradial synostosis	skos:exactMatch	MIM:236400	HUMERORADIAL SYNOSTOSIS	semapv:ManualMappingCuration	2018-08-22
DOID:0060468	Holt-Oram syndrome	skos:exactMatch	MIM:142900	Holt-Oram syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060468	Holt-Oram syndrome	skos:exactMatch	MIM:314600	WILDERVANCK SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:0060469	Miller-Dieker lissencephaly syndrome	skos:exactMatch	MIM:247200	Miller-Dieker lissencephaly syndrome	semapv:ManualMappingCuration	2018-07-24
DOID:0060470	salt and pepper syndrome	skos:exactMatch	MIM:609056	Salt and pepper developmental regression syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060471	fetal valproate syndrome	skos:exactMatch	MIM:609442	VALPROATE EMBRYOPATHY, SUSCEPTIBILITY TO	semapv:ManualMappingCuration	2018-08-21
DOID:0060472	Kindler syndrome	skos:exactMatch	MIM:173650	Kindler syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060473	Kabuki syndrome	skos:exactMatch	MIM:PS147920	Kabuki syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:0060474	familial erythrocytosis 2	skos:exactMatch	MIM:263400	Erythrocytosis, familial, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060475	myoclonic-atonic epilepsy	skos:exactMatch	MIM:616421	Myoclonic-atonic epilepsy	semapv:ManualMappingCuration	2015-07-16
DOID:0060476	Perlman syndrome	skos:exactMatch	MIM:267000	Perlman syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0060479	Shwachman-Diamond syndrome	skos:exactMatch	MIM:260400	Shwachman-Diamond syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060479	Shwachman-Diamond syndrome	skos:exactMatch	MIM:PS260400	Shwachman-Diamond syndrome 1	semapv:ManualMappingCuration	2019-03-28
DOID:0060480	left ventricular noncompaction	skos:exactMatch	MIM:PS604169	Left ventricular noncompaction 1, with or without congenital heart defects	semapv:ManualMappingCuration	2019-03-27
DOID:0060481	Goldberg-Shprintzen syndrome	skos:exactMatch	MIM:609460	Goldberg-Shprintzen megacolon syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060482	oculoauricular syndrome	skos:exactMatch	MIM:612109	Oculoauricular syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060483	MEDNIK syndrome	skos:exactMatch	MIM:609313	MEDNIK syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060484	EAST syndrome	skos:exactMatch	MIM:612780	SESAME syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060485	Mowat-Wilson syndrome	skos:exactMatch	MIM:235730	Mowat-Wilson syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060486	Perry syndrome	skos:exactMatch	MIM:168605	Perry syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060488	Pitt-Hopkins syndrome	skos:exactMatch	MIM:610954	Pitt-Hopkins syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060490	Schimke immuno-osseous dysplasia	skos:exactMatch	MIM:242900	Schimke immunoosseous dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0060491	SPOAN syndrome	skos:exactMatch	MIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	semapv:ManualMappingCuration	2017-10-03
DOID:0060535	Warsaw breakage syndrome	skos:exactMatch	MIM:613398	Warsaw breakage syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0060537	mitochondrial complex II deficiency	skos:exactMatch	MIM:PS252011	Mitochondrial complex II deficiency, nuclear type 1	semapv:ManualMappingCuration	2021-03-09
DOID:0060539	Hermansky-Pudlak syndrome 1	skos:exactMatch	MIM:203300	Hermansky-Pudlak syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060540	Hermansky-Pudlak syndrome 2	skos:exactMatch	MIM:608233	Hermansky-Pudlak syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060541	Hermansky-Pudlak syndrome 3	skos:exactMatch	MIM:614072	Hermansky-Pudlak syndrome 3	semapv:ManualMappingCuration	2014-09-09
DOID:0060542	Hermansky-Pudlak syndrome 4	skos:exactMatch	MIM:614073	Hermansky-Pudlak syndrome 4	semapv:ManualMappingCuration	2014-09-09
DOID:0060543	Hermansky-Pudlak syndrome 5	skos:exactMatch	MIM:614074	Hermansky-Pudlak syndrome 5	semapv:ManualMappingCuration	2014-09-09
DOID:0060544	Hermansky-Pudlak syndrome 6	skos:exactMatch	MIM:614075	Hermansky-Pudlak syndrome 6	semapv:ManualMappingCuration	2014-09-09
DOID:0060545	Hermansky-Pudlak syndrome 7	skos:exactMatch	MIM:614076	Hermansky-Pudlak syndrome 7	semapv:ManualMappingCuration	2014-09-09
DOID:0060546	Hermansky-Pudlak syndrome 8	skos:exactMatch	MIM:614077	Hermansky-Pudlak syndrome 8	semapv:ManualMappingCuration	2014-09-09
DOID:0060547	Hermansky-Pudlak syndrome 9	skos:exactMatch	MIM:614171	Hermansky-Pudlak syndrome 9	semapv:ManualMappingCuration	2014-09-09
DOID:0060549	Barber-Say syndrome	skos:exactMatch	MIM:209885	Barber-Say syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0060550	ablepharon macrostomia syndrome	skos:exactMatch	MIM:200110	Ablepharon-macrostomia syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0060551	poikiloderma with neutropenia	skos:exactMatch	MIM:604173	Poikiloderma with neutropenia	semapv:ManualMappingCuration	2017-10-03
DOID:0060556	Kufor-Rakeb syndrome	skos:exactMatch	MIM:606693	Kufor-Rakeb syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060557	ataxia with oculomotor apraxia type 3	skos:exactMatch	MIM:615217	Ataxia-oculomotor apraxia 3	semapv:ManualMappingCuration	2014-09-02
DOID:0060558	lethal congenital contracture syndrome	skos:exactMatch	MIM:PS253310	Lethal congenital contracture syndrome 1	semapv:ManualMappingCuration	2018-06-29
DOID:0060559	lethal congenital contracture syndrome 1	skos:exactMatch	MIM:253310	Lethal congenital contracture syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060560	lethal congenital contracture syndrome 2	skos:exactMatch	MIM:607598	?Lethal congenital contractural syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060563	Char syndrome	skos:exactMatch	MIM:169100	Char syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060565	Ritscher-Schinzel syndrome	skos:exactMatch	MIM:PS220210	Ritscher-Schinzel syndrome 1	semapv:ManualMappingCuration	2018-06-29
DOID:0060566	Holzgreve-Wagner-Rehder syndrome	skos:exactMatch	MIM:236110	HOLZGREVE SYNDROME	semapv:ManualMappingCuration	2018-08-22
DOID:0060569	hypertrichotic osteochondrodysplasia Cantu type	skos:exactMatch	MIM:239850	Hypertrichotic osteochondrodysplasia (Cantu syndrome)	semapv:ManualMappingCuration	2014-10-20
DOID:0060571	Ritscher-Schinzel syndrome 1	skos:exactMatch	MIM:220210	Ritscher-Schinzel syndrome 1	semapv:ManualMappingCuration	2018-10-10
DOID:0060572	Ritscher-Schinzel syndrome 2	skos:exactMatch	MIM:300963	Ritscher-Schinzel syndrome 2	semapv:ManualMappingCuration	2015-12-08
DOID:0060573	von Willebrand's disease 1	skos:exactMatch	MIM:193400	von Willebrand disease, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060574	von Willebrand's disease 2	skos:exactMatch	MIM:613554	von Willebrand disease, types 2A, 2B, 2M, and 2N	semapv:ManualMappingCuration	2017-10-03
DOID:0060575	3MC syndrome 1	skos:exactMatch	MIM:257920	3MC syndrome 1	semapv:ManualMappingCuration	2014-10-20
DOID:0060576	3MC syndrome 2	skos:exactMatch	MIM:265050	3MC syndrome 2	semapv:ManualMappingCuration	2014-10-20
DOID:0060577	3MC syndrome 3	skos:exactMatch	MIM:248340	3MC syndrome 3	semapv:ManualMappingCuration	2017-10-18
DOID:0060578	Noonan syndrome 1	skos:exactMatch	MIM:163950	Noonan syndrome 1	semapv:ManualMappingCuration	2017-09-20
DOID:0060580	Noonan syndrome 2	skos:exactMatch	MIM:605275	Noonan syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060581	Noonan syndrome 3	skos:exactMatch	MIM:609942	Noonan syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:0060582	Noonan syndrome 4	skos:exactMatch	MIM:610733	Noonan syndrome 4	semapv:ManualMappingCuration	2017-10-03
DOID:0060583	Noonan syndrome 5	skos:exactMatch	MIM:611553	Noonan syndrome 5	semapv:ManualMappingCuration	2017-10-03
DOID:0060584	Noonan syndrome 6	skos:exactMatch	MIM:613224	Noonan syndrome 6	semapv:ManualMappingCuration	2017-10-03
DOID:0060585	Noonan syndrome 7	skos:exactMatch	MIM:613706	Noonan syndrome 7	semapv:ManualMappingCuration	2014-06-23
DOID:0060586	Noonan syndrome 8	skos:exactMatch	MIM:615355	Noonan syndrome 8	semapv:ManualMappingCuration	2014-09-09
DOID:0060587	Noonan syndrome 9	skos:exactMatch	MIM:616559	Noonan syndrome 9	semapv:ManualMappingCuration	2016-07-12
DOID:0060588	Noonan syndrome 10	skos:exactMatch	MIM:616564	Noonan syndrome 10	semapv:ManualMappingCuration	2017-03-30
DOID:0060589	Yunis-Varon syndrome	skos:exactMatch	MIM:216340	Yunis-Varon syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0060590	XFE progeroid syndrome	skos:exactMatch	MIM:610965	XFE progeroid syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060591	WHIM syndrome 1	skos:exactMatch	MIM:193670	WHIM syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060599	Nance-Horan syndrome	skos:exactMatch	MIM:302350	Nance-Horan syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060601	alpha-2-plasmin inhibitor deficiency	skos:exactMatch	MIM:262850	Alpha-2-plasmin inhibitor deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0060602	alpha-methylacyl-CoA racemase deficiency	skos:exactMatch	MIM:614307	Alpha-methylacyl-CoA racemase deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:0060603	isolated anhidrosis with normal sweat glands	skos:exactMatch	MIM:106190	?Anhidrosis, isolated, with normal sweat glands	semapv:ManualMappingCuration	2017-02-14
DOID:0060604	ankyloglossia	skos:exactMatch	MIM:106280	ANKYLOGLOSSIA WITH OR WITHOUT TOOTH ANOMALIES	semapv:ManualMappingCuration	2017-10-10
DOID:0060608	microcephalic osteodysplastic primordial dwarfism type I	skos:exactMatch	MIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II	skos:exactMatch	MIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome	skos:exactMatch	MIM:155310	Visceral myopathy 1	semapv:ManualMappingCuration	2014-07-14
DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome	skos:exactMatch	MIM:PS249210	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	semapv:ManualMappingCuration	2022-02-01
DOID:0060611	abdominal obesity-metabolic syndrome	skos:exactMatch	MIM:PS605552	Abdominal obesity-metabolic syndrome 1	semapv:ManualMappingCuration	2018-06-29
DOID:0060612	abdominal obesity-metabolic syndrome 3	skos:exactMatch	MIM:615812	Abdominal obesity-metabolic syndrome 3	semapv:ManualMappingCuration	2014-09-09
DOID:0060613	X-linked cleft palate with or without ankyloglossia	skos:exactMatch	MIM:303400	Cleft palate with ankyloglossia	semapv:ManualMappingCuration	2017-10-03
DOID:0060614	ulnar-mammary syndrome	skos:exactMatch	MIM:181450	Ulnar-mammary syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060638	neonatal diabetes mellitus with congenital hypothyroidism	skos:exactMatch	MIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	semapv:ManualMappingCuration	2017-10-03
DOID:0060639	permanent neonatal diabetes mellitus	skos:exactMatch	MIM:PS606176	Diabetes mellitus, permanent neonatal 1	semapv:ManualMappingCuration	2020-09-16
DOID:0060640	ethylmalonic encephalopathy	skos:exactMatch	MIM:602473	Ethylmalonic encephalopathy	semapv:ManualMappingCuration	2017-10-03
DOID:0060641	endocrine-cerebro-osteodysplasia syndrome	skos:exactMatch	MIM:612651	Endocrine-cerebroosteodysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0060643	primary sclerosing cholangitis	skos:exactMatch	MIM:613806	Cholangitis, primary sclerosing	semapv:ManualMappingCuration	2018-01-09
DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome	skos:exactMatch	MIM:600092	Nivelon-Nivelon-Mabille syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060645	chronic recurrent multifocal osteomyelitis	skos:exactMatch	MIM:PS609628	Majeed syndrome	semapv:ManualMappingCuration	2024-04-30
DOID:0060646	congenital chylothorax	skos:exactMatch	MIM:603523	CHYLOTHORAX, CONGENITAL	semapv:ManualMappingCuration	2017-10-03
DOID:0060647	fetal encasement syndrome	skos:exactMatch	MIM:613630	?Cocoon syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0060648	anterior segment dysgenesis	skos:exactMatch	MIM:PS107250	Anterior segment dysgenesis 1, multiple subtypes	semapv:ManualMappingCuration	2019-03-21
DOID:0060649	congenital hereditary endothelial dystrophy of cornea	skos:exactMatch	MIM:217700	Corneal endothelial dystrophy, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0060650	dicarboxylic aminoaciduria	skos:exactMatch	MIM:222730	Dicarboxylic aminoaciduria	semapv:ManualMappingCuration	2017-10-03
DOID:0060651	MYH-9 related disease	skos:exactMatch	MIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	semapv:ManualMappingCuration	2017-10-03
DOID:0060652	familial erythrocytosis 1	skos:exactMatch	MIM:133100	Erythrocytosis, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:0060653	lethal congenital contracture syndrome 3	skos:exactMatch	MIM:611369	Lethal congenital contractural syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:0060654	lethal congenital contracture syndrome 4	skos:exactMatch	MIM:614915	Lethal congenital contracture syndrome 4	semapv:ManualMappingCuration	2014-09-09
DOID:0060655	autosomal recessive congenital ichthyosis	skos:exactMatch	MIM:PS242300	Ichthyosis, congenital, autosomal recessive 1	semapv:ManualMappingCuration	2018-06-29
DOID:0060656	autosomal recessive congenital ichthyosis 1	skos:exactMatch	MIM:242300	Ichthyosis, congenital, autosomal recessive 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060668	anencephaly	skos:exactMatch	MIM:PS206500	?Anencephaly 1	semapv:ManualMappingCuration	2021-07-27
DOID:0060669	cerebral cavernous malformation	skos:exactMatch	MIM:PS116860	Cavernous malformations of CNS and retina	semapv:ManualMappingCuration	2021-08-13
DOID:0060670	cerebral cavernous malformation 2	skos:exactMatch	MIM:603284	Cerebral cavernous malformations-2	semapv:ManualMappingCuration	2017-10-03
DOID:0060671	cerebral cavernous malformation 3	skos:exactMatch	MIM:603285	Cerebral cavernous malformations-3	semapv:ManualMappingCuration	2017-10-03
DOID:0060672	GRN-related frontotemporal lobar degeneration with TDP43 inclusions	skos:exactMatch	MIM:607485	Frontotemporal dementia 2	semapv:ManualMappingCuration	2014-06-23
DOID:0060674	catecholaminergic polymorphic ventricular tachycardia	skos:exactMatch	MIM:PS604772	Ventricular tachycardia, catecholaminergic polymorphic, 1	semapv:ManualMappingCuration	2018-06-29
DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1	skos:exactMatch	MIM:604772	Ventricular tachycardia, catecholaminergic polymorphic, 1	semapv:ManualMappingCuration	2014-06-23
DOID:0060676	catecholaminergic polymorphic ventricular tachycardia 2	skos:exactMatch	MIM:611938	Ventricular tachycardia, catecholaminergic polymorphic, 2	semapv:ManualMappingCuration	2017-07-27
DOID:0060677	catecholaminergic polymorphic ventricular tachycardia 3	skos:exactMatch	MIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3	semapv:ManualMappingCuration	2017-07-27
DOID:0060678	catecholaminergic polymorphic ventricular tachycardia 4	skos:exactMatch	MIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4	semapv:ManualMappingCuration	2014-09-02
DOID:0060679	catecholaminergic polymorphic ventricular tachycardia 5	skos:exactMatch	MIM:615441	Cardiac arrhythmia syndrome, with or without skeletal muscle weakness	semapv:ManualMappingCuration	2014-09-09
DOID:0060680	pigment dispersion syndrome	skos:exactMatch	MIM:600510	Ocular pigment dispersion with or without glaucoma	semapv:ManualMappingCuration	2017-10-03
DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy	skos:exactMatch	MIM:PS600513	Epilepsy, nocturnal frontal lobe, 1	semapv:ManualMappingCuration	2018-06-29
DOID:0060682	autosomal dominant nocturnal frontal lobe epilepsy 1	skos:exactMatch	MIM:600513	Epilepsy, nocturnal frontal lobe, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060683	autosomal dominant nocturnal frontal lobe epilepsy 2	skos:exactMatch	MIM:603204	Epilepsy, nocturnal frontal lobe, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060684	autosomal dominant nocturnal frontal lobe epilepsy 3	skos:exactMatch	MIM:605375	Epilepsy, nocturnal frontal lobe, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0060685	autosomal dominant nocturnal frontal lobe epilepsy 4	skos:exactMatch	MIM:610353	Epilepsy, nocturnal frontal lobe, type 4	semapv:ManualMappingCuration	2017-10-03
DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5	skos:exactMatch	MIM:615005	Epilepsy nocturnal frontal lobe, 5	semapv:ManualMappingCuration	2014-09-09
DOID:0060688	arteriovenous malformations of the brain	skos:exactMatch	MIM:108010	{Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0060689	atrichia with papular lesions	skos:exactMatch	MIM:209500	Atrichia with papular lesions	semapv:ManualMappingCuration	2017-10-03
DOID:0060690	autosomal dominant auditory neuropathy 1	skos:exactMatch	MIM:609129	Auditory neuropathy, autosomal dominant 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060691	platelet-type bleeding disorder 16	skos:exactMatch	MIM:187800	Bleeding disorder, platelet-type, 16, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0060692	platelet-type bleeding disorder 8	skos:exactMatch	MIM:609821	Bleeding disorder, platelet-type, 8	semapv:ManualMappingCuration	2014-06-23
DOID:0060693	Brunner syndrome	skos:exactMatch	MIM:300615	Brunner syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060694	Cayman type cerebellar ataxia	skos:exactMatch	MIM:601238	Ataxia, cerebellar, Cayman type	semapv:ManualMappingCuration	2017-10-03
DOID:0060695	hyperekplexia	skos:exactMatch	MIM:PS149400	Hyperekplexia 1	semapv:ManualMappingCuration	2019-03-20
DOID:0060696	hyperekplexia 1	skos:exactMatch	MIM:149400	Hyperekplexia 1	semapv:ManualMappingCuration	2018-01-16
DOID:0060697	hyperekplexia 2	skos:exactMatch	MIM:614619	Hyperekplexia 2	semapv:ManualMappingCuration	2014-09-09
DOID:0060698	hyperekplexia 3	skos:exactMatch	MIM:614618	Hyperekplexia 3	semapv:ManualMappingCuration	2014-09-09
DOID:0060699	familial hypocalciuric hypercalcemia	skos:exactMatch	MIM:PS145980	Hypocalciuric hypercalcemia, type I	semapv:ManualMappingCuration	2018-06-29
DOID:0060700	familial hypocalciuric hypercalcemia 1	skos:exactMatch	MIM:145980	Hypocalciuric hypercalcemia, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0060701	familial hypocalciuric hypercalcemia 2	skos:exactMatch	MIM:145981	Hypocalciuric hypercalcemia, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0060702	familial hypocalciuric hypercalcemia 3	skos:exactMatch	MIM:600740	Hypocalciuric hypercalcemia, type III	semapv:ManualMappingCuration	2017-10-03
DOID:0060703	Muenke syndrome	skos:exactMatch	MIM:602849	Muenke syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060704	lymphoproliferative syndrome	skos:exactMatch	MIM:PS308240	Lymphoproliferative syndrome, X-linked, 1	semapv:ManualMappingCuration	2018-06-29
DOID:0060705	X-linked lymphoproliferative syndrome 1	skos:exactMatch	MIM:308240	Lymphoproliferative syndrome, X-linked, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060706	X-linked lymphoproliferative syndrome 2	skos:exactMatch	MIM:300635	Lymphoproliferative syndrome, X-linked, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060707	lymphoproliferative syndrome 1	skos:exactMatch	MIM:613011	Lymphoproliferative syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060708	lymphoproliferative syndrome 2	skos:exactMatch	MIM:615122	Lymphoproliferative syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:0060710	autosomal recessive congenital ichthyosis 2	skos:exactMatch	MIM:242100	Ichthyosis, congenital, autosomal recessive 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060711	autosomal recessive congenital ichthyosis 3	skos:exactMatch	MIM:606545	Ichthyosis, congenital, autosomal recessive 3	semapv:ManualMappingCuration	2017-10-03
DOID:0060712	autosomal recessive congenital ichthyosis 4A	skos:exactMatch	MIM:601277	Ichthyosis, congenital, autosomal recessive 4A	semapv:ManualMappingCuration	2017-10-03
DOID:0060713	autosomal recessive congenital ichthyosis 4B	skos:exactMatch	MIM:242500	Ichthyosis, congenital, autosomal recessive 4B (harlequin)	semapv:ManualMappingCuration	2017-10-03
DOID:0060714	autosomal recessive congenital ichthyosis 5	skos:exactMatch	MIM:604777	Ichthyosis, congenital, autosomal recessive 5	semapv:ManualMappingCuration	2017-10-03
DOID:0060715	autosomal recessive congenital ichthyosis 6	skos:exactMatch	MIM:612281	Ichthyosis, congenital, autosomal recessive 6	semapv:ManualMappingCuration	2014-06-23
DOID:0060716	autosomal recessive congenital ichthyosis 7	skos:exactMatch	MIM:615022	Ichthyosis, congenital, autosomal recessive 7	semapv:ManualMappingCuration	2018-08-22
DOID:0060717	autosomal recessive congenital ichthyosis 8	skos:exactMatch	MIM:613943	Ichthyosis, congenital, autosomal recessive 8	semapv:ManualMappingCuration	2014-09-09
DOID:0060718	autosomal recessive congenital ichthyosis 9	skos:exactMatch	MIM:615023	Ichthyosis, congenital, autosomal recessive 9	semapv:ManualMappingCuration	2014-09-09
DOID:0060719	autosomal recessive congenital ichthyosis 10	skos:exactMatch	MIM:615024	Ichthyosis, congenital, autosomal recessive 10	semapv:ManualMappingCuration	2014-09-09
DOID:0060720	autosomal recessive congenital ichthyosis 11	skos:exactMatch	MIM:602400	Ichthyosis, congenital, autosomal recessive 11	semapv:ManualMappingCuration	2017-10-03
DOID:0060728	congenital disorder of deglycosylation 1	skos:exactMatch	MIM:615273	Congenital disorder of deglycosylation 1	semapv:ManualMappingCuration	2014-09-09
DOID:0060730	torsion dystonia 1	skos:exactMatch	MIM:128100	Dystonia-1, torsion	semapv:ManualMappingCuration	2017-10-03
DOID:0060731	congenital central hypoventilation syndrome	skos:exactMatch	MIM:PS209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	semapv:ManualMappingCuration	2022-04-11
DOID:0060732	chromosome 9p deletion syndrome	skos:exactMatch	MIM:158170	Chromosome 9p deletion syndrome	semapv:ManualMappingCuration	2018-08-21
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia	skos:exactMatch	MIM:226730	Epidermolysis bullosa, junctional 5B, with pyloric atresia	semapv:ManualMappingCuration	2017-10-03
DOID:0060733	junctional epidermolysis bullosa with pyloric atresia	skos:exactMatch	MIM:619817	Epidermolysis bullosa, junctional 6, with pyloric atresia	semapv:ManualMappingCuration	2022-03-30
DOID:0060736	epidermolysis bullosa simplex Ogna type	skos:exactMatch	MIM:131950	Epidermolysis bullosa simplex 5A, Ogna type	semapv:ManualMappingCuration	2017-10-03
DOID:0060739	hand-foot-genital syndrome	skos:exactMatch	MIM:140000	Hand-foot-genital syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	skos:exactMatch	MIM:251000	Methylmalonic aciduria, mut(0) type	semapv:ManualMappingCuration	2017-10-03
DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect	skos:exactMatch	MIM:613646	Methylmalonic aciduria, transient, due to transcobalamin receptor defect	semapv:ManualMappingCuration	2014-06-23
DOID:0060742	methylmalonic acidemia cblA type	skos:exactMatch	MIM:251100	Methylmalonic aciduria, vitamin B12-responsive, cblA type	semapv:ManualMappingCuration	2017-10-03
DOID:0060743	methylmalonic acidemia cblB type	skos:exactMatch	MIM:251110	Methylmalonic aciduria, vitamin B12-responsive, cblB type	semapv:ManualMappingCuration	2017-10-03
DOID:0060744	Pendred syndrome	skos:exactMatch	MIM:274600	Pendred syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060745	Doyne honeycomb retinal dystrophy	skos:exactMatch	MIM:126600	Doyne honeycomb degeneration of retina	semapv:ManualMappingCuration	2017-10-03
DOID:0060746	basal laminar drusen	skos:exactMatch	MIM:126700	Basal laminar drusen	semapv:ManualMappingCuration	2017-10-03
DOID:0060747	Duane-radial ray syndrome	skos:exactMatch	MIM:607323	Duane-radial ray syndrome	semapv:ManualMappingCuration	2018-04-25
DOID:0060748	familial temporal lobe epilepsy 1	skos:exactMatch	MIM:600512	Epilepsy, familial temporal lobe, 1	semapv:ManualMappingCuration	2014-06-23
DOID:0060749	familial temporal lobe epilepsy 6	skos:exactMatch	MIM:615697	Epilepsy, familial temporal lobe, 6	semapv:ManualMappingCuration	2018-08-21
DOID:0060750	familial temporal lobe epilepsy 3	skos:exactMatch	MIM:611630	Epilepsy, familial temporal lobe, 3	semapv:ManualMappingCuration	2014-06-23
DOID:0060751	familial temporal lobe epilepsy 7	skos:exactMatch	MIM:616436	{Epilepsy, familial temporal lobe, 7}	semapv:ManualMappingCuration	2017-03-09
DOID:0060752	familial temporal lobe epilepsy 5	skos:exactMatch	MIM:614417	Epilepsy, familial temporal lobe, 5	semapv:ManualMappingCuration	2014-09-09
DOID:0060753	familial temporal lobe epilepsy 4	skos:exactMatch	MIM:611631	Epilepsy, familial temporal lobe, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0060754	familial temporal lobe epilepsy 8	skos:exactMatch	MIM:616461	?Epilepsy, familial temporal lobe, 8	semapv:ManualMappingCuration	2017-03-09
DOID:0060755	familial temporal lobe epilepsy 2	skos:exactMatch	MIM:608096	Epilepsy, familial temporal lobe, 2	semapv:ManualMappingCuration	2014-06-23
DOID:0060756	sclerosteosis 1	skos:exactMatch	MIM:269500	Sclerosteosis 1	semapv:ManualMappingCuration	2018-03-13
DOID:0060757	sclerosteosis 2	skos:exactMatch	MIM:614305	Sclerosteosis 2	semapv:ManualMappingCuration	2014-09-09
DOID:0060758	immunodeficiency with hyper-IgM type 2	skos:exactMatch	MIM:605258	Immunodeficiency with hyper-IgM, type 2	semapv:ManualMappingCuration	2018-08-24
DOID:0060759	immunodeficiency with hyper IgM type 5	skos:exactMatch	MIM:608106	Immunodeficiency with hyper IgM, type 5	semapv:ManualMappingCuration	2018-07-20
DOID:0060760	immunodeficiency with hyper-IgM type 4	skos:exactMatch	MIM:608184	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4	semapv:ManualMappingCuration	2018-08-22
DOID:0060761	familial chronic myelocytic leukemia-like syndrome	skos:exactMatch	MIM:600080	MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC	semapv:ManualMappingCuration	2017-10-03
DOID:0060762	restrictive dermopathy	skos:exactMatch	MIM:PS275210	Restrictive dermopathy 1	semapv:ManualMappingCuration	2022-04-19
DOID:0060763	X-linked juvenile retinoschisis 1	skos:exactMatch	MIM:312700	Retinoschisis	semapv:ManualMappingCuration	2018-03-06
DOID:0060764	autosomal recessive Robinow syndrome	skos:exactMatch	MIM:268310	Robinow syndrome, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0060765	autosomal dominant Robinow syndrome 2	skos:exactMatch	MIM:616331	Robinow syndrome, autosomal dominant 2	semapv:ManualMappingCuration	2017-04-03
DOID:0060766	autosomal dominant Robinow syndrome 1	skos:exactMatch	MIM:180700	Robinow syndrome, autosomal dominant 1	semapv:ManualMappingCuration	2018-01-31
DOID:0060767	autosomal dominant Robinow syndrome 3	skos:exactMatch	MIM:616894	Robinow syndrome, autosomal dominant 3	semapv:ManualMappingCuration	2016-04-19
DOID:0060768	Smith-Magenis syndrome	skos:exactMatch	MIM:182290	Smith-Magenis syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060769	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	skos:exactMatch	MIM:601705	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0060770	dextro-looped transposition of the great arteries	skos:exactMatch	MIM:608808	TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED	semapv:ManualMappingCuration	2017-10-03
DOID:0060772	multiple types of congenital heart defects 6	skos:exactMatch	MIM:613854	Congenital heart defects, multiple types, 6	semapv:ManualMappingCuration	2014-09-02
DOID:0060773	cleft lip-palate-ectodermal dysplasia syndrome	skos:exactMatch	MIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060774	congenital diarrhea	skos:exactMatch	MIM:PS214700	Diarrhea 1, secretory chloride, congenital	semapv:ManualMappingCuration	2018-06-29
DOID:0060775	microvillus inclusion disease	skos:exactMatch	MIM:251850	Diarrhea 2, with microvillus atrophy, with or without cholestasis	semapv:ManualMappingCuration	2017-10-03
DOID:0060776	congenital diarrhea 5 with tufting enteropathy	skos:exactMatch	MIM:613217	Diarrhea 5, with tufting enteropathy, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:0060777	congenital secretory sodium diarrhea 8	skos:exactMatch	MIM:616868	Diarrhea 8, secretory sodium, congenital	semapv:ManualMappingCuration	2017-10-10
DOID:0060778	congenital diarrhea 7 with exudative enteropathy	skos:exactMatch	MIM:615863	Diarrhea 7, protein-losing enteropathy type	semapv:ManualMappingCuration	2019-08-30
DOID:0060779	congenital malabsorptive diarrhea 4	skos:exactMatch	MIM:610370	Diarrhea 4, malabsorptive, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:0060780	congenital diarrhea 6	skos:exactMatch	MIM:614616	Diarrhea 6	semapv:ManualMappingCuration	2014-09-09
DOID:0060781	congenital secretory sodium diarrhea 3	skos:exactMatch	MIM:270420	Diarrhea 3, secretory sodium, congenital, syndromic	semapv:ManualMappingCuration	2017-10-03
DOID:0060783	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	skos:exactMatch	MIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:0060784	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1	skos:exactMatch	MIM:129900	?EEC syndrome-1	semapv:ManualMappingCuration	2017-10-03
DOID:0060785	adult-onset autosomal dominant demyelinating leukodystrophy	skos:exactMatch	MIM:169500	Leukodystrophy, adult-onset, autosomal dominant	semapv:ManualMappingCuration	2017-05-01
DOID:0060786	hypomyelinating leukodystrophy	skos:exactMatch	MIM:PS312080	Pelizaeus-Merzbacher disease	semapv:ManualMappingCuration	2018-06-29
DOID:0060787	hypomyelinating leukodystrophy 2	skos:exactMatch	MIM:608804	Leukodystrophy, hypomyelinating, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060788	hypomyelinating leukodystrophy 10	skos:exactMatch	MIM:616420	Leukodystrophy, hypomyelinating, 10	semapv:ManualMappingCuration	2017-05-02
DOID:0060789	hypomyelinating leukodystrophy 4	skos:exactMatch	MIM:612233	Leukodystrophy, hypomyelinating, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0060790	hypomyelinating leukodystrophy 3	skos:exactMatch	MIM:260600	Leukodystrophy, hypomyelinating, 3	semapv:ManualMappingCuration	2014-10-20
DOID:0060791	hypomyelinating leukodystrophy 9	skos:exactMatch	MIM:616140	Leukodystrophy, hypomyelinating, 9	semapv:ManualMappingCuration	2017-01-31
DOID:0060792	hypomyelinating leukodystrophy 11	skos:exactMatch	MIM:616494	Leukodystrophy, hypomyelinating, 11	semapv:ManualMappingCuration	2017-05-02
DOID:0060793	hypomyelinating leukodystrophy 5	skos:exactMatch	MIM:610532	Leukodystrophy, hypomyelinating, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0060794	hypomyelinating leukodystrophy 7	skos:exactMatch	MIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	semapv:ManualMappingCuration	2014-10-20
DOID:0060795	hypomyelinating leukodystrophy 13	skos:exactMatch	MIM:616881	Leukodystrophy, hypomyelinating, 13	semapv:ManualMappingCuration	2016-04-14
DOID:0060796	hypomyelinating leukodystrophy 12	skos:exactMatch	MIM:616683	Leukodystrophy, hypomyelinating, 12	semapv:ManualMappingCuration	2016-02-09
DOID:0060797	hypomyelinating leukodystrophy 8	skos:exactMatch	MIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	semapv:ManualMappingCuration	2014-09-09
DOID:0060798	hypomyelinating leukodystrophy 6	skos:exactMatch	MIM:612438	Leukodystrophy, hypomyelinating, 6	semapv:ManualMappingCuration	2014-10-20
DOID:0060799	syndromic X-linked intellectual disability Lubs type	skos:exactMatch	MIM:300260	Intellectual developmental disorder, X-linked syndromic, Lubs type	semapv:ManualMappingCuration	2017-10-03
DOID:0060800	syndromic X-linked intellectual disability 5	skos:exactMatch	MIM:304340	Pettigrew syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060801	MEHMO syndrome	skos:exactMatch	MIM:300148	MEHMO syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060802	syndromic X-linked intellectual disability Snyder type	skos:exactMatch	MIM:309583	Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type	semapv:ManualMappingCuration	2017-10-03
DOID:0060803	syndromic X-linked intellectual disability 17	skos:exactMatch	MIM:300858	Intellectual developmental disorder, X-linked syndromic 17	semapv:ManualMappingCuration	2018-08-21
DOID:0060804	syndromic X-linked intellectual disability 12	skos:exactMatch	MIM:309545	?Intellectual developmental disorder, X-linked syndromic 12	semapv:ManualMappingCuration	2017-10-03
DOID:0060805	Prieto syndrome	skos:exactMatch	MIM:309610	Prieto syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060806	syndromic X-linked intellectual disability Hedera type	skos:exactMatch	MIM:300423	Intellectual developmental disorder, X-linked syndromic, Hedera type	semapv:ManualMappingCuration	2017-10-03
DOID:0060807	syndromic X-linked intellectual disability Najm type	skos:exactMatch	MIM:300749	Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0060808	syndromic X-linked intellectual disability 7	skos:exactMatch	MIM:300218	Intellectual developmental disorder, X-linked syndromic 7	semapv:ManualMappingCuration	2017-10-03
DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type	skos:exactMatch	MIM:300534	Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type	semapv:ManualMappingCuration	2017-10-03
DOID:0060810	syndromic X-linked intellectual disability type 10	skos:exactMatch	MIM:300438	HSD10 mitochondrial disease	semapv:ManualMappingCuration	2017-10-03
DOID:0060811	syndromic X-linked intellectual disability Turner type	skos:exactMatch	MIM:300612	null	semapv:ManualMappingCuration	2018-08-22
DOID:0060811	syndromic X-linked intellectual disability Turner type	skos:exactMatch	MIM:309590	Intellectual developmental disorder, X-linked syndromic, Turner type	semapv:ManualMappingCuration	2017-10-03
DOID:0060812	syndromic X-linked intellectual disability Siderius type	skos:exactMatch	MIM:300263	Intellectual developmental disorder, X-linked syndromic, Siderius type	semapv:ManualMappingCuration	2017-10-03
DOID:0060813	syndromic X-linked intellectual disability Shrimpton type	skos:exactMatch	MIM:300709	Intellectual developmental disorder, X-linked syndromic 9	semapv:ManualMappingCuration	2018-04-27
DOID:0060814	Wilson-Turner syndrome	skos:exactMatch	MIM:309585	Wilson-Turner syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060815	Miles-Carpenter syndrome	skos:exactMatch	MIM:314580	Wieacker-Wolff syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060815	Miles-Carpenter syndrome	skos:exactMatch	MIM:PS314580	Wieacker-Wolff syndrome	semapv:ManualMappingCuration	2022-11-21
DOID:0060816	corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	skos:exactMatch	MIM:300472	?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia	semapv:ManualMappingCuration	2017-10-03
DOID:0060817	syndromic X-linked intellectual disability 34	skos:exactMatch	MIM:300967	Intellectual developmental disorder, X-linked syndromic 34	semapv:ManualMappingCuration	2016-03-11
DOID:0060818	syndromic X-linked intellectual disability Abidi type	skos:exactMatch	MIM:300262	Intellectual developmental disorder, X-linked syndromic, Abidi type	semapv:ManualMappingCuration	2017-10-03
DOID:0060819	syndromic X-linked intellectual disability Chudley-Schwartz type	skos:exactMatch	MIM:300861	Intellectual developmental disorder, X-linked syndromic, Chudley-Schwartz type	semapv:ManualMappingCuration	2018-06-01
DOID:0060820	syndromic X-linked intellectual disability Nascimento type	skos:exactMatch	MIM:300860	Intellectual developmental disorder, X-linked syndromic, Nascimento type	semapv:ManualMappingCuration	2014-09-09
DOID:0060821	syndromic X-linked intellectual disability 14	skos:exactMatch	MIM:300676	Intellectual developmental disorder, X-linked syndromic 14	semapv:ManualMappingCuration	2017-10-03
DOID:0060822	syndromic X-linked intellectual disability Cabezas type	skos:exactMatch	MIM:300354	Intellectual developmental disorder, X-linked syndromic, Cabezas type	semapv:ManualMappingCuration	2014-06-23
DOID:0060823	syndromic X-linked intellectual disability 94	skos:exactMatch	MIM:300699	Intellectual developmental disorder, X-linked syndromic, Wu type	semapv:ManualMappingCuration	2017-10-03
DOID:0060824	syndromic X-linked intellectual disability Raymond type	skos:exactMatch	MIM:300799	Intellectual developmental disorder, X-linked syndromic, Raymond type	semapv:ManualMappingCuration	2014-06-23
DOID:0060825	Christianson syndrome	skos:exactMatch	MIM:300243	Intellectual developmental disorder, X-linked syndromic, Christianson type	semapv:ManualMappingCuration	2017-10-03
DOID:0060826	syndromic X-linked intellectual disability Shashi type	skos:exactMatch	MIM:300238	?Intellectual developmental disorder, X-linked syndromic, Shashi type	semapv:ManualMappingCuration	2017-10-03
DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome	skos:exactMatch	MIM:300055	Intellectual developmental disorder, X-linked syndromic 13	semapv:ManualMappingCuration	2017-10-03
DOID:0060828	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	skos:exactMatch	MIM:300886	Intellectual developmental disorder, X-linked, syndromic 32	semapv:ManualMappingCuration	2014-09-09
DOID:0060830	deafness-intellectual disability, Martin-Probst type syndrome	skos:exactMatch	MIM:300519	Martin-Probst syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060831	Griscelli syndrome	skos:exactMatch	MIM:PS214450	Griscelli syndrome, type 1	semapv:ManualMappingCuration	2018-06-29
DOID:0060832	Griscelli syndrome type 1	skos:exactMatch	MIM:214450	Griscelli syndrome, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060833	Griscelli syndrome type 2	skos:exactMatch	MIM:607624	Griscelli syndrome, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060834	Griscelli syndrome type 3	skos:exactMatch	MIM:609227	Griscelli syndrome, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:0060835	isolated microphthalmia 6	skos:exactMatch	MIM:613517	Microphthalmia, isolated 6	semapv:ManualMappingCuration	2014-06-23
DOID:0060836	isolated microphthalmia 4	skos:exactMatch	MIM:613094	Microphthalmia, isolated 4	semapv:ManualMappingCuration	2017-10-03
DOID:0060837	isolated microphthalmia 5	skos:exactMatch	MIM:611040	Microphthalmia, isolated 5	semapv:ManualMappingCuration	2014-06-23
DOID:0060838	isolated microphthalmia 7	skos:exactMatch	MIM:613704	Microphthalmia, isolated 7	semapv:ManualMappingCuration	2014-06-23
DOID:0060839	isolated microphthalmia 2	skos:exactMatch	MIM:610093	Microphthalmia, isolated 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060840	isolated microphthalmia 1	skos:exactMatch	MIM:251600	Microphthalmia, isolated 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060841	isolated microphthalmia 8	skos:exactMatch	MIM:615113	Microphthalmia, isolated 8	semapv:ManualMappingCuration	2014-09-09
DOID:0060842	isolated microphthalmia 3	skos:exactMatch	MIM:611038	Microphthalmia, syndromic 16	semapv:ManualMappingCuration	2017-10-03
DOID:0060843	hereditary neuropathy with liability to pressure palsies	skos:exactMatch	MIM:162500	Neuropathy, recurrent, with pressure palsies	semapv:ManualMappingCuration	2017-10-03
DOID:0060844	Norrie disease	skos:exactMatch	MIM:310600	Norrie disease	semapv:ManualMappingCuration	2017-10-03
DOID:0060847	Leri-Weill dyschondrosteosis	skos:exactMatch	MIM:127300	Leri-Weill dyschondrosteosis	semapv:ManualMappingCuration	2017-10-03
DOID:0060848	developmental and epileptic encephalopathy 9	skos:exactMatch	MIM:300088	Developmental and epileptic encephalopathy 9	semapv:ManualMappingCuration	2017-10-03
DOID:0060849	osteoporosis-pseudoglioma syndrome	skos:exactMatch	MIM:259770	Osteoporosis-pseudoglioma syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060850	annular pancreas	skos:exactMatch	MIM:167750	PANCREAS, ANNULAR	semapv:ManualMappingCuration	2017-10-03
DOID:0060851	pemphigus vulgaris	skos:exactMatch	MIM:169610	PEMPHIGUS VULGARIS, FAMILIAL	semapv:ManualMappingCuration	2017-10-03
DOID:0060852	Pierson syndrome	skos:exactMatch	MIM:609049	Pierson syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060853	Potocki-Lupski syndrome	skos:exactMatch	MIM:610883	Potocki-Lupski syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060855	autosomal dominant pseudohypoaldosteronism type 1	skos:exactMatch	MIM:177735	Pseudohypoaldosteronism type I, autosomal dominant	semapv:ManualMappingCuration	2018-03-06
DOID:0060857	septooptic dysplasia	skos:exactMatch	MIM:182230	Growth hormone deficiency with pituitary anomalies	semapv:ManualMappingCuration	2017-10-03
DOID:0060858	hypotonia-cystinuria syndrome	skos:exactMatch	MIM:606407	Hypotonia-cystinuria syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060861	microphthalmia with limb anomalies	skos:exactMatch	MIM:206920	Microphthalmia with limb anomalies	semapv:ManualMappingCuration	2014-10-20
DOID:0060862	mal de Meleda	skos:exactMatch	MIM:248300	Meleda disease	semapv:ManualMappingCuration	2017-10-03
DOID:0060863	patterned macular dystrophy	skos:exactMatch	MIM:PS169150	Macular dystrophy, patterned, 1	semapv:ManualMappingCuration	2018-06-29
DOID:0060864	patterned macular dystrophy 2	skos:exactMatch	MIM:608970	Macular dystrophy, patterned, 2	semapv:ManualMappingCuration	2018-05-18
DOID:0060865	patterned macular dystrophy 3	skos:exactMatch	MIM:617111	?Macular dystrophy, patterned, 3	semapv:ManualMappingCuration	2017-05-04
DOID:0060866	patterned macular dystrophy 1	skos:exactMatch	MIM:169150	Macular dystrophy, patterned, 1	semapv:ManualMappingCuration	2018-12-13
DOID:0060867	macrocephaly-autism syndrome	skos:exactMatch	MIM:605309	Macrocephaly/autism syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060868	leukoencephalopathy with vanishing white matter	skos:exactMatch	MIM:PS603896	Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure	semapv:ManualMappingCuration	2023-05-31
DOID:0060869	late-onset retinal degeneration	skos:exactMatch	MIM:605670	Retinal degeneration, late-onset, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0060870	isolated growth hormone deficiency	skos:exactMatch	MIM:PS262400	Growth hormone deficiency, isolated, type IA	semapv:ManualMappingCuration	2019-03-28
DOID:0060871	autosomal dominant keratitis-ichthyosis-deafness syndrome	skos:exactMatch	MIM:148210	Keratitis-ichthyosis-deafness syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060872	isolated growth hormone deficiency type II	skos:exactMatch	MIM:173100	Growth hormone deficiency, isolated, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0060873	isolated growth hormone deficiency type IA	skos:exactMatch	MIM:262400	Growth hormone deficiency, isolated, type IA	semapv:ManualMappingCuration	2017-10-03
DOID:0060874	isolated growth hormone deficiency type IB	skos:exactMatch	MIM:612781	Growth hormone deficiency, isolated, type IB	semapv:ManualMappingCuration	2017-10-03
DOID:0060874	isolated growth hormone deficiency type IB	skos:exactMatch	MIM:618157	Growth hormone deficiency, isolated, type IV	semapv:ManualMappingCuration	2024-02-28
DOID:0060875	isolated growth hormone deficiency type III	skos:exactMatch	MIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	semapv:ManualMappingCuration	2017-10-03
DOID:0060877	bullous congenital ichthyosiform erythroderma	skos:exactMatch	MIM:146800	Ichthyosis bullosa of Siemens	semapv:ManualMappingCuration	2017-10-03
DOID:0060878	hypoparathyroidism-deafness-renal disease syndrome	skos:exactMatch	MIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0060879	primary hypomagnesemia	skos:exactMatch	MIM:PS602014	Hypomagnesemia 1, intestinal	semapv:ManualMappingCuration	2018-06-29
DOID:0060880	renal hypomagnesemia 3	skos:exactMatch	MIM:248250	Hypomagnesemia 3, renal	semapv:ManualMappingCuration	2018-02-28
DOID:0060881	renal hypomagnesemia 5 with ocular involvement	skos:exactMatch	MIM:248190	Hypomagnesemia 5, renal, with ocular involvement	semapv:ManualMappingCuration	2017-10-03
DOID:0060882	renal hypomagnesemia 4	skos:exactMatch	MIM:611718	?Hypomagnesemia 4, renal	semapv:ManualMappingCuration	2017-10-03
DOID:0060883	intestinal hypomagnesemia 1	skos:exactMatch	MIM:602014	Hypomagnesemia 1, intestinal	semapv:ManualMappingCuration	2017-10-03
DOID:0060884	renal hypomagnesemia 6	skos:exactMatch	MIM:613882	Hypomagnesemia 6, renal	semapv:ManualMappingCuration	2014-09-09
DOID:0060885	renal hypomagnesemia 2	skos:exactMatch	MIM:154020	Hypomagnesemia 2, renal	semapv:ManualMappingCuration	2017-10-03
DOID:0060886	osteopathia striata with cranial sclerosis	skos:exactMatch	MIM:300373	Osteopathia striata with cranial sclerosis	semapv:ManualMappingCuration	2017-10-03
DOID:0060887	ossification of the posterior longitudinal ligament of spine	skos:exactMatch	MIM:602475	OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	semapv:ManualMappingCuration	2017-10-03
DOID:0060888	transient myeloproliferative syndrome	skos:exactMatch	MIM:159595	Leukemia, transient, of Down syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060889	prune belly syndrome	skos:exactMatch	MIM:100100	Prune belly syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0060891	Parkinson's disease 19A	skos:exactMatch	MIM:615528	Parkinson disease 19b, early-onset	semapv:ManualMappingCuration	2016-09-26
DOID:0060892	late onset Parkinson's disease	skos:exactMatch	MIM:168600	{Parkinson disease, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:0060892	late onset Parkinson's disease	skos:exactMatch	MIM:614251	{Parkinson disease 18}	semapv:ManualMappingCuration	2014-09-09
DOID:0060892	late onset Parkinson's disease	skos:exactMatch	MIM:619491	{Parkinson disease 24, autosomal dominant, susceptibility to}	semapv:ManualMappingCuration	2021-09-01
DOID:0060895	Parkinson's disease 4	skos:exactMatch	MIM:605543	Parkinson disease 4	semapv:ManualMappingCuration	2017-10-03
DOID:0060896	Parkinson's disease 23	skos:exactMatch	MIM:616840	Parkinson disease 23, autosomal recessive, early onset	semapv:ManualMappingCuration	2016-04-14
DOID:0060897	Parkinson's disease 17	skos:exactMatch	MIM:614203	{Parkinson disease 17}	semapv:ManualMappingCuration	2014-09-09
DOID:0060898	Parkinson's disease 20	skos:exactMatch	MIM:615530	Parkinson disease 20, early-onset	semapv:ManualMappingCuration	2014-09-09
DOID:0060900	Parkinson's disease 14	skos:exactMatch	MIM:612953	Parkinson disease 14, autosomal recessive	semapv:ManualMappingCuration	2014-06-23
DOID:0060901	lymphoplasmacytic lymphoma	skos:exactMatch	MIM:153600	Macroglobulinemia, Waldenstrom, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:0060901	lymphoplasmacytic lymphoma	skos:exactMatch	MIM:610430	{Macroglobulinemia, Waldenstrom, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:0060901	lymphoplasmacytic lymphoma	skos:exactMatch	MIM:PS153600	Macroglobulinemia, Waldenstrom, somatic	semapv:ManualMappingCuration	2021-11-09
DOID:0060902	Norman-Roberts syndrome	skos:exactMatch	MIM:257320	Lissencephaly 2 (Norman-Roberts type)	semapv:ManualMappingCuration	2017-10-03
DOID:0060911	karyomegalic interstitial nephritis	skos:exactMatch	MIM:614817	Interstitial nephritis, karyomegalic	semapv:ManualMappingCuration	2014-09-09
DOID:0060912	craniosynostosis 7	skos:exactMatch	MIM:617439	{Craniosynostosis 7, susceptibility to}	semapv:ManualMappingCuration	2017-07-11
DOID:0060913	proteosome-associated autoinflammatory syndrome	skos:exactMatch	MIM:PS256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	semapv:ManualMappingCuration	2020-03-02
DOID:0060914	proteosome-associated autoinflammatory syndrome 2	skos:exactMatch	MIM:618048	Proteasome-associated autoinflammatory syndrome 2	semapv:ManualMappingCuration	2018-08-16
DOID:0060915	proteosome-associated autoinflammatory syndrome 4	skos:exactMatch	MIM:619183	?Proteasome-associated autoinflammatory syndrome 4	semapv:ManualMappingCuration	2021-02-18
DOID:0060916	proteosome-associated autoinflammatory syndrome 3	skos:exactMatch	MIM:617591	?Proteasome-associated autoinflammatory syndrome 3 and digenic forms	semapv:ManualMappingCuration	2018-08-16
DOID:0060917	facioscapulohumeral muscular dystrophy 3	skos:exactMatch	MIM:619477	?Facioscapulohumeral muscular dystrophy 3, digenic	semapv:ManualMappingCuration	2021-08-25
DOID:0060918	facioscapulohumeral muscular dystrophy 4	skos:exactMatch	MIM:619478	Facioscapulohumeral muscular dystrophy 4, digenic	semapv:ManualMappingCuration	2021-08-25
DOID:0060919	proteosome-associated autoinflammatory syndrome 5	skos:exactMatch	MIM:619175	Proteasome-associated autoinflammatory syndrome 5	semapv:ManualMappingCuration	2021-02-18
DOID:0060920	otosclerosis 1	skos:exactMatch	MIM:166800	Otosclerosis 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060921	otosclerosis 2	skos:exactMatch	MIM:605727	Otosclerosis 2	semapv:ManualMappingCuration	2017-10-03
DOID:0060922	otosclerosis 3	skos:exactMatch	MIM:608244	Otosclerosis 3	semapv:ManualMappingCuration	2017-10-03
DOID:0060923	otosclerosis 4	skos:exactMatch	MIM:611571	{Otosclerosis 4}	semapv:ManualMappingCuration	2017-10-03
DOID:0060924	otosclerosis 5	skos:exactMatch	MIM:608787	Otosclerosis 5	semapv:ManualMappingCuration	2017-10-03
DOID:0060925	otosclerosis 7	skos:exactMatch	MIM:611572	Otosclerosis 7	semapv:ManualMappingCuration	2017-10-03
DOID:0060926	otosclerosis 8	skos:exactMatch	MIM:612096	Otosclerosis 8	semapv:ManualMappingCuration	2017-10-03
DOID:0060927	otosclerosis 10	skos:exactMatch	MIM:615589	Otosclerosis 10	semapv:ManualMappingCuration	2018-02-07
DOID:0060928	otosclerosis 11	skos:exactMatch	MIM:620576	Otosclerosis 11	semapv:ManualMappingCuration	2023-11-10
DOID:0060929	non-syndromic X-linked intellectual developmental disorder 111	skos:exactMatch	MIM:301107	Intellectual developmental disorder, X-linked 111	semapv:ManualMappingCuration	2023-05-05
DOID:0060930	developmental dysplasia of the hip	skos:exactMatch	MIM:PS142700	Developmental dysplasia of the hip 1	semapv:ManualMappingCuration	2024-01-31
DOID:0060931	developmental dysplasia of the hip 1	skos:exactMatch	MIM:142700	Developmental dysplasia of the hip 1	semapv:ManualMappingCuration	2014-06-23
DOID:0060932	developmental dysplasia of the hip 2	skos:exactMatch	MIM:615612	Developmental dysplasia of the hip 2	semapv:ManualMappingCuration	2019-02-13
DOID:0060933	developmental delay, dysmorphic facies, and brain anomalies	skos:exactMatch	MIM:620535	Developmental delay, dysmorphic facies, and brain anomalies	semapv:ManualMappingCuration	2024-01-18
DOID:0060934	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	skos:exactMatch	MIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	semapv:ManualMappingCuration	2018-03-14
DOID:0060935	infantile hypotonia with psychomotor retardation and characteristic facies-3	skos:exactMatch	MIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	semapv:ManualMappingCuration	2016-05-19
DOID:0060936	dystonia 28, childhood-onset	skos:exactMatch	MIM:617284	Dystonia 28, childhood-onset	semapv:ManualMappingCuration	2017-03-03
DOID:0060937	dystonia 30	skos:exactMatch	MIM:619291	Dystonia 30	semapv:ManualMappingCuration	2021-05-03
DOID:0060938	dystonia 31	skos:exactMatch	MIM:619565	Dystonia 31	semapv:ManualMappingCuration	2021-11-09
DOID:0060939	dystonia 32	skos:exactMatch	MIM:619637	?Dystonia 32	semapv:ManualMappingCuration	2021-12-01
DOID:0060940	dystonia 33	skos:exactMatch	MIM:619687	Dystonia 33	semapv:ManualMappingCuration	2022-01-10
DOID:0060941	interstitial lung disease 1	skos:exactMatch	MIM:619611	Interstitial lung disease 1	semapv:ManualMappingCuration	2021-11-19
DOID:0060942	Ullrich congenital muscular dystrophy 1B	skos:exactMatch	MIM:620727	Ullrich congenital muscular dystrophy 1B	semapv:ManualMappingCuration	2024-03-18
DOID:0060943	Ullrich congenital muscular dystrophy 1C	skos:exactMatch	MIM:620728	Ullrich congenital muscular dystrophy 1C	semapv:ManualMappingCuration	2024-03-18
DOID:0060944	episodic kinesigenic dyskinesia 3	skos:exactMatch	MIM:620245	Episodic kinesigenic dyskinesia 3	semapv:ManualMappingCuration	2024-06-18
DOID:0060945	amelogenesis imperfecta type 1K	skos:exactMatch	MIM:620104	Amelogenesis imperfecta, type IK	semapv:ManualMappingCuration	2022-10-27
DOID:0060946	Ullrich congenital muscular dystrophy 1A	skos:exactMatch	MIM:254090	Ullrich congenital muscular dystrophy 1A	semapv:ManualMappingCuration	2017-10-03
DOID:0060947	autosomal recessive intellectual developmental disorder 82	skos:exactMatch	MIM:620779	Intellectual developmental disorder, autosomal recessive 82	semapv:ManualMappingCuration	2024-05-01
DOID:0060948	Ullrich congenital muscular dystrophy 2	skos:exactMatch	MIM:616470	?Ullrich congenital muscular dystrophy 2	semapv:ManualMappingCuration	2017-04-19
DOID:0060949	3-hydroxyisobutryl-CoA hydrolase deficiency	skos:exactMatch	MIM:250620	3-hydroxyisobutryl-CoA hydrolase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0060950	hypervalinemia and hyperleucine-isoleucinemia	skos:exactMatch	MIM:618850	Hypervalinemia and hyperleucine-isoleucinemia	semapv:ManualMappingCuration	2020-07-13
DOID:0060951	polycystic kidney disease 6	skos:exactMatch	MIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	semapv:ManualMappingCuration	2018-08-15
DOID:0060952	polycystic kidney disease 7	skos:exactMatch	MIM:620056	Polycystic kidney disease 7	semapv:ManualMappingCuration	2022-10-05
DOID:0060953	ZTTK syndrome	skos:exactMatch	MIM:617140	ZTTK syndrome	semapv:ManualMappingCuration	2017-02-08
DOID:0060954	Holoprosencephaly 13, X-linked	skos:exactMatch	MIM:301043	Holoprosencephaly 13, X-linked	semapv:ManualMappingCuration	2020-04-15
DOID:0060955	dystonia 35, childhood-onset	skos:exactMatch	MIM:619921	?Dystonia 35, childhood-onset	semapv:ManualMappingCuration	2022-06-27
DOID:0060956	dystonia 37, early-onset with striatal lesions	skos:exactMatch	MIM:620427	Dystonia 37, early-onset, with striatal lesions	semapv:ManualMappingCuration	2023-07-07
DOID:0060957	myoclonic dystonia 34	skos:exactMatch	MIM:619724	?Dystonia 34, myoclonic	semapv:ManualMappingCuration	2022-01-31
DOID:0060958	orofaciodigital syndrome XIV	skos:exactMatch	MIM:615948	Orofaciodigital syndrome XIV	semapv:ManualMappingCuration	2015-12-08
DOID:0060959	orofaciodigital syndrome II	skos:exactMatch	MIM:252100	?Orofaciodigital syndrome II	semapv:ManualMappingCuration	2019-04-22
DOID:0060960	orofaciodigital syndrome XIX	skos:exactMatch	MIM:620107	Orofaciodigital syndrome XIX	semapv:ManualMappingCuration	2022-10-28
DOID:0060961	orofaciodigital syndrome XVIII	skos:exactMatch	MIM:617927	?Orofaciodigital syndrome XVIII	semapv:ManualMappingCuration	2018-05-23
DOID:0060962	orofaciodigital syndrome XX	skos:exactMatch	MIM:620718	Orofaciodigital syndrome XX	semapv:ManualMappingCuration	2024-02-19
DOID:0060964	Loeys-Dietz syndrome 6	skos:exactMatch	MIM:619656	Loeys-Dietz syndrome 6	semapv:ManualMappingCuration	2022-02-08
DOID:0060965	episodic ataxia type 9	skos:exactMatch	MIM:618924	Episodic ataxia, type 9	semapv:ManualMappingCuration	2020-07-09
DOID:0060966	dystonia 22, juvenile-onset	skos:exactMatch	MIM:620453	Dystonia 22, juvenile-onset	semapv:ManualMappingCuration	2023-07-25
DOID:0060967	dystonia 22, adult-onset	skos:exactMatch	MIM:620456	?Dystonia 22, adult-onset	semapv:ManualMappingCuration	2023-08-04
DOID:0060968	hypotrichosis 15	skos:exactMatch	MIM:620177	Hypotrichosis 15	semapv:ManualMappingCuration	2023-01-04
DOID:0060969	galactosemia 4	skos:exactMatch	MIM:618881	Galactosemia IV	semapv:ManualMappingCuration	2020-05-15
DOID:0060970	Cornelia de Lange syndrome 6	skos:exactMatch	MIM:620568	Cornelia de Lange syndrome 6	semapv:ManualMappingCuration	2023-12-19
DOID:0060971	interstitial lung disease 2	skos:exactMatch	MIM:178500	Interstitial lung disease 2	semapv:ManualMappingCuration	2024-06-28
DOID:0060972	renal hypomagnesemia 7, with or without dilated cardiomyopathy	skos:exactMatch	MIM:620152	Hypomagnesemia 7, renal, with or without dilated cardiomyopathy	semapv:ManualMappingCuration	2022-12-12
DOID:0060973	WHIM syndrome 2	skos:exactMatch	MIM:619407	?WHIM syndrome 2	semapv:ManualMappingCuration	2021-07-08
DOID:0060974	autosomal recessive Robinow syndrome 2	skos:exactMatch	MIM:618529	Robinow syndrome, autosomal recessive 2	semapv:ManualMappingCuration	2019-09-03
DOID:0060975	polycystic liver disease 2	skos:exactMatch	MIM:617004	Polycystic liver disease 2	semapv:ManualMappingCuration	2017-02-06
DOID:0060976	polycystic liver disease 3	skos:exactMatch	MIM:617874	Polycystic liver disease 3 with or without kidney cysts	semapv:ManualMappingCuration	2018-03-14
DOID:0060977	polycystic liver disease 4	skos:exactMatch	MIM:617875	Polycystic liver disease 4 with or without kidney cysts	semapv:ManualMappingCuration	2018-03-14
DOID:0060978	Fanconi anemia complementation group W	skos:exactMatch	MIM:617784	?Fanconi anemia, complementation group W	semapv:ManualMappingCuration	2018-01-15
DOID:0060979	Fanconi anemia complementation group S	skos:exactMatch	MIM:617883	Fanconi anemia, complementation group S	semapv:ManualMappingCuration	2019-10-18
DOID:0060980	polycystic liver disease 1	skos:exactMatch	MIM:174050	Polycystic liver disease 1	semapv:ManualMappingCuration	2017-10-03
DOID:0060981	mosaic variegated aneuploidy syndrome 4	skos:exactMatch	MIM:620153	?Mosaic variegated aneuploidy syndrome 4	semapv:ManualMappingCuration	2022-12-12
DOID:0060982	mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	skos:exactMatch	MIM:620189	Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	semapv:ManualMappingCuration	2023-01-16
DOID:0060983	sitosterolemia 2	skos:exactMatch	MIM:618666	Sitosterolemia 2	semapv:ManualMappingCuration	2019-11-20
DOID:0060984	digenic dyskeratosis congenita	skos:exactMatch	MIM:620040	Dyskeratosis congenita, digenic	semapv:ManualMappingCuration	2022-12-06
DOID:0060985	preaxial polydactyly type IV	skos:exactMatch	MIM:174700	Polydactyly, preaxial, type IV	semapv:ManualMappingCuration	2017-10-03
DOID:0060986	preaxial polydactyly II	skos:exactMatch	MIM:174500	Triphalangeal thumb	semapv:ManualMappingCuration	2014-06-23
DOID:0060987	preaxial polydactyly I	skos:exactMatch	MIM:174400	Polydactyly, preaxial I	semapv:ManualMappingCuration	2019-05-24
DOID:0060988	pancreatic agenesis 2	skos:exactMatch	MIM:615935	Pancreatic agenesis 2	semapv:ManualMappingCuration	2020-02-14
DOID:0060989	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	skos:exactMatch	MIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	semapv:ManualMappingCuration	2018-03-15
DOID:0060990	congenital disorder of deglycosylation 2	skos:exactMatch	MIM:619775	Congenital disorder of deglycosylation 2	semapv:ManualMappingCuration	2022-04-22
DOID:0060991	congenital disorder of deglycosylation	skos:exactMatch	MIM:PS615273	Congenital disorder of deglycosylation 1	semapv:ManualMappingCuration	2024-08-13
DOID:0060992	bent bone dysplasia syndrome 1	skos:exactMatch	MIM:614592	Bent bone dysplasia syndrome	semapv:ManualMappingCuration	2014-09-02
DOID:0060993	bent bone dysplasia syndrome 2	skos:exactMatch	MIM:620076	?Bent bone dysplasia syndrome 2	semapv:ManualMappingCuration	2022-10-17
DOID:0060994	encephalopathy due to defective mitochondrial and peroxisomal fission 2	skos:exactMatch	MIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	semapv:ManualMappingCuration	2017-03-06
DOID:0060995	autosomal dominant isolated macrothrombocytopenia 2	skos:exactMatch	MIM:619840	Macrothrombocytopenia, isolated, 2, autosomal dominant	semapv:ManualMappingCuration	2022-04-28
DOID:0060996	poor metabolism of thiopurines 2	skos:exactMatch	MIM:616903	{Thiopurines, poor metabolism of, 2}	semapv:ManualMappingCuration	2016-05-20
DOID:0060997	rhabdoid tumor predisposition syndrome 2	skos:exactMatch	MIM:613325	{Rhabdoid tumor predisposition syndrome 2}	semapv:ManualMappingCuration	2017-10-03
DOID:0060998	striatal degeneration 2	skos:exactMatch	MIM:616922	Striatal degeneration, autosomal dominant	semapv:ManualMappingCuration	2016-06-14
DOID:0060999	mitochondrial trifunctional protein deficiency 2	skos:exactMatch	MIM:620300	Mitochondrial trifunctional protein deficiency 2	semapv:ManualMappingCuration	2023-03-31
DOID:0061001	glycine encephalopathy 2	skos:exactMatch	MIM:620398	Glycine encephalopathy 2	semapv:ManualMappingCuration	2023-06-14
DOID:0061002	congenital amegakaryocytic thrombocytopenia 2	skos:exactMatch	MIM:620481	Amegakaryocytic thrombocytopenia, congenital, 2	semapv:ManualMappingCuration	2023-09-01
DOID:0061003	pancreatic agenesis 1	skos:exactMatch	MIM:260370	Pancreatic agenesis 1	semapv:ManualMappingCuration	2024-11-01
DOID:0061004	poor metabolism of thiopurines 1	skos:exactMatch	MIM:610460	{Thiopurines, poor metabolism of, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:0070000	3-methylglutaconic aciduria type 8	skos:exactMatch	MIM:617248	3-methylglutaconic aciduria, type VIII	semapv:ManualMappingCuration	2017-02-14
DOID:0070002	3-methylglutaconic aciduria type 9	skos:exactMatch	MIM:617698	3-methylglutaconic aciduria, type IX	semapv:ManualMappingCuration	2017-12-11
DOID:0070005	Seckel syndrome 9	skos:exactMatch	MIM:616777	Seckel syndrome 9	semapv:ManualMappingCuration	2016-02-11
DOID:0070006	Seckel syndrome 6	skos:exactMatch	MIM:614728	?Seckel syndrome 6	semapv:ManualMappingCuration	2014-09-09
DOID:0070007	Seckel syndrome 1	skos:exactMatch	MIM:210600	Seckel syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070008	Seckel syndrome 10	skos:exactMatch	MIM:617253	Seckel syndrome 10	semapv:ManualMappingCuration	2017-04-04
DOID:0070009	Seckel syndrome 8	skos:exactMatch	MIM:615807	Seckel syndrome 8	semapv:ManualMappingCuration	2014-09-09
DOID:0070010	Seckel syndrome 4	skos:exactMatch	MIM:613676	?Seckel syndrome 4	semapv:ManualMappingCuration	2014-06-23
DOID:0070011	Seckel syndrome 7	skos:exactMatch	MIM:614851	?Seckel syndrome 7	semapv:ManualMappingCuration	2014-09-09
DOID:0070012	Seckel syndrome 5	skos:exactMatch	MIM:613823	Seckel syndrome 5	semapv:ManualMappingCuration	2014-09-09
DOID:0070013	Seckel syndrome 2	skos:exactMatch	MIM:606744	Seckel syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0070014	autosomal dominant dyskeratosis congenita 1	skos:exactMatch	MIM:127550	Dyskeratosis congenita, autosomal dominant 1	semapv:ManualMappingCuration	2018-04-16
DOID:0070015	autosomal recessive dyskeratosis congenita 1	skos:exactMatch	MIM:224230	?Dyskeratosis congenita, autosomal recessive 1	semapv:ManualMappingCuration	2018-04-16
DOID:0070016	autosomal dominant dyskeratosis congenita 2	skos:exactMatch	MIM:613989	Dyskeratosis congenita, autosomal recessive 4	semapv:ManualMappingCuration	2018-09-13
DOID:0070017	autosomal recessive dyskeratosis congenita 2	skos:exactMatch	MIM:613987	Dyskeratosis congenita, autosomal recessive 2	semapv:ManualMappingCuration	2014-09-09
DOID:0070018	autosomal dominant dyskeratosis congenita 3	skos:exactMatch	MIM:613990	Dyskeratosis congenita, autosomal dominant 3	semapv:ManualMappingCuration	2014-09-09
DOID:0070019	autosomal recessive dyskeratosis congenita 3	skos:exactMatch	MIM:613988	Dyskeratosis congenita, autosomal recessive 3	semapv:ManualMappingCuration	2014-09-09
DOID:0070022	autosomal recessive dyskeratosis congenita 5	skos:exactMatch	MIM:615190	Dyskeratosis congenita, autosomal recessive 5	semapv:ManualMappingCuration	2014-09-09
DOID:0070023	autosomal dominant dyskeratosis congenita 6	skos:exactMatch	MIM:616553	?Dyskeratosis congenita, autosomal recessive 7	semapv:ManualMappingCuration	2015-11-10
DOID:0070024	autosomal recessive dyskeratosis congenita 6	skos:exactMatch	MIM:616353	Dyskeratosis congenita, autosomal recessive 6	semapv:ManualMappingCuration	2015-06-17
DOID:0070025	X-linked dyskeratosis congenita	skos:exactMatch	MIM:305000	Dyskeratosis congenita, X-linked	semapv:ManualMappingCuration	2018-05-02
DOID:0070026	Revesz syndrome	skos:exactMatch	MIM:268130	Revesz syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0070027	CST3-related cerebral amyloid angiopathy	skos:exactMatch	MIM:105150	Cerebral amyloid angiopathy	semapv:ManualMappingCuration	2017-10-03
DOID:0070028	APP-related cerebral amyloid angiopathy	skos:exactMatch	MIM:605714	Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants	semapv:ManualMappingCuration	2017-10-10
DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	skos:exactMatch	MIM:176500	Dementia, familial British	semapv:ManualMappingCuration	2017-10-03
DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	skos:exactMatch	MIM:117300	Dementia, familial Danish	semapv:ManualMappingCuration	2017-10-03
DOID:0070031	autosomal dominant intellectual developmental disorder 1	skos:exactMatch	MIM:156200	Intellectual developmental disorder, autosomal dominant 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070032	autosomal dominant intellectual developmental disorder 2	skos:exactMatch	MIM:614113	Intellectual developmental disorder, autosomal dominant 2	semapv:ManualMappingCuration	2014-09-09
DOID:0070033	autosomal dominant intellectual developmental disorder 3	skos:exactMatch	MIM:612580	Intellectual developmental disorder, autosomal dominant 3	semapv:ManualMappingCuration	2017-10-03
DOID:0070034	autosomal dominant intellectual developmental disorder 4	skos:exactMatch	MIM:612581	Intellectual developmental disorder, autosomal dominant 4	semapv:ManualMappingCuration	2017-10-03
DOID:0070035	autosomal dominant intellectual developmental disorder 5	skos:exactMatch	MIM:612621	Intellectual developmental disorder, autosomal dominant 5	semapv:ManualMappingCuration	2017-10-03
DOID:0070036	autosomal dominant intellectual developmental disorder 6	skos:exactMatch	MIM:613970	Intellectual developmental disorder, autosomal dominant 6, with or without seizures	semapv:ManualMappingCuration	2014-09-09
DOID:0070037	autosomal dominant intellectual developmental disorder 7	skos:exactMatch	MIM:614104	Intellectual developmental disorder, autosomal dominant 7	semapv:ManualMappingCuration	2014-09-09
DOID:0070038	autosomal dominant intellectual developmental disorder 8	skos:exactMatch	MIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	semapv:ManualMappingCuration	2014-09-09
DOID:0070039	NESCAV syndrome	skos:exactMatch	MIM:614255	NESCAV syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:0070040	autosomal dominant intellectual developmental disorder 10	skos:exactMatch	MIM:614256	?Intellectual developmental disorder, autosomal dominant 10	semapv:ManualMappingCuration	2014-09-09
DOID:0070041	autosomal dominant intellectual developmental disorder 11	skos:exactMatch	MIM:614257	?Intellectual developmental disorder, autosomal dominant 11	semapv:ManualMappingCuration	2014-09-09
DOID:0070042	Coffin-Siris syndrome 1	skos:exactMatch	MIM:135900	Coffin-Siris syndrome 1	semapv:ManualMappingCuration	2018-04-16
DOID:0070043	autosomal dominant intellectual developmental disorder 13	skos:exactMatch	MIM:614563	Cortical dysplasia, complex, with other brain malformations 13	semapv:ManualMappingCuration	2014-09-09
DOID:0070044	Coffin-Siris syndrome 2	skos:exactMatch	MIM:614607	Coffin-Siris syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:0070045	Coffin-Siris syndrome 3	skos:exactMatch	MIM:614608	Coffin-Siris syndrome 3	semapv:ManualMappingCuration	2014-09-09
DOID:0070046	Coffin-Siris syndrome 4	skos:exactMatch	MIM:614609	Coffin-Siris syndrome 4	semapv:ManualMappingCuration	2014-09-09
DOID:0070047	Schuurs-Hoeijmakers syndrome	skos:exactMatch	MIM:615009	Schuurs-Hoeijmakers syndrome	semapv:ManualMappingCuration	2015-06-10
DOID:0070048	GAND syndrome	skos:exactMatch	MIM:615074	GAND syndrome	semapv:ManualMappingCuration	2015-06-10
DOID:0070049	autosomal dominant intellectual developmental disorder 19	skos:exactMatch	MIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	semapv:ManualMappingCuration	2014-09-09
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	skos:exactMatch	MIM:613443	Chromosome 5q14.3 deletion syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0070051	autosomal dominant intellectual developmental disorder 21	skos:exactMatch	MIM:615502	Intellectual developmental disorder, autosomal dominant 21	semapv:ManualMappingCuration	2014-09-09
DOID:0070052	autosomal dominant intellectual developmental disorder 22	skos:exactMatch	MIM:612337	Intellectual developmental disorder, autosomal dominant 22	semapv:ManualMappingCuration	2014-10-20
DOID:0070053	autosomal dominant intellectual developmental disorder 23	skos:exactMatch	MIM:615761	Intellectual developmental disorder, autosomal dominant 23	semapv:ManualMappingCuration	2015-07-06
DOID:0070054	Vulto-van Silfout-de Vries syndrome	skos:exactMatch	MIM:615828	Vulto-van Silfout-de Vries syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:0070055	Xia-Gibbs syndrome	skos:exactMatch	MIM:615829	Xia-Gibbs syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:0070056	autosomal dominant intellectual developmental disorder 26	skos:exactMatch	MIM:615834	Intellectual developmental disorder, autosomal dominant 26	semapv:ManualMappingCuration	2017-05-08
DOID:0070057	Coffin-Siris syndrome 9	skos:exactMatch	MIM:615866	Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	semapv:ManualMappingCuration	2017-05-08
DOID:0070058	Helsmoortel-Van Der Aa syndrome	skos:exactMatch	MIM:615873	Helsmoortel-van der Aa syndrome	semapv:ManualMappingCuration	2016-11-09
DOID:0070059	autosomal dominant intellectual developmental disorder 29	skos:exactMatch	MIM:616078	Intellectual developmental disorder, autosomal dominant 29	semapv:ManualMappingCuration	2016-11-10
DOID:0070060	autosomal dominant intellectual developmental disorder 30	skos:exactMatch	MIM:616083	Intellectual developmental disorder, autosomal dominant 30	semapv:ManualMappingCuration	2017-05-08
DOID:0070061	autosomal dominant intellectual developmental disorder 31	skos:exactMatch	MIM:616158	Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties	semapv:ManualMappingCuration	2015-07-16
DOID:0070062	Arboleda-Tham syndrome	skos:exactMatch	MIM:616268	Arboleda-Tham syndrome	semapv:ManualMappingCuration	2015-05-12
DOID:0070063	autosomal dominant intellectual developmental disorder 33	skos:exactMatch	MIM:616311	Intellectual developmental disorder, autosomal dominant 33	semapv:ManualMappingCuration	2017-05-08
DOID:0070064	autosomal dominant intellectual developmental disorder 34	skos:exactMatch	MIM:616351	Intellectual developmental disorder, autosomal dominant 34	semapv:ManualMappingCuration	2017-05-08
DOID:0070065	autosomal dominant intellectual developmental disorder 35	skos:exactMatch	MIM:616355	Houge-Janssens syndrome 1	semapv:ManualMappingCuration	2016-04-14
DOID:0070066	autosomal dominant intellectual developmental disorder 36	skos:exactMatch	MIM:616362	Houge-Janssens syndrome 2	semapv:ManualMappingCuration	2017-01-31
DOID:0070067	White-Sutton syndrome	skos:exactMatch	MIM:616364	White-Sutton syndrome	semapv:ManualMappingCuration	2017-04-19
DOID:0070068	autosomal dominant intellectual developmental disorder 38	skos:exactMatch	MIM:616393	Intellectual developmental disorder, autosomal dominant 38	semapv:ManualMappingCuration	2017-05-08
DOID:0070069	autosomal dominant intellectual developmental disorder 39	skos:exactMatch	MIM:616521	Intellectual developmental disorder, autosomal dominant 39	semapv:ManualMappingCuration	2017-01-31
DOID:0070070	autosomal dominant intellectual developmental disorder 40	skos:exactMatch	MIM:616579	Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features	semapv:ManualMappingCuration	2015-11-11
DOID:0070071	autosomal dominant intellectual developmental disorder 41	skos:exactMatch	MIM:616944	Intellectual developmental disorder, autosomal dominant 41	semapv:ManualMappingCuration	2017-10-10
DOID:0070072	autosomal dominant intellectual developmental disorder 42	skos:exactMatch	MIM:616973	Intellectual developmental disorder, autosomal dominant 42	semapv:ManualMappingCuration	2017-10-10
DOID:0070073	autosomal dominant intellectual developmental disorder 43	skos:exactMatch	MIM:616977	Intellectual developmental disorder, autosomal dominant 43	semapv:ManualMappingCuration	2016-07-12
DOID:0070074	autosomal dominant intellectual developmental disorder 44	skos:exactMatch	MIM:617061	Intellectual developmental disorder, autosomal dominant 44, with microcephaly	semapv:ManualMappingCuration	2017-05-04
DOID:0070077	schizophrenia 1	skos:exactMatch	MIM:181510	{Schizophrenia}	semapv:ManualMappingCuration	2018-04-13
DOID:0070078	schizophrenia 2	skos:exactMatch	MIM:603342	{?Schizophrenia}	semapv:ManualMappingCuration	2018-04-13
DOID:0070079	schizophrenia 3	skos:exactMatch	MIM:600511	{Schizophrenia}	semapv:ManualMappingCuration	2018-04-13
DOID:0070080	schizophrenia 4	skos:exactMatch	MIM:600850	{Schizophrenia, susceptibility to, 4}	semapv:ManualMappingCuration	2018-04-13
DOID:0070081	schizophrenia 5	skos:exactMatch	MIM:603175	{Schizophrenia}	semapv:ManualMappingCuration	2018-04-13
DOID:0070082	schizophrenia 6	skos:exactMatch	MIM:603013	{Schizophrenia}	semapv:ManualMappingCuration	2018-04-13
DOID:0070083	schizophrenia 7	skos:exactMatch	MIM:603176	{Schizophrenia}	semapv:ManualMappingCuration	2018-04-13
DOID:0070084	schizophrenia 8	skos:exactMatch	MIM:603206	{Schizophrenia}	semapv:ManualMappingCuration	2018-04-13
DOID:0070085	schizophrenia 9	skos:exactMatch	MIM:604906	{Schizophrenia 9, susceptibility to}	semapv:ManualMappingCuration	2018-04-13
DOID:0070086	schizophrenia 10	skos:exactMatch	MIM:605419	{Schizophrenia 10}	semapv:ManualMappingCuration	2018-04-13
DOID:0070087	schizophrenia 11	skos:exactMatch	MIM:608078	{Schizophrenia}	semapv:ManualMappingCuration	2018-04-13
DOID:0070088	schizophrenia 12	skos:exactMatch	MIM:608543	{Schizophrenia 12}	semapv:ManualMappingCuration	2018-04-13
DOID:0070089	schizophrenia 13	skos:exactMatch	MIM:613025	{Schizophrenia, susceptibility to, 13}	semapv:ManualMappingCuration	2018-04-13
DOID:0070090	schizophrenia 14	skos:exactMatch	MIM:612361	{Schizophrenia, susceptibility to, 14}	semapv:ManualMappingCuration	2018-04-13
DOID:0070091	schizophrenia 15	skos:exactMatch	MIM:613950	{Schizophrenia 15}	semapv:ManualMappingCuration	2014-09-09
DOID:0070092	schizophrenia 16	skos:exactMatch	MIM:613959	Schizophrenia 16	semapv:ManualMappingCuration	2018-04-13
DOID:0070093	schizophrenia 18	skos:exactMatch	MIM:615232	{?Schizophrenia susceptibility 18}	semapv:ManualMappingCuration	2018-04-13
DOID:0070094	oculocutaneous albinism type IA	skos:exactMatch	MIM:203100	Albinism, oculocutaneous, type IA	semapv:ManualMappingCuration	2017-10-03
DOID:0070095	oculocutaneous albinism type IB	skos:exactMatch	MIM:606952	Albinism, oculocutaneous, type IB	semapv:ManualMappingCuration	2017-10-03
DOID:0070096	oculocutaneous albinism type II	skos:exactMatch	MIM:203200	Albinism, oculocutaneous, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0070097	oculocutaneous albinism type III	skos:exactMatch	MIM:203290	Albinism, oculocutaneous, type III	semapv:ManualMappingCuration	2017-10-03
DOID:0070098	oculocutaneous albinism type IV	skos:exactMatch	MIM:606574	Albinism, oculocutaneous, type IV	semapv:ManualMappingCuration	2017-10-03
DOID:0070099	oculocutaneous albinism type V	skos:exactMatch	MIM:615312	Albinism, oculocutaneous, type V	semapv:ManualMappingCuration	2015-07-07
DOID:0070100	oculocutaneous albinism type VII	skos:exactMatch	MIM:615179	Albinism, oculocutaneous, type VII	semapv:ManualMappingCuration	2015-07-07
DOID:0070111	Niemann-Pick disease type A	skos:exactMatch	MIM:257200	Niemann-Pick disease, type A	semapv:ManualMappingCuration	2017-10-03
DOID:0070112	Niemann-Pick disease type B	skos:exactMatch	MIM:607616	Niemann-Pick disease, type B	semapv:ManualMappingCuration	2017-10-03
DOID:0070113	Niemann-Pick disease type C1	skos:exactMatch	MIM:257220	Niemann-Pick disease, type C1	semapv:ManualMappingCuration	2017-10-03
DOID:0070114	Niemann-Pick disease type C2	skos:exactMatch	MIM:607625	Niemann-pick disease, type C2	semapv:ManualMappingCuration	2017-10-03
DOID:0070115	Meckel syndrome 1	skos:exactMatch	MIM:249000	Meckel syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070116	Meckel syndrome 2	skos:exactMatch	MIM:603194	Meckel syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0070117	Meckel syndrome 3	skos:exactMatch	MIM:607361	Meckel syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:0070118	Meckel syndrome 4	skos:exactMatch	MIM:611134	Meckel syndrome 4	semapv:ManualMappingCuration	2017-10-03
DOID:0070119	Meckel syndrome 5	skos:exactMatch	MIM:611561	Meckel syndrome 5	semapv:ManualMappingCuration	2017-10-03
DOID:0070120	Meckel syndrome 6	skos:exactMatch	MIM:612284	Meckel syndrome 6	semapv:ManualMappingCuration	2017-10-03
DOID:0070121	Meckel syndrome 7	skos:exactMatch	MIM:267010	Meckel syndrome 7	semapv:ManualMappingCuration	2017-10-03
DOID:0070122	Meckel syndrome 8	skos:exactMatch	MIM:613885	?Meckel syndrome 8	semapv:ManualMappingCuration	2014-09-09
DOID:0070123	congenital nongoitrous hypothyroidism 4	skos:exactMatch	MIM:275100	Hypothyroidism, congenital, nongoitrous 4	semapv:ManualMappingCuration	2017-10-10
DOID:0070124	congenital nongoitrous hypothyroidism 2	skos:exactMatch	MIM:218700	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0070125	congenital nongoitrous hypothyroidism 5	skos:exactMatch	MIM:225250	Hypothyroidism, congenital nongoitrous, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0070126	congenital nongoitrous hypothyroidism 1	skos:exactMatch	MIM:275200	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	semapv:ManualMappingCuration	2014-10-20
DOID:0070127	congenital nongoitrous hypothyroidism 3	skos:exactMatch	MIM:609893	Hypothyroidism, congenital, nongoitrous, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0070128	congenital nongoitrous hypothyroidism 6	skos:exactMatch	MIM:614450	Hypothyroidism, congenital, nongoitrous, 6	semapv:ManualMappingCuration	2014-09-09
DOID:0070129	autosomal recessive cutis laxa type IID	skos:exactMatch	MIM:617403	Cutis laxa, autosomal recessive, type IID	semapv:ManualMappingCuration	2017-06-14
DOID:0070130	autosomal dominant cutis laxa 1	skos:exactMatch	MIM:123700	Cutis laxa, autosomal dominant	semapv:ManualMappingCuration	2018-04-13
DOID:0070131	autosomal dominant cutis laxa 3	skos:exactMatch	MIM:616603	Cutis laxa, autosomal dominant 3	semapv:ManualMappingCuration	2017-03-01
DOID:0070132	autosomal recessive cutis laxa type IIIA	skos:exactMatch	MIM:219150	Cutis laxa, autosomal recessive, type IIIA	semapv:ManualMappingCuration	2017-10-10
DOID:0070133	autosomal recessive cutis laxa type IB	skos:exactMatch	MIM:614437	Cutis laxa, autosomal recessive, type IB	semapv:ManualMappingCuration	2014-09-09
DOID:0070134	autosomal recessive cutis laxa type IIA	skos:exactMatch	MIM:219200	Cutis laxa, autosomal recessive, type IIA	semapv:ManualMappingCuration	2017-10-03
DOID:0070135	autosomal recessive cutis laxa type IA	skos:exactMatch	MIM:219100	Cutis laxa, autosomal recessive, type IA	semapv:ManualMappingCuration	2014-06-23
DOID:0070136	autosomal dominant cutis laxa 2	skos:exactMatch	MIM:614434	?Cutis laxa, autosomal dominant 2	semapv:ManualMappingCuration	2014-09-09
DOID:0070137	autosomal recessive cutis laxa type IIB	skos:exactMatch	MIM:612940	Cutis laxa, autosomal recessive, type IIB	semapv:ManualMappingCuration	2017-10-03
DOID:0070138	autosomal recessive cutis laxa type IIIB	skos:exactMatch	MIM:614438	Cutis laxa, autosomal recessive, type IIIB	semapv:ManualMappingCuration	2014-09-09
DOID:0070139	autosomal recessive cutis laxa type IC	skos:exactMatch	MIM:613177	Cutis laxa, autosomal recessive, type IC	semapv:ManualMappingCuration	2017-10-03
DOID:0070140	autosomal recessive cutis laxa type IIC	skos:exactMatch	MIM:617402	Cutis laxa, autosomal recessive, type IIC	semapv:ManualMappingCuration	2017-06-14
DOID:0070145	hereditary sensory and autonomic neuropathy type 5	skos:exactMatch	MIM:608654	Neuropathy, hereditary sensory and autonomic, type V	semapv:ManualMappingCuration	2018-01-15
DOID:0070146	hereditary sensory neuropathy type 4	skos:exactMatch	MIM:256800	Insensitivity to pain, congenital, with anhidrosis	semapv:ManualMappingCuration	2018-01-16
DOID:0070147	hereditary sensory neuropathy type 2C	skos:exactMatch	MIM:614213	Neuropathy, hereditary sensory, type IIC	semapv:ManualMappingCuration	2014-09-09
DOID:0070148	hereditary sensory neuropathy type 1B	skos:exactMatch	MIM:608088	Neuropathy, hereditary sensory, type IB	semapv:ManualMappingCuration	2017-10-03
DOID:0070149	hereditary sensory and autonomic neuropathy type 7	skos:exactMatch	MIM:615548	Neuropathy, hereditary sensory and autonomic, type VII	semapv:ManualMappingCuration	2014-09-09
DOID:0070150	hereditary sensory and autonomic neuropathy type 2B	skos:exactMatch	MIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	semapv:ManualMappingCuration	2017-10-03
DOID:0070151	hereditary sensory and autonomic neuropathy type 6	skos:exactMatch	MIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	semapv:ManualMappingCuration	2014-09-09
DOID:0070152	hereditary sensory and autonomic neuropathy type 1A	skos:exactMatch	MIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	semapv:ManualMappingCuration	2014-06-23
DOID:0070153	hereditary sensory and autonomic neuropathy type 8	skos:exactMatch	MIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII	semapv:ManualMappingCuration	2016-09-09
DOID:0070154	hereditary sensory neuropathy type 1F	skos:exactMatch	MIM:615632	Neuropathy, hereditary sensory, type IF	semapv:ManualMappingCuration	2014-09-09
DOID:0070155	hereditary sensory and autonomic neuropathy type 2A	skos:exactMatch	MIM:201300	Neuropathy, hereditary sensory and autonomic, type II	semapv:ManualMappingCuration	2014-06-23
DOID:0070156	hereditary sensory neuropathy type 1D	skos:exactMatch	MIM:613708	Neuropathy, hereditary sensory, type ID	semapv:ManualMappingCuration	2014-09-09
DOID:0070157	hereditary sensory and autonomic neuropathy type 1C	skos:exactMatch	MIM:613640	Neuropathy, hereditary sensory and autonomic, type IC	semapv:ManualMappingCuration	2014-06-23
DOID:0070158	hereditary sensory neuropathy type 1E	skos:exactMatch	MIM:614116	Neuropathy, hereditary sensory, type IE	semapv:ManualMappingCuration	2014-10-20
DOID:0070159	hereditary sensory neuropathy X-linked	skos:exactMatch	MIM:310470	NEUROPATHY, HEREDITARY SENSORY, X-LINKED	semapv:ManualMappingCuration	2018-04-13
DOID:0070160	atypical hereditary sensory neuropathy	skos:exactMatch	MIM:256860	NEUROPATHY, HEREDITARY SENSORY, ATYPICAL	semapv:ManualMappingCuration	2018-04-13
DOID:0070163	spermatogenic failure 21	skos:exactMatch	MIM:617644	?Spermatogenic failure 21	semapv:ManualMappingCuration	2017-12-07
DOID:0070164	spermatogenic failure 2	skos:exactMatch	MIM:108420	Spermatogenic failure 2	semapv:ManualMappingCuration	2014-06-23
DOID:0070165	spermatogenic failure 18	skos:exactMatch	MIM:617576	Spermatogenic failure 18	semapv:ManualMappingCuration	2017-12-07
DOID:0070166	spermatogenic failure 20	skos:exactMatch	MIM:617593	Spermatogenic failure 20	semapv:ManualMappingCuration	2018-04-26
DOID:0070167	spermatogenic failure 6	skos:exactMatch	MIM:102530	?Spermatogenic failure 6	semapv:ManualMappingCuration	2014-06-23
DOID:0070168	spermatogenic failure 3	skos:exactMatch	MIM:606766	Spermatogenic failure 3	semapv:ManualMappingCuration	2017-10-03
DOID:0070169	spermatogenic failure 8	skos:exactMatch	MIM:613957	Spermatogenic failure 8	semapv:ManualMappingCuration	2014-09-02
DOID:0070170	spermatogenic failure 19	skos:exactMatch	MIM:617592	Spermatogenic failure 19	semapv:ManualMappingCuration	2017-12-07
DOID:0070171	spermatogenic failure 12	skos:exactMatch	MIM:615413	Spermatogenic failure 12	semapv:ManualMappingCuration	2014-09-09
DOID:0070172	spermatogenic failure 15	skos:exactMatch	MIM:616950	?Spermatogenic failure 15	semapv:ManualMappingCuration	2016-06-14
DOID:0070173	spermatogenic failure 7	skos:exactMatch	MIM:612997	Spermatogenic failure 7	semapv:ManualMappingCuration	2017-10-03
DOID:0070174	spermatogenic failure 17	skos:exactMatch	MIM:617214	Spermatogenic failure 17	semapv:ManualMappingCuration	2017-06-26
DOID:0070176	spermatogenic failure 4	skos:exactMatch	MIM:270960	Spermatogenic failure 4	semapv:ManualMappingCuration	2014-06-23
DOID:0070177	spermatogenic failure 22	skos:exactMatch	MIM:617706	Spermatogenic failure 22	semapv:ManualMappingCuration	2017-12-07
DOID:0070178	spermatogenic failure 10	skos:exactMatch	MIM:614822	Spermatogenic failure 10	semapv:ManualMappingCuration	2014-09-02
DOID:0070179	spermatogenic failure 14	skos:exactMatch	MIM:615842	?Spermatogenic failure 14	semapv:ManualMappingCuration	2014-09-09
DOID:0070180	spermatogenic failure 11	skos:exactMatch	MIM:615081	Spermatogenic failure 11	semapv:ManualMappingCuration	2014-09-02
DOID:0070181	spermatogenic failure 23	skos:exactMatch	MIM:617707	Spermatogenic failure 23	semapv:ManualMappingCuration	2017-12-07
DOID:0070182	spermatogenic failure 13	skos:exactMatch	MIM:615841	?Spermatogenic failure 13	semapv:ManualMappingCuration	2014-09-09
DOID:0070183	spermatogenic failure 5	skos:exactMatch	MIM:243060	Spermatogenic failure 5	semapv:ManualMappingCuration	2017-10-03
DOID:0070184	spermatogenic failure 16	skos:exactMatch	MIM:617187	Spermatogenic failure 16	semapv:ManualMappingCuration	2017-04-19
DOID:0070185	X-linked spermatogenic failure 2	skos:exactMatch	MIM:309120	Spermatogenic failure, X-linked 2	semapv:ManualMappingCuration	2017-04-19
DOID:0070186	Y-linked spermatogenic failure 1	skos:exactMatch	MIM:400042	Spermatogenic failure, Y-linked, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070187	Y-linked spermatogenic failure 2	skos:exactMatch	MIM:415000	Spermatogenic failure, Y-linked, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0070188	spermatogenic failure 1	skos:exactMatch	MIM:258150	Spermatogenic failure 1	semapv:ManualMappingCuration	2018-08-22
DOID:0070189	X-linked spermatogenic failure 1	skos:exactMatch	MIM:305700	SPERMATOGENIC FAILURE, X-LINKED, 1	semapv:ManualMappingCuration	2018-09-10
DOID:0070191	autosomal recessive chronic granulomatous disease 2	skos:exactMatch	MIM:233710	Chronic granulomatous disease 2, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0070192	autosomal recessive chronic granulomatous disease 1	skos:exactMatch	MIM:233700	Chronic granulomatous disease 1, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0070193	autosomal recessive chronic granulomatous disease 4	skos:exactMatch	MIM:233690	Chronic granulomatous disease 4, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0070194	autosomal recessive chronic granulomatous disease 3	skos:exactMatch	MIM:613960	Chronic granulomatous disease 3, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0070195	X-linked chronic granulomatous disease	skos:exactMatch	MIM:306400	Chronic granulomatous disease, X-linked	semapv:ManualMappingCuration	2017-10-10
DOID:0070196	infantile-onset distal myopathy	skos:exactMatch	MIM:160300	MYOPATHY, DISTAL, INFANTILE-ONSET	semapv:ManualMappingCuration	2018-08-21
DOID:0070197	distal myopathy 1	skos:exactMatch	MIM:160500	Laing distal myopathy	semapv:ManualMappingCuration	2018-09-10
DOID:0070198	Miyoshi muscular dystrophy	skos:exactMatch	MIM:PS254130	Miyoshi muscular dystrophy 1	semapv:ManualMappingCuration	2018-09-12
DOID:0070199	Miyoshi muscular dystrophy 1	skos:exactMatch	MIM:254130	Miyoshi muscular dystrophy 1	semapv:ManualMappingCuration	2018-09-10
DOID:0070200	Miyoshi muscular dystrophy 2	skos:exactMatch	MIM:613318	Miyoshi muscular dystrophy 2	semapv:ManualMappingCuration	2017-10-03
DOID:0070201	Miyoshi muscular dystrophy 3	skos:exactMatch	MIM:613319	Miyoshi muscular dystrophy 3	semapv:ManualMappingCuration	2017-10-03
DOID:0070202	familial partial lipodystrophy type 2	skos:exactMatch	MIM:151660	Lipodystrophy, familial partial, type 2	semapv:ManualMappingCuration	2018-09-10
DOID:0070203	familial partial lipodystrophy type 5	skos:exactMatch	MIM:615238	?Lipodystrophy, familial partial, type 5	semapv:ManualMappingCuration	2014-09-09
DOID:0070204	familial partial lipodystrophy type 3	skos:exactMatch	MIM:604367	Lipodystrophy, familial partial, type 3	semapv:ManualMappingCuration	2018-09-10
DOID:0070205	familial partial lipodystrophy type 4	skos:exactMatch	MIM:613877	Lipodystrophy, familial partial, type 4	semapv:ManualMappingCuration	2018-09-10
DOID:0070206	familial partial lipodystrophy type 6	skos:exactMatch	MIM:615980	Lipodystrophy, familial partial, type 6	semapv:ManualMappingCuration	2018-09-10
DOID:0070207	familial partial lipodystrophy type 1	skos:exactMatch	MIM:608600	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1	semapv:ManualMappingCuration	
DOID:0070208	hereditary lymphedema IC	skos:exactMatch	MIM:613480	Lymphatic malformation 3	semapv:ManualMappingCuration	2014-06-23
DOID:0070209	hereditary lymphedema ID	skos:exactMatch	MIM:615907	Lymphatic malformation 4	semapv:ManualMappingCuration	2017-05-03
DOID:0070210	hereditary lymphedema IA	skos:exactMatch	MIM:153100	Lymphatic malformation 1	semapv:ManualMappingCuration	2018-09-10
DOID:0070211	hereditary lymphedema IB	skos:exactMatch	MIM:611944	Lymphatic malformation 2	semapv:ManualMappingCuration	2017-10-03
DOID:0070213	hereditary lymphedema II	skos:exactMatch	MIM:153200	LYMPHATIC MALFORMATION 5	semapv:ManualMappingCuration	2017-10-03
DOID:0070214	familial hyperinsulinemic hypoglycemia 7	skos:exactMatch	MIM:610021	Hyperinsulinemic hypoglycemia, familial, 7	semapv:ManualMappingCuration	2017-10-03
DOID:0070215	familial hyperinsulinemic hypoglycemia 4	skos:exactMatch	MIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0070216	familial hyperinsulinemic hypoglycemia 3	skos:exactMatch	MIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0070217	familial hyperinsulinemic hypoglycemia 6	skos:exactMatch	MIM:606762	Hyperinsulinism-hyperammonemia syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0070218	familial hyperinsulinemic hypoglycemia 2	skos:exactMatch	MIM:601820	Hyperinsulinemic hypoglycemia, familial, 2	semapv:ManualMappingCuration	2018-09-10
DOID:0070219	familial hyperinsulinemic hypoglycemia 1	skos:exactMatch	MIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	semapv:ManualMappingCuration	2018-09-10
DOID:0070220	familial hyperinsulinemic hypoglycemia 5	skos:exactMatch	MIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0070221	progressive familial intrahepatic cholestasis	skos:exactMatch	MIM:PS211600	Cholestasis, progressive familial intrahepatic 1	semapv:ManualMappingCuration	2018-09-12
DOID:0070222	progressive familial intrahepatic cholestasis 2	skos:exactMatch	MIM:601847	Cholestasis, progressive familial intrahepatic 2	semapv:ManualMappingCuration	2017-10-03
DOID:0070223	progressive familial intrahepatic cholestasis 3	skos:exactMatch	MIM:602347	Cholestasis, progressive familial intrahepatic 3	semapv:ManualMappingCuration	2017-10-03
DOID:0070224	progressive familial intrahepatic cholestasis 4	skos:exactMatch	MIM:615878	Cholestasis, progressive familial intrahepatic 4	semapv:ManualMappingCuration	2017-10-10
DOID:0070225	progressive familial intrahepatic cholestasis 5	skos:exactMatch	MIM:617049	Cholestasis, progressive familial intrahepatic, 5	semapv:ManualMappingCuration	2016-10-11
DOID:0070226	progressive familial intrahepatic cholestasis 1	skos:exactMatch	MIM:211600	Cholestasis, progressive familial intrahepatic 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070228	intrahepatic cholestasis of pregnancy 1	skos:exactMatch	MIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	semapv:ManualMappingCuration	2018-09-10
DOID:0070229	intrahepatic cholestasis of pregnancy 3	skos:exactMatch	MIM:614972	Cholestasis, intrahepatic, of pregnancy, 3	semapv:ManualMappingCuration	2014-09-09
DOID:0070230	benign recurrent intrahepatic cholestasis	skos:exactMatch	MIM:PS243300	Cholestasis, benign recurrent intrahepatic	semapv:ManualMappingCuration	2018-09-12
DOID:0070231	benign recurrent intrahepatic cholestasis 1	skos:exactMatch	MIM:243300	Cholestasis, benign recurrent intrahepatic	semapv:ManualMappingCuration	2018-09-10
DOID:0070232	benign recurrent intrahepatic cholestasis 2	skos:exactMatch	MIM:605479	Cholestasis, benign recurrent intrahepatic, 2	semapv:ManualMappingCuration	2014-06-23
DOID:0070233	Loeys-Dietz syndrome 4	skos:exactMatch	MIM:614816	Loeys-Dietz syndrome 4	semapv:ManualMappingCuration	2014-09-09
DOID:0070234	Loeys-Dietz syndrome 2	skos:exactMatch	MIM:610168	Loeys-Dietz syndrome 2	semapv:ManualMappingCuration	2014-06-23
DOID:0070235	Loeys-Dietz syndrome 1	skos:exactMatch	MIM:609192	Loeys-Dietz syndrome 1	semapv:ManualMappingCuration	2018-09-10
DOID:0070236	Loeys-Dietz syndrome 5	skos:exactMatch	MIM:615582	Loeys-Dietz syndrome 5	semapv:ManualMappingCuration	2014-09-09
DOID:0070237	Loeys-Dietz syndrome 3	skos:exactMatch	MIM:613795	Loeys-Dietz syndrome 3	semapv:ManualMappingCuration	2014-09-09
DOID:0070238	primary coenzyme Q10 deficiency 1	skos:exactMatch	MIM:607426	Coenzyme Q10 deficiency, primary, 1	semapv:ManualMappingCuration	2014-06-23
DOID:0070239	primary coenzyme Q10 deficiency 2	skos:exactMatch	MIM:614651	Coenzyme Q10 deficiency, primary, 2	semapv:ManualMappingCuration	2014-09-09
DOID:0070240	primary coenzyme Q10 deficiency 3	skos:exactMatch	MIM:614652	Coenzyme Q10 deficiency, primary, 3	semapv:ManualMappingCuration	2014-09-09
DOID:0070241	primary coenzyme Q10 deficiency 4	skos:exactMatch	MIM:612016	Coenzyme Q10 deficiency, primary, 4	semapv:ManualMappingCuration	2014-06-23
DOID:0070242	primary coenzyme Q10 deficiency 5	skos:exactMatch	MIM:614654	Coenzyme Q10 deficiency, primary, 5	semapv:ManualMappingCuration	2014-09-09
DOID:0070243	primary coenzyme Q10 deficiency 6	skos:exactMatch	MIM:614650	Coenzyme Q10 deficiency, primary, 6	semapv:ManualMappingCuration	2014-09-09
DOID:0070244	primary coenzyme Q10 deficiency 7	skos:exactMatch	MIM:616276	Coenzyme Q10 deficiency, primary, 7	semapv:ManualMappingCuration	2016-11-08
DOID:0070245	primary coenzyme Q10 deficiency 8	skos:exactMatch	MIM:616733	Coenzyme Q10 deficiency, primary, 8	semapv:ManualMappingCuration	2016-02-09
DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1	skos:exactMatch	MIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	semapv:ManualMappingCuration	2018-09-10
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2	skos:exactMatch	MIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	semapv:ManualMappingCuration	2018-09-10
DOID:0070248	autosomal recessive Emery-Dreifuss muscular dystrophy 3	skos:exactMatch	MIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	semapv:ManualMappingCuration	2018-05-18
DOID:0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4	skos:exactMatch	MIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	semapv:ManualMappingCuration	2018-07-09
DOID:0070250	autosomal dominant Emery-Dreifuss muscular dystrophy 5	skos:exactMatch	MIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	semapv:ManualMappingCuration	2018-09-10
DOID:0070251	X-linked Emery-Dreifuss muscular dystrophy 6	skos:exactMatch	MIM:300696	Emery-Dreifuss muscular dystrophy 6, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0070252	autosomal dominant Emery-Dreifuss muscular dystrophy 7	skos:exactMatch	MIM:614302	Emery-Dreifuss muscular dystrophy 7, AD	semapv:ManualMappingCuration	2014-09-09
DOID:0070253	congenital disorder of glycosylation type IIa	skos:exactMatch	MIM:212066	Congenital disorder of glycosylation, type IIa	semapv:ManualMappingCuration	2017-10-03
DOID:0070254	congenital disorder of glycosylation type IIb	skos:exactMatch	MIM:606056	Congenital disorder of glycosylation, type IIb	semapv:ManualMappingCuration	2017-10-03
DOID:0070255	congenital disorder of glycosylation type IIc	skos:exactMatch	MIM:266265	Congenital disorder of glycosylation, type IIc	semapv:ManualMappingCuration	2017-10-03
DOID:0070256	congenital disorder of glycosylation type IId	skos:exactMatch	MIM:607091	Congenital disorder of glycosylation, type IId	semapv:ManualMappingCuration	2017-10-03
DOID:0070257	congenital disorder of glycosylation type IIe	skos:exactMatch	MIM:608779	Congenital disorder of glycosylation, type IIe	semapv:ManualMappingCuration	2017-10-03
DOID:0070258	congenital disorder of glycosylation type IIf	skos:exactMatch	MIM:603585	Congenital disorder of glycosylation, type IIf	semapv:ManualMappingCuration	2017-10-03
DOID:0070259	congenital disorder of glycosylation type IIg	skos:exactMatch	MIM:611209	Congenital disorder of glycosylation, type IIg	semapv:ManualMappingCuration	2017-10-03
DOID:0070260	congenital disorder of glycosylation type IIh	skos:exactMatch	MIM:611182	Congenital disorder of glycosylation, type IIh	semapv:ManualMappingCuration	2017-10-03
DOID:0070261	congenital disorder of glycosylation type IIi	skos:exactMatch	MIM:613612	Congenital disorder of glycosylation, type IIi	semapv:ManualMappingCuration	2014-06-23
DOID:0070262	congenital disorder of glycosylation type IIj	skos:exactMatch	MIM:613489	Congenital disorder of glycosylation, type IIj	semapv:ManualMappingCuration	2014-06-23
DOID:0070263	congenital disorder of glycosylation type IIk	skos:exactMatch	MIM:614727	Congenital disorder of glycosylation, type IIk	semapv:ManualMappingCuration	2014-09-09
DOID:0070264	congenital disorder of glycosylation type IIl	skos:exactMatch	MIM:614576	Congenital disorder of glycosylation, type IIl	semapv:ManualMappingCuration	2014-09-09
DOID:0070265	congenital disorder of glycosylation type IIm	skos:exactMatch	MIM:300896	Congenital disorder of glycosylation, type IIm	semapv:ManualMappingCuration	2014-09-02
DOID:0070266	congenital disorder of glycosylation type IIn	skos:exactMatch	MIM:616721	Congenital disorder of glycosylation, type IIn	semapv:ManualMappingCuration	2016-01-13
DOID:0070267	congenital disorder of glycosylation type IIo	skos:exactMatch	MIM:616828	Congenital disorder of glycosylation, type IIo	semapv:ManualMappingCuration	2016-04-13
DOID:0070268	congenital disorder of glycosylation type IIp	skos:exactMatch	MIM:616829	Congenital disorder of glycosylation, type IIp	semapv:ManualMappingCuration	2017-10-10
DOID:0070269	congenital disorder of glycosylation type IIq	skos:exactMatch	MIM:617395	?Congenital disorder of glycosylation, type IIq	semapv:ManualMappingCuration	2017-07-11
DOID:0070270	hereditary nonpolyposis colorectal cancer type 8	skos:exactMatch	MIM:613244	Lynch syndrome 8	semapv:ManualMappingCuration	2017-10-03
DOID:0070271	Lynch syndrome 1	skos:exactMatch	MIM:120435	Lynch syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070272	hereditary nonpolyposis colorectal cancer type 5	skos:exactMatch	MIM:614350	Lynch syndrome 5	semapv:ManualMappingCuration	2014-10-20
DOID:0070273	hereditary nonpolyposis colorectal cancer type 6	skos:exactMatch	MIM:614331	Colorectal cancer, hereditary nonpolyposis, type 6	semapv:ManualMappingCuration	2014-10-20
DOID:0070274	hereditary nonpolyposis colorectal cancer type 2	skos:exactMatch	MIM:609310	Lynch syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0070275	hereditary nonpolyposis colorectal cancer type 4	skos:exactMatch	MIM:614337	Lynch syndrome 4	semapv:ManualMappingCuration	2014-10-20
DOID:0070276	hereditary nonpolyposis colorectal cancer type 7	skos:exactMatch	MIM:614385	Colorectal cancer, hereditary nonpolyposis, type 7	semapv:ManualMappingCuration	2014-10-20
DOID:0070277	primary autosomal recessive microcephaly 15	skos:exactMatch	MIM:616486	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities	semapv:ManualMappingCuration	2017-03-30
DOID:0070278	primary autosomal recessive microcephaly 7	skos:exactMatch	MIM:612703	Microcephaly 7, primary, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0070279	primary autosomal recessive microcephaly 14	skos:exactMatch	MIM:616402	Microcephaly 14, primary, autosomal recessive	semapv:ManualMappingCuration	2017-03-30
DOID:0070280	primary autosomal recessive microcephaly 5	skos:exactMatch	MIM:608716	Microcephaly 5, primary, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0070281	primary autosomal recessive microcephaly 19	skos:exactMatch	MIM:617800	?Microcephaly 19, primary, autosomal recessive	semapv:ManualMappingCuration	2018-01-17
DOID:0070282	primary autosomal recessive microcephaly 8	skos:exactMatch	MIM:614673	Microcephaly 8, primary, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0070283	primary autosomal recessive microcephaly 13	skos:exactMatch	MIM:616051	?Microcephaly 13, primary, autosomal recessive	semapv:ManualMappingCuration	2017-03-30
DOID:0070284	primary autosomal recessive microcephaly 12	skos:exactMatch	MIM:616080	?Microcephaly 12, primary, autosomal recessive	semapv:ManualMappingCuration	2017-03-30
DOID:0070285	primary autosomal recessive microcephaly 1	skos:exactMatch	MIM:251200	Microcephaly 1, primary, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0070286	primary autosomal recessive microcephaly 3	skos:exactMatch	MIM:604804	Microcephaly 3, primary, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0070287	primary autosomal recessive microcephaly 11	skos:exactMatch	MIM:615414	?Microcephaly 11, primary, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0070288	primary autosomal recessive microcephaly 17	skos:exactMatch	MIM:617090	Microcephaly 17, primary, autosomal recessive	semapv:ManualMappingCuration	2016-10-18
DOID:0070289	primary autosomal recessive microcephaly 16	skos:exactMatch	MIM:616681	Microcephaly 16, primary, autosomal recessive	semapv:ManualMappingCuration	2016-01-14
DOID:0070290	primary autosomal recessive microcephaly 6	skos:exactMatch	MIM:608393	Microcephaly 6, primary, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0070291	primary autosomal recessive microcephaly 4	skos:exactMatch	MIM:604321	Microcephaly 4, primary, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0070292	primary autosomal recessive microcephaly 9	skos:exactMatch	MIM:614852	Microcephaly 9, primary, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations	skos:exactMatch	MIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	semapv:ManualMappingCuration	2017-10-03
DOID:0070294	primary autosomal recessive microcephaly 10	skos:exactMatch	MIM:615095	Microcephaly 10, primary, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0070295	primary autosomal dominant microcephaly 18	skos:exactMatch	MIM:617520	?Microcephaly 18, primary, autosomal dominant	semapv:ManualMappingCuration	2018-01-17
DOID:0070296	primary autosomal recessive microcephaly	skos:exactMatch	MIM:PS251200	Microcephaly 1, primary, autosomal recessive	semapv:ManualMappingCuration	2018-09-12
DOID:0070298	multiple epiphyseal dysplasia 2	skos:exactMatch	MIM:600204	Epiphyseal dysplasia, multiple, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0070299	multiple epiphyseal dysplasia 5	skos:exactMatch	MIM:607078	Epiphyseal dysplasia, multiple, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0070300	multiple epiphyseal dysplasia 4	skos:exactMatch	MIM:226900	Epiphyseal dysplasia, multiple, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0070301	multiple epiphyseal dysplasia 6	skos:exactMatch	MIM:614135	?Epiphyseal dysplasia, multiple, 6	semapv:ManualMappingCuration	2014-09-09
DOID:0070302	multiple epiphyseal dysplasia 7	skos:exactMatch	MIM:617719	Epiphyseal dysplasia, multiple, 7	semapv:ManualMappingCuration	2017-12-04
DOID:0070303	multiple epiphyseal dysplasia 1	skos:exactMatch	MIM:132400	Epiphyseal dysplasia, multiple, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070304	multiple epiphyseal dysplasia 3	skos:exactMatch	MIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy	semapv:ManualMappingCuration	2017-10-03
DOID:0070307	craniolenticulosutural dysplasia	skos:exactMatch	MIM:607812	Craniolenticulosutural dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0070308	rippling muscle disease 1	skos:exactMatch	MIM:600332	Rippling muscle disease-1	semapv:ManualMappingCuration	2018-09-11
DOID:0070316	Miura type epiphyseal chondrodysplasia	skos:exactMatch	MIM:615923	Epiphyseal chondrodysplasia, Miura type	semapv:ManualMappingCuration	2017-03-09
DOID:0070329	mitochondrial DNA depletion syndrome	skos:exactMatch	MIM:PS603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	semapv:ManualMappingCuration	2019-03-19
DOID:0070330	multiple mitochondrial dysfunctions syndrome	skos:exactMatch	MIM:PS605711	Multiple mitochondrial dysfunctions syndrome 1	semapv:ManualMappingCuration	2019-03-19
DOID:0070331	mitochondrial DNA depletion syndrome 8b	skos:exactMatch	MIM:277320	VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA	semapv:ManualMappingCuration	2020-12-16
DOID:0070331	mitochondrial DNA depletion syndrome 8b	skos:exactMatch	MIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	semapv:ManualMappingCuration	2017-10-03
DOID:0070332	multiple mitochondrial dysfunctions syndrome 6	skos:exactMatch	MIM:617954	Multiple mitochondrial dysfunctions syndrome 6	semapv:ManualMappingCuration	2018-08-15
DOID:0070336	arthrogryposis multiplex congenita-6	skos:exactMatch	MIM:619334	Arthrogryposis multiplex congenita 6	semapv:ManualMappingCuration	2021-05-28
DOID:0070337	epithelial recurrent erosion dystrophy	skos:exactMatch	MIM:122400	Epithelial recurrent erosion dystrophy	semapv:ManualMappingCuration	2017-10-10
DOID:0070339	cerebellar hyplasia/atrophy, epilepsy, and global developmental delay	skos:exactMatch	MIM:213000	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	semapv:ManualMappingCuration	2018-04-16
DOID:0070340	classic citrullinemia	skos:exactMatch	MIM:215700	Citrullinemia	semapv:ManualMappingCuration	2017-10-03
DOID:0070341	neonatal-onset type II citrullinemia	skos:exactMatch	MIM:605814	Citrullinemia, type II, neonatal-onset	semapv:ManualMappingCuration	2017-10-03
DOID:0070342	adult-onset type II citrullinemia	skos:exactMatch	MIM:603471	Citrullinemia, adult-onset type II	semapv:ManualMappingCuration	2017-10-03
DOID:0070343	CSF1R-related brain malformation and osteopetrosis	skos:exactMatch	MIM:600329	OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY	semapv:ManualMappingCuration	2020-03-19
DOID:0070345	vertebral anomalies and variable endocrine and T-cell dysfunction	skos:exactMatch	MIM:618223	Vertebral anomalies and variable endocrine and T-cell dysfunction	semapv:ManualMappingCuration	2019-06-21
DOID:0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	skos:exactMatch	MIM:618571	Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	semapv:ManualMappingCuration	2019-10-10
DOID:0070347	encephalopathy due to defective mitochondrial and peroxisomal fission 1	skos:exactMatch	MIM:614388	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	semapv:ManualMappingCuration	2014-09-09
DOID:0070348	spinal muscular atrophy with lower extremity predominant	skos:exactMatch	MIM:PS158600	Spinal muscular atrophy, lower extremity-predominant 1, AD	semapv:ManualMappingCuration	2020-03-19
DOID:0070349	spinal muscular atrophy with lower extremity predominant 2A	skos:exactMatch	MIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant	semapv:ManualMappingCuration	2014-09-09
DOID:0070350	spinal muscular atrophy with lower extremity predominant 2B	skos:exactMatch	MIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	semapv:ManualMappingCuration	2019-05-08
DOID:0070351	spinal muscular atrophy with lower extremity predominant 1	skos:exactMatch	MIM:158600	Spinal muscular atrophy, lower extremity-predominant 1, AD	semapv:ManualMappingCuration	2018-07-03
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures	skos:exactMatch	MIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	semapv:ManualMappingCuration	2019-01-15
DOID:0070353	cataract 47	skos:exactMatch	MIM:612018	Cataract 47, juvenile, with microcornea	semapv:ManualMappingCuration	2017-10-03
DOID:0070354	cataract 48	skos:exactMatch	MIM:618415	Cataract 48	semapv:ManualMappingCuration	2019-05-30
DOID:0070356	visual impairment and progressive phthisis bulbi	skos:exactMatch	MIM:618283	?Visual impairment and progressive phthisis bulbi	semapv:ManualMappingCuration	2019-07-19
DOID:0070357	nephrotic syndrome type 20	skos:exactMatch	MIM:301028	Nephrotic syndrome, type 20	semapv:ManualMappingCuration	2019-07-15
DOID:0070358	primary biliary cholangitis 1	skos:exactMatch	MIM:109720	Biliary cirrhosis, primary, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070359	primary biliary cholangitis 2	skos:exactMatch	MIM:613007	{Biliary cirrhosis, primary, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:0070360	primary biliary cholangitis 3	skos:exactMatch	MIM:613008	{Biliary cirrhosis, primary, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:0070361	primary biliary cholangitis 4	skos:exactMatch	MIM:614220	Biliary cirrhosis, primary, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0070362	primary biliary cholangitis 5	skos:exactMatch	MIM:614221	Biliary cirrhosis, primary, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0070363	bradyopsia 1	skos:exactMatch	MIM:608415	Prolonged electroretinal response suppression 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070364	bradyopsia 2	skos:exactMatch	MIM:620344	Prolonged electroretinal response suppression 2	semapv:ManualMappingCuration	2023-04-25
DOID:0070365	nevoid basal cell carcinoma syndrome 1	skos:exactMatch	MIM:109400	Basal cell nevus syndrome 1	semapv:ManualMappingCuration	2023-04-24
DOID:0070366	nevoid basal cell carcinoma syndrome 2	skos:exactMatch	MIM:620343	Basal cell nevus syndrome 2	semapv:ManualMappingCuration	2023-04-24
DOID:0070367	leukoencephalopathy with vanishing white matter 5	skos:exactMatch	MIM:620315	Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure	semapv:ManualMappingCuration	2023-04-18
DOID:0070368	autosomal recessive chronic granulomatous disease 5	skos:exactMatch	MIM:618935	Chronic granulomatous disease 5, autosomal recessive	semapv:ManualMappingCuration	2020-07-07
DOID:0070369	restrictive dermopathy 1	skos:exactMatch	MIM:275210	Restrictive dermopathy 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070370	restrictive dermopathy 2	skos:exactMatch	MIM:619793	Restrictive dermopathy 2	semapv:ManualMappingCuration	2022-03-24
DOID:0070371	leukoencephalopathy with vanishing white matter 4	skos:exactMatch	MIM:620314	Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure	semapv:ManualMappingCuration	2023-04-18
DOID:0070372	leukoencephalopathy with vanishing white matter 3	skos:exactMatch	MIM:620313	Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure	semapv:ManualMappingCuration	2023-04-18
DOID:0070373	leukoencephalopathy with vanishing white matter 2	skos:exactMatch	MIM:620312	Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure	semapv:ManualMappingCuration	2023-04-18
DOID:0070374	leukoencephalopathy with vanishing white matter 1	skos:exactMatch	MIM:603896	Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure	semapv:ManualMappingCuration	2017-10-03
DOID:0070375	developmental and epileptic encephalopathy 64	skos:exactMatch	MIM:618004	Developmental and epileptic encephalopathy 64	semapv:ManualMappingCuration	2018-07-10
DOID:0070376	developmental and epileptic encephalopathy 31B	skos:exactMatch	MIM:620352	Developmental and epileptic encephalopathy 31B, autosomal recessive	semapv:ManualMappingCuration	2023-04-28
DOID:0070377	developmental and epileptic encephalopathy 96	skos:exactMatch	MIM:619340	Developmental and epileptic encephalopathy 96	semapv:ManualMappingCuration	2021-06-01
DOID:0070378	developmental and epileptic encephalopathy 109	skos:exactMatch	MIM:620145	Developmental and epileptic encephalopathy 109	semapv:ManualMappingCuration	2022-12-12
DOID:0070379	developmental and epileptic encephalopathy 6B	skos:exactMatch	MIM:619317	Developmental and epileptic encephalopathy 6B, non-Dravet	semapv:ManualMappingCuration	2021-05-18
DOID:0070380	developmental and epileptic encephalopathy 85	skos:exactMatch	MIM:301044	Developmental and epileptic encephalopathy 85, with or without midline brain defects	semapv:ManualMappingCuration	2020-04-15
DOID:0070381	developmental and epileptic encephalopathy 90	skos:exactMatch	MIM:301058	Developmental and epileptic encephalopathy 90	semapv:ManualMappingCuration	2021-02-19
DOID:0070382	developmental and epileptic encephalopathy 95	skos:exactMatch	MIM:618143	Developmental and epileptic encephalopathy 95	semapv:ManualMappingCuration	2019-01-14
DOID:0070383	developmental and epileptic encephalopathy 97	skos:exactMatch	MIM:619561	Developmental and epileptic encephalopathy 97	semapv:ManualMappingCuration	2021-10-15
DOID:0070384	developmental and epileptic encephalopathy 98	skos:exactMatch	MIM:619605	Developmental and epileptic encephalopathy 98	semapv:ManualMappingCuration	2021-11-15
DOID:0070385	developmental and epileptic encephalopathy 99	skos:exactMatch	MIM:619606	Developmental and epileptic encephalopathy 99	semapv:ManualMappingCuration	2021-11-15
DOID:0070386	developmental and epileptic encephalopathy 100	skos:exactMatch	MIM:619777	Developmental and epileptic encephalopathy 100	semapv:ManualMappingCuration	2022-03-10
DOID:0070387	developmental and epileptic encephalopathy 101	skos:exactMatch	MIM:619814	Developmental and epileptic encephalopathy 101	semapv:ManualMappingCuration	2022-03-28
DOID:0070388	developmental and epileptic encephalopathy 102	skos:exactMatch	MIM:619881	Developmental and epileptic encephalopathy 102	semapv:ManualMappingCuration	2022-05-31
DOID:0070389	developmental and epileptic encephalopathy 103	skos:exactMatch	MIM:619913	Developmental and epileptic encephalopathy 103	semapv:ManualMappingCuration	2022-06-16
DOID:0070390	developmental and epileptic encephalopathy 104	skos:exactMatch	MIM:619970	Developmental and epileptic encephalopathy 104	semapv:ManualMappingCuration	2022-07-27
DOID:0070391	developmental and epileptic encephalopathy 105	skos:exactMatch	MIM:619983	Developmental and epileptic encephalopathy 105 with hypopituitarism	semapv:ManualMappingCuration	2022-08-08
DOID:0070392	developmental and epileptic encephalopathy 106	skos:exactMatch	MIM:620028	Developmental and epileptic encephalopathy 106	semapv:ManualMappingCuration	2022-09-08
DOID:0070393	developmental and epileptic encephalopathy 107	skos:exactMatch	MIM:620033	Developmental and epileptic encephalopathy 107	semapv:ManualMappingCuration	2022-09-16
DOID:0070394	developmental and epileptic encephalopathy 108	skos:exactMatch	MIM:620115	Developmental and epileptic encephalopathy 108	semapv:ManualMappingCuration	2022-11-14
DOID:0070395	developmental and epileptic encephalopathy 110	skos:exactMatch	MIM:620149	Developmental and epileptic encephalopathy 110	semapv:ManualMappingCuration	2022-12-12
DOID:0070396	progressive leukoencephalopathy with ovarian failure	skos:exactMatch	MIM:615889	Leukoencephalopathy, progressive, with ovarian failure	semapv:ManualMappingCuration	2017-05-02
DOID:0070397	hypomyelinating leukodystrophy 23	skos:exactMatch	MIM:619688	Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy	semapv:ManualMappingCuration	2022-01-11
DOID:0070398	hypomyelinating leukodystrophy 15	skos:exactMatch	MIM:617951	Leukodystrophy, hypomyelinating, 15	semapv:ManualMappingCuration	2018-08-15
DOID:0070399	hypomyelinating leukodystrophy 18	skos:exactMatch	MIM:618404	Leukodystrophy, hypomyelinating, 18	semapv:ManualMappingCuration	2019-05-03
DOID:0070400	hypomyelinating leukodystrophy 19	skos:exactMatch	MIM:618688	Leukodystrophy, hypomyelinating, 19, transient infantile	semapv:ManualMappingCuration	2019-12-16
DOID:0070401	hypomyelinating leukodystrophy 25	skos:exactMatch	MIM:620243	Leukodystrophy, hypomyelinating, 25	semapv:ManualMappingCuration	2023-02-16
DOID:0070402	hypomyelinating leukodystrophy 22	skos:exactMatch	MIM:619328	Leukodystrophy, hypomyelinating, 22	semapv:ManualMappingCuration	2021-05-21
DOID:0070403	hypomyelinating leukodystrophy 26	skos:exactMatch	MIM:620269	Leukodystrophy, hypomyelinating, 26, with chondrodysplasia	semapv:ManualMappingCuration	2023-03-01
DOID:0070404	hypomyelinating leukodystrophy 17	skos:exactMatch	MIM:618006	Leukodystrophy, hypomyelinating, 17	semapv:ManualMappingCuration	2018-07-10
DOID:0070405	hypomyelinating leukodystrophy 16	skos:exactMatch	MIM:617964	Leukodystrophy, hypomyelinating, 16	semapv:ManualMappingCuration	2018-06-19
DOID:0070406	hypomyelinating leukodystrophy 24	skos:exactMatch	MIM:619851	?Leukodystrophy, hypomyelinating, 24	semapv:ManualMappingCuration	2022-04-25
DOID:0070407	hypomyelinating leukodystrophy 21	skos:exactMatch	MIM:619310	Leukodystrophy, hypomyelinating, 21	semapv:ManualMappingCuration	2021-05-07
DOID:0070408	Hengel-Maroofian-Schols syndrome	skos:exactMatch	MIM:619641	Hengel-Maroofian-Schols syndrome	semapv:ManualMappingCuration	2022-02-07
DOID:0070409	autosomal recessive spinocerebellar ataxia 28	skos:exactMatch	MIM:618800	Spinocerebellar ataxia, autosomal recessive 28	semapv:ManualMappingCuration	2020-03-13
DOID:0070410	autosomal recessive spinocerebellar ataxia 29	skos:exactMatch	MIM:619389	Spinocerebellar ataxia, autosomal recessive 29	semapv:ManualMappingCuration	2021-07-07
DOID:0070411	autosomal recessive spinocerebellar ataxia 30	skos:exactMatch	MIM:619405	Spinocerebellar ataxia, autosomal recessive 30	semapv:ManualMappingCuration	2021-07-07
DOID:0070412	autosomal recessive spinocerebellar ataxia 31	skos:exactMatch	MIM:619422	Spinocerebellar ataxia, autosomal recessive 31	semapv:ManualMappingCuration	2021-07-16
DOID:0070413	autosomal recessive spinocerebellar ataxia 32	skos:exactMatch	MIM:619862	Spinocerebellar ataxia, autosomal recessive 32	semapv:ManualMappingCuration	2022-05-09
DOID:0070414	autosomal recessive spinocerebellar ataxia 33	skos:exactMatch	MIM:620208	?Spinocerebellar ataxia, autosomal recessive 33	semapv:ManualMappingCuration	2023-01-18
DOID:0070415	brachycephaly, trichomegaly, and developmental delay	skos:exactMatch	MIM:617412	Brachycephaly, trichomegaly, and developmental delay	semapv:ManualMappingCuration	2017-06-16
DOID:0070416	Luo-Schoch-Yamamoto syndrome	skos:exactMatch	MIM:619460	Luo-Schoch-Yamamoto syndrome	semapv:ManualMappingCuration	2021-10-21
DOID:0070417	neurodevelopmental disorder with speech impairment and dysmorphic facies	skos:exactMatch	MIM:619056	Neurodevelopmental disorder with speech impairment and dysmorphic facies	semapv:ManualMappingCuration	2020-12-15
DOID:0070418	vertebral hypersegmentation and orofacial anomalies	skos:exactMatch	MIM:619122	?Vertebral hypersegmentation and orofacial anomalies	semapv:ManualMappingCuration	2022-03-31
DOID:0070419	acrocardiofacial syndrome	skos:exactMatch	MIM:600460	CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY	semapv:ManualMappingCuration	
DOID:0070420	developmental delay, hypotonia, and impaired language	skos:exactMatch	MIM:620012	Developmental delay, hypotonia, and impaired language	semapv:ManualMappingCuration	2022-11-08
DOID:0070421	neurodevelopmental disorder with spasticity and poor growth	skos:exactMatch	MIM:618076	Neurodevelopmental disorder with spasticity and poor growth	semapv:ManualMappingCuration	2018-09-13
DOID:0070422	syndromic X-linked intellectual disability Pilorge type	skos:exactMatch	MIM:301076	Intellectual developmental disorder, X-linked syndromic, Pilorge type	semapv:ManualMappingCuration	2022-04-18
DOID:0070423	early onset progressive encephalopathy with brain atrophy and thin corpus callosum	skos:exactMatch	MIM:617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	semapv:ManualMappingCuration	2017-06-15
DOID:0070424	combined oxidative phosphorylation deficiency 44	skos:exactMatch	MIM:618855	Combined oxidative phosphorylation deficiency 44	semapv:ManualMappingCuration	2020-05-01
DOID:0070425	combined oxidative phosphorylation deficiency 52	skos:exactMatch	MIM:619386	Combined oxidative phosphorylation deficiency 52	semapv:ManualMappingCuration	2021-06-23
DOID:0070426	combined oxidative phosphorylation deficiency 53	skos:exactMatch	MIM:619423	Combined oxidative phosphorylation deficiency 53	semapv:ManualMappingCuration	2021-07-16
DOID:0070427	combined oxidative phosphorylation deficiency 54	skos:exactMatch	MIM:619737	Combined oxidative phosphorylation deficiency 54	semapv:ManualMappingCuration	2022-02-10
DOID:0070428	combined oxidative phosphorylation deficiency 55	skos:exactMatch	MIM:619743	Combined oxidative phosphorylation deficiency 55	semapv:ManualMappingCuration	2022-02-11
DOID:0070429	combined oxidative phosphorylation deficiency 56	skos:exactMatch	MIM:620139	Combined oxidative phosphorylation deficiency 56	semapv:ManualMappingCuration	2022-11-28
DOID:0070430	combined oxidative phosphorylation deficiency 57	skos:exactMatch	MIM:620167	Combined oxidative phosphorylation deficiency 57	semapv:ManualMappingCuration	2023-01-09
DOID:0070431	hyperphosphatasia with impaired intellectual development syndrome	skos:exactMatch	MIM:PS239300	Hyperphosphatasia with impaired intellectual development syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:0070432	hyperphosphatasia with impaired intellectual development syndrome 5	skos:exactMatch	MIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	semapv:ManualMappingCuration	2017-04-27
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1	skos:exactMatch	MIM:239300	Hyperphosphatasia with impaired intellectual development syndrome 1	semapv:ManualMappingCuration	2017-07-25
DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2	skos:exactMatch	MIM:614749	Hyperphosphatasia with impaired intellectual development syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:0070435	hyperphosphatasia with impaired intellectual development syndrome 3	skos:exactMatch	MIM:614207	Hyperphosphatasia with impaired intellectual development syndrome 3	semapv:ManualMappingCuration	2014-06-23
DOID:0070436	hyperphosphatasia with impaired intellectual development syndrome 4	skos:exactMatch	MIM:615716	Hyperphosphatasia with impaired intellectual development syndrome 4	semapv:ManualMappingCuration	2015-07-01
DOID:0070437	hyperphosphatasia with impaired intellectual development syndrome 6	skos:exactMatch	MIM:616809	Hyperphosphatasia with impaired intellectual development syndrome 6	semapv:ManualMappingCuration	2016-03-10
DOID:0070438	retinal macular dystrophy	skos:exactMatch	MIM:PS136550	Macular dystrophy 1	semapv:ManualMappingCuration	2023-06-29
DOID:0070439	North Carolina macular dystrophy	skos:exactMatch	MIM:136550	Macular dystrophy 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070440	retinal macular dystrophy 3	skos:exactMatch	MIM:608850	Macular dystrophy, retinal, 3	semapv:ManualMappingCuration	2014-06-23
DOID:0070441	retinal macular dystrophy 4	skos:exactMatch	MIM:619977	Macular dystrophy, retinal, 4	semapv:ManualMappingCuration	2022-07-27
DOID:0070442	paroxysmal nonkinesigenic dyskinesia 3	skos:exactMatch	MIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	semapv:ManualMappingCuration	2017-10-03
DOID:0070443	neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	skos:exactMatch	MIM:619333	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	semapv:ManualMappingCuration	2021-08-13
DOID:0070444	neurodevelopmental disorder with language delay and seizures	skos:exactMatch	MIM:619908	Neurodevelopmental disorder with language delay and seizures	semapv:ManualMappingCuration	2022-11-14
DOID:0070445	early-onset dystonia and/or spastic paraplegia	skos:exactMatch	MIM:619681	Dystonia, early-onset, and/or spastic paraplegia	semapv:ManualMappingCuration	2022-01-06
DOID:0070446	mitochondrial DNA depletion syndrome 16	skos:exactMatch	MIM:618528	?Mitochondrial DNA depletion syndrome 16 (hepatic type)	semapv:ManualMappingCuration	2019-09-03
DOID:0070447	mitochondrial DNA depletion syndrome 16B	skos:exactMatch	MIM:619425	?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)	semapv:ManualMappingCuration	2021-08-23
DOID:0070448	mitochondrial DNA depletion syndrome 17	skos:exactMatch	MIM:618567	Mitochondrial DNA depletion syndrome 17	semapv:ManualMappingCuration	2019-09-05
DOID:0070449	mitochondrial DNA depletion syndrome 18	skos:exactMatch	MIM:618811	?Mitochondrial DNA depletion syndrome 18	semapv:ManualMappingCuration	2020-03-20
DOID:0070450	mitochondrial DNA depletion syndrome 19	skos:exactMatch	MIM:618972	?Mitochondrial DNA depletion syndrome 19	semapv:ManualMappingCuration	2020-08-05
DOID:0070451	mitochondrial DNA depletion syndrome 20	skos:exactMatch	MIM:619780	Mitochondrial DNA depletion syndrome 20 (MNGIE type)	semapv:ManualMappingCuration	2022-03-24
DOID:0070452	xanthinuria type I	skos:exactMatch	MIM:278300	Xanthinuria, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0070453	xanthinuria type II	skos:exactMatch	MIM:603592	Xanthinuria, type II	semapv:ManualMappingCuration	2017-04-19
DOID:0070454	hereditary spastic paraplegia 70	skos:exactMatch	MIM:620323	Spastic paraplegia 70, autosomal recessive	semapv:ManualMappingCuration	2023-04-21
DOID:0070455	hereditary spastic paraplegia 79A	skos:exactMatch	MIM:620221	Spastic paraplegia 79A, autosomal dominant	semapv:ManualMappingCuration	2023-01-30
DOID:0070456	hereditary spastic paraplegia 87	skos:exactMatch	MIM:619966	Spastic paraplegia 87, autosomal recessive	semapv:ManualMappingCuration	2022-07-28
DOID:0070457	hereditary spastic paraplegia 88	skos:exactMatch	MIM:620106	Spastic paraplegia 88, autosomal dominant	semapv:ManualMappingCuration	2022-11-04
DOID:0070458	hereditary spastic paraplegia 89	skos:exactMatch	MIM:620379	Spastic paraplegia 89, autosomal recessive	semapv:ManualMappingCuration	2023-05-30
DOID:0070459	hereditary spastic paraplegia 90A	skos:exactMatch	MIM:620416	Spastic paraplegia 90A, autosomal dominant	semapv:ManualMappingCuration	2023-07-21
DOID:0070460	hereditary spastic paraplegia 90B	skos:exactMatch	MIM:620417	?Spastic paraplegia 90B, autosomal recessive	semapv:ManualMappingCuration	2023-07-21
DOID:0070461	mitochondrial complex V (ATP synthase) deficiency nuclear type 4A	skos:exactMatch	MIM:620358	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A	semapv:ManualMappingCuration	2023-05-05
DOID:0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B	skos:exactMatch	MIM:615228	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type	semapv:ManualMappingCuration	2014-09-09
DOID:0070463	mitochondrial complex V (ATP synthase) deficiency nuclear type 5	skos:exactMatch	MIM:618120	Mitochondrial complex V (ATP synthase) deficiency	semapv:ManualMappingCuration	2018-10-11
DOID:0070464	mitochondrial complex V (ATP synthase) deficiency nuclear type 7	skos:exactMatch	MIM:620359	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7	semapv:ManualMappingCuration	2023-05-05
DOID:0070465	spinocerebellar ataxia with axonal neuropathy type 3	skos:exactMatch	MIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	semapv:ManualMappingCuration	2019-05-01
DOID:0070466	carpal tunnel syndrome 1	skos:exactMatch	MIM:115430	Carpal tunnel syndrome, familial	semapv:ManualMappingCuration	2017-10-03
DOID:0070467	carpal tunnel syndrome 2	skos:exactMatch	MIM:619161	Carpal tunnel syndrome 2	semapv:ManualMappingCuration	2021-01-20
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome	skos:exactMatch	MIM:619701	Yoon-Bellen neurodevelopmental syndrome	semapv:ManualMappingCuration	2022-04-04
DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	skos:exactMatch	MIM:619480	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	semapv:ManualMappingCuration	2021-10-21
DOID:0070470	chromosome 1p36.33 duplication syndrome	skos:exactMatch	MIM:618815	Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster	semapv:ManualMappingCuration	2022-10-31
DOID:0070471	early-onset epilepsy 2	skos:exactMatch	MIM:618832	Epilepsy, early-onset, 2, with or without developmental delay	semapv:ManualMappingCuration	2020-07-10
DOID:0070472	early-onset epilepsy 3	skos:exactMatch	MIM:620465	Epilepsy, early-onset, 3, with or without developmental delay	semapv:ManualMappingCuration	2023-09-14
DOID:0070473	Zaki syndrome	skos:exactMatch	MIM:619648	Zaki syndrome	semapv:ManualMappingCuration	2022-02-17
DOID:0070474	childhood-onset neurodegeneration with brain atrophy	skos:exactMatch	MIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	semapv:ManualMappingCuration	2017-12-06
DOID:0070476	diphthamide deficiency syndrome	skos:exactMatch	MIM:PS616901	Developmental delay with short stature, dysmorphic facial features, and sparse hair	semapv:ManualMappingCuration	2023-10-23
DOID:0070477	diphthamide deficiency syndrome 1	skos:exactMatch	MIM:616901	Developmental delay with short stature, dysmorphic facial features, and sparse hair	semapv:ManualMappingCuration	2016-05-19
DOID:0070478	diphthamide deficiency syndrome 2	skos:exactMatch	MIM:620062	Developmental delay with short stature, dysmorphic facial features, and sparse hair 2	semapv:ManualMappingCuration	2022-11-21
DOID:0070479	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	skos:exactMatch	MIM:620070	Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	semapv:ManualMappingCuration	2022-11-08
DOID:0070480	schwannomatosis 1	skos:exactMatch	MIM:162091	{Schwannomatosis-1, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0070481	schwannomatosis 2	skos:exactMatch	MIM:615670	{Schwannomatosis-2, susceptibility to}	semapv:ManualMappingCuration	2015-07-07
DOID:0070482	spinal neurofibromatosis	skos:exactMatch	MIM:162210	Neurofibromatosis, familial spinal	semapv:ManualMappingCuration	2017-10-03
DOID:0070483	Watson syndrome	skos:exactMatch	MIM:193520	Watson syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0070484	Legius syndrome	skos:exactMatch	MIM:611431	Legius syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0070485	mitochondrial complex IV deficiency nuclear type 23	skos:exactMatch	MIM:620275	Mitochondrial complex IV deficiency, nuclear type 23	semapv:ManualMappingCuration	2023-03-08
DOID:0070486	Parkinson's disease 25	skos:exactMatch	MIM:620482	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	semapv:ManualMappingCuration	2023-09-01
DOID:0070487	dopamine transporter deficiency syndrome	skos:exactMatch	MIM:PS613135	Parkinsonism-dystonia, infantile, 1	semapv:ManualMappingCuration	2019-04-22
DOID:0070489	classic dopamine transporter deficiency syndrome	skos:exactMatch	MIM:613135	Parkinsonism-dystonia, infantile, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070490	infantile parkinsonism-dystonia 2	skos:exactMatch	MIM:618049	Parkinsonism-dystonia, infantile, 2	semapv:ManualMappingCuration	2018-08-15
DOID:0070491	mitochondrial complex IV deficiency nuclear type 1	skos:exactMatch	MIM:220110	Mitochondrial complex IV deficiency, nuclear type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070492	mitochondrial complex IV deficiency nuclear type 3	skos:exactMatch	MIM:619046	Mitochondrial complex IV deficiency, nuclear type 3	semapv:ManualMappingCuration	2020-10-26
DOID:0070493	mitochondrial complex IV deficiency nuclear type 4	skos:exactMatch	MIM:619048	Mitochondrial complex IV deficiency, nuclear type 4	semapv:ManualMappingCuration	2020-10-26
DOID:0070494	mitochondrial complex IV deficiency nuclear type 7	skos:exactMatch	MIM:619051	Mitochondrial complex IV deficiency, nuclear type 7	semapv:ManualMappingCuration	2020-10-26
DOID:0070495	mitochondrial complex IV deficiency nuclear type 8	skos:exactMatch	MIM:619052	Mitochondrial complex IV deficiency, nuclear type 8	semapv:ManualMappingCuration	2020-10-26
DOID:0070496	mitochondrial complex IV deficiency nuclear type 10	skos:exactMatch	MIM:619053	?Mitochondrial complex IV deficiency, nuclear type 10	semapv:ManualMappingCuration	2020-10-26
DOID:0070497	mitochondrial complex IV deficiency nuclear type 11	skos:exactMatch	MIM:619054	Mitochondrial complex IV deficiency, nuclear type 11	semapv:ManualMappingCuration	2020-10-26
DOID:0070498	mitochondrial complex IV deficiency nuclear type 12	skos:exactMatch	MIM:619055	Mitochondrial complex IV deficiency, nuclear type 12	semapv:ManualMappingCuration	2020-10-26
DOID:0070499	mitochondrial complex IV deficiency nuclear type 14	skos:exactMatch	MIM:619058	?Mitochondrial complex IV deficiency, nuclear type 14	semapv:ManualMappingCuration	2020-10-26
DOID:0070500	mitochondrial complex IV deficiency nuclear type 15	skos:exactMatch	MIM:619059	?Mitochondrial complex IV deficiency, nuclear type 15	semapv:ManualMappingCuration	2020-10-26
DOID:0070501	mitochondrial complex IV deficiency nuclear type 16	skos:exactMatch	MIM:619060	Mitochondrial complex IV deficiency, nuclear type 16	semapv:ManualMappingCuration	2020-10-26
DOID:0070502	mitochondrial complex IV deficiency nuclear type 17	skos:exactMatch	MIM:619061	Mitochondrial complex IV deficiency, nuclear type 17	semapv:ManualMappingCuration	2020-10-26
DOID:0070503	mitochondrial complex IV deficiency nuclear type 18	skos:exactMatch	MIM:619062	Mitochondrial complex IV deficiency, nuclear type 18	semapv:ManualMappingCuration	2020-10-26
DOID:0070504	mitochondrial complex IV deficiency nuclear type 19	skos:exactMatch	MIM:619063	?Mitochondrial complex IV deficiency, nuclear type 19	semapv:ManualMappingCuration	2020-10-26
DOID:0070505	mitochondrial complex IV deficiency nuclear type 20	skos:exactMatch	MIM:619064	Mitochondrial complex IV deficiency, nuclear type 20	semapv:ManualMappingCuration	2020-10-26
DOID:0070506	mitochondrial complex IV deficiency nuclear type 21	skos:exactMatch	MIM:619065	?Mitochondrial complex IV deficiency, nuclear type 21	semapv:ManualMappingCuration	2020-10-26
DOID:0070507	mitochondrial complex IV deficiency nuclear type 22	skos:exactMatch	MIM:619355	Mitochondrial complex IV deficiency, nuclear type 22	semapv:ManualMappingCuration	2021-06-01
DOID:0070509	Schinzel Giedion syndrome	skos:exactMatch	MIM:269150	Schinzel-Giedion midface retraction syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0070510	inflammatory poikiloderma with hair abnormalities and acral keratoses	skos:exactMatch	MIM:620199	Inflammatory poikiloderma with hair abnormalities and acral keratoses	semapv:ManualMappingCuration	2023-01-16
DOID:0070511	polyhydramnios, megalencephaly, and symptomatic epilepsy	skos:exactMatch	MIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	semapv:ManualMappingCuration	2017-10-03
DOID:0070512	neurodevelopmental disorder with hypotonia and speech delay	skos:exactMatch	MIM:620455	Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	semapv:ManualMappingCuration	2023-09-19
DOID:0070513	neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	skos:exactMatch	MIM:620489	Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	semapv:ManualMappingCuration	2023-12-20
DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	skos:exactMatch	MIM:617755	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	semapv:ManualMappingCuration	2018-01-17
DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb	skos:exactMatch	MIM:611913	Chromosome 16p11.2 deletion syndrome, 593kb	semapv:ManualMappingCuration	2017-10-03
DOID:0070516	Mitchell syndrome	skos:exactMatch	MIM:618960	Mitchell syndrome	semapv:ManualMappingCuration	2020-11-03
DOID:0070517	retinal macular dystrophy 2	skos:exactMatch	MIM:608051	Macular dystrophy, retinal, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0070518	familial multiple lipomatosis	skos:exactMatch	MIM:151900	LIPOMATOSIS, FAMILIAL MULTIPLE	semapv:ManualMappingCuration	2014-06-23
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4	skos:exactMatch	MIM:266100	Epilepsy, early-onset, 4, vitamin B6-dependent	semapv:ManualMappingCuration	2017-10-03
DOID:0070520	peeling skin syndrome 1	skos:exactMatch	MIM:270300	Peeling skin syndrome 1	semapv:ManualMappingCuration	2018-05-31
DOID:0070521	peeling skin syndrome 2	skos:exactMatch	MIM:609796	Peeling skin syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0070522	peeling skin syndrome 3	skos:exactMatch	MIM:616265	Peeling skin syndrome 3	semapv:ManualMappingCuration	2017-03-29
DOID:0070523	peeling skin syndrome 4	skos:exactMatch	MIM:607936	Peeling skin syndrome 4	semapv:ManualMappingCuration	2017-10-03
DOID:0070524	peeling skin syndrome 5	skos:exactMatch	MIM:617115	Peeling skin syndrome 5	semapv:ManualMappingCuration	2017-03-29
DOID:0070525	peeling skin syndrome 6	skos:exactMatch	MIM:618084	Peeling skin syndrome 6	semapv:ManualMappingCuration	2018-09-13
DOID:0070526	PLACK syndrome	skos:exactMatch	MIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	semapv:ManualMappingCuration	2015-06-18
DOID:0070529	Sifrim-Hitz-Weiss syndrome	skos:exactMatch	MIM:617159	Sifrim-Hitz-Weiss syndrome	semapv:ManualMappingCuration	2017-04-06
DOID:0070530	foveal hypoplasia 1	skos:exactMatch	MIM:136520	Foveal hypoplasia 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070531	foveal hypoplasia 2	skos:exactMatch	MIM:609218	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis	semapv:ManualMappingCuration	2017-10-03
DOID:0070532	aniridia 1	skos:exactMatch	MIM:106210	Aniridia	semapv:ManualMappingCuration	2016-09-06
DOID:0070533	long QT syndrome 16	skos:exactMatch	MIM:618782	Long QT syndrome 16	semapv:ManualMappingCuration	2020-02-20
DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	skos:exactMatch	MIM:620029	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	semapv:ManualMappingCuration	2022-12-13
DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly	skos:exactMatch	MIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	semapv:ManualMappingCuration	2017-04-18
DOID:0070538	syndromic X-linked intellectual developmental disorder Bain type	skos:exactMatch	MIM:300986	Intellectual developmental disorder, X-linked syndromic, Bain type	semapv:ManualMappingCuration	2016-11-10
DOID:0070539	Halperin-Birk syndrome	skos:exactMatch	MIM:618651	?Halperin-Birk syndrome	semapv:ManualMappingCuration	2020-01-16
DOID:0070540	mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	skos:exactMatch	MIM:616277	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	semapv:ManualMappingCuration	2017-05-10
DOID:0070541	3-hydroxy-3-methylglutaryl-CoA lyase deficiency	skos:exactMatch	MIM:246450	HMG-CoA lyase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0070542	neurodevelopmental disorder with spastic paraplegia and microcephaly	skos:exactMatch	MIM:616281	Neurodevelopmental disorder with microcephaly and spastic paraplegia	semapv:ManualMappingCuration	2017-05-08
DOID:0070543	neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	skos:exactMatch	MIM:619121	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities	semapv:ManualMappingCuration	2021-01-18
DOID:0070544	congenital glutamine deficiency	skos:exactMatch	MIM:610015	Glutamine deficiency, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:0070545	developmental and epileptic encephalopathy 116	skos:exactMatch	MIM:620806	Developmental and epileptic encephalopathy 116	semapv:ManualMappingCuration	2024-05-14
DOID:0070546	primary pigmented nodular adrenocortical disease 1	skos:exactMatch	MIM:610489	Pigmented nodular adrenocortical disease, primary, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070547	primary pigmented nodular adrenocortical disease 2	skos:exactMatch	MIM:610475	Pigmented nodular adrenocortical disease, primary, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0070548	primary pigmented nodular adrenocortical disease 3	skos:exactMatch	MIM:614190	Pigmented nodular adrenocortical disease, primary, 3	semapv:ManualMappingCuration	2014-09-09
DOID:0070549	primary pigmented nodular adrenocortical disease 4	skos:exactMatch	MIM:615830	Cushing syndrome, ACTH-independent adrenal, somatic	semapv:ManualMappingCuration	2015-03-03
DOID:0070550	KRT1-related nonepidermolytic palmoplantar keratoderma	skos:exactMatch	MIM:600962	Palmoplantar keratoderma, nonepidermolytic	semapv:ManualMappingCuration	2024-06-28
DOID:0070551	epidermolytic palmoplantar keratoderma 2	skos:exactMatch	MIM:620411	Palmoplantar keratoderma, epidermolytic, 2	semapv:ManualMappingCuration	2023-06-13
DOID:0070552	epidermolytic palmoplantar keratoderma 1	skos:exactMatch	MIM:144200	Palmoplantar keratoderma, epidermolytic, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070553	focal palmoplantar and gingival keratosis	skos:exactMatch	MIM:148730	KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL	semapv:ManualMappingCuration	
DOID:0070554	palmoplantar keratoderma and woolly hair	skos:exactMatch	MIM:616099	Palmoplantar keratoderma and woolly hair	semapv:ManualMappingCuration	2017-03-29
DOID:0070555	Nagashima-type palmoplantar keratosis	skos:exactMatch	MIM:615598	Palmoplantar keratoderma, Nagashima type	semapv:ManualMappingCuration	2014-09-09
DOID:0070556	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	skos:exactMatch	MIM:224050	Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0070557	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2	skos:exactMatch	MIM:610185	Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0070558	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3	skos:exactMatch	MIM:613227	Spinocerebellar ataxia, autosomal recessive 34	semapv:ManualMappingCuration	2017-10-03
DOID:0070559	cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4	skos:exactMatch	MIM:615268	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4	semapv:ManualMappingCuration	2014-09-09
DOID:0070560	glucose transporter type 1 deficiency syndrome	skos:exactMatch	MIM:PS606777	GLUT1 deficiency syndrome 1, infantile onset, severe	semapv:ManualMappingCuration	2019-03-27
DOID:0070561	glucose transporter type 1 deficiency syndrome 1	skos:exactMatch	MIM:606777	GLUT1 deficiency syndrome 1, infantile onset, severe	semapv:ManualMappingCuration	2017-10-03
DOID:0070562	Fanconi-Bickel syndrome	skos:exactMatch	MIM:227810	Fanconi-Bickel syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0070563	glucose-galactose malabsorption	skos:exactMatch	MIM:606824	Glucose/galactose malabsorption	semapv:ManualMappingCuration	2017-10-03
DOID:0070565	spermatogenic failure 66	skos:exactMatch	MIM:619799	?Spermatogenic failure 66	semapv:ManualMappingCuration	2022-03-24
DOID:0070566	spermatogenic failure 67	skos:exactMatch	MIM:619803	?Spermatogenic failure 67	semapv:ManualMappingCuration	2022-03-24
DOID:0070567	spermatogenic failure 68	skos:exactMatch	MIM:619805	?Spermatogenic failure 68	semapv:ManualMappingCuration	2022-03-24
DOID:0070568	spermatogenic failure 69	skos:exactMatch	MIM:619826	Spermatogenic failure 69	semapv:ManualMappingCuration	2022-04-11
DOID:0070569	spermatogenic failure 70	skos:exactMatch	MIM:619828	Spermatogenic failure 70	semapv:ManualMappingCuration	2022-04-11
DOID:0070570	spermatogenic failure 71	skos:exactMatch	MIM:619831	Spermatogenic failure 71	semapv:ManualMappingCuration	2022-04-11
DOID:0070571	spermatogenic failure 72	skos:exactMatch	MIM:619867	?Spermatogenic failure 72	semapv:ManualMappingCuration	2022-05-03
DOID:0070572	spermatogenic failure 73	skos:exactMatch	MIM:619878	?Spermatogenic failure 73	semapv:ManualMappingCuration	2022-05-12
DOID:0070573	spermatogenic failure 74	skos:exactMatch	MIM:619937	Spermatogenic failure 74	semapv:ManualMappingCuration	2022-06-30
DOID:0070574	spermatogenic failure 75	skos:exactMatch	MIM:619949	Spermatogenic failure 75	semapv:ManualMappingCuration	2022-11-08
DOID:0070575	spermatogenic failure 76	skos:exactMatch	MIM:620084	Spermatogenic failure 76	semapv:ManualMappingCuration	2022-10-18
DOID:0070576	spermatogenic failure 77	skos:exactMatch	MIM:620103	Spermatogenic failure 77	semapv:ManualMappingCuration	2022-10-27
DOID:0070577	spermatogenic failure 78	skos:exactMatch	MIM:620170	Spermatogenic failure 78	semapv:ManualMappingCuration	2022-12-19
DOID:0070578	spermatogenic failure 79	skos:exactMatch	MIM:620196	Spermatogenic failure 79	semapv:ManualMappingCuration	2023-01-10
DOID:0070579	spermatogenic failure 80	skos:exactMatch	MIM:620222	Spermatogenic failure 80	semapv:ManualMappingCuration	2023-01-30
DOID:0070580	spermatogenic failure 81	skos:exactMatch	MIM:620277	Spermatogenic failure 81	semapv:ManualMappingCuration	2023-03-08
DOID:0070581	spermatogenic failure 82	skos:exactMatch	MIM:620353	Spermatogenic failure 82	semapv:ManualMappingCuration	2023-04-28
DOID:0070582	spermatogenic failure 83	skos:exactMatch	MIM:620354	Spermatogenic failure 83	semapv:ManualMappingCuration	2023-04-28
DOID:0070583	spermatogenic failure 84	skos:exactMatch	MIM:620409	Spermatogenic failure 84	semapv:ManualMappingCuration	2023-06-06
DOID:0070584	spermatogenic failure 85	skos:exactMatch	MIM:620490	?Spermatogenic failure 85	semapv:ManualMappingCuration	2023-09-01
DOID:0070585	spermatogenic failure 86	skos:exactMatch	MIM:620499	Spermatogenic failure 86	semapv:ManualMappingCuration	2023-09-01
DOID:0070586	spermatogenic failure 87	skos:exactMatch	MIM:620500	?Spermatogenic failure 87	semapv:ManualMappingCuration	2023-09-01
DOID:0070587	spermatogenic failure 88	skos:exactMatch	MIM:620547	Spermatogenic failure 88	semapv:ManualMappingCuration	2023-10-24
DOID:0070588	spermatogenic failure 89	skos:exactMatch	MIM:620705	Spermatogenic failure 89	semapv:ManualMappingCuration	2024-02-12
DOID:0070589	spermatogenic failure 90	skos:exactMatch	MIM:620744	Spermatogenic failure 90	semapv:ManualMappingCuration	2024-03-18
DOID:0070590	spermatogenic failure 91	skos:exactMatch	MIM:620838	Spermatogenic failure 91	semapv:ManualMappingCuration	2024-06-17
DOID:0070591	spermatogenic failure 92	skos:exactMatch	MIM:620848	Spermatogenic failure 92	semapv:ManualMappingCuration	2024-07-02
DOID:0070592	spermatogenic failure 93	skos:exactMatch	MIM:620849	?Spermatogenic failure 93	semapv:ManualMappingCuration	2024-07-02
DOID:0070593	spermatogenic failure 94	skos:exactMatch	MIM:620850	Spermatogenic failure 94	semapv:ManualMappingCuration	2024-07-08
DOID:0070594	spermatogenic failure 95	skos:exactMatch	MIM:620917	Spermatogenic failure 95	semapv:ManualMappingCuration	2024-08-19
DOID:0070595	X-linked spermatogenic failure 4	skos:exactMatch	MIM:301077	Spermatogenic failure, X-linked, 4	semapv:ManualMappingCuration	2022-04-12
DOID:0070596	X-linked spermatogenic failure 5	skos:exactMatch	MIM:301099	Spermatogenic failure, X-linked, 5	semapv:ManualMappingCuration	2023-03-17
DOID:0070597	X-linked spermatogenic failure 6	skos:exactMatch	MIM:301101	Spermatogenic failure, X-linked, 6	semapv:ManualMappingCuration	2023-03-17
DOID:0070598	X-linked spermatogenic failure 7	skos:exactMatch	MIM:301106	?Spermatogenic failure, X-linked, 7	semapv:ManualMappingCuration	2023-04-28
DOID:0070599	X-linked spermatogenic failure 8	skos:exactMatch	MIM:301119	{Spermatogenic failure, X-linked, 8, susceptibility to}	semapv:ManualMappingCuration	2024-06-17
DOID:0070600	intellectual disability and myopathy syndrome	skos:exactMatch	MIM:619719	Intellectual disability and myopathy syndrome	semapv:ManualMappingCuration	2022-03-18
DOID:0070601	autosomal dominant nonsyndromic deafness 37	skos:exactMatch	MIM:618533	Deafness, autosomal dominant 37	semapv:ManualMappingCuration	2019-09-03
DOID:0070602	autosomal dominant nonsyndromic deafness 80	skos:exactMatch	MIM:619274	Deafness, autosomal dominant 80	semapv:ManualMappingCuration	2021-04-15
DOID:0070603	autosomal dominant nonsyndromic deafness 82	skos:exactMatch	MIM:619804	Deafness, autosomal dominant 82	semapv:ManualMappingCuration	2022-03-25
DOID:0070604	autosomal dominant nonsyndromic deafness 84	skos:exactMatch	MIM:619810	Deafness, autosomal dominant 84	semapv:ManualMappingCuration	2022-06-13
DOID:0070605	autosomal dominant nonsyndromic deafness 85	skos:exactMatch	MIM:620227	Deafness, autosomal dominant 85	semapv:ManualMappingCuration	2023-01-30
DOID:0070606	autosomal dominant nonsyndromic deafness 87	skos:exactMatch	MIM:620281	Deafness, autosomal dominant 87	semapv:ManualMappingCuration	2023-03-14
DOID:0070607	autosomal dominant nonsyndromic deafness 90	skos:exactMatch	MIM:620722	Deafness, autosomal dominant 90	semapv:ManualMappingCuration	2024-02-19
DOID:0070608	autosomal dominant nonsyndromic deafness 81	skos:exactMatch	MIM:619500	?Deafness, autosomal dominant 81	semapv:ManualMappingCuration	2021-08-26
DOID:0070609	autosomal dominant nonsyndromic deafness 83	skos:exactMatch	MIM:619808	?Deafness, autosomal dominant 83	semapv:ManualMappingCuration	2022-04-11
DOID:0070610	autosomal dominant nonsyndromic deafness 86	skos:exactMatch	MIM:620280	?Deafness, autosomal dominant 86	semapv:ManualMappingCuration	2023-03-14
DOID:0070611	autosomal dominant nonsyndromic deafness 88	skos:exactMatch	MIM:620283	?Deafness, autosomal dominant 88	semapv:ManualMappingCuration	2023-03-14
DOID:0070612	autosomal dominant nonsyndromic deafness 89	skos:exactMatch	MIM:620284	?Deafness, autosomal dominant 89	semapv:ManualMappingCuration	2023-03-14
DOID:0070613	familial renal glucosuria	skos:exactMatch	MIM:233100	Renal glucosuria	semapv:ManualMappingCuration	2017-10-03
DOID:0070615	autoinflammation, antibody deficiency, and immune dysregulation syndrome	skos:exactMatch	MIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation syndrome	semapv:ManualMappingCuration	2014-09-02
DOID:0070616	glycine encephalopathy 1	skos:exactMatch	MIM:605899	Glycine encephalopathy1	semapv:ManualMappingCuration	2017-10-03
DOID:0070617	rhabdoid tumor predisposition syndrome	skos:exactMatch	MIM:PS609322	{Rhabdoid tumor predisposition syndrome 1}	semapv:ManualMappingCuration	2024-11-01
DOID:0070618	rhabdoid tumor predisposition syndrome 1	skos:exactMatch	MIM:609322	{Rhabdoid tumor predisposition syndrome 1}	semapv:ManualMappingCuration	2024-11-01
DOID:0070619	mitochondrial trifunctional protein deficiency 1	skos:exactMatch	MIM:609015	Mitochondrial trifunctional protein deficiency 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080019	metaphyseal dysplasia	skos:exactMatch	MIM:265900	Pyle disease	semapv:ManualMappingCuration	2017-10-10
DOID:0080020	Jansen's metaphyseal chondrodysplasia	skos:exactMatch	MIM:156400	Metaphyseal chondrodysplasia, Murk Jansen type	semapv:ManualMappingCuration	2017-10-03
DOID:0080021	Schmid metaphyseal chondrodysplasia	skos:exactMatch	MIM:156500	Metaphyseal chondrodysplasia, Schmid type	semapv:ManualMappingCuration	2017-10-03
DOID:0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive	skos:exactMatch	MIM:215150	Otospondylomegaepiphyseal dysplasia, autosomal recessive	semapv:ManualMappingCuration	2014-06-23
DOID:0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive	skos:exactMatch	MIM:249230	MEGAEPIPHYSEAL DWARFISM	semapv:ManualMappingCuration	2020-09-25
DOID:0080026	otospondylomegaepiphyseal dysplasia, autosomal recessive	skos:exactMatch	MIM:PS184840	Otospondylomegaepiphyseal dysplasia, autosomal dominant	semapv:ManualMappingCuration	2019-03-28
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	skos:exactMatch	MIM:184250	SMED Strudwick type	semapv:ManualMappingCuration	2017-10-03
DOID:0080029	autosomal recessive spinocerebellar ataxia 16	skos:exactMatch	MIM:615768	Spinocerebellar ataxia, autosomal recessive 16	semapv:ManualMappingCuration	2014-10-16
DOID:0080030	spondyloepimetaphyseal dysplasia, Missouri type	skos:exactMatch	MIM:602111	Metaphyseal anadysplasia 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080032	craniodiaphyseal dysplasia	skos:exactMatch	MIM:218300	CRANIODIAPHYSEAL DYSPLASIA	semapv:ManualMappingCuration	2018-05-22
DOID:0080033	craniometaphyseal dysplasia	skos:exactMatch	MIM:PS123000	Craniometaphyseal dysplasia	semapv:ManualMappingCuration	2017-11-10
DOID:0080036	SOST-related sclerosing bone dysplasia	skos:exactMatch	MIM:239100	van Buchem disease	semapv:ManualMappingCuration	2018-07-31
DOID:0080037	Worth syndrome	skos:exactMatch	MIM:144750	Endosteal hyperostosis	semapv:ManualMappingCuration	2017-10-03
DOID:0080038	pycnodysostosis	skos:exactMatch	MIM:265800	Pycnodysostosis	semapv:ManualMappingCuration	2017-10-03
DOID:0080039	axial osteomalacia	skos:exactMatch	MIM:109130	AXIAL OSTEOMALACIA	semapv:ManualMappingCuration	2018-05-22
DOID:0080041	hypochondroplasia	skos:exactMatch	MIM:146000	Hypochondroplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0080042	autosomal recessive spinocerebellar ataxia 18	skos:exactMatch	MIM:616204	Spinocerebellar ataxia, autosomal recessive 18	semapv:ManualMappingCuration	2017-04-19
DOID:0080043	achondrogenesis	skos:exactMatch	MIM:PS200600	Achondrogenesis, type IA	semapv:ManualMappingCuration	2019-03-20
DOID:0080045	Kniest dysplasia	skos:exactMatch	MIM:156550	Kniest dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0080046	Stickler syndrome	skos:exactMatch	MIM:PS108300	Stickler syndrome, type I	semapv:ManualMappingCuration	2019-03-19
DOID:0080047	pseudoachondroplasia	skos:exactMatch	MIM:177170	Pseudoachondroplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0080049	acromesomelic dysplasia	skos:exactMatch	MIM:PS602875	Acromesomelic dysplasia 1, Maroteaux type	semapv:ManualMappingCuration	2017-10-03
DOID:0080050	acromesomelic dysplasia, Maroteaux type	skos:exactMatch	MIM:602875	Acromesomelic dysplasia 1, Maroteaux type	semapv:ManualMappingCuration	2017-10-03
DOID:0080051	acromesomelic dysplasia, Hunter-Thompson type	skos:exactMatch	MIM:201250	?Acromesomelic dysplasia 2C, Hunter-Thompson type	semapv:ManualMappingCuration	2014-06-23
DOID:0080052	acromesomelic dysplasia, Grebe type	skos:exactMatch	MIM:200700	Acromesomelic dysplasia 2A	semapv:ManualMappingCuration	2017-10-03
DOID:0080053	Albright's hereditary osteodystrophy	skos:exactMatch	MIM:103580	Pseudohypoparathyroidism Ia	semapv:ManualMappingCuration	2014-06-23
DOID:0080054	achondrogenesis type IA	skos:exactMatch	MIM:200600	Achondrogenesis, type IA	semapv:ManualMappingCuration	2017-10-03
DOID:0080055	achondrogenesis type IB	skos:exactMatch	MIM:600972	Achondrogenesis Ib	semapv:ManualMappingCuration	2017-10-03
DOID:0080056	achondrogenesis type II	skos:exactMatch	MIM:200610	Achondrogenesis, type II or hypochondrogenesis	semapv:ManualMappingCuration	2017-10-03
DOID:0080057	autosomal recessive spinocerebellar ataxia 15	skos:exactMatch	MIM:615705	Spinocerebellar ataxia, autosomal recessive 15	semapv:ManualMappingCuration	2014-09-09
DOID:0080058	autosomal recessive spinocerebellar ataxia 14	skos:exactMatch	MIM:615386	Spinocerebellar ataxia, autosomal recessive 14	semapv:ManualMappingCuration	2014-09-09
DOID:0080059	autosomal recessive spinocerebellar ataxia 7	skos:exactMatch	MIM:609270	Spinocerebellar ataxia, autosomal recessive 7	semapv:ManualMappingCuration	2017-10-03
DOID:0080060	autosomal recessive spinocerebellar ataxia 12	skos:exactMatch	MIM:614322	Spinocerebellar ataxia, autosomal recessive 12	semapv:ManualMappingCuration	2014-09-02
DOID:0080061	autosomal recessive spinocerebellar ataxia 2	skos:exactMatch	MIM:213200	Spinocerebellar ataxia, autosomal recessive 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080062	autosomal recessive spinocerebellar ataxia 13	skos:exactMatch	MIM:614831	Spinocerebellar ataxia, autosomal recessive 13	semapv:ManualMappingCuration	2014-09-02
DOID:0080063	autosomal recessive spinocerebellar ataxia 11	skos:exactMatch	MIM:614229	?Spinocerebellar ataxia, autosomal recessive 11	semapv:ManualMappingCuration	2014-09-02
DOID:0080064	autosomal recessive spinocerebellar ataxia 17	skos:exactMatch	MIM:616127	Spinocerebellar ataxia, autosomal recessive 17	semapv:ManualMappingCuration	2015-02-17
DOID:0080065	autosomal recessive spinocerebellar ataxia 19	skos:exactMatch	MIM:616291	Lichtenstein-Knorr syndrome	semapv:ManualMappingCuration	2017-05-02
DOID:0080066	autosomal recessive spinocerebellar ataxia 20	skos:exactMatch	MIM:616354	Spinocerebellar ataxia, autosomal recessive 20	semapv:ManualMappingCuration	2017-03-14
DOID:0080067	Charcot-Marie-Tooth disease type 5	skos:exactMatch	MIM:600361	Hereditary motor and sensory neuropathy V	semapv:ManualMappingCuration	2018-04-23
DOID:0080070	mucolipidosis II alpha/beta	skos:exactMatch	MIM:252500	Mucolipidosis II alpha/beta	semapv:ManualMappingCuration	2014-06-23
DOID:0080071	mucolipidosis III alpha/beta	skos:exactMatch	MIM:252600	Mucolipidosis III alpha/beta	semapv:ManualMappingCuration	2014-06-23
DOID:0080074	neural tube defect	skos:exactMatch	MIM:182940	Neural tube defects	semapv:ManualMappingCuration	2017-10-03
DOID:0080074	neural tube defect	skos:exactMatch	MIM:222500	DIASTEMATOMYELIA	semapv:ManualMappingCuration	2021-01-20
DOID:0080075	Neu-Laxova syndrome 2	skos:exactMatch	MIM:616038	Neu-Laxova syndrome 2	semapv:ManualMappingCuration	2017-10-25
DOID:0080076	Neu-Laxova syndrome 1	skos:exactMatch	MIM:256520	Neu-Laxova syndrome 1	semapv:ManualMappingCuration	2014-10-20
DOID:0080077	hypophosphatemic nephrolithiasis/osteoporosis 1	skos:exactMatch	MIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	semapv:ManualMappingCuration	2014-06-23
DOID:0080078	hypophosphatemic nephrolithiasis/osteoporosis 2	skos:exactMatch	MIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	semapv:ManualMappingCuration	2014-06-23
DOID:0080079	nonsyndromic congenital nail disorder 1	skos:exactMatch	MIM:161050	Nail disorder, nonsyndromic congenital, 1	semapv:ManualMappingCuration	2018-08-21
DOID:0080080	nonsyndromic congenital nail disorder 2	skos:exactMatch	MIM:149300	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 2	semapv:ManualMappingCuration	2018-08-22
DOID:0080081	nonsyndromic congenital nail disorder 3	skos:exactMatch	MIM:151600	Nail disorder, nonsyndromic congenital, 3, (leukonychia)	semapv:ManualMappingCuration	2017-10-10
DOID:0080082	nonsyndromic congenital nail disorder 4	skos:exactMatch	MIM:206800	Anonychia congenita	semapv:ManualMappingCuration	2019-01-21
DOID:0080083	nonsyndromic congenital nail disorder 5	skos:exactMatch	MIM:164800	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 5	semapv:ManualMappingCuration	2018-08-22
DOID:0080084	nonsyndromic congenital nail disorder 6	skos:exactMatch	MIM:107000	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6	semapv:ManualMappingCuration	2018-08-22
DOID:0080085	nonsyndromic congenital nail disorder 7	skos:exactMatch	MIM:605779	Nail disorder, nonsyndromic congenital, 7	semapv:ManualMappingCuration	2017-10-03
DOID:0080086	nonsyndromic congenital nail disorder 8	skos:exactMatch	MIM:607523	Nail disorder, nonsyndromic congenital, 8	semapv:ManualMappingCuration	2017-10-03
DOID:0080087	nonsyndromic congenital nail disorder 9	skos:exactMatch	MIM:614149	Nail disorder, nonsyndromic congenital, 9	semapv:ManualMappingCuration	2014-06-23
DOID:0080089	tubular aggregate myopathy 1	skos:exactMatch	MIM:160565	Myopathy, tubular aggregate, 1	semapv:ManualMappingCuration	2019-01-17
DOID:0080090	reducing body myopathy 1A	skos:exactMatch	MIM:300717	Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset	semapv:ManualMappingCuration	2017-10-03
DOID:0080092	myofibrillar myopathy 1	skos:exactMatch	MIM:601419	Myopathy, myofibrillar, 1	semapv:ManualMappingCuration	2014-06-23
DOID:0080093	myofibrillar myopathy 2	skos:exactMatch	MIM:608810	Myopathy, myofibrillar, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080094	myofibrillar myopathy 3	skos:exactMatch	MIM:609200	Myopathy, myofibrillar, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0080095	myofibrillar myopathy 4	skos:exactMatch	MIM:609452	Myopathy, myofibrillar, 4	semapv:ManualMappingCuration	2014-06-23
DOID:0080096	myofibrillar myopathy 5	skos:exactMatch	MIM:609524	Myopathy, myofibrillar, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0080097	myofibrillar myopathy 6	skos:exactMatch	MIM:612954	Myopathy, myofibrillar, 6	semapv:ManualMappingCuration	2014-06-23
DOID:0080098	myofibrillar myopathy 7	skos:exactMatch	MIM:617114	Myopathy, myofibrillar, 7	semapv:ManualMappingCuration	2016-10-18
DOID:0080099	myopathy, lactic acidosis, and sideroblastic anemia	skos:exactMatch	MIM:PS600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	semapv:ManualMappingCuration	2019-03-19
DOID:0080101	Compton-North congenital myopathy	skos:exactMatch	MIM:612540	Congenital myopathy 12	semapv:ManualMappingCuration	2017-10-03
DOID:0080102	congenital myopathy 4A	skos:exactMatch	MIM:255310	Congenital myopathy 4A, autosomal dominant	semapv:ManualMappingCuration	2017-10-10
DOID:0080103	cylindrical spirals myopathy	skos:exactMatch	MIM:160990	MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS	semapv:ManualMappingCuration	2018-08-22
DOID:0080105	microcephaly and chorioretinopathy 1	skos:exactMatch	MIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	semapv:ManualMappingCuration	2017-10-10
DOID:0080106	microcephaly and chorioretinopathy 2	skos:exactMatch	MIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	semapv:ManualMappingCuration	2017-05-08
DOID:0080107	microcephaly and chorioretinopathy 3	skos:exactMatch	MIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	semapv:ManualMappingCuration	2015-07-16
DOID:0080109	infantile myofibromatosis	skos:exactMatch	MIM:PS228550	Myofibromatosis, infantile, 1	semapv:ManualMappingCuration	2019-03-26
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome	skos:exactMatch	MIM:265000	Escobar syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome	skos:exactMatch	MIM:PS178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	semapv:ManualMappingCuration	2020-03-02
DOID:0080111	mitochondrial complex III deficiency nuclear type 1	skos:exactMatch	MIM:124000	Mitochondrial complex III deficiency, nuclear type 1	semapv:ManualMappingCuration	2014-06-23
DOID:0080112	mitochondrial complex III deficiency nuclear type 3	skos:exactMatch	MIM:615158	Mitochondrial complex III deficiency, nuclear type 3	semapv:ManualMappingCuration	2014-09-02
DOID:0080113	mitochondrial complex III deficiency nuclear type 4	skos:exactMatch	MIM:615159	Mitochondrial complex III deficiency, nuclear type 4	semapv:ManualMappingCuration	2014-09-02
DOID:0080114	mitochondrial complex III deficiency nuclear type 5	skos:exactMatch	MIM:615160	Mitochondrial complex III deficiency, nuclear type 5	semapv:ManualMappingCuration	2014-09-02
DOID:0080115	mitochondrial complex III deficiency nuclear type 6	skos:exactMatch	MIM:615453	Mitochondrial complex III deficiency, nuclear type 6	semapv:ManualMappingCuration	2014-09-09
DOID:0080116	mitochondrial complex III deficiency nuclear type 7	skos:exactMatch	MIM:615824	Mitochondrial complex III deficiency, nuclear type 7	semapv:ManualMappingCuration	2017-05-10
DOID:0080117	mitochondrial complex III deficiency nuclear type 8	skos:exactMatch	MIM:615838	Mitochondrial complex III deficiency, nuclear type 8	semapv:ManualMappingCuration	2014-09-09
DOID:0080118	mitochondrial complex III deficiency nuclear type 9	skos:exactMatch	MIM:616111	?Mitochondrial complex III deficiency, nuclear type 9	semapv:ManualMappingCuration	2017-05-10
DOID:0080119	mitochondrial DNA depletion syndrome 1	skos:exactMatch	MIM:603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	semapv:ManualMappingCuration	2014-06-23
DOID:0080120	mitochondrial DNA depletion syndrome 2	skos:exactMatch	MIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	semapv:ManualMappingCuration	2014-06-23
DOID:0080121	mitochondrial DNA depletion syndrome 3	skos:exactMatch	MIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	semapv:ManualMappingCuration	2014-06-23
DOID:0080122	Alpers-Huttenlocher syndrome	skos:exactMatch	MIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	semapv:ManualMappingCuration	2018-12-17
DOID:0080123	mitochondrial DNA depletion syndrome 4B	skos:exactMatch	MIM:613662	Mitochondrial DNA depletion syndrome 4B (MNGIE type)	semapv:ManualMappingCuration	2014-06-23
DOID:0080124	mitochondrial DNA depletion syndrome 5	skos:exactMatch	MIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	semapv:ManualMappingCuration	2014-06-23
DOID:0080125	mitochondrial DNA depletion syndrome 6	skos:exactMatch	MIM:256810	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	semapv:ManualMappingCuration	2017-10-10
DOID:0080126	mitochondrial DNA depletion syndrome 7	skos:exactMatch	MIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	semapv:ManualMappingCuration	2014-06-23
DOID:0080127	mitochondrial DNA depletion syndrome 8A	skos:exactMatch	MIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	semapv:ManualMappingCuration	2019-05-13
DOID:0080128	mitochondrial DNA depletion syndrome 9	skos:exactMatch	MIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	semapv:ManualMappingCuration	2014-06-23
DOID:0080129	mitochondrial DNA depletion syndrome 11	skos:exactMatch	MIM:615084	Mitochondrial DNA depletion syndrome 11	semapv:ManualMappingCuration	2014-09-09
DOID:0080130	mitochondrial DNA depletion syndrome 12a	skos:exactMatch	MIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD	semapv:ManualMappingCuration	2017-06-19
DOID:0080131	mitochondrial DNA depletion syndrome 13	skos:exactMatch	MIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	semapv:ManualMappingCuration	2014-09-09
DOID:0080132	Sengers syndrome	skos:exactMatch	MIM:212350	Sengers syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0080133	multiple mitochondrial dysfunctions syndrome 1	skos:exactMatch	MIM:605711	Multiple mitochondrial dysfunctions syndrome 1	semapv:ManualMappingCuration	2018-01-24
DOID:0080134	multiple mitochondrial dysfunctions syndrome 2	skos:exactMatch	MIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	semapv:ManualMappingCuration	2014-09-02
DOID:0080135	multiple mitochondrial dysfunctions syndrome 3	skos:exactMatch	MIM:615330	Multiple mitochondrial dysfunctions syndrome 3	semapv:ManualMappingCuration	2014-09-09
DOID:0080136	multiple mitochondrial dysfunctions syndrome 4	skos:exactMatch	MIM:616370	Multiple mitochondrial dysfunctions syndrome 4	semapv:ManualMappingCuration	2017-03-13
DOID:0080137	multiple endocrine neoplasia type 4	skos:exactMatch	MIM:610755	Multiple endocrine neoplasia, type IV	semapv:ManualMappingCuration	2017-10-03
DOID:0080138	multiple congenital anomalies-hypotonia-seizures syndrome 1	skos:exactMatch	MIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	semapv:ManualMappingCuration	2014-09-09
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2	skos:exactMatch	MIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3	skos:exactMatch	MIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	semapv:ManualMappingCuration	2014-09-09
DOID:0080141	mosaic variegated aneuploidy syndrome 1	skos:exactMatch	MIM:257300	Mosaic variegated aneuploidy syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080142	mosaic variegated aneuploidy syndrome 2	skos:exactMatch	MIM:614114	Mosaic variegated aneuploidy syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:0080143	congenital fibrosis of the extraocular muscles	skos:exactMatch	MIM:PS135700	Fibrosis of extraocular muscles, congenital, 1	semapv:ManualMappingCuration	2019-03-15
DOID:0080150	adrenocorticotropic hormone deficiency	skos:exactMatch	MIM:201400	Adrenocorticotropic hormone deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0080153	medium chain acyl-CoA dehydrogenase deficiency	skos:exactMatch	MIM:201450	Acyl-CoA dehydrogenase, medium chain, deficiency of	semapv:ManualMappingCuration	2017-10-03
DOID:0080154	short chain acyl-CoA dehydrogenase deficiency	skos:exactMatch	MIM:201470	Acyl-CoA dehydrogenase, short-chain, deficiency of	semapv:ManualMappingCuration	2017-10-03
DOID:0080155	very long chain acyl-CoA dehydrogenase deficiency	skos:exactMatch	MIM:201475	VLCAD deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0080156	X-linked adrenal hypoplasia congenita	skos:exactMatch	MIM:300200	Adrenal hypoplasia, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:0080162	lupus nephritis	skos:exactMatch	MIM:607965	{Systemic lupus erythematosus with nephritis, susceptibility to, 1}	semapv:ManualMappingCuration	2014-06-23
DOID:0080162	lupus nephritis	skos:exactMatch	MIM:607966	{Systemic lupus erythematosus with nephritis, susceptibility to, 2}	semapv:ManualMappingCuration	2014-06-23
DOID:0080162	lupus nephritis	skos:exactMatch	MIM:607967	{Systemic lupus erythematosus with nephritis, susceptibility to, 3}	semapv:ManualMappingCuration	2014-06-23
DOID:0080163	otulipenia	skos:exactMatch	MIM:617099	Autoinflammation, panniculitis, and dermatosis syndrome	semapv:ManualMappingCuration	2017-02-15
DOID:0080169	tricuspid atresia	skos:exactMatch	MIM:605067	TRICUSPID ATRESIA	semapv:ManualMappingCuration	2017-10-03
DOID:0080170	normophosphatemic familial tumoral calcinosis	skos:exactMatch	MIM:610455	Tumoral calcinosis, familial, normophosphatemic	semapv:ManualMappingCuration	2017-10-03
DOID:0080171	esophageal atresia/tracheoesophageal fistula	skos:exactMatch	MIM:189960	TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA	semapv:ManualMappingCuration	2017-10-03
DOID:0080172	poor metabolism of thiopurines	skos:exactMatch	MIM:PS610460	{Thiopurines, poor metabolism of, 1}	semapv:ManualMappingCuration	2019-03-27
DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex	skos:exactMatch	MIM:258040	OEIS COMPLEX	semapv:ManualMappingCuration	2018-04-26
DOID:0080174	bladder exstrophy	skos:exactMatch	MIM:600057	BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	semapv:ManualMappingCuration	2018-08-21
DOID:0080181	PHARC syndrome	skos:exactMatch	MIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	semapv:ManualMappingCuration	2017-10-03
DOID:0080194	Carey-Fineman-Ziter syndrome	skos:exactMatch	MIM:PS254940	Carey-Fineman-Ziter syndrome	semapv:ManualMappingCuration	2022-07-01
DOID:0080196	mandibulofacial dysostosis, Guion-Almeida type	skos:exactMatch	MIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	semapv:ManualMappingCuration	2014-10-20
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	skos:exactMatch	MIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	semapv:ManualMappingCuration	2017-06-19
DOID:0080198	infantile histiocytoid cardiomyopathy	skos:exactMatch	MIM:500000	CARDIOMYOPATHY, INFANTILE HISTIOCYTOID	semapv:ManualMappingCuration	2018-08-21
DOID:0080201	Peters plus syndrome	skos:exactMatch	MIM:261540	Peters-plus syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0080205	CAKUT	skos:exactMatch	MIM:PS610805	Congenital anomalies of kidney and urinary tract 1	semapv:ManualMappingCuration	2018-04-13
DOID:0080206	CAKUT1	skos:exactMatch	MIM:610805	Congenital anomalies of kidney and urinary tract 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080207	CAKUT2	skos:exactMatch	MIM:143400	Congenital anomalies of kidney and urinary tract 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080208	metabolic dysfunction-associated steatotic liver disease	skos:exactMatch	MIM:613282	{Fatty liver disease, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:0080208	metabolic dysfunction-associated steatotic liver disease	skos:exactMatch	MIM:613387	{Fatty liver disease, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:0080209	sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	skos:exactMatch	MIM:616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	semapv:ManualMappingCuration	2017-04-06
DOID:0080212	polycystic kidney disease 4	skos:exactMatch	MIM:263200	Polycystic kidney disease 4, with or without hepatic disease	semapv:ManualMappingCuration	2018-05-22
DOID:0080213	punctate palmoplantar keratoderma type II	skos:exactMatch	MIM:175860	PALMOPLANTAR KERATODERMA, PUNCTATE TYPE II	semapv:ManualMappingCuration	2018-05-22
DOID:0080214	punctate palmoplantar keratoderma type I	skos:exactMatch	MIM:148600	Keratoderma, palmoplantar, punctate type IA	semapv:ManualMappingCuration	2017-10-03
DOID:0080214	punctate palmoplantar keratoderma type I	skos:exactMatch	MIM:614936	Keratoderma, palmoplantar, punctate type IB	semapv:ManualMappingCuration	2020-06-18
DOID:0080215	developmental and epileptic encephalopathy 8	skos:exactMatch	MIM:300607	Developmental and epileptic encephalopathy 8	semapv:ManualMappingCuration	2017-10-03
DOID:0080216	duodenal atresia	skos:exactMatch	MIM:223400	DUODENAL ATRESIA	semapv:ManualMappingCuration	2018-05-22
DOID:0080217	lysosomal acid lipase deficiency	skos:exactMatch	MIM:PS278000	Cholesteryl ester storage disease	semapv:ManualMappingCuration	2017-10-03
DOID:0080218	primary spontaneous pneumothorax	skos:exactMatch	MIM:173600	Pneumothorax, primary spontaneous	semapv:ManualMappingCuration	2018-05-22
DOID:0080219	dystransthyretinemic hyperthyroxinemia	skos:exactMatch	MIM:145680	[Dystransthyretinemic hyperthyroxinemia]	semapv:ManualMappingCuration	2017-10-03
DOID:0080222	pseudohypoparathyroidism type IB	skos:exactMatch	MIM:603233	Pseudohypoparathyroidism Ib	semapv:ManualMappingCuration	2017-05-30
DOID:0080223	epidermolytic palmoplantar keratoderma	skos:exactMatch	MIM:PS144200	Palmoplantar keratoderma, epidermolytic, 1	semapv:ManualMappingCuration	2024-07-01
DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa	skos:exactMatch	MIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0080225	amyotrophic lateral sclerosis type 23	skos:exactMatch	MIM:617839	Amyotrophic lateral sclerosis 23	semapv:ManualMappingCuration	2018-03-12
DOID:0080226	autosomal dominant intellectual developmental disorder 56	skos:exactMatch	MIM:617854	Intellectual developmental disorder, autosomal dominant 56	semapv:ManualMappingCuration	2018-03-12
DOID:0080227	autosomal dominant intellectual developmental disorder 55	skos:exactMatch	MIM:617831	Intellectual developmental disorder, autosomal dominant 55, with seizures	semapv:ManualMappingCuration	2018-05-22
DOID:0080228	autosomal dominant intellectual developmental disorder 53	skos:exactMatch	MIM:617798	Intellectual developmental disorder, autosomal dominant 53	semapv:ManualMappingCuration	2018-01-17
DOID:0080230	autosomal dominant intellectual developmental disorder 54	skos:exactMatch	MIM:617799	Intellectual developmental disorder, autosomal dominant 54	semapv:ManualMappingCuration	2018-01-17
DOID:0080231	autosomal dominant intellectual developmental disorder 52	skos:exactMatch	MIM:617796	Intellectual developmental disorder, autosomal dominant 52	semapv:ManualMappingCuration	2018-01-17
DOID:0080232	autosomal dominant intellectual developmental disorder 51	skos:exactMatch	MIM:617788	Intellectual developmental disorder, autosomal dominant 51	semapv:ManualMappingCuration	2018-01-17
DOID:0080233	autosomal dominant intellectual developmental disorder 50	skos:exactMatch	MIM:617787	Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities	semapv:ManualMappingCuration	2018-01-17
DOID:0080234	Clark-Baraitser syndrome	skos:exactMatch	MIM:617752	Intellectual developmental disorder, autosomal dominant 49	semapv:ManualMappingCuration	2018-01-17
DOID:0080235	autosomal dominant intellectual developmental disorder 48	skos:exactMatch	MIM:617751	Intellectual developmental disorder, autosomal dominant 48	semapv:ManualMappingCuration	2018-01-17
DOID:0080236	autosomal dominant intellectual developmental disorder 45	skos:exactMatch	MIM:617600	Intellectual developmental disorder, autosomal dominant 45	semapv:ManualMappingCuration	2017-12-06
DOID:0080237	autosomal dominant intellectual developmental disorder 46	skos:exactMatch	MIM:617601	Intellectual developmental disorder, autosomal dominant 46	semapv:ManualMappingCuration	2017-12-06
DOID:0080238	autosomal dominant intellectual developmental disorder 47	skos:exactMatch	MIM:617635	Intellectual developmental disorder, autosomal dominant 47	semapv:ManualMappingCuration	2017-12-06
DOID:0080239	autosomal recessive intellectual developmental disorder 61	skos:exactMatch	MIM:617773	Intellectual developmental disorder, autosomal recessive 61	semapv:ManualMappingCuration	2018-05-29
DOID:0080240	non-syndromic X-linked intellectual disability 106	skos:exactMatch	MIM:300997	Intellectual developmental disorder, X-linked 106	semapv:ManualMappingCuration	2017-07-11
DOID:0080241	syndromic X-linked intellectual disability 35	skos:exactMatch	MIM:300998	Intellectual developmental disorder, X-linked syndromic 35	semapv:ManualMappingCuration	2017-08-08
DOID:0080242	syndromic X-linked mental retardation Hough type	skos:exactMatch	MIM:301008	Intellectual developmental disorder, X-linked syndromic, Houge type	semapv:ManualMappingCuration	2018-01-17
DOID:0080243	amelogenesis imperfecta type 3B	skos:exactMatch	MIM:617607	?Amelogenesis imperfecta, type IIIB	semapv:ManualMappingCuration	2018-05-22
DOID:0080244	Galloway-Mowat syndrome 2	skos:exactMatch	MIM:301006	Galloway-Mowat syndrome 2, X-linked	semapv:ManualMappingCuration	2017-12-04
DOID:0080245	Galloway-Mowat syndrome 3	skos:exactMatch	MIM:617729	Galloway-Mowat syndrome 3	semapv:ManualMappingCuration	2017-12-04
DOID:0080246	Galloway-Mowat syndrome 4	skos:exactMatch	MIM:617730	Galloway-Mowat syndrome 4	semapv:ManualMappingCuration	2017-12-04
DOID:0080247	Galloway-Mowat syndrome 5	skos:exactMatch	MIM:617731	Galloway-Mowat syndrome 5	semapv:ManualMappingCuration	2017-12-04
DOID:0080248	erythrokeratodermia variabilis et progressiva 2	skos:exactMatch	MIM:617524	Erythrokeratodermia variabilis et progressiva 2	semapv:ManualMappingCuration	2018-05-22
DOID:0080249	erythrokeratodermia variabilis et progressiva 3	skos:exactMatch	MIM:617525	Erythrokeratodermia variabilis et progressiva 3	semapv:ManualMappingCuration	2018-05-22
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	skos:exactMatch	MIM:617526	Erythrokeratodermia variabilis et progressiva 4	semapv:ManualMappingCuration	2017-07-11
DOID:0080251	erythrokeratodermia variabilis et progressiva 5	skos:exactMatch	MIM:617756	Erythrokeratodermia variabilis et progressiva 5	semapv:ManualMappingCuration	2018-01-15
DOID:0080252	spastic ataxia 8	skos:exactMatch	MIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	semapv:ManualMappingCuration	2017-08-08
DOID:0080253	Meckel syndrome 13	skos:exactMatch	MIM:617562	Meckel syndrome 13	semapv:ManualMappingCuration	2017-08-08
DOID:0080254	orofaciodigital syndrome XVI	skos:exactMatch	MIM:617563	Orofaciodigital syndrome XVI	semapv:ManualMappingCuration	2017-12-06
DOID:0080255	Meier-Gorlin syndrome 8	skos:exactMatch	MIM:617564	?Meier-Gorlin syndrome 8	semapv:ManualMappingCuration	2018-05-22
DOID:0080256	Perrault syndrome 6	skos:exactMatch	MIM:617565	Perrault syndrome 6	semapv:ManualMappingCuration	2017-08-08
DOID:0080257	autosomal recessive congenital ichthyosis 13	skos:exactMatch	MIM:617574	Ichthyosis, congenital, autosomal recessive 13	semapv:ManualMappingCuration	2017-08-08
DOID:0080258	autosomal recessive congenital ichthyosis 14	skos:exactMatch	MIM:617571	Ichthyosis, congenital, autosomal recessive 14	semapv:ManualMappingCuration	2018-05-22
DOID:0080259	autosomal recessive spinocerebellar ataxia 25	skos:exactMatch	MIM:617584	?Spinocerebellar ataxia, autosomal recessive 25	semapv:ManualMappingCuration	2017-12-07
DOID:0080260	autosomal recessive spinocerebellar ataxia 26	skos:exactMatch	MIM:617633	?Spinocerebellar ataxia, autosomal recessive 26	semapv:ManualMappingCuration	2017-12-07
DOID:0080261	autosomal recessive nonsyndromic deafness 106	skos:exactMatch	MIM:617637	Deafness autosomal recessive 106	semapv:ManualMappingCuration	2017-12-01
DOID:0080262	autosomal recessive nonsyndromic deafness 107	skos:exactMatch	MIM:617639	Deafness, autosomal recessive 107	semapv:ManualMappingCuration	2017-12-01
DOID:0080263	autosomal recessive nonsyndromic deafness 108	skos:exactMatch	MIM:617654	?Deafness, autosomal recessive 108	semapv:ManualMappingCuration	2017-12-01
DOID:0080264	exudative vitreoretinopathy 7	skos:exactMatch	MIM:617572	Exudative vitreoretinopathy 7	semapv:ManualMappingCuration	2018-05-22
DOID:0080265	nephrotic syndrome type 14	skos:exactMatch	MIM:617575	RENI syndrome	semapv:ManualMappingCuration	2017-12-06
DOID:0080266	primary ciliary dyskinesia 37	skos:exactMatch	MIM:617577	Ciliary dyskinesia, primary, 37	semapv:ManualMappingCuration	2018-05-22
DOID:0080267	autosomal dominant nonsyndromic deafness 71	skos:exactMatch	MIM:617605	?Deafness, autosomal dominant 71	semapv:ManualMappingCuration	2017-12-01
DOID:0080268	autosomal dominant nonsyndromic deafness 72	skos:exactMatch	MIM:617606	?Deafness, autosomal dominant 72	semapv:ManualMappingCuration	2017-12-01
DOID:0080269	autosomal dominant nonsyndromic deafness 73	skos:exactMatch	MIM:617663	Deafness, autosomal dominant 73	semapv:ManualMappingCuration	2017-12-01
DOID:0080270	autosomal dominant nonsyndromic deafness 34	skos:exactMatch	MIM:617772	Deafness, autosomal dominant 34, with or without inflammation	semapv:ManualMappingCuration	2018-01-15
DOID:0080271	nephrotic syndrome type 15	skos:exactMatch	MIM:617609	Nephrotic syndrome, type 15	semapv:ManualMappingCuration	2017-12-06
DOID:0080272	nephrotic syndrome type 16	skos:exactMatch	MIM:617783	Nephrotic syndrome, type 16	semapv:ManualMappingCuration	2018-01-17
DOID:0080273	polycystic kidney disease 5	skos:exactMatch	MIM:617610	Polycystic kidney disease 5	semapv:ManualMappingCuration	2017-12-07
DOID:0080274	multiple mitochondrial dysfunctions syndrome 5	skos:exactMatch	MIM:617613	Multiple mitochondrial dysfunctions syndrome 5	semapv:ManualMappingCuration	2017-12-06
DOID:0080275	Joubert syndrome 30	skos:exactMatch	MIM:617622	Joubert syndrome 30	semapv:ManualMappingCuration	2018-01-16
DOID:0080277	Joubert syndrome 31	skos:exactMatch	MIM:617761	Joubert syndrome 31	semapv:ManualMappingCuration	2018-01-17
DOID:0080278	Joubert syndrome 32	skos:exactMatch	MIM:617757	Joubert syndrome 32	semapv:ManualMappingCuration	2018-01-17
DOID:0080279	Joubert syndrome 33	skos:exactMatch	MIM:617767	Joubert syndrome 33	semapv:ManualMappingCuration	2018-01-17
DOID:0080280	gingival fibromatosis 5	skos:exactMatch	MIM:617626	Fibromatosis, gingival, 5	semapv:ManualMappingCuration	2017-12-04
DOID:0080281	schizophrenia 19	skos:exactMatch	MIM:617629	{Schizophrenia 19, susceptibility to}	semapv:ManualMappingCuration	2017-12-07
DOID:0080282	developmental and epileptic encephalopathy 56	skos:exactMatch	MIM:617665	Developmental and epileptic encephalopathy 56	semapv:ManualMappingCuration	2017-12-04
DOID:0080283	developmental and epileptic encephalopathy 55	skos:exactMatch	MIM:617599	Developmental and epileptic encephalopathy 55	semapv:ManualMappingCuration	2017-12-04
DOID:0080284	developmental and epileptic encephalopathy 57	skos:exactMatch	MIM:617771	Developmental and epileptic encephalopathy 57	semapv:ManualMappingCuration	2018-05-22
DOID:0080285	developmental and epileptic encephalopathy 58	skos:exactMatch	MIM:617830	Developmental and epileptic encephalopathy 58	semapv:ManualMappingCuration	2018-02-07
DOID:0080286	spinocerebellar ataxia 44	skos:exactMatch	MIM:617691	Spinocerebellar ataxia 44	semapv:ManualMappingCuration	2017-12-07
DOID:0080287	spinocerebellar ataxia 45	skos:exactMatch	MIM:617769	Spinocerebellar ataxia 45	semapv:ManualMappingCuration	
DOID:0080288	spinocerebellar ataxia 46	skos:exactMatch	MIM:617770	?Spinocerebellar ataxia 46	semapv:ManualMappingCuration	2018-01-18
DOID:0080289	orofaciodigital syndrome XVII	skos:exactMatch	MIM:617926	?Orofaciodigital syndrome XVII	semapv:ManualMappingCuration	2018-04-24
DOID:0080290	familial erythrocytosis 5	skos:exactMatch	MIM:617907	Erythrocytosis, familial, 5	semapv:ManualMappingCuration	2018-05-16
DOID:0080291	developmental and epileptic encephalopathy 59	skos:exactMatch	MIM:617904	Developmental and epileptic encephalopathy 59	semapv:ManualMappingCuration	2018-04-18
DOID:0080292	retinitis pigmentosa 81	skos:exactMatch	MIM:617871	?Retinitis pigmentosa 81	semapv:ManualMappingCuration	2018-03-15
DOID:0080293	short-rib thoracic dysplasia 18 with polydactyly	skos:exactMatch	MIM:617866	Short-rib thoracic dysplasia 18 with polydactyly	semapv:ManualMappingCuration	2018-03-15
DOID:0080294	Charcot-Marie-Tooth disease dominant intermediate G	skos:exactMatch	MIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	semapv:ManualMappingCuration	2018-05-22
DOID:0080295	short-rib thoracic dysplasia 19 with or without polydactyly	skos:exactMatch	MIM:617895	Short-rib thoracic dysplasia 19 with or without polydactyly	semapv:ManualMappingCuration	2018-04-25
DOID:0080296	hypomyelinating leukodystrophy 14	skos:exactMatch	MIM:617899	Leukodystrophy, hypomyelinating, 14	semapv:ManualMappingCuration	2018-04-23
DOID:0080297	Coffin-Siris syndrome 6	skos:exactMatch	MIM:617808	Coffin-Siris syndrome 6	semapv:ManualMappingCuration	2018-01-12
DOID:0080299	partial lipodystrophy	skos:exactMatch	MIM:608709	{Lipodystrophy, partial, acquired, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0080301	atypical hemolytic-uremic syndrome	skos:exactMatch	MIM:235400	{Hemolytic uremic syndrome, atypical, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0080301	atypical hemolytic-uremic syndrome	skos:exactMatch	MIM:612922	{Hemolytic uremic syndrome, atypical, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:0080301	atypical hemolytic-uremic syndrome	skos:exactMatch	MIM:612923	{Hemolytic uremic syndrome, atypical, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:0080301	atypical hemolytic-uremic syndrome	skos:exactMatch	MIM:612924	{Hemolytic uremic syndrome, atypical, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:0080301	atypical hemolytic-uremic syndrome	skos:exactMatch	MIM:612925	{Hemolytic uremic syndrome, atypical, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:0080301	atypical hemolytic-uremic syndrome	skos:exactMatch	MIM:612926	{Hemolytic uremic syndrome, atypical, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:0080301	atypical hemolytic-uremic syndrome	skos:exactMatch	MIM:PS235400	{Hemolytic uremic syndrome, atypical, susceptibility to}	semapv:ManualMappingCuration	2023-10-09
DOID:0080307	myofibrillar myopathy	skos:exactMatch	MIM:PS601419	Myopathy, myofibrillar, 1	semapv:ManualMappingCuration	2018-06-18
DOID:0080308	myofibrillar myopathy 8	skos:exactMatch	MIM:617258	Myopathy, myofibrillar, 8	semapv:ManualMappingCuration	2017-03-28
DOID:0080309	fatal infantile hypertonic myofibrillar myopathy	skos:exactMatch	MIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	semapv:ManualMappingCuration	2018-06-19
DOID:0080311	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	skos:exactMatch	MIM:300486	Intellectual developmental disorder, X-linked syndromic, Billuart type	semapv:ManualMappingCuration	2017-10-03
DOID:0080312	neurodevelopmental disorder with midbrain and hindbrain malformations	skos:exactMatch	MIM:617523	?Neurodevelopmental disorder with midbrain and hindbrain malformations	semapv:ManualMappingCuration	2017-07-12
DOID:0080313	cleft palate-lateral synechia syndrome	skos:exactMatch	MIM:119550	SYNGNATHIA	semapv:ManualMappingCuration	2018-08-22
DOID:0080314	cone-rod dystrophy 14	skos:exactMatch	MIM:602093	Cone-rod dystrophy 14	semapv:ManualMappingCuration	2017-10-03
DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts	skos:exactMatch	MIM:PS604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	semapv:ManualMappingCuration	2018-07-05
DOID:0080316	megalencephalic leukoencephalopathy with subcortical cysts 1	skos:exactMatch	MIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	semapv:ManualMappingCuration	2018-07-05
DOID:0080317	megalencephalic leukoencephalopathy with subcortical cysts 2B	skos:exactMatch	MIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development	semapv:ManualMappingCuration	2014-09-09
DOID:0080318	megalencephalic leukoencephalopathy with subcortical cysts 2A	skos:exactMatch	MIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	semapv:ManualMappingCuration	2014-09-09
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia	skos:exactMatch	MIM:300853	Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia	semapv:ManualMappingCuration	2014-09-09
DOID:0080322	polycystic kidney disease	skos:exactMatch	MIM:PS173900	Polycystic kidney disease 1	semapv:ManualMappingCuration	2019-04-19
DOID:0080324	tuberous sclerosis 1	skos:exactMatch	MIM:191100	Tuberous sclerosis-1	semapv:ManualMappingCuration	2017-10-03
DOID:0080325	tuberous sclerosis 2	skos:exactMatch	MIM:613254	Tuberous sclerosis-2	semapv:ManualMappingCuration	2017-10-03
DOID:0080326	familial hypertrophic cardiomyopathy	skos:exactMatch	MIM:PS192600	Cardiomyopathy, familial hypertrophic	semapv:ManualMappingCuration	2018-06-29
DOID:0080327	multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly	skos:exactMatch	MIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	semapv:ManualMappingCuration	2018-09-28
DOID:0080328	Culler-Jones syndrome	skos:exactMatch	MIM:615849	Culler-Jones syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:0080329	cold-induced sweating syndrome 1	skos:exactMatch	MIM:272430	Cold-induced sweating syndrome 1	semapv:ManualMappingCuration	
DOID:0080330	cold-induced sweating syndrome 2	skos:exactMatch	MIM:610313	Cold-induced sweating syndrome 2	semapv:ManualMappingCuration	2017-06-30
DOID:0080331	cold-induced sweating syndrome 3	skos:exactMatch	MIM:617055	PERCHING syndrome	semapv:ManualMappingCuration	2017-02-28
DOID:0080332	bicuspid aortic valve disease	skos:exactMatch	MIM:PS109730	Aortic valve disease 1	semapv:ManualMappingCuration	2018-09-28
DOID:0080333	aortic valve disease 1	skos:exactMatch	MIM:109730	Aortic valve disease 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080334	aortic valve disease 2	skos:exactMatch	MIM:614823	Aortic valve disease 2	semapv:ManualMappingCuration	2014-09-02
DOID:0080335	mitochondrial DNA depletion syndrome 12b	skos:exactMatch	MIM:615418	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR	semapv:ManualMappingCuration	2017-06-19
DOID:0080336	mitochondrial DNA depletion syndrome 14	skos:exactMatch	MIM:616896	?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)	semapv:ManualMappingCuration	2017-05-10
DOID:0080337	mitochondrial DNA depletion syndrome 15	skos:exactMatch	MIM:617156	?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	semapv:ManualMappingCuration	2016-11-10
DOID:0080338	familial erythrocytosis 3	skos:exactMatch	MIM:609820	Erythrocytosis, familial, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0080339	familial erythrocytosis 4	skos:exactMatch	MIM:611783	Erythrocytosis, familial, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0080342	Simpson-Golabi-Behmel syndrome type 2	skos:exactMatch	MIM:300209	Simpson-Golabi-Behmel syndrome, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080343	autosomal recessive pyridoxine-refractory sideroblastic anemia 3	skos:exactMatch	MIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory	semapv:ManualMappingCuration	2016-05-10
DOID:0080344	blepharocheilodontic syndrome	skos:exactMatch	MIM:PS119580	Blepharocheilodontic syndrome 1	semapv:ManualMappingCuration	2018-10-11
DOID:0080345	blepharocheilodontic syndrome 1	skos:exactMatch	MIM:119580	Blepharocheilodontic syndrome 1	semapv:ManualMappingCuration	2017-11-30
DOID:0080346	blepharocheilodontic syndrome 2	skos:exactMatch	MIM:617681	Blepharocheilodontic syndrome 2	semapv:ManualMappingCuration	2017-11-30
DOID:0080348	Alzheimer's disease 1	skos:exactMatch	MIM:104300	{Alzheimer disease, susceptibility to}	semapv:ManualMappingCuration	2018-10-11
DOID:0080349	developmental and epileptic encephalopathy 39	skos:exactMatch	MIM:612949	Developmental and epileptic encephalopathy 39	semapv:ManualMappingCuration	2017-10-03
DOID:0080350	retinitis pigmentosa 77	skos:exactMatch	MIM:617304	Retinitis pigmentosa 77	semapv:ManualMappingCuration	2017-04-03
DOID:0080351	CLOVES syndrome	skos:exactMatch	MIM:612918	CLOVE syndrome, somatic	semapv:ManualMappingCuration	2014-10-20
DOID:0080352	X-linked chondrodysplasia punctata 2	skos:exactMatch	MIM:302960	Chondrodysplasia punctata, X-linked dominant	semapv:ManualMappingCuration	2017-10-10
DOID:0080353	X-linked recessive hypophosphatemic rickets	skos:exactMatch	MIM:300554	Hypophosphatemic rickets	semapv:ManualMappingCuration	2018-10-12
DOID:0080354	Phelan-McDermid syndrome	skos:exactMatch	MIM:606232	Phelan-McDermid syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0080357	mitochondrial complex IV deficiency nuclear type 2	skos:exactMatch	MIM:604377	Mitochondrial complex IV deficiency, nuclear type 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080358	mitochondrial complex IV deficiency nuclear type 6	skos:exactMatch	MIM:615119	Mitochondrial complex IV deficiency, nuclear type 6	semapv:ManualMappingCuration	2014-09-02
DOID:0080359	mitochondrial complex IV deficiency nuclear type 9	skos:exactMatch	MIM:616500	?Mitochondrial complex IV, deficiency, nuclear type 9	semapv:ManualMappingCuration	2017-02-24
DOID:0080360	mitochondrial complex IV deficiency nuclear type 13	skos:exactMatch	MIM:616501	Mitochondrial complex IV deficiency, nuclear type 13	semapv:ManualMappingCuration	2017-02-24
DOID:0080361	trimethylaminuria	skos:exactMatch	MIM:602079	Trimethylaminuria	semapv:ManualMappingCuration	2017-10-03
DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda	skos:exactMatch	MIM:313400	Spondyloepiphyseal dysplasia tarda	semapv:ManualMappingCuration	2018-12-17
DOID:0080363	mitochondrial pyruvate carrier deficiency	skos:exactMatch	MIM:614741	Mitochondrial pyruvate carrier deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:0080376	trichorhinophalangeal syndrome type III	skos:exactMatch	MIM:190351	Trichorhinophalangeal syndrome, type III	semapv:ManualMappingCuration	2017-10-03
DOID:0080377	peroxisomal biogenesis disorder	skos:exactMatch	MIM:PS214100	Peroxisome biogenesis disorder 1A (Zellweger)	semapv:ManualMappingCuration	2019-02-25
DOID:0080379	nephrotic syndrome type 2	skos:exactMatch	MIM:600995	Nephrotic syndrome, type 2	semapv:ManualMappingCuration	2017-10-10
DOID:0080380	nephrotic syndrome type 5	skos:exactMatch	MIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities	semapv:ManualMappingCuration	2014-09-09
DOID:0080381	nephrotic syndrome type 13	skos:exactMatch	MIM:616893	?Nephrotic syndrome, type 13	semapv:ManualMappingCuration	2016-04-19
DOID:0080382	nephrotic syndrome type 3	skos:exactMatch	MIM:610725	Nephrotic syndrome, type 3	semapv:ManualMappingCuration	2014-06-23
DOID:0080383	nephrotic syndrome type 4	skos:exactMatch	MIM:256370	Nephrotic syndrome, type 4	semapv:ManualMappingCuration	2014-06-23
DOID:0080384	nephrotic syndrome type 6	skos:exactMatch	MIM:614196	Nephrotic syndrome, type 6	semapv:ManualMappingCuration	2014-09-09
DOID:0080385	nephrotic syndrome type 11	skos:exactMatch	MIM:616730	Nephrotic syndrome, type 11	semapv:ManualMappingCuration	2016-02-10
DOID:0080386	nephrotic syndrome type 10	skos:exactMatch	MIM:615861	Nephrotic syndrome, type 10	semapv:ManualMappingCuration	2017-03-29
DOID:0080387	nephrotic syndrome type 12	skos:exactMatch	MIM:616892	Nephrotic syndrome, type 12	semapv:ManualMappingCuration	2016-04-19
DOID:0080388	nephrotic syndrome type 7	skos:exactMatch	MIM:615008	Nephrotic syndrome, type 7	semapv:ManualMappingCuration	2014-09-09
DOID:0080389	nephrotic syndrome type 8	skos:exactMatch	MIM:615244	Nephrotic syndrome, type 8	semapv:ManualMappingCuration	2014-09-09
DOID:0080390	nephrotic syndrome type 1	skos:exactMatch	MIM:256300	Nephrotic syndrome, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080391	nephrotic syndrome type 9	skos:exactMatch	MIM:615573	Nephrotic syndrome, type 9	semapv:ManualMappingCuration	2014-09-09
DOID:0080392	nephrotic syndrome type 17	skos:exactMatch	MIM:618176	Nephrotic syndrome, type 17	semapv:ManualMappingCuration	2019-01-15
DOID:0080393	nephrotic syndrome type 18	skos:exactMatch	MIM:618177	Nephrotic syndrome, type 18	semapv:ManualMappingCuration	2019-01-15
DOID:0080394	nephrotic syndrome type 19	skos:exactMatch	MIM:618178	?Nephrotic syndrome, type 19	semapv:ManualMappingCuration	2019-01-15
DOID:0080395	orofacial cleft 1	skos:exactMatch	MIM:119530	Orofacial cleft-1	semapv:ManualMappingCuration	2017-10-03
DOID:0080396	orofacial cleft 2	skos:exactMatch	MIM:602966	Orofacial cleft 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080397	orofacial cleft 3	skos:exactMatch	MIM:600757	Orofacial cleft 3	semapv:ManualMappingCuration	2017-10-03
DOID:0080398	orofacial cleft 4	skos:exactMatch	MIM:608371	Orofacial cleft 4	semapv:ManualMappingCuration	2017-10-03
DOID:0080399	orofacial cleft 5	skos:exactMatch	MIM:608874	Orofacial cleft 5	semapv:ManualMappingCuration	2017-10-03
DOID:0080401	orofacial cleft 8	skos:exactMatch	MIM:618149	Orofacial cleft 8	semapv:ManualMappingCuration	2019-02-22
DOID:0080402	orofacial cleft 9	skos:exactMatch	MIM:610361	Orofacial cleft 9	semapv:ManualMappingCuration	2017-10-03
DOID:0080403	orofacial cleft 10	skos:exactMatch	MIM:613705	?Orofacial cleft 10	semapv:ManualMappingCuration	2017-10-03
DOID:0080404	orofacial cleft 11	skos:exactMatch	MIM:600625	Orofacial cleft 11	semapv:ManualMappingCuration	2017-10-03
DOID:0080405	orofacial cleft 12	skos:exactMatch	MIM:612858	Orofacial cleft 12	semapv:ManualMappingCuration	2017-10-03
DOID:0080406	orofacial cleft 13	skos:exactMatch	MIM:613857	Orofacial cleft 13	semapv:ManualMappingCuration	2014-06-23
DOID:0080407	orofacial cleft 14	skos:exactMatch	MIM:615892	Orofacial cleft 14	semapv:ManualMappingCuration	2017-10-03
DOID:0080408	orofacial cleft 15	skos:exactMatch	MIM:616788	?Orofacial cleft 15	semapv:ManualMappingCuration	2016-03-11
DOID:0080409	familial adenomatous polyposis 1	skos:exactMatch	MIM:175100	Gardner syndrome	semapv:ManualMappingCuration	2019-02-22
DOID:0080410	familial adenomatous polyposis 2	skos:exactMatch	MIM:608456	Adenomas, multiple colorectal	semapv:ManualMappingCuration	2017-10-03
DOID:0080411	familial adenomatous polyposis 3	skos:exactMatch	MIM:616415	Familial adenomatous polyposis 3	semapv:ManualMappingCuration	2017-03-27
DOID:0080412	familial adenomatous polyposis 4	skos:exactMatch	MIM:617100	Familial adenomatous polyposis 4	semapv:ManualMappingCuration	2017-03-27
DOID:0080413	developmental and epileptic encephalopathy 18	skos:exactMatch	MIM:615476	Developmental and epileptic encephalopathy 18	semapv:ManualMappingCuration	2014-09-09
DOID:0080414	developmental and epileptic encephalopathy 15	skos:exactMatch	MIM:615006	Developmental and epileptic encephalopathy 15	semapv:ManualMappingCuration	2014-09-09
DOID:0080415	developmental and epileptic encephalopathy 23	skos:exactMatch	MIM:615859	Developmental and epileptic encephalopathy 23	semapv:ManualMappingCuration	2014-09-09
DOID:0080416	developmental and epileptic encephalopathy 32	skos:exactMatch	MIM:616366	Developmental and epileptic encephalopathy 32	semapv:ManualMappingCuration	2017-01-24
DOID:0080417	developmental and epileptic encephalopathy 38	skos:exactMatch	MIM:617020	Developmental and epileptic encephalopathy 38	semapv:ManualMappingCuration	2016-08-09
DOID:0080418	developmental and epileptic encephalopathy 54	skos:exactMatch	MIM:617391	Developmental and epileptic encephalopathy 54	semapv:ManualMappingCuration	2017-06-15
DOID:0080419	developmental and epileptic encephalopathy 50	skos:exactMatch	MIM:616457	Developmental and epileptic encephalopathy 50	semapv:ManualMappingCuration	2017-02-28
DOID:0080420	developmental and epileptic encephalopathy 62	skos:exactMatch	MIM:617938	Developmental and epileptic encephalopathy 62	semapv:ManualMappingCuration	2018-05-21
DOID:0080421	developmental and epileptic encephalopathy 11	skos:exactMatch	MIM:613721	Developmental and epileptic encephalopathy 11	semapv:ManualMappingCuration	2014-06-23
DOID:0080422	Dravet syndrome	skos:exactMatch	MIM:607208	Dravet syndrome	semapv:ManualMappingCuration	2018-02-22
DOID:0080424	developmental and epileptic encephalopathy 44	skos:exactMatch	MIM:617132	Developmental and epileptic encephalopathy 44	semapv:ManualMappingCuration	2016-11-09
DOID:0080425	developmental and epileptic encephalopathy 47	skos:exactMatch	MIM:617166	Developmental and epileptic encephalopathy 47	semapv:ManualMappingCuration	2016-11-09
DOID:0080426	developmental and epileptic encephalopathy 63	skos:exactMatch	MIM:617976	Developmental and epileptic encephalopathy 63	semapv:ManualMappingCuration	2018-06-18
DOID:0080427	developmental and epileptic encephalopathy 40	skos:exactMatch	MIM:617065	?Developmental and epileptic encephalopathy 40	semapv:ManualMappingCuration	2017-03-27
DOID:0080428	developmental and epileptic encephalopathy 45	skos:exactMatch	MIM:617153	Developmental and epileptic encephalopathy 45	semapv:ManualMappingCuration	2017-03-27
DOID:0080429	developmental and epileptic encephalopathy 24	skos:exactMatch	MIM:615871	Developmental and epileptic encephalopathy 24	semapv:ManualMappingCuration	2017-03-09
DOID:0080430	developmental and epileptic encephalopathy 65	skos:exactMatch	MIM:618008	Developmental and epileptic encephalopathy 65	semapv:ManualMappingCuration	2018-07-10
DOID:0080431	developmental and epileptic encephalopathy 19	skos:exactMatch	MIM:615744	Developmental and epileptic encephalopathy 19	semapv:ManualMappingCuration	2015-02-11
DOID:0080432	developmental and epileptic encephalopathy 60	skos:exactMatch	MIM:617929	Developmental and epileptic encephalopathy 60	semapv:ManualMappingCuration	2018-05-21
DOID:0080433	developmental and epileptic encephalopathy 51	skos:exactMatch	MIM:617339	Developmental and epileptic encephalopathy 51	semapv:ManualMappingCuration	2017-06-15
DOID:0080434	developmental and epileptic encephalopathy 61	skos:exactMatch	MIM:617933	Developmental and epileptic encephalopathy 61	semapv:ManualMappingCuration	2018-05-21
DOID:0080435	developmental and epileptic encephalopathy 37	skos:exactMatch	MIM:616981	Developmental and epileptic encephalopathy 37	semapv:ManualMappingCuration	2017-10-10
DOID:0080436	developmental and epileptic encephalopathy 4	skos:exactMatch	MIM:612164	Developmental and epileptic encephalopathy 4	semapv:ManualMappingCuration	2017-10-03
DOID:0080437	developmental and epileptic encephalopathy 31A	skos:exactMatch	MIM:616346	Developmental and epileptic encephalopathy 31A, autosomal dominant	semapv:ManualMappingCuration	2016-04-13
DOID:0080438	developmental and epileptic encephalopathy 5	skos:exactMatch	MIM:613477	Developmental and epileptic encephalopathy 5	semapv:ManualMappingCuration	2014-06-23
DOID:0080439	developmental and epileptic encephalopathy 14	skos:exactMatch	MIM:614959	Developmental and epileptic encephalopathy 14	semapv:ManualMappingCuration	2014-09-09
DOID:0080440	developmental and epileptic encephalopathy 3	skos:exactMatch	MIM:609304	Developmental and epileptic encephalopathy 3	semapv:ManualMappingCuration	2017-10-03
DOID:0080441	developmental and epileptic encephalopathy 49	skos:exactMatch	MIM:617281	Developmental and epileptic encephalopathy 49	semapv:ManualMappingCuration	2017-03-27
DOID:0080442	developmental and epileptic encephalopathy 41	skos:exactMatch	MIM:617105	Developmental and epileptic encephalopathy 41	semapv:ManualMappingCuration	2017-03-27
DOID:0080443	developmental and epileptic encephalopathy 21	skos:exactMatch	MIM:615833	Developmental and epileptic encephalopathy 21	semapv:ManualMappingCuration	2014-09-09
DOID:0080444	developmental and epileptic encephalopathy 27	skos:exactMatch	MIM:616139	Developmental and epileptic encephalopathy 27	semapv:ManualMappingCuration	2017-03-09
DOID:0080445	developmental and epileptic encephalopathy 13	skos:exactMatch	MIM:614558	Developmental and epileptic encephalopathy 13	semapv:ManualMappingCuration	2014-09-09
DOID:0080446	developmental and epileptic encephalopathy 66	skos:exactMatch	MIM:618067	Developmental and epileptic encephalopathy 66	semapv:ManualMappingCuration	2019-02-22
DOID:0080447	developmental and epileptic encephalopathy 43	skos:exactMatch	MIM:617113	Developmental and epileptic encephalopathy 43	semapv:ManualMappingCuration	2017-03-27
DOID:0080448	developmental and epileptic encephalopathy 48	skos:exactMatch	MIM:617276	Developmental and epileptic encephalopathy 48	semapv:ManualMappingCuration	2017-03-27
DOID:0080449	developmental and epileptic encephalopathy 16	skos:exactMatch	MIM:615338	Developmental and epileptic encephalopathy 16	semapv:ManualMappingCuration	2014-09-09
DOID:0080450	developmental and epileptic encephalopathy 17	skos:exactMatch	MIM:615473	Developmental and epileptic encephalopathy 17	semapv:ManualMappingCuration	2014-09-09
DOID:0080451	developmental and epileptic encephalopathy 29	skos:exactMatch	MIM:616339	Developmental and epileptic encephalopathy 29	semapv:ManualMappingCuration	2016-08-09
DOID:0080452	developmental and epileptic encephalopathy 28	skos:exactMatch	MIM:616211	Developmental and epileptic encephalopathy 28	semapv:ManualMappingCuration	2017-03-27
DOID:0080453	developmental and epileptic encephalopathy 25	skos:exactMatch	MIM:615905	Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta	semapv:ManualMappingCuration	2017-03-09
DOID:0080454	developmental and epileptic encephalopathy 42	skos:exactMatch	MIM:617106	Developmental and epileptic encephalopathy 42	semapv:ManualMappingCuration	2016-11-09
DOID:0080455	developmental and epileptic encephalopathy 52	skos:exactMatch	MIM:617350	Developmental and epileptic encephalopathy 52	semapv:ManualMappingCuration	2017-06-15
DOID:0080456	developmental and epileptic encephalopathy 46	skos:exactMatch	MIM:617162	Developmental and epileptic encephalopathy 46	semapv:ManualMappingCuration	2017-03-27
DOID:0080457	microcephaly, seizures, and developmental delay	skos:exactMatch	MIM:613402	Microcephaly, seizures, and developmental delay	semapv:ManualMappingCuration	2014-06-23
DOID:0080458	developmental and epileptic encephalopathy 35	skos:exactMatch	MIM:616647	Developmental and epileptic encephalopathy 35	semapv:ManualMappingCuration	2015-12-08
DOID:0080459	developmental and epileptic encephalopathy 12	skos:exactMatch	MIM:613722	Developmental and epileptic encephalopathy 12	semapv:ManualMappingCuration	2014-06-23
DOID:0080460	developmental and epileptic encephalopathy 34	skos:exactMatch	MIM:616645	Developmental and epileptic encephalopathy 34	semapv:ManualMappingCuration	2016-01-13
DOID:0080461	developmental and epileptic encephalopathy 26	skos:exactMatch	MIM:616056	Developmental and epileptic encephalopathy 26	semapv:ManualMappingCuration	2017-03-09
DOID:0080462	developmental and epileptic encephalopathy 7	skos:exactMatch	MIM:613720	Developmental and epileptic encephalopathy 7	semapv:ManualMappingCuration	2014-06-23
DOID:0080463	developmental and epileptic encephalopathy 33	skos:exactMatch	MIM:616409	Developmental and epileptic encephalopathy 33	semapv:ManualMappingCuration	2017-01-24
DOID:0080464	developmental and epileptic encephalopathy 53	skos:exactMatch	MIM:617389	Developmental and epileptic encephalopathy 53	semapv:ManualMappingCuration	2017-06-15
DOID:0080465	developmental and epileptic encephalopathy 30	skos:exactMatch	MIM:616341	Developmental and epileptic encephalopathy 30	semapv:ManualMappingCuration	2017-03-27
DOID:0080467	developmental and epileptic encephalopathy 2	skos:exactMatch	MIM:300672	Developmental and epileptic encephalopathy 2	semapv:ManualMappingCuration	2018-03-13
DOID:0080468	developmental and epileptic encephalopathy 1	skos:exactMatch	MIM:308350	Developmental and epileptic encephalopathy 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080470	developmental and epileptic encephalopathy 36	skos:exactMatch	MIM:300884	Developmental and epileptic encephalopathy 36	semapv:ManualMappingCuration	2014-09-09
DOID:0080471	developmental and epileptic encephalopathy 92	skos:exactMatch	MIM:617829	Developmental and epileptic encephalopathy 92	semapv:ManualMappingCuration	2019-02-22
DOID:0080472	developmental and epileptic encephalopathy 91	skos:exactMatch	MIM:617711	Developmental and epileptic encephalopathy 91	semapv:ManualMappingCuration	2018-02-07
DOID:0080473	developmental delay and seizures with or without movement abnormalities	skos:exactMatch	MIM:617836	Developmental delay and seizures with or without movement abnormalities	semapv:ManualMappingCuration	2018-02-07
DOID:0080474	pustular psoriasis 14	skos:exactMatch	MIM:614204	Psoriasis 14, pustular	semapv:ManualMappingCuration	2014-09-09
DOID:0080475	psoriasis 2	skos:exactMatch	MIM:602723	Psoriasis 2	semapv:ManualMappingCuration	2019-02-22
DOID:0080476	peroxisome biogenesis disorder 1A	skos:exactMatch	MIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	semapv:ManualMappingCuration	2017-10-03
DOID:0080477	peroxisome biogenesis disorder 2A	skos:exactMatch	MIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	semapv:ManualMappingCuration	2014-09-09
DOID:0080478	peroxisome biogenesis disorder 3A	skos:exactMatch	MIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	semapv:ManualMappingCuration	2014-10-20
DOID:0080479	peroxisome biogenesis disorder 4A	skos:exactMatch	MIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	semapv:ManualMappingCuration	2014-10-20
DOID:0080480	peroxisome biogenesis disorder 5A	skos:exactMatch	MIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	semapv:ManualMappingCuration	2014-09-09
DOID:0080481	peroxisome biogenesis disorder 6A	skos:exactMatch	MIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	semapv:ManualMappingCuration	2018-04-24
DOID:0080482	peroxisome biogenesis disorder 7A	skos:exactMatch	MIM:614872	Peroxisome biogenesis disorder 7A (Zellweger)	semapv:ManualMappingCuration	2014-09-09
DOID:0080483	peroxisome biogenesis disorder 8A	skos:exactMatch	MIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	semapv:ManualMappingCuration	2014-09-09
DOID:0080484	peroxisome biogenesis disorder 10A	skos:exactMatch	MIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	semapv:ManualMappingCuration	2014-09-09
DOID:0080485	peroxisome biogenesis disorder 11A	skos:exactMatch	MIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	semapv:ManualMappingCuration	2014-09-09
DOID:0080486	peroxisome biogenesis disorder 12A	skos:exactMatch	MIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	semapv:ManualMappingCuration	2014-09-09
DOID:0080487	peroxisome biogenesis disorder 13A	skos:exactMatch	MIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	semapv:ManualMappingCuration	2018-04-24
DOID:0080488	mucolipidosis	skos:exactMatch	MIM:PS256550	Sialidosis, type II	semapv:ManualMappingCuration	2023-07-11
DOID:0080489	GM1 gangliosidosis type 3	skos:exactMatch	MIM:230650	GM1-gangliosidosis, type III	semapv:ManualMappingCuration	2019-02-22
DOID:0080490	mucolipidosis type IV	skos:exactMatch	MIM:252650	Mucolipidosis IV	semapv:ManualMappingCuration	2019-02-23
DOID:0080491	cerebral cavernous malformation 1	skos:exactMatch	MIM:116860	Cavernous malformations of CNS and retina	semapv:ManualMappingCuration	2017-10-03
DOID:0080493	ovarian dysgenesis 1	skos:exactMatch	MIM:233300	Ovarian dysgenesis 1	semapv:ManualMappingCuration	2014-06-23
DOID:0080494	ovarian dysgenesis 2	skos:exactMatch	MIM:300510	Premature ovarian failure 4	semapv:ManualMappingCuration	2017-10-03
DOID:0080495	ovarian dysgenesis 3	skos:exactMatch	MIM:614324	Ovarian dysgenesis 3	semapv:ManualMappingCuration	2014-09-09
DOID:0080496	ovarian dysgenesis 4	skos:exactMatch	MIM:616185	Ovarian dysgenesis 4	semapv:ManualMappingCuration	2017-06-20
DOID:0080497	ovarian dysgenesis 5	skos:exactMatch	MIM:617690	Ovarian dysgenesis 5	semapv:ManualMappingCuration	2017-12-06
DOID:0080498	ovarian dysgenesis 6	skos:exactMatch	MIM:618078	?Ovarian dysgenesis 6	semapv:ManualMappingCuration	2018-09-13
DOID:0080499	ovarian dysgenesis 7	skos:exactMatch	MIM:618117	Ovarian dysgenesis 7	semapv:ManualMappingCuration	2018-10-11
DOID:0080500	ovarian dysgenesis 8	skos:exactMatch	MIM:618187	?Ovarian dysgenesis 8	semapv:ManualMappingCuration	2019-01-16
DOID:0080501	GM1 gangliosidosis type 2	skos:exactMatch	MIM:230600	GM1-gangliosidosis, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0080502	GM1 gangliosidosis type 1	skos:exactMatch	MIM:230500	GM1-gangliosidosis, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0080503	multiple congenital anomalies-hypotonia-seizures syndrome	skos:exactMatch	MIM:PS614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	semapv:ManualMappingCuration	2019-03-01
DOID:0080504	Parkinson's disease 22	skos:exactMatch	MIM:616710	Parkinson disease 22, autosomal dominant	semapv:ManualMappingCuration	2016-01-14
DOID:0080505	Cornelia de Lange syndrome 1	skos:exactMatch	MIM:122470	Cornelia de Lange syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080506	Cornelia de Lange syndrome 2	skos:exactMatch	MIM:300590	Cornelia de Lange syndrome 2	semapv:ManualMappingCuration	2018-01-15
DOID:0080507	Cornelia de Lange syndrome 3	skos:exactMatch	MIM:610759	Cornelia de Lange syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:0080508	Cornelia de Lange syndrome 4	skos:exactMatch	MIM:614701	Cornelia de Lange syndrome 4	semapv:ManualMappingCuration	2014-09-09
DOID:0080509	Cornelia de Lange syndrome 5	skos:exactMatch	MIM:300882	Cornelia de Lange syndrome 5	semapv:ManualMappingCuration	2014-09-09
DOID:0080512	Meier-Gorlin syndrome 1	skos:exactMatch	MIM:224690	Meier-Gorlin syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080513	Meier-Gorlin syndrome 2	skos:exactMatch	MIM:613800	Meier-Gorlin syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080514	Meier-Gorlin syndrome 3	skos:exactMatch	MIM:613803	Meier-Gorlin syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:0080515	Meier-Gorlin syndrome 4	skos:exactMatch	MIM:613804	Meier-Gorlin syndrome 4	semapv:ManualMappingCuration	2017-10-03
DOID:0080516	Meier-Gorlin syndrome 5	skos:exactMatch	MIM:613805	?Meier-Gorlin syndrome 5	semapv:ManualMappingCuration	2017-10-03
DOID:0080517	Meier-Gorlin syndrome 6	skos:exactMatch	MIM:616835	Meier-Gorlin syndrome 6	semapv:ManualMappingCuration	2016-03-11
DOID:0080518	Meier-Gorlin syndrome 7	skos:exactMatch	MIM:617063	Meier-Gorlin syndrome 7	semapv:ManualMappingCuration	2017-05-04
DOID:0080519	PAPA syndrome	skos:exactMatch	MIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne	semapv:ManualMappingCuration	2017-10-03
DOID:0080520	Tn polyagglutination syndrome	skos:exactMatch	MIM:300622	Tn polyagglutination syndrome, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia	skos:exactMatch	MIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids 1	semapv:ManualMappingCuration	2015-12-11
DOID:0080526	bronchiectasis 1	skos:exactMatch	MIM:211400	{Bronchiectasis with or without elevated sweat chloride 1, modifier of}	semapv:ManualMappingCuration	2017-10-03
DOID:0080527	bronchiectasis 2	skos:exactMatch	MIM:613021	Bronchiectasis with or without elevated sweat chloride 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080528	bronchiectasis 3	skos:exactMatch	MIM:613071	Bronchiectasis with or without elevated sweat chloride 3	semapv:ManualMappingCuration	2017-10-03
DOID:0080530	granular corneal dystrophy 1	skos:exactMatch	MIM:121900	Corneal dystrophy, Groenouw type I	semapv:ManualMappingCuration	2017-10-03
DOID:0080533	Carney-Stratakis syndrome	skos:exactMatch	MIM:606864	Paraganglioma and gastric stromal sarcoma	semapv:ManualMappingCuration	2017-10-03
DOID:0080535	hypermanganesemia with dystonia	skos:exactMatch	MIM:PS613280	Hypermanganesemia with dystonia 1	semapv:ManualMappingCuration	2019-03-27
DOID:0080536	hypermanganesemia with dystonia 1	skos:exactMatch	MIM:613280	Hypermanganesemia with dystonia 1	semapv:ManualMappingCuration	2017-10-10
DOID:0080537	hypermanganesemia with dystonia 2	skos:exactMatch	MIM:617013	Hypermanganesemia with dystonia 2	semapv:ManualMappingCuration	2017-04-27
DOID:0080538	Sweeney-Cox syndrome	skos:exactMatch	MIM:617746	Sweeney-Cox syndrome	semapv:ManualMappingCuration	2017-12-07
DOID:0080539	PEHO syndrome	skos:exactMatch	MIM:260565	PEHO syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0080540	galactosialidosis	skos:exactMatch	MIM:256540	Galactosialidosis	semapv:ManualMappingCuration	2017-10-03
DOID:0080542	hyperprolinemia type 1	skos:exactMatch	MIM:239500	Hyperprolinemia, type I	semapv:ManualMappingCuration	2015-12-11
DOID:0080543	hyperprolinemia type 2	skos:exactMatch	MIM:239510	Hyperprolinemia, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0080544	hyper IgM syndrome	skos:exactMatch	MIM:PS308230	Immunodeficiency, X-linked, with hyper-IgM	semapv:ManualMappingCuration	2019-03-28
DOID:0080545	hyper IgE syndrome	skos:exactMatch	MIM:PS147060	Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections	semapv:ManualMappingCuration	2019-03-19
DOID:0080548	Noonan syndrome with multiple lentigines 1	skos:exactMatch	MIM:151100	LEOPARD syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080549	Noonan syndrome with multiple lentigines 2	skos:exactMatch	MIM:611554	LEOPARD syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080550	Noonan syndrome with multiple lentigines 3	skos:exactMatch	MIM:613707	LEOPARD syndrome 3	semapv:ManualMappingCuration	2014-06-23
DOID:0080551	Naxos disease	skos:exactMatch	MIM:601214	Naxos disease	semapv:ManualMappingCuration	2017-10-03
DOID:0080552	congenital disorder of glycosylation Ia	skos:exactMatch	MIM:212065	Congenital disorder of glycosylation, type Ia	semapv:ManualMappingCuration	2017-10-03
DOID:0080553	congenital disorder of glycosylation Iaa	skos:exactMatch	MIM:617082	?Congenital disorder of glycosylation, type 1aa	semapv:ManualMappingCuration	2017-02-28
DOID:0080554	congenital disorder of glycosylation Ib	skos:exactMatch	MIM:602579	Congenital disorder of glycosylation, type Ib	semapv:ManualMappingCuration	2017-10-03
DOID:0080555	congenital disorder of glycosylation Ic	skos:exactMatch	MIM:603147	Congenital disorder of glycosylation, type Ic	semapv:ManualMappingCuration	2017-10-03
DOID:0080556	congenital disorder of glycosylation Id	skos:exactMatch	MIM:601110	Congenital disorder of glycosylation, type Id	semapv:ManualMappingCuration	2017-10-03
DOID:0080557	congenital disorder of glycosylation Ie	skos:exactMatch	MIM:608799	Congenital disorder of glycosylation, type Ie	semapv:ManualMappingCuration	2017-10-03
DOID:0080558	congenital disorder of glycosylation If	skos:exactMatch	MIM:609180	Congenital disorder of glycosylation, type If	semapv:ManualMappingCuration	2017-10-03
DOID:0080559	congenital disorder of glycosylation Ig	skos:exactMatch	MIM:607143	Congenital disorder of glycosylation, type Ig	semapv:ManualMappingCuration	2017-10-03
DOID:0080560	congenital disorder of glycosylation Ih	skos:exactMatch	MIM:608104	Congenital disorder of glycosylation, type Ih	semapv:ManualMappingCuration	2017-10-03
DOID:0080561	congenital disorder of glycosylation Ii	skos:exactMatch	MIM:607906	Congenital disorder of glycosylation, type Ii	semapv:ManualMappingCuration	2017-10-03
DOID:0080562	congenital disorder of glycosylation Ij	skos:exactMatch	MIM:608093	Congenital disorder of glycosylation, type Ij	semapv:ManualMappingCuration	2017-10-03
DOID:0080563	congenital disorder of glycosylation Ik	skos:exactMatch	MIM:608540	Congenital disorder of glycosylation, type Ik	semapv:ManualMappingCuration	2017-10-03
DOID:0080564	congenital disorder of glycosylation Il	skos:exactMatch	MIM:608776	Congenital disorder of glycosylation, type Il	semapv:ManualMappingCuration	2017-10-03
DOID:0080565	congenital disorder of glycosylation Im	skos:exactMatch	MIM:610768	Congenital disorder of glycosylation, type Im	semapv:ManualMappingCuration	2017-10-03
DOID:0080566	congenital disorder of glycosylation In	skos:exactMatch	MIM:612015	Congenital disorder of glycosylation, type In	semapv:ManualMappingCuration	2017-10-03
DOID:0080567	congenital disorder of glycosylation Ip	skos:exactMatch	MIM:613661	Congenital disorder of glycosylation, type Ip	semapv:ManualMappingCuration	2014-06-23
DOID:0080568	congenital disorder of glycosylation Iq	skos:exactMatch	MIM:612379	Congenital disorder of glycosylation, type Iq	semapv:ManualMappingCuration	2014-06-23
DOID:0080569	congenital disorder of glycosylation Ir	skos:exactMatch	MIM:614507	Congenital disorder of glycosylation, type Ir	semapv:ManualMappingCuration	2014-09-09
DOID:0080570	congenital disorder of glycosylation It	skos:exactMatch	MIM:614921	Congenital disorder of glycosylation, type It	semapv:ManualMappingCuration	2017-10-03
DOID:0080571	congenital disorder of glycosylation Iu	skos:exactMatch	MIM:615042	Congenital disorder of glycosylation, type Iu	semapv:ManualMappingCuration	2014-09-09
DOID:0080572	congenital disorder of glycosylation Iw	skos:exactMatch	MIM:615596	Congenital disorder of glycosylation, type Iw, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0080572	congenital disorder of glycosylation Iw	skos:exactMatch	MIM:619714	Congenital disorder of glycosylation, type Iw, autosomal dominant	semapv:ManualMappingCuration	2022-01-27
DOID:0080573	congenital disorder of glycosylation Ix	skos:exactMatch	MIM:615597	Congenital disorder of glycosylation, type Ix	semapv:ManualMappingCuration	2014-09-09
DOID:0080574	congenital disorder of glycosylation Iy	skos:exactMatch	MIM:300934	Congenital disorder of glycosylation, type Iy	semapv:ManualMappingCuration	2017-02-28
DOID:0080575	Larsen-like syndrome B3GAT3 type	skos:exactMatch	MIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	semapv:ManualMappingCuration	2014-09-09
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	skos:exactMatch	MIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	semapv:ManualMappingCuration	2017-10-10
DOID:0080579	3-methylcrotonyl-CoA carboxylase 1 deficiency	skos:exactMatch	MIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0080580	3-methylcrotonyl-CoA carboxylase 2 deficiency	skos:exactMatch	MIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0080581	hyperekplexia 4	skos:exactMatch	MIM:618011	Hyperekplexia 4	semapv:ManualMappingCuration	2018-09-12
DOID:0080582	hypotrichosis 14	skos:exactMatch	MIM:618275	Hypotrichosis 14	semapv:ManualMappingCuration	2019-02-12
DOID:0080583	Wolfram syndrome, mitochondrial form	skos:exactMatch	MIM:598500	WOLFRAM SYNDROME, MITOCHONDRIAL FORM	semapv:ManualMappingCuration	2019-08-30
DOID:0080584	autosomal dominant Wolfram syndrome	skos:exactMatch	MIM:614296	Wolfram-like syndrome, autosomal dominant	semapv:ManualMappingCuration	2014-10-20
DOID:0080585	Van Maldergem syndrome 1	skos:exactMatch	MIM:601390	Van Maldergem syndrome 1	semapv:ManualMappingCuration	2014-10-20
DOID:0080586	Van Maldergem syndrome 2	skos:exactMatch	MIM:615546	Van Maldergem syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:0080587	congenital myasthenic syndrome 22	skos:exactMatch	MIM:616224	Myasthenic syndrome, congenital, 22	semapv:ManualMappingCuration	2017-07-11
DOID:0080588	agammaglobulinemia 5	skos:exactMatch	MIM:613506	?Agammaglobulinemia 5	semapv:ManualMappingCuration	2017-10-03
DOID:0080589	Klippel-Feil syndrome 1	skos:exactMatch	MIM:118100	Klippel-Feil syndrome 1, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0080590	Klippel-Feil syndrome 2	skos:exactMatch	MIM:214300	Klippel-Feil syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080591	Klippel-Feil syndrome 3	skos:exactMatch	MIM:613702	Klippel-Feil syndrome 3, autosomal dominant	semapv:ManualMappingCuration	2014-06-23
DOID:0080592	Klippel-Feil syndrome 4	skos:exactMatch	MIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism	semapv:ManualMappingCuration	2017-05-01
DOID:0080593	orofacial cleft 6	skos:exactMatch	MIM:608864	{Orofacial cleft 6}	semapv:ManualMappingCuration	2014-06-23
DOID:0080594	hyper IgE recurrent infection syndrome 2	skos:exactMatch	MIM:243700	Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections	semapv:ManualMappingCuration	2019-02-26
DOID:0080595	hyper IgE recurrent infection syndrome 3	skos:exactMatch	MIM:618282	Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections	semapv:ManualMappingCuration	2019-02-26
DOID:0080596	hyper IgE recurrent infection syndrome 4	skos:exactMatch	MIM:618523	Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections	semapv:ManualMappingCuration	2019-09-09
DOID:0080596	hyper IgE recurrent infection syndrome 4	skos:exactMatch	MIM:619752	Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections	semapv:ManualMappingCuration	2022-02-24
DOID:0080597	Kleefstra syndrome	skos:exactMatch	MIM:PS610253	Kleefstra syndrome 1	semapv:ManualMappingCuration	2019-03-20
DOID:0080598	Kleefstra syndrome 2	skos:exactMatch	MIM:617768	Kleefstra syndrome 2	semapv:ManualMappingCuration	2018-01-17
DOID:0080603	ankylosing spondylitis 1	skos:exactMatch	MIM:106300	{Spondyloarthropathy, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:0080604	ankylosing spondylitis 2	skos:exactMatch	MIM:183840	{Spondyloarthropathy, susceptibility to, 2}	semapv:ManualMappingCuration	2014-06-23
DOID:0080605	ankylosing spondylitis 3	skos:exactMatch	MIM:613238	{Spondyloarthropathy, susceptibility to, 3}	semapv:ManualMappingCuration	2014-06-23
DOID:0080606	anterior segment dysgenesis 1	skos:exactMatch	MIM:107250	Anterior segment dysgenesis 1, multiple subtypes	semapv:ManualMappingCuration	2017-10-03
DOID:0080607	anterior segment dysgenesis 2	skos:exactMatch	MIM:610256	Anterior segment dysgenesis 2, multiple subtypes	semapv:ManualMappingCuration	2020-02-18
DOID:0080608	anterior segment dysgenesis 3	skos:exactMatch	MIM:601631	Anterior segment dysgenesis 3, multiple subtypes	semapv:ManualMappingCuration	2017-10-03
DOID:0080609	anterior segment dysgenesis 4	skos:exactMatch	MIM:137600	Anterior segment dysgenesis 4	semapv:ManualMappingCuration	2017-10-03
DOID:0080610	anterior segment dysgenesis 5	skos:exactMatch	MIM:604229	Anterior segment dysgenesis 5, multiple subtypes	semapv:ManualMappingCuration	2020-02-18
DOID:0080611	anterior segment dysgenesis 6	skos:exactMatch	MIM:617315	Anterior segment dysgenesis 6, multiple subtypes	semapv:ManualMappingCuration	2017-02-14
DOID:0080612	anterior segment dysgenesis 7	skos:exactMatch	MIM:269400	Anterior segment dysgenesis 7, with sclerocornea	semapv:ManualMappingCuration	2017-03-01
DOID:0080613	anterior segment dysgenesis 8	skos:exactMatch	MIM:617319	Anterior segment dysgenesis 8	semapv:ManualMappingCuration	2017-02-14
DOID:0080614	oculocutaneous albinism type VI	skos:exactMatch	MIM:113750	[Skin/hair/eye pigmentation 4, fair/dark skin]	semapv:ManualMappingCuration	2014-10-16
DOID:0080620	familial glucocorticoid deficiency	skos:exactMatch	MIM:PS202200	Glucocorticoid deficiency, due to ACTH unresponsiveness	semapv:ManualMappingCuration	2020-03-05
DOID:0080621	glucocorticoid deficiency 1	skos:exactMatch	MIM:202200	Glucocorticoid deficiency, due to ACTH unresponsiveness	semapv:ManualMappingCuration	2017-10-03
DOID:0080622	peroxisome biogenesis disorder 2B	skos:exactMatch	MIM:202370	Peroxisome biogenesis disorder 2B	semapv:ManualMappingCuration	2014-06-23
DOID:0080623	Heimler syndrome 1	skos:exactMatch	MIM:234580	Heimler syndrome 1	semapv:ManualMappingCuration	2017-10-10
DOID:0080624	Heimler syndrome 2	skos:exactMatch	MIM:616617	Heimler syndrome 2	semapv:ManualMappingCuration	2015-11-11
DOID:0080625	severe congenital neutropenia 1	skos:exactMatch	MIM:202700	Neutropenia, severe congenital 1, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0080626	corticosterone methyloxidase deficiency 1	skos:exactMatch	MIM:203400	Hypoaldosteronism, congenital, due to CMO I deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0080627	alopecia-mental retardation syndrome	skos:exactMatch	MIM:PS203650	?Alopecia-intellectual disability syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:0080628	alopecia-mental retardation syndrome 1	skos:exactMatch	MIM:203650	?Alopecia-intellectual disability syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080629	alopecia-mental retardation syndrome 2	skos:exactMatch	MIM:610422	Alopecia-intellectual disability syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080630	B-lymphoblastic leukemia/lymphoma	skos:exactMatch	MIM:176310	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	semapv:ManualMappingCuration	2014-10-20
DOID:0080631	Elsahy-Waters syndrome	skos:exactMatch	MIM:211380	Elsahy-Waters syndrome	semapv:ManualMappingCuration	2018-08-31
DOID:0080632	Fazio-Londe disease	skos:exactMatch	MIM:211500	?Fazio-Londe disease	semapv:ManualMappingCuration	2017-10-03
DOID:0080633	developmental cardiac valvular defect	skos:exactMatch	MIM:212093	Cardiac valvular dysplasia 1	semapv:ManualMappingCuration	
DOID:0080634	nanophthalmos	skos:exactMatch	MIM:PS600165	Nanophthalmos-1	semapv:ManualMappingCuration	2019-03-27
DOID:0080635	optic disc anomalies with retinal and/or macular dystrophy	skos:exactMatch	MIM:212550	Optic disc anomalies with retinal and/or macular dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0080636	syndromic microphthalmia	skos:exactMatch	MIM:PS309800	Microphthalmia, syndromic 1	semapv:ManualMappingCuration	2019-03-27
DOID:0080652	calcium oxalate nephrolithiasis	skos:exactMatch	MIM:PS167030	?Nephrolithiasis, calcium oxalate, 1	semapv:ManualMappingCuration	2018-01-04
DOID:0080654	uric acid urolithiasis	skos:exactMatch	MIM:191700	UROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2020-04-01
DOID:0080655	hypophosphatemic nephrolithiasis/osteoporosis	skos:exactMatch	MIM:PS612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	semapv:ManualMappingCuration	2019-03-28
DOID:0080661	nonsyndromic aplasia cutis congenita	skos:exactMatch	MIM:107600	?Aplasia cutis congenita, nonsyndromic	semapv:ManualMappingCuration	2017-10-10
DOID:0080662	atrial standstill 1	skos:exactMatch	MIM:108770	Atrial standstill, digenic (GJA5/SCN5A)	semapv:ManualMappingCuration	2017-10-03
DOID:0080663	atrial standstill 2	skos:exactMatch	MIM:615745	Atrial standstill 2	semapv:ManualMappingCuration	2014-10-16
DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma	skos:exactMatch	MIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	semapv:ManualMappingCuration	2017-10-03
DOID:0080665	warfarin resistance	skos:exactMatch	MIM:122700	Coumarin resistance	semapv:ManualMappingCuration	2017-10-03
DOID:0080669	posterior polymorphous corneal dystrophy 4	skos:exactMatch	MIM:618031	Corneal dystrophy, posterior polymorphous, 4	semapv:ManualMappingCuration	2018-07-10
DOID:0080670	Meesmann corneal dystrophy 1	skos:exactMatch	MIM:122100	Meesmann corneal dystrophy 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080671	Meesmann corneal dystrophy 2	skos:exactMatch	MIM:618767	Meesmann corneal dystrophy 2	semapv:ManualMappingCuration	2020-02-05
DOID:0080672	fibrochondrogenesis 1	skos:exactMatch	MIM:228520	Fibrochondrogenesis 1	semapv:ManualMappingCuration	2015-02-11
DOID:0080673	fibrochondrogenesis 2	skos:exactMatch	MIM:614524	Fibrochondrogenesis 2	semapv:ManualMappingCuration	2015-02-11
DOID:0080675	Stickler syndrome 2	skos:exactMatch	MIM:604841	Stickler syndrome, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0080676	Stickler syndrome 1	skos:exactMatch	MIM:108300	Stickler syndrome, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0080677	otospondylomegaepiphyseal dysplasia, autosomal dominant	skos:exactMatch	MIM:184840	Otospondylomegaepiphyseal dysplasia, autosomal dominant	semapv:ManualMappingCuration	2017-10-10
DOID:0080678	mucolipidosis III gamma	skos:exactMatch	MIM:252605	Mucolipidosis III gamma	semapv:ManualMappingCuration	2017-10-03
DOID:0080679	neuronal intestinal dysplasia type A	skos:exactMatch	MIM:243180	Visceral neuropathy, familial, 1, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0080680	neuronal intestinal dysplasia type B	skos:exactMatch	MIM:601223	NEURONAL INTESTINAL DYSPLASIA, TYPE B	semapv:ManualMappingCuration	2017-10-03
DOID:0080681	X-linked chronic idiopathic intestinal pseudo-obstruction	skos:exactMatch	MIM:300048	Congenital short bowel syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0080682	autosomal dominant familial visceral neuropathy	skos:exactMatch	MIM:609629	VISCERAL NEUROPATHY, FAMILIAL, 3, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	
DOID:0080683	nonsyndromic congenital nail disorder	skos:exactMatch	MIM:PS161050	Nail disorder, nonsyndromic congenital, 1	semapv:ManualMappingCuration	2019-03-27
DOID:0080686	tubular aggregate myopathy 2	skos:exactMatch	MIM:615883	Myopathy, tubular aggregate, 2	semapv:ManualMappingCuration	2020-06-18
DOID:0080687	reducing body myopathy 1B	skos:exactMatch	MIM:300718	Reducing body myopathy, X-linked 1b, with late childhood or adult onset	semapv:ManualMappingCuration	2017-10-03
DOID:0080688	mosaic variegated aneuploidy syndrome	skos:exactMatch	MIM:PS257300	Mosaic variegated aneuploidy syndrome 1	semapv:ManualMappingCuration	2019-03-21
DOID:0080689	mosaic variegated aneuploidy syndrome 3	skos:exactMatch	MIM:617598	Mosaic variegated aneuploidy syndrome 3	semapv:ManualMappingCuration	2017-12-06
DOID:0080691	Noonan syndrome-like disorder with loose anagen hair	skos:exactMatch	MIM:PS607721	Noonan syndrome-like with loose anagen hair 1	semapv:ManualMappingCuration	2019-03-21
DOID:0080692	Noonan syndrome-like disorder with loose anagen hair 1	skos:exactMatch	MIM:607721	Noonan syndrome-like with loose anagen hair 1	semapv:ManualMappingCuration	2014-06-23
DOID:0080693	Noonan syndrome-like disorder with loose anagen hair 2	skos:exactMatch	MIM:617506	Noonan syndrome-like disorder with loose anagen hair 2	semapv:ManualMappingCuration	2017-07-12
DOID:0080694	Galloway-Mowat syndrome	skos:exactMatch	MIM:PS251300	Galloway-Mowat syndrome 1	semapv:ManualMappingCuration	2019-03-20
DOID:0080695	Burn-McKeown syndrome	skos:exactMatch	MIM:608572	Burn-McKeown syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0080696	Winchester syndrome	skos:exactMatch	MIM:277950	Winchester syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0080697	Opitz GBBB syndrome	skos:exactMatch	MIM:300000	Opitz GBBB syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0080698	Teebi hypertelorism syndrome 1	skos:exactMatch	MIM:145420	Teebi hypertelorism syndrome 1	semapv:ManualMappingCuration	2014-06-23
DOID:0080700	caudal regression syndrome	skos:exactMatch	MIM:600145	Caudal regression syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0080715	developmental and epileptic encephalopathy 82	skos:exactMatch	MIM:618721	Developmental and epileptic encephalopathy 82	semapv:ManualMappingCuration	2019-12-30
DOID:0080716	infantile liver failure syndrome	skos:exactMatch	MIM:PS615438	?Infantile liver failure syndrome 1	semapv:ManualMappingCuration	2019-03-21
DOID:0080717	infantile liver failure syndrome 1	skos:exactMatch	MIM:615438	?Infantile liver failure syndrome 1	semapv:ManualMappingCuration	2015-07-06
DOID:0080718	GNE myopathy	skos:exactMatch	MIM:605820	Nonaka myopathy	semapv:ManualMappingCuration	2017-10-10
DOID:0080719	congenital myopathy 6	skos:exactMatch	MIM:605637	Congenital myopathy 6 with ophthalmoplegia	semapv:ManualMappingCuration	2017-10-03
DOID:0080720	autosomal dominant congenital deafness with onychodystrophy	skos:exactMatch	MIM:124480	Deafness, congenital, with onychodystrophy, autosomal dominant	semapv:ManualMappingCuration	2017-10-10
DOID:0080721	calvarial doughnut lesions with bone fragility	skos:exactMatch	MIM:126550	Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia	semapv:ManualMappingCuration	2019-05-28
DOID:0080722	Kenny-Caffey syndrome type 1	skos:exactMatch	MIM:244460	Kenny-Caffey syndrome, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080723	Kenny-Caffey syndrome type 2	skos:exactMatch	MIM:127000	Kenny-Caffey syndrome, type 2	semapv:ManualMappingCuration	2014-10-20
DOID:0080724	Kenny-Caffey syndrome	skos:exactMatch	MIM:PS127000	Kenny-Caffey syndrome, type 2	semapv:ManualMappingCuration	2019-03-21
DOID:0080725	BASAN syndrome	skos:exactMatch	MIM:129200	Basan syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0080726	Ehlers-Danlos syndrome classic type 2	skos:exactMatch	MIM:130010	Ehlers-Danlos syndrome, classic type, 2	semapv:ManualMappingCuration	2018-07-10
DOID:0080727	Ehlers-Danlos syndrome arthrochalasia type 1	skos:exactMatch	MIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080728	Ehlers-Danlos syndrome arthrochalasia type 2	skos:exactMatch	MIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	semapv:ManualMappingCuration	2020-03-13
DOID:0080729	brittle cornea syndrome 2	skos:exactMatch	MIM:614170	Brittle cornea syndrome 2	semapv:ManualMappingCuration	2014-09-02
DOID:0080730	Ehlers-Danlos syndrome cardiac valvular type	skos:exactMatch	MIM:225320	Ehlers-Danlos syndrome, cardiac valvular type	semapv:ManualMappingCuration	2017-10-03
DOID:0080731	Ehlers-Danlos syndrome classic-like 1	skos:exactMatch	MIM:606408	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080732	Ehlers-Danlos syndrome classic-like 2	skos:exactMatch	MIM:618000	Ehlers-Danlos syndrome, classic-like, 2	semapv:ManualMappingCuration	2018-07-10
DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type	skos:exactMatch	MIM:225410	Ehlers-Danlos syndrome, dermatosparaxis type	semapv:ManualMappingCuration	2017-10-03
DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	skos:exactMatch	MIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080735	Ehlers-Danlos syndrome kyphoscoliotic type 2	skos:exactMatch	MIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	semapv:ManualMappingCuration	2014-09-09
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	skos:exactMatch	MIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2	skos:exactMatch	MIM:615539	Ehlers-Danlos syndrome, musculocontractural type 2	semapv:ManualMappingCuration	2014-09-09
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	skos:exactMatch	MIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080739	Ehlers-Danlos syndrome spondylodysplastic type 3	skos:exactMatch	MIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0080746	Sweet syndrome	skos:exactMatch	MIM:608068	Neutrophilic dermatosis, acute febrile	semapv:ManualMappingCuration	
DOID:0080751	keratosis pilaris atrophicans	skos:exactMatch	MIM:604093	?Keratosis pilaris atrophicans	semapv:ManualMappingCuration	2017-10-10
DOID:0080754	X-linked keratosis follicularis spinulosa decalvans	skos:exactMatch	MIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0080755	autosomal dominant keratosis follicularis spinulosa decalvans	skos:exactMatch	MIM:612843	KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2020-08-21
DOID:0080756	atrophoderma vermiculata	skos:exactMatch	MIM:209700	ATROPHODERMA VERMICULATA	semapv:ManualMappingCuration	2020-08-21
DOID:0080757	Fanconi renotubular syndrome 1	skos:exactMatch	MIM:134600	Fanconi renotubular syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080758	Fanconi renotubular syndrome 2	skos:exactMatch	MIM:613388	?Fanconi renotubular syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080759	Fanconi renotubular syndrome 3	skos:exactMatch	MIM:615605	?Fanconi renotubular syndrome 3	semapv:ManualMappingCuration	2014-10-20
DOID:0080760	Fanconi renotubular syndrome 4	skos:exactMatch	MIM:616026	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young	semapv:ManualMappingCuration	2015-11-11
DOID:0080761	Fanconi renotubular syndrome 5	skos:exactMatch	MIM:618913	Fanconi renotubular syndrome 5	semapv:ManualMappingCuration	2020-06-16
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z	skos:exactMatch	MIM:617232	Muscular dystrophy, limb-girdle, autosomal recessive 21	semapv:ManualMappingCuration	2017-03-13
DOID:0080764	hereditary diffuse gastric cancer	skos:exactMatch	MIM:137215	Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate	semapv:ManualMappingCuration	2017-10-03
DOID:0080765	autosomal recessive intellectual developmental disorder 72	skos:exactMatch	MIM:618665	Intellectual developmental disorder, autosomal recessive 72	semapv:ManualMappingCuration	2019-11-25
DOID:0080766	erythrokeratodermia variabilis et progressiva 6	skos:exactMatch	MIM:618531	Erythrokeratodermia variabilis et progressiva 6	semapv:ManualMappingCuration	2019-09-03
DOID:0080769	early-onset vitamin B6-dependent epilepsy 1	skos:exactMatch	MIM:617290	Epilepsy, early-onset, 1, vitamin B6-dependent	semapv:ManualMappingCuration	2017-03-07
DOID:0080770	autosomal dominant beta thalassemia	skos:exactMatch	MIM:603902	Thalassemia-beta, dominant inclusion-body	semapv:ManualMappingCuration	2017-10-03
DOID:0080771	beta-thalassemia major	skos:exactMatch	MIM:187550	THALASSEMIA, BETA+, SILENT ALLELE	semapv:ManualMappingCuration	2018-08-22
DOID:0080773	delta beta-thalassemia	skos:exactMatch	MIM:141749	Hereditary persistence of fetal hemoglobin	semapv:ManualMappingCuration	2014-10-20
DOID:0080776	partial androgen insensitivity syndrome	skos:exactMatch	MIM:312300	Androgen insensitivity, partial, with or without breast cancer	semapv:ManualMappingCuration	2017-10-03
DOID:0080778	transient infantile liver failure	skos:exactMatch	MIM:613070	Liver failure, transient infantile	semapv:ManualMappingCuration	2014-06-23
DOID:0080784	urinary tract infection	skos:exactMatch	MIM:603806	URINARY TRACT INFECTIONS, RECURRENT, SUSCEPTIBILITY TO	semapv:ManualMappingCuration	2022-11-21
DOID:0080785	Brown-Vialetto-Van Laere syndrome 1	skos:exactMatch	MIM:211530	Brown-Vialetto-Van Laere syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080786	Brown-Vialetto-Van Laere syndrome 2	skos:exactMatch	MIM:614707	Brown-Vialetto-Van Laere syndrome 2	semapv:ManualMappingCuration	2014-09-02
DOID:0080787	proximal symphalangism 1	skos:exactMatch	MIM:185800	Symphalangism, proximal, 1A	semapv:ManualMappingCuration	2017-10-03
DOID:0080788	proximal symphalangism 2	skos:exactMatch	MIM:615298	Symphalangism, proximal, 1B	semapv:ManualMappingCuration	2015-07-07
DOID:0080789	Treacher Collins syndrome 1	skos:exactMatch	MIM:154500	Treacher Collins syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080790	Treacher Collins syndrome 2	skos:exactMatch	MIM:613717	Treacher Collins syndrome 2	semapv:ManualMappingCuration	2014-06-23
DOID:0080791	Treacher Collins syndrome 3	skos:exactMatch	MIM:248390	Treacher Collins syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:0080792	Treacher Collins syndrome 4	skos:exactMatch	MIM:618939	Treacher-Collins syndrome 4	semapv:ManualMappingCuration	2020-07-07
DOID:0080801	autosomal dominant craniometaphyseal dysplasia	skos:exactMatch	MIM:123000	Craniometaphyseal dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0080802	autosomal recessive craniometaphyseal dysplasia	skos:exactMatch	MIM:218400	Craniometaphyseal dysplasia, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0080803	cranioectodermal dysplasia 1	skos:exactMatch	MIM:218330	Cranioectodermal dysplasia 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080804	cranioectodermal dysplasia 2	skos:exactMatch	MIM:613610	Cranioectodermal dysplasia 2	semapv:ManualMappingCuration	2017-07-25
DOID:0080805	cranioectodermal dysplasia 3	skos:exactMatch	MIM:614099	?Cranioectodermal dysplasia 3	semapv:ManualMappingCuration	2014-09-02
DOID:0080806	cranioectodermal dysplasia 4	skos:exactMatch	MIM:614378	Cranioectodermal dysplasia 4	semapv:ManualMappingCuration	2014-09-02
DOID:0080807	autosomal dominant craniodiaphyseal dysplasia	skos:exactMatch	MIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	semapv:ManualMappingCuration	2014-10-20
DOID:0080828	VEXAS syndrome	skos:exactMatch	MIM:301054	VEXAS syndrome, somatic	semapv:ManualMappingCuration	2020-11-13
DOID:0080833	laryngomalacia	skos:exactMatch	MIM:150280	LARYNGOMALACIA	semapv:ManualMappingCuration	2020-12-02
DOID:0080836	growth hormone insensitivity syndrome with immune dysregulation 1	skos:exactMatch	MIM:245590	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0080837	growth hormone insensitivity syndrome with immune dysregulation 2	skos:exactMatch	MIM:618985	Growth hormone insensitivity with immune dysregulation 2, autosomal dominant	semapv:ManualMappingCuration	2020-09-09
DOID:0080839	X-linked warfarin sensitivity	skos:exactMatch	MIM:301052	{Warfarin sensitivity}	semapv:ManualMappingCuration	2020-11-16
DOID:0080840	optic atrophy 12	skos:exactMatch	MIM:618977	Optic atrophy 12	semapv:ManualMappingCuration	2020-08-17
DOID:0080844	omodysplasia 1	skos:exactMatch	MIM:258315	Omodysplasia 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080845	omodysplasia 2	skos:exactMatch	MIM:164745	Omodysplasia 2	semapv:ManualMappingCuration	2018-08-21
DOID:0080849	ocular motor apraxia, Cogan type	skos:exactMatch	MIM:257550	Oculomotor apraxia, congenital, Cogan-type	semapv:ManualMappingCuration	2017-10-03
DOID:0080857	primary ovarian insufficiency 1	skos:exactMatch	MIM:311360	Premature ovarian failure 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080858	primary ovarian insufficiency 2A	skos:exactMatch	MIM:300511	?Premature ovarian failure 2A	semapv:ManualMappingCuration	2017-10-03
DOID:0080859	primary ovarian insufficiency 2B	skos:exactMatch	MIM:300604	?Premature ovarian failure 2B	semapv:ManualMappingCuration	2017-10-03
DOID:0080860	primary ovarian insufficiency 3	skos:exactMatch	MIM:608996	Premature ovarian failure 3	semapv:ManualMappingCuration	2017-10-03
DOID:0080862	primary ovarian insufficiency 5	skos:exactMatch	MIM:611548	Premature ovarian failure 5	semapv:ManualMappingCuration	2017-10-03
DOID:0080863	primary ovarian insufficiency 6	skos:exactMatch	MIM:612310	Premature ovarian failure 6	semapv:ManualMappingCuration	2017-10-03
DOID:0080864	primary ovarian insufficiency 7	skos:exactMatch	MIM:612964	Premature ovarian failure 7	semapv:ManualMappingCuration	2017-10-03
DOID:0080865	primary ovarian insufficiency 8	skos:exactMatch	MIM:615723	Premature ovarian failure 8	semapv:ManualMappingCuration	2014-09-09
DOID:0080866	primary ovarian insufficiency 9	skos:exactMatch	MIM:615724	Premature ovarian failure 9	semapv:ManualMappingCuration	2014-09-09
DOID:0080867	primary ovarian insufficiency 10	skos:exactMatch	MIM:612885	?Premature ovarian failure 10	semapv:ManualMappingCuration	2016-09-12
DOID:0080868	primary ovarian insufficiency 11	skos:exactMatch	MIM:616946	Premature ovarian failure 11	semapv:ManualMappingCuration	2016-06-13
DOID:0080869	primary ovarian insufficiency 12	skos:exactMatch	MIM:616947	?Premature ovarian failure 12	semapv:ManualMappingCuration	2016-06-13
DOID:0080870	primary ovarian insufficiency 13	skos:exactMatch	MIM:617442	?Premature ovarian failure 13	semapv:ManualMappingCuration	2017-06-21
DOID:0080871	primary ovarian insufficiency 14	skos:exactMatch	MIM:618014	Premature ovarian failure 14	semapv:ManualMappingCuration	2019-01-16
DOID:0080872	primary ovarian insufficiency 15	skos:exactMatch	MIM:618096	Premature ovarian failure 15	semapv:ManualMappingCuration	2019-12-30
DOID:0080873	primary ovarian insufficiency 16	skos:exactMatch	MIM:618723	?Premature ovarian failure 16	semapv:ManualMappingCuration	2019-12-30
DOID:0080874	primary ovarian insufficiency 17	skos:exactMatch	MIM:619146	?Premature ovarian failure 17	semapv:ManualMappingCuration	2021-01-04
DOID:0080884	vitamin D-dependent rickets type 2A	skos:exactMatch	MIM:277440	Rickets, vitamin D-resistant, type IIA	semapv:ManualMappingCuration	2017-10-03
DOID:0080885	vitamin D-dependent rickets type 2B	skos:exactMatch	MIM:600785	VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR	semapv:ManualMappingCuration	2018-08-21
DOID:0080886	vitamin D-dependent rickets type 1A	skos:exactMatch	MIM:264700	Vitamin D-dependent rickets, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0080887	vitamin D-dependent rickets type 1B	skos:exactMatch	MIM:600081	Rickets due to defect in vitamin D 25-hydroxylation deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0080893	Bainbridge-Ropers syndrome	skos:exactMatch	MIM:615485	Bainbridge-Ropers syndrome	semapv:ManualMappingCuration	2015-06-30
DOID:0080898	cerebellofaciodental syndrome	skos:exactMatch	MIM:616202	Cerebellofaciodental syndrome	semapv:ManualMappingCuration	2015-03-03
DOID:0080907	Cockayne syndrome A	skos:exactMatch	MIM:216400	Cockayne syndrome, type A	semapv:ManualMappingCuration	2017-09-14
DOID:0080908	Cockayne syndrome B	skos:exactMatch	MIM:133540	Cockayne syndrome, type B	semapv:ManualMappingCuration	2017-09-14
DOID:0080910	cerebrooculofacioskeletal syndrome	skos:exactMatch	MIM:PS214150	Cerebrooculofacioskeletal syndrome 1	semapv:ManualMappingCuration	2019-03-26
DOID:0080911	cerebrooculofacioskeletal syndrome 1	skos:exactMatch	MIM:214150	Cerebrooculofacioskeletal syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080912	cerebrooculofacioskeletal syndrome 2	skos:exactMatch	MIM:610756	?Cerebrooculofacioskeletal syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080913	cerebrooculofacioskeletal syndrome 3	skos:exactMatch	MIM:616570	Cerebrooculofacioskeletal syndrome 3	semapv:ManualMappingCuration	2017-10-10
DOID:0080914	cerebrooculofacioskeletal syndrome 4	skos:exactMatch	MIM:610758	Cerebrooculofacioskeletal syndrome 4	semapv:ManualMappingCuration	2017-10-03
DOID:0080922	bilateral frontoparietal polymicrogyria	skos:exactMatch	MIM:606854	Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal)	semapv:ManualMappingCuration	2017-10-03
DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria	skos:exactMatch	MIM:612691	?Polymicrogyria, bilateral temporooccipital	semapv:ManualMappingCuration	2017-10-03
DOID:0080924	bilateral perisylvian polymicrogyria	skos:exactMatch	MIM:300388	Polymicrogyria, bilateral perisylvian	semapv:ManualMappingCuration	2017-10-03
DOID:0080924	bilateral perisylvian polymicrogyria	skos:exactMatch	MIM:615752	Cortical dysplasia, complex, with other brain malformations 14B, (bilateral perisylvian)	semapv:ManualMappingCuration	2015-07-07
DOID:0080925	cytochrome P450 oxidoreductase deficiency	skos:exactMatch	MIM:613571	Disordered steroidogenesis due to cytochrome P450 oxidoreductase	semapv:ManualMappingCuration	2017-10-03
DOID:0080926	7q11.23 duplication syndrome	skos:exactMatch	MIM:609757	Chromosome 7q11.23 duplication syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0080930	primary localized cutaneous amyloidosis 1	skos:exactMatch	MIM:105250	Amyloidosis, primary localized cutaneous, 1	semapv:ManualMappingCuration	2017-10-10
DOID:0080931	primary localized cutaneous amyloidosis 2	skos:exactMatch	MIM:613955	?Amyloidosis, primary localized cutaneous, 2	semapv:ManualMappingCuration	2014-09-02
DOID:0080932	primary localized cutaneous amyloidosis 3	skos:exactMatch	MIM:617920	Amyloidosis, primary localized cutaneous, 3	semapv:ManualMappingCuration	2018-04-11
DOID:0080939	hereditary angioedema type I	skos:exactMatch	MIM:106100	Angioedema, hereditary, 1 and 2	semapv:ManualMappingCuration	2018-04-12
DOID:0080940	hereditary angioedema type III	skos:exactMatch	MIM:610618	Angioedema, hereditary, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0080941	acquired angioedema	skos:exactMatch	MIM:300909	{Angioedema induced by ACE inhibitors, susceptibility to}	semapv:ManualMappingCuration	2017-10-10
DOID:0080942	anauxetic dysplasia	skos:exactMatch	MIM:PS607095	Anauxetic dysplasia 1	semapv:ManualMappingCuration	2020-04-24
DOID:0080943	46,XX sex reversal 5	skos:exactMatch	MIM:618901	46XX sex reversal 5	semapv:ManualMappingCuration	2020-06-04
DOID:0080944	familial Behcet-like autoinflammatory syndrome 1	skos:exactMatch	MIM:616744	Autoinflammatory syndrome, familial, Behcet-like 1	semapv:ManualMappingCuration	2016-02-09
DOID:0080945	abdominal obesity-metabolic syndrome 4	skos:exactMatch	MIM:618620	Abdominal obesity-metabolic syndrome 4	semapv:ManualMappingCuration	2019-10-11
DOID:0080946	retinal dystrophy with leukodystrophy	skos:exactMatch	MIM:618863	Retinal dystrophy with leukodystrophy	semapv:ManualMappingCuration	2020-08-14
DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	skos:exactMatch	MIM:618929	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	semapv:ManualMappingCuration	2020-09-03
DOID:0080950	alopecia-mental retardation syndrome 4	skos:exactMatch	MIM:618840	Alopecia-intellectual disability syndrome 4	semapv:ManualMappingCuration	2020-04-08
DOID:0080951	alopecia-mental retardation syndrome 3	skos:exactMatch	MIM:613930	Alopecia-intellectual disability syndrome 3	semapv:ManualMappingCuration	2014-06-23
DOID:0080952	AMED syndrome	skos:exactMatch	MIM:619151	AMED syndrome, digenic	semapv:ManualMappingCuration	2021-02-09
DOID:0080953	amelogenesis imperfecta type 1J	skos:exactMatch	MIM:617297	Amelogenesis imperfecta, type IJ	semapv:ManualMappingCuration	2017-02-14
DOID:0080954	arthrogryposis multiplex congenita	skos:exactMatch	MIM:PS617468	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	semapv:ManualMappingCuration	
DOID:0080957	primary hypoalphalipoproteinemia 1	skos:exactMatch	MIM:604091	HDL deficiency, familial, 1	semapv:ManualMappingCuration	2018-07-26
DOID:0080958	primary hypoalphalipoproteinemia 2	skos:exactMatch	MIM:618463	Hypoalphalipoproteinemia, primary, 2	semapv:ManualMappingCuration	2014-09-02
DOID:0080958	primary hypoalphalipoproteinemia 2	skos:exactMatch	MIM:619836	Hypoalphalipoproteinemia, primary, 2, intermediate	semapv:ManualMappingCuration	2022-04-21
DOID:0080959	arrhythmogenic right ventricular dysplasia 14	skos:exactMatch	MIM:618920	Arrhythmogenic right ventricular dysplasia 14	semapv:ManualMappingCuration	2020-06-24
DOID:0080960	amelogenesis imperfecta type 2A6	skos:exactMatch	MIM:617217	Amelogenesis imperfecta, hypomaturation type, IIA6	semapv:ManualMappingCuration	2017-02-14
DOID:0080962	anauxetic dysplasia 2	skos:exactMatch	MIM:617396	Anauxetic dysplasia 2	semapv:ManualMappingCuration	2017-06-09
DOID:0080963	anauxetic dysplasia 3	skos:exactMatch	MIM:618853	Anauxetic dysplasia 3	semapv:ManualMappingCuration	2020-04-24
DOID:0080964	intracranial berry aneurysm 1	skos:exactMatch	MIM:105800	Aneurysm, intracranial berry, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080965	intracranial berry aneurysm 2	skos:exactMatch	MIM:608542	Aneurysm, intracranial berry, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0080966	intracranial berry aneurysm 3	skos:exactMatch	MIM:609122	Aneurysm, intracranial berry, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0080967	intracranial berry aneurysm 4	skos:exactMatch	MIM:610213	Aneurysm, intracranial berry, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0080968	intracranial berry aneurysm 5	skos:exactMatch	MIM:300870	Aneurysm, intracranial berry, 5	semapv:ManualMappingCuration	2018-08-22
DOID:0080969	intracranial berry aneurysm 6	skos:exactMatch	MIM:611892	{Aneurysm, intracranial berry, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:0080970	intracranial berry aneurysm 7	skos:exactMatch	MIM:612161	Aneurysm, intracranial berry, 7	semapv:ManualMappingCuration	2017-10-03
DOID:0080971	intracranial berry aneurysm 8	skos:exactMatch	MIM:612162	Aneurysm, intracranial berry, 8	semapv:ManualMappingCuration	2017-10-03
DOID:0080972	intracranial berry aneurysm 9	skos:exactMatch	MIM:612586	{Aneurysm, intracranial berry, 9}	semapv:ManualMappingCuration	2017-10-03
DOID:0080973	intracranial berry aneurysm 10	skos:exactMatch	MIM:612587	{Aneurysm, intracranial berry, 10}	semapv:ManualMappingCuration	2017-10-03
DOID:0080974	intracranial berry aneurysm 11	skos:exactMatch	MIM:614252	Aneurysm, intracranial berry, 11	semapv:ManualMappingCuration	2017-10-03
DOID:0080975	intracranial berry aneurysm 12	skos:exactMatch	MIM:618734	?Aneurysm, intracranial berry, 12	semapv:ManualMappingCuration	2020-01-13
DOID:0080977	aortic valve disease 3	skos:exactMatch	MIM:618496	Aortic valve disease 3	semapv:ManualMappingCuration	2019-07-15
DOID:0080978	arthrogryposis multiplex congenita-1	skos:exactMatch	MIM:617468	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	semapv:ManualMappingCuration	2017-06-12
DOID:0080979	arthrogryposis multiplex congenita-3	skos:exactMatch	MIM:618484	Arthrogryposis multiplex congenita 3, myogenic type	semapv:ManualMappingCuration	2019-08-13
DOID:0080980	arthrogryposis multiplex congenita-4	skos:exactMatch	MIM:618766	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	semapv:ManualMappingCuration	2020-03-12
DOID:0080981	arthrogryposis multiplex congenita-5	skos:exactMatch	MIM:618947	Arthrogryposis multiplex congenita 5	semapv:ManualMappingCuration	2020-08-03
DOID:0080982	X-linked mental retardation-hypotonic facies syndrome-1	skos:exactMatch	MIM:309580	Intellectual disability-hypotonic facies syndrome, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0080984	X-linked intellectual developmental disorder 109	skos:exactMatch	MIM:309548	Intellectual developmental disorder, X-linked 109	semapv:ManualMappingCuration	2017-10-03
DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type	skos:exactMatch	MIM:309520	Lujan-Fryns syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0080986	Ehlers-Danlos syndrome periodontal type 1	skos:exactMatch	MIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0080987	Ehlers-Danlos syndrome periodontal type 2	skos:exactMatch	MIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	semapv:ManualMappingCuration	2017-03-06
DOID:0080988	pretibial dystrophic epidermolysis bullosa	skos:exactMatch	MIM:131850	Epidermolysis bullosa, pretibial	semapv:ManualMappingCuration	2017-10-03
DOID:0080990	King Denborough syndrome	skos:exactMatch	MIM:619542	King-Denborough syndrome	semapv:ManualMappingCuration	2024-02-28
DOID:0080991	congenital myopathy 1B	skos:exactMatch	MIM:255320	Congenital myopathy 1B, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0081000	Cowden syndrome 4	skos:exactMatch	MIM:615107	Cowden syndrome 4	semapv:ManualMappingCuration	2018-08-06
DOID:0081001	Cowden syndrome 5	skos:exactMatch	MIM:615108	Cowden syndrome 5	semapv:ManualMappingCuration	2017-03-01
DOID:0081002	Cowden syndrome 6	skos:exactMatch	MIM:615109	Cowden syndrome 6	semapv:ManualMappingCuration	2018-04-16
DOID:0081003	Cowden syndrome 7	skos:exactMatch	MIM:616858	?Cowden syndrome 7	semapv:ManualMappingCuration	2017-03-01
DOID:0081007	RNASET2-deficient cystic leukoencephalopathy	skos:exactMatch	MIM:612951	Leukoencephalopathy, cystic, without megalencephaly	semapv:ManualMappingCuration	2017-10-03
DOID:0081008	intellectual developmental disorder with cardiac arrhythmia	skos:exactMatch	MIM:617173	Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	semapv:ManualMappingCuration	2017-04-28
DOID:0081009	Bardet-Biedl syndrome 20	skos:exactMatch	MIM:619471	Bardet-Biedl syndrome 20	semapv:ManualMappingCuration	2021-08-06
DOID:0081010	Bardet-Biedl syndrome 21	skos:exactMatch	MIM:617406	Bardet-Biedl syndrome 21	semapv:ManualMappingCuration	2017-10-10
DOID:0081011	Bardet-Biedl syndrome 22	skos:exactMatch	MIM:617119	Bardet-Biedl syndrome 22	semapv:ManualMappingCuration	2017-02-24
DOID:0081015	congenital fibrosis of the extraocular muscles 1	skos:exactMatch	MIM:135700	Fibrosis of extraocular muscles, congenital, 1	semapv:ManualMappingCuration	2015-10-27
DOID:0081016	congenital fibrosis of the extraocular muscles 2	skos:exactMatch	MIM:602078	Fibrosis of extraocular muscles, congenital, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0081017	congenital fibrosis of the extraocular muscles 3A	skos:exactMatch	MIM:600638	Fibrosis of extraocular muscles, congenital, 3A	semapv:ManualMappingCuration	2017-10-03
DOID:0081019	congenital fibrosis of the extraocular muscles 3C	skos:exactMatch	MIM:609384	Fibrosis of extraocular muscles, congenital, 3C	semapv:ManualMappingCuration	2018-08-21
DOID:0081020	congenital fibrosis of the extraocular muscles 5	skos:exactMatch	MIM:616219	Fibrosis of extraocular muscles, congenital, 5	semapv:ManualMappingCuration	2017-02-16
DOID:0081021	Tukel syndrome	skos:exactMatch	MIM:609428	Tukel syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0081022	retinal cone dystrophy 3B	skos:exactMatch	MIM:610356	Retinal cone dystrophy 3B	semapv:ManualMappingCuration	2017-10-03
DOID:0081023	retinal cone dystrophy 4	skos:exactMatch	MIM:610478	Retinal cone dystrophy 4	semapv:ManualMappingCuration	2017-10-03
DOID:0081024	retinal cone dystrophy 1	skos:exactMatch	MIM:180020	?Retinal cone dystrophy-1	semapv:ManualMappingCuration	2017-10-03
DOID:0081025	retinal cone dystrophy 3A	skos:exactMatch	MIM:610024	Achromatopsia 6	semapv:ManualMappingCuration	2017-10-03
DOID:0081030	central conducting lymphatic anomaly	skos:exactMatch	MIM:617300	Lymphatic malformation 7	semapv:ManualMappingCuration	2017-04-27
DOID:0081034	glutatione synthetase deficiency with 5-oxoprolinuria	skos:exactMatch	MIM:266130	Anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient	semapv:ManualMappingCuration	2017-10-03
DOID:0081043	fetal akinesia deformation sequence syndrome X-linked	skos:exactMatch	MIM:300073	FETAL AKINESIA SYNDROME, X-LINKED	semapv:ManualMappingCuration	
DOID:0081044	frontonasal dysplasia	skos:exactMatch	MIM:PS136760	Frontonasal dysplasia 1	semapv:ManualMappingCuration	2019-03-19
DOID:0081045	frontonasal dysplasia 1	skos:exactMatch	MIM:136760	Frontonasal dysplasia 1	semapv:ManualMappingCuration	2017-10-10
DOID:0081046	frontonasal dysplasia 2	skos:exactMatch	MIM:613451	Frontonasal dysplasia 2	semapv:ManualMappingCuration	2017-10-10
DOID:0081047	frontonasal dysplasia 3	skos:relatedMatch	MIM:613456	Frontonasal dysplasia 3	semapv:ManualMappingCuration	2017-10-10
DOID:0081048	congenital limbs-face contractures-hypotonia-developmental delay syndrome	skos:exactMatch	MIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	semapv:ManualMappingCuration	2016-07-14
DOID:0081051	microcephaly, growth deficiency, seizures, and brain malformations	skos:exactMatch	MIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	semapv:ManualMappingCuration	2019-03-12
DOID:0081059	X-linked central diabetes insipidus	skos:exactMatch	MIM:304900	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, X-LINKED	semapv:ManualMappingCuration	2018-08-21
DOID:0081060	X-linked nephrogenic diabetes insipidus	skos:exactMatch	MIM:304800	Diabetes insipidus, nephrogenic, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0081061	nephrogenic diabetes insipidus type 2	skos:exactMatch	MIM:125800	Diabetes insipidus, nephrogenic, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0081063	DICER1 syndrome	skos:exactMatch	MIM:601200	Pleuropulmonary blastoma	semapv:ManualMappingCuration	2017-10-03
DOID:0081072	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	skos:exactMatch	MIM:PS213980	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	semapv:ManualMappingCuration	2014-10-20
DOID:0081073	Teebi hypertelorism syndrome	skos:exactMatch	MIM:PS145420	Teebi hypertelorism syndrome 1	semapv:ManualMappingCuration	2022-06-02
DOID:0081074	Teebi hypertelorism syndrome 2	skos:exactMatch	MIM:619736	Teebi hypertelorism syndrome 2	semapv:ManualMappingCuration	2022-02-02
DOID:0081075	Marsili syndrome	skos:exactMatch	MIM:147430	?Marsili syndrome	semapv:ManualMappingCuration	
DOID:0081077	ectodermal dysplasia and immune deficiency	skos:exactMatch	MIM:PS300291	Ectodermal dysplasia and immunodeficiency 1	semapv:ManualMappingCuration	2021-02-12
DOID:0081078	ectodermal dysplasia and immunodeficiency 1	skos:exactMatch	MIM:300291	Ectodermal dysplasia and immunodeficiency 1	semapv:ManualMappingCuration	2017-10-03
DOID:0081079	ectodermal dysplasia and immunodeficiency 2	skos:exactMatch	MIM:612132	Ectodermal dysplasia and immunodeficiency 2	semapv:ManualMappingCuration	2017-10-03
DOID:0081097	Rafiq syndrome	skos:exactMatch	MIM:614202	Rafiq syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:0081098	autosomal recessive intellectual developmental disorder 13	skos:exactMatch	MIM:613192	Intellectual developmental disorder, autosomal recessive 13	semapv:ManualMappingCuration	2017-10-03
DOID:0081099	neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	skos:exactMatch	MIM:615286	Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	semapv:ManualMappingCuration	2014-09-09
DOID:0081100	spastic paraplegia with deafness	skos:exactMatch	MIM:312910	SPASTIC PARAPARESIS AND DEAFNESS	semapv:ManualMappingCuration	
DOID:0081101	nonautoimmune hyperthyroidism	skos:exactMatch	MIM:609152	Hyperthyroidism, nonautoimmune	semapv:ManualMappingCuration	2017-10-03
DOID:0081102	familial gestational hyperthyroidism	skos:exactMatch	MIM:603373	Hyperthyroidism, familial gestational	semapv:ManualMappingCuration	2017-10-03
DOID:0081104	hot water epilepsy	skos:exactMatch	MIM:PS613339	Epilepsy, hot water, 1	semapv:ManualMappingCuration	2019-03-26
DOID:0081106	hot water epilepsy 1	skos:exactMatch	MIM:613339	Epilepsy, hot water, 1	semapv:ManualMappingCuration	2014-06-23
DOID:0081107	hot water epilepsy 2	skos:exactMatch	MIM:613340	Epilepsy, hot water, 2	semapv:ManualMappingCuration	2014-06-23
DOID:0081108	keratosis palmoplantaris striata 1	skos:exactMatch	MIM:148700	Keratosis palmoplantaris striata I, AD	semapv:ManualMappingCuration	2017-10-03
DOID:0081109	keratosis palmoplantaris striata 2	skos:exactMatch	MIM:612908	Keratosis palmoplantaris striata II	semapv:ManualMappingCuration	2017-10-03
DOID:0081110	keratosis palmoplantaris striata 3	skos:exactMatch	MIM:607654	Keratosis palmoplantaris striata III	semapv:ManualMappingCuration	2017-10-03
DOID:0081111	osteosclerotic metaphyseal dysplasia	skos:exactMatch	MIM:615198	Osteosclerotic metaphyseal dysplasia	semapv:ManualMappingCuration	2018-05-23
DOID:0081112	Baraitser-Winter syndrome 1	skos:exactMatch	MIM:243310	Baraitser-Winter syndrome 1	semapv:ManualMappingCuration	2014-10-20
DOID:0081113	Baraitser-Winter syndrome 2	skos:exactMatch	MIM:614583	Baraitser-Winter syndrome 2	semapv:ManualMappingCuration	2014-09-02
DOID:0081114	benign familial infantile seizures 1	skos:exactMatch	MIM:601764	Seizures, benign familial infantile, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0081115	benign familial infantile seizures 2	skos:exactMatch	MIM:605751	Seizures, benign familial infantile, 2	semapv:ManualMappingCuration	2014-06-23
DOID:0081116	benign familial infantile seizures 3	skos:exactMatch	MIM:607745	Seizures, benign familial infantile, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0081117	benign familial infantile seizures 4	skos:exactMatch	MIM:612627	Seizures, benign familial infantile, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0081118	benign familial infantile seizures 5	skos:exactMatch	MIM:617080	Seizures, benign familial infantile, 5	semapv:ManualMappingCuration	2016-09-12
DOID:0081119	benign familial infantile seizures 6	skos:exactMatch	MIM:610353	Epilepsy, nocturnal frontal lobe, type 4	semapv:ManualMappingCuration	2022-07-27
DOID:0081121	inclusion body myopathy and brain white matter abnormalities	skos:exactMatch	MIM:619733	Inclusion body myopathy and brain white matter abnormalities	semapv:ManualMappingCuration	2022-03-18
DOID:0081122	Catel Manzke syndrome	skos:exactMatch	MIM:616145	Catel-Manzke syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0081123	X-linked mental retardation Gustavson type	skos:exactMatch	MIM:309555	?Intellectual developmental disorder, X-linked syndromic, Gustavson type	semapv:ManualMappingCuration	2017-10-03
DOID:0081124	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1	skos:exactMatch	MIM:213980	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1	semapv:ManualMappingCuration	2022-07-27
DOID:0081125	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	skos:exactMatch	MIM:616994	?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	semapv:ManualMappingCuration	2022-07-27
DOID:0081126	DeSanto-Shinawi syndrome	skos:exactMatch	MIM:616708	Desanto-Shinawi syndrome	semapv:ManualMappingCuration	2016-02-09
DOID:0081127	mandibuloacral dysplasia	skos:exactMatch	MIM:PS248370	Mandibuloacral dysplasia	semapv:ManualMappingCuration	2022-08-29
DOID:0081128	mandibuloacral dysplasia type A lipodystrophy	skos:exactMatch	MIM:248370	Mandibuloacral dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0081129	mandibuloacral dysplasia type B lipodystrophy	skos:exactMatch	MIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0081130	BH4-deficient hyperphenylalaninemia C	skos:exactMatch	MIM:261630	Hyperphenylalaninemia, BH4-deficient, C	semapv:ManualMappingCuration	2014-06-23
DOID:0081131	BH4-deficient hyperphenylalaninemia D	skos:exactMatch	MIM:264070	Hyperphenylalaninemia, BH4-deficient, D	semapv:ManualMappingCuration	2014-06-23
DOID:0081133	3-methylglutaconic aciduria type 7a	skos:exactMatch	MIM:619835	3-methylglutaconic aciduria, type VIIA, autosomal dominant	semapv:ManualMappingCuration	2022-04-18
DOID:0081134	3-methylglutaconic aciduria type 7b	skos:exactMatch	MIM:616271	3-methylglutaconic aciduria, type VIIB, autosomal recessive	semapv:ManualMappingCuration	2017-01-11
DOID:0081135	agammaglobulinemia 2	skos:exactMatch	MIM:613500	Agammaglobulinemia 2	semapv:ManualMappingCuration	2017-10-03
DOID:0081136	agammaglobulinemia 1	skos:exactMatch	MIM:601495	Agammaglobulinemia 1	semapv:ManualMappingCuration	2017-10-10
DOID:0081137	agammaglobulinemia 3	skos:exactMatch	MIM:613501	Agammaglobulinemia 3	semapv:ManualMappingCuration	2017-10-03
DOID:0081138	agammaglobulinemia 6	skos:exactMatch	MIM:612692	Agammaglobulinemia 6	semapv:ManualMappingCuration	2017-10-10
DOID:0081139	agammaglobulinemia 7	skos:exactMatch	MIM:615214	?Agammaglobulinemia 7, autosomal recessive	semapv:ManualMappingCuration	2014-09-02
DOID:0081140	agammaglobulinemia 8A	skos:exactMatch	MIM:616941	Agammaglobulinemia 8A, autosomal dominant	semapv:ManualMappingCuration	2017-02-14
DOID:0081141	agammaglobulinemia 9	skos:exactMatch	MIM:619693	Agammaglobulinemia 9, autosomal recessive	semapv:ManualMappingCuration	2022-01-11
DOID:0081142	agammaglobulinemia 10	skos:exactMatch	MIM:619707	Agammaglobulinemia 10, autosomal dominant	semapv:ManualMappingCuration	2022-01-27
DOID:0081143	agammaglobulinemia 8B	skos:exactMatch	MIM:619824	Agammaglobulinemia 8B, autosomal recessive	semapv:ManualMappingCuration	2022-04-18
DOID:0081144	common variable immunodeficiency 1	skos:exactMatch	MIM:607594	Immunodeficiency, common variable, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0081145	common variable immunodeficiency 2	skos:exactMatch	MIM:240500	Immunodeficiency, common variable, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0081146	common variable immunodeficiency 3	skos:exactMatch	MIM:613493	Immunodeficiency, common variable, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0081147	common variable immunodeficiency 4	skos:exactMatch	MIM:613494	Immunodeficiency, common variable, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0081148	common variable immunodeficiency 5	skos:exactMatch	MIM:613495	?Immunodeficiency, common variable, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0081149	common variable immunodeficiency 6	skos:exactMatch	MIM:613496	Immunodeficiency, common variable, 6	semapv:ManualMappingCuration	2017-10-03
DOID:0081150	common variable immunodeficiency 7	skos:exactMatch	MIM:614699	?Immunodeficiency, common variable, 7	semapv:ManualMappingCuration	2014-10-20
DOID:0081151	common variable immunodeficiency 8	skos:exactMatch	MIM:614700	Immunodeficiency, common variable, 8, with autoimmunity	semapv:ManualMappingCuration	2017-10-10
DOID:0081152	common variable immunodeficiency 10	skos:exactMatch	MIM:615577	Immunodeficiency, common variable, 10	semapv:ManualMappingCuration	2014-10-20
DOID:0081153	common variable immunodeficiency 11	skos:exactMatch	MIM:615767	?Immunodeficiency, common variable, 11	semapv:ManualMappingCuration	2016-02-09
DOID:0081154	common variable immunodeficiency 12	skos:exactMatch	MIM:616576	Immunodeficiency, common variable, 12	semapv:ManualMappingCuration	2017-04-28
DOID:0081155	common variable immunodeficiency 13	skos:exactMatch	MIM:616873	Immunodeficiency, common variable, 13	semapv:ManualMappingCuration	2016-04-14
DOID:0081156	common variable immunodeficiency 14	skos:exactMatch	MIM:617765	?Immunodeficiency, common variable, 14	semapv:ManualMappingCuration	2018-01-16
DOID:0081157	dilated cardiomyopathy 1LL	skos:exactMatch	MIM:615373	Cardiomyopathy, dilated, 1LL	semapv:ManualMappingCuration	2014-09-09
DOID:0081158	dilated cardiomyopathy 1MM	skos:exactMatch	MIM:615396	Cardiomyopathy, dilated, 1MM	semapv:ManualMappingCuration	2014-09-09
DOID:0081159	dilated cardiomyopathy 2C	skos:exactMatch	MIM:618189	Cardiomyopathy, dilated, 2C	semapv:ManualMappingCuration	2019-01-11
DOID:0081160	dilated cardiomyopathy 2D	skos:exactMatch	MIM:619371	Cardiomyopathy, dilated, 2D	semapv:ManualMappingCuration	2021-06-08
DOID:0081161	dilated cardiomyopathy 2E	skos:exactMatch	MIM:619492	Cardiomyopathy, dilated, 2E	semapv:ManualMappingCuration	2021-08-25
DOID:0081162	dilated cardiomyopathy 2F	skos:exactMatch	MIM:619747	Cardiomyopathy, dilated, 2F	semapv:ManualMappingCuration	2022-02-14
DOID:0081163	dilated cardiomyopathy 2G	skos:exactMatch	MIM:619897	Cardiomyopathy, dilated, 2G	semapv:ManualMappingCuration	2022-05-31
DOID:0081168	HMG-CoA synthase 2 deficiency	skos:exactMatch	MIM:605911	HMG-CoA synthase-2 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0081169	Leber congenital amaurosis 19	skos:exactMatch	MIM:618513	?Leber congenital amaurosis 19	semapv:ManualMappingCuration	2019-07-25
DOID:0081175	short stature, hearing loss, retinitis pigmentosa, and distinctive facies	skos:exactMatch	MIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	semapv:ManualMappingCuration	2018-01-18
DOID:0081176	hypotonia, ataxia, and delayed development syndrome	skos:exactMatch	MIM:617330	Hypotonia, ataxia, and delayed development syndrome	semapv:ManualMappingCuration	2017-03-06
DOID:0081177	autosomal recessive intellectual developmental disorder 1	skos:exactMatch	MIM:249500	Intellectual developmental disorder, autosomal recessive 1	semapv:ManualMappingCuration	2017-10-03
DOID:0081178	autosomal recessive intellectual developmental disorder 2	skos:exactMatch	MIM:607417	Intellectual developmental disorder, autosomal recessive 2	semapv:ManualMappingCuration	2017-10-03
DOID:0081179	autosomal recessive intellectual developmental disorder 3	skos:exactMatch	MIM:608443	Intellectual developmental disorder, autosomal recessive 3	semapv:ManualMappingCuration	2017-10-03
DOID:0081180	autosomal recessive intellectual developmental disorder 12	skos:exactMatch	MIM:611090	Intellectual developmental disorder, autosomal recessive 12	semapv:ManualMappingCuration	2017-10-03
DOID:0081181	autosomal recessive intellectual developmental disorder 5	skos:exactMatch	MIM:611091	Intellectual developmental disorder, autosomal recessive 5	semapv:ManualMappingCuration	2017-10-03
DOID:0081182	autosomal recessive intellectual developmental disorder 6	skos:exactMatch	MIM:611092	Intellectual developmental disorder, autosomal recessive 6	semapv:ManualMappingCuration	2017-10-03
DOID:0081183	autosomal recessive intellectual developmental disorder 7	skos:exactMatch	MIM:611093	Intellectual developmental disorder, autosomal recessive 7	semapv:ManualMappingCuration	2017-10-03
DOID:0081184	autosomal recessive intellectual developmental disorder 9/26	skos:exactMatch	MIM:611095	Intellectual developmental disorder, autosomal recessive 9/26	semapv:ManualMappingCuration	2017-10-03
DOID:0081185	autosomal recessive intellectual developmental disorder 10/20	skos:exactMatch	MIM:611096	Intellectual developmental disorder, autosomal recessive 10/20	semapv:ManualMappingCuration	2017-10-03
DOID:0081186	autosomal recessive intellectual developmental disorder 11	skos:exactMatch	MIM:611097	Intellectual developmental disorder, autosomal recessive 11	semapv:ManualMappingCuration	2017-10-03
DOID:0081187	autosomal recessive intellectual developmental disorder 4	skos:exactMatch	MIM:611107	Intellectual developmental disorder, autosomal recessive 4	semapv:ManualMappingCuration	2017-10-03
DOID:0081188	autosomal recessive intellectual developmental disorder 14	skos:exactMatch	MIM:614020	Intellectual developmental disorder, autosomal recessive 14	semapv:ManualMappingCuration	2014-09-09
DOID:0081189	autosomal recessive intellectual developmental disorder 16	skos:exactMatch	MIM:614208	Intellectual developmental disorder, autosomal recessive 16	semapv:ManualMappingCuration	2014-06-23
DOID:0081190	autosomal recessive intellectual developmental disorder 18	skos:exactMatch	MIM:614249	Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy	semapv:ManualMappingCuration	2014-09-09
DOID:0081191	autosomal recessive intellectual developmental disorder 31	skos:exactMatch	MIM:614329	Intellectual developmental disorder, autosomal recessive 31	semapv:ManualMappingCuration	2018-06-21
DOID:0081192	autosomal recessive intellectual developmental disorder 29	skos:exactMatch	MIM:614333	Intellectual developmental disorder, autosomal recessive 29	semapv:ManualMappingCuration	2018-07-30
DOID:0081193	autosomal recessive intellectual developmental disorder 27	skos:exactMatch	MIM:614340	Intellectual developmental disorder, autosomal recessive 27	semapv:ManualMappingCuration	2014-09-09
DOID:0081194	autosomal recessive intellectual developmental disorder 33	skos:exactMatch	MIM:614341	Intellectual developmental disorder, autosomal recessive 33	semapv:ManualMappingCuration	2017-10-10
DOID:0081195	autosomal recessive intellectual developmental disorder 30	skos:exactMatch	MIM:614342	Intellectual developmental disorder, autosomal recessive 30	semapv:ManualMappingCuration	2018-04-16
DOID:0081196	autosomal recessive intellectual developmental disorder 23	skos:exactMatch	MIM:614344	Intellectual developmental disorder, autosomal recessive 23	semapv:ManualMappingCuration	2018-05-22
DOID:0081197	autosomal recessive intellectual developmental disorder 24	skos:exactMatch	MIM:614345	Intellectual developmental disorder, autosomal recessive 24	semapv:ManualMappingCuration	2017-10-10
DOID:0081198	autosomal recessive intellectual developmental disorder 25	skos:exactMatch	MIM:614346	Intellectual developmental disorder, autosomal recessive 25	semapv:ManualMappingCuration	2017-10-03
DOID:0081199	autosomal recessive intellectual developmental disorder 28	skos:exactMatch	MIM:614347	Intellectual developmental disorder, autosomal recessive 28	semapv:ManualMappingCuration	2018-08-06
DOID:0081200	autosomal recessive intellectual developmental disorder 34	skos:exactMatch	MIM:614499	Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly	semapv:ManualMappingCuration	2014-09-09
DOID:0081201	autosomal recessive intellectual developmental disorder 35	skos:exactMatch	MIM:615162	Intellectual developmental disorder, autosomal recessive 35	semapv:ManualMappingCuration	2020-07-10
DOID:0081202	autosomal recessive intellectual developmental disorder 37	skos:exactMatch	MIM:615493	Intellectual developmental disorder, autosomal recessive 37	semapv:ManualMappingCuration	2014-09-09
DOID:0081203	autosomal recessive intellectual developmental disorder 38	skos:exactMatch	MIM:615516	Intellectual developmental disorder, autosomal recessive 38	semapv:ManualMappingCuration	2014-09-09
DOID:0081204	autosomal recessive intellectual developmental disorder 39	skos:exactMatch	MIM:615541	Intellectual developmental disorder, autosomal recessive 39	semapv:ManualMappingCuration	2014-09-09
DOID:0081205	autosomal recessive intellectual developmental disorder 40	skos:exactMatch	MIM:615599	Intellectual developmental disorder, autosomal recessive 40	semapv:ManualMappingCuration	2014-09-09
DOID:0081206	autosomal recessive intellectual developmental disorder 41	skos:exactMatch	MIM:615637	Intellectual developmental disorder, autosomal recessive 41	semapv:ManualMappingCuration	2014-09-09
DOID:0081207	autosomal recessive intellectual developmental disorder 43	skos:exactMatch	MIM:615817	Intellectual developmental disorder, autosomal recessive 43	semapv:ManualMappingCuration	2014-09-09
DOID:0081208	autosomal recessive intellectual developmental disorder 44	skos:exactMatch	MIM:615942	Intellectual developmental disorder, autosomal recessive 44	semapv:ManualMappingCuration	2017-05-08
DOID:0081209	autosomal recessive intellectual developmental disorder 45	skos:exactMatch	MIM:615979	?Intellectual developmental disorder, autosomal recessive 45	semapv:ManualMappingCuration	2017-10-10
DOID:0081210	autosomal recessive intellectual developmental disorder 46	skos:exactMatch	MIM:616116	Intellectual developmental disorder, autosomal recessive 46	semapv:ManualMappingCuration	2015-03-10
DOID:0081211	autosomal recessive intellectual developmental disorder 47	skos:exactMatch	MIM:616193	Intellectual developmental disorder, autosomal recessive 47	semapv:ManualMappingCuration	2017-05-08
DOID:0081212	autosomal recessive intellectual developmental disorder 48	skos:exactMatch	MIM:616269	Intellectual developmental disorder, autosomal recessive 48	semapv:ManualMappingCuration	2017-05-08
DOID:0081213	autosomal recessive intellectual developmental disorder 50	skos:exactMatch	MIM:616460	?Intellectual developmental disorder, autosomal recessive 50	semapv:ManualMappingCuration	2017-05-08
DOID:0081214	autosomal recessive intellectual developmental disorder 51	skos:exactMatch	MIM:616739	Intellectual developmental disorder, autosomal recessive 51	semapv:ManualMappingCuration	2016-02-10
DOID:0081215	autosomal recessive intellectual developmental disorder 52	skos:exactMatch	MIM:616887	?Intellectual developmental disorder, autosomal recessive 52	semapv:ManualMappingCuration	2016-05-19
DOID:0081216	autosomal recessive intellectual developmental disorder 54	skos:exactMatch	MIM:617028	Intellectual developmental disorder, autosomal recessive 54	semapv:ManualMappingCuration	2017-05-08
DOID:0081217	autosomal recessive intellectual developmental disorder 56	skos:exactMatch	MIM:617125	Intellectual developmental disorder, autosomal recessive 56	semapv:ManualMappingCuration	2017-05-08
DOID:0081218	autosomal recessive intellectual developmental disorder 74	skos:exactMatch	MIM:617169	Intellectual developmental disorder, autosomal recessive 74	semapv:ManualMappingCuration	2023-12-29
DOID:0081219	autosomal recessive intellectual developmental disorder 57	skos:exactMatch	MIM:617188	Intellectual developmental disorder, autosomal recessive 57	semapv:ManualMappingCuration	2017-05-08
DOID:0081220	autosomal recessive intellectual developmental disorder 58	skos:exactMatch	MIM:617270	Intellectual developmental disorder, autosomal recessive 58	semapv:ManualMappingCuration	2017-05-08
DOID:0081221	autosomal recessive intellectual developmental disorder 59	skos:exactMatch	MIM:617323	Intellectual developmental disorder, autosomal recessive 59	semapv:ManualMappingCuration	2017-06-19
DOID:0081222	autosomal recessive intellectual developmental disorder 60	skos:exactMatch	MIM:617432	Intellectual developmental disorder, autosomal recessive 60	semapv:ManualMappingCuration	2017-06-19
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16	skos:exactMatch	MIM:617816	Glycosylphosphatidylinositol biosynthesis defect 16	semapv:ManualMappingCuration	2018-01-15
DOID:0081224	autosomal recessive intellectual developmental disorder 63	skos:exactMatch	MIM:618095	?Intellectual developmental disorder, autosomal recessive 63	semapv:ManualMappingCuration	2018-09-12
DOID:0081225	autosomal recessive intellectual developmental disorder 64	skos:exactMatch	MIM:618103	Intellectual developmental disorder, autosomal recessive 64	semapv:ManualMappingCuration	2018-09-12
DOID:0081226	autosomal recessive intellectual developmental disorder 65	skos:exactMatch	MIM:618109	Intellectual developmental disorder, autosomal recessive 65	semapv:ManualMappingCuration	2018-11-09
DOID:0081227	autosomal recessive intellectual developmental disorder 66	skos:exactMatch	MIM:618221	Intellectual developmental disorder, autosomal recessive 66	semapv:ManualMappingCuration	2019-01-15
DOID:0081228	autosomal recessive intellectual developmental disorder 67	skos:exactMatch	MIM:618295	Intellectual developmental disorder, autosomal recessive 67	semapv:ManualMappingCuration	2019-02-12
DOID:0081229	autosomal recessive intellectual developmental disorder 68	skos:exactMatch	MIM:618302	Intellectual developmental disorder, autosomal recessive 68	semapv:ManualMappingCuration	2019-02-13
DOID:0081230	autosomal recessive intellectual developmental disorder 69	skos:exactMatch	MIM:618383	Intellectual developmental disorder, autosomal recessive 69	semapv:ManualMappingCuration	2019-04-11
DOID:0081231	autosomal recessive intellectual developmental disorder 70	skos:exactMatch	MIM:618402	Intellectual developmental disorder, autosomal recessive 70	semapv:ManualMappingCuration	2019-05-30
DOID:0081232	autosomal recessive intellectual developmental disorder 71	skos:exactMatch	MIM:618504	Intellectual developmental disorder, autosomal recessive 71	semapv:ManualMappingCuration	2019-09-09
DOID:0081233	autosomal recessive intellectual developmental disorder 73	skos:exactMatch	MIM:619717	Intellectual developmental disorder, autosomal recessive 73	semapv:ManualMappingCuration	2022-03-18
DOID:0081234	autosomal recessive intellectual developmental disorder 75	skos:exactMatch	MIM:619827	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly	semapv:ManualMappingCuration	2022-04-21
DOID:0081235	autosomal recessive intellectual developmental disorder 76	skos:exactMatch	MIM:619931	?Intellectual developmental disorder, autosomal recessive 76	semapv:ManualMappingCuration	2022-06-30
DOID:0081236	autosomal recessive intellectual developmental disorder 77	skos:exactMatch	MIM:619988	Intellectual developmental disorder, autosomal recessive 77	semapv:ManualMappingCuration	2022-08-15
DOID:0081237	acromesomelic dysplasia-3	skos:exactMatch	MIM:609441	Acromesomelic dysplasia 3	semapv:ManualMappingCuration	2017-10-03
DOID:0081238	acromesomelic dysplasia-4	skos:exactMatch	MIM:619636	Acromesomelic dysplasia 4	semapv:ManualMappingCuration	2021-11-30
DOID:0081240	peroxisome biogenesis disorder 1B	skos:exactMatch	MIM:601539	Peroxisome biogenesis disorder 1B (NALD/IRD)	semapv:ManualMappingCuration	2017-10-03
DOID:0081241	peroxisome biogenesis disorder 3B	skos:exactMatch	MIM:266510	Peroxisome biogenesis disorder 3B	semapv:ManualMappingCuration	2018-04-24
DOID:0081242	autoimmune interstitial lung, joint, and kidney disease	skos:exactMatch	MIM:616414	{Autoinflammation and autoimmunity, systemic, with immune dysregulation}	semapv:ManualMappingCuration	2016-04-12
DOID:0081243	rhizomelic chondrodysplasia punctate type 4	skos:exactMatch	MIM:616154	Peroxisomal fatty acyl-CoA reductase 1 disorder	semapv:ManualMappingCuration	2017-03-30
DOID:0081262	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	skos:exactMatch	MIM:619556	Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies	semapv:ManualMappingCuration	2021-12-10
DOID:0081263	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	skos:exactMatch	MIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	semapv:ManualMappingCuration	2019-09-16
DOID:0081265	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	skos:exactMatch	MIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	semapv:ManualMappingCuration	2019-03-05
DOID:0081266	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	skos:exactMatch	MIM:618737	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	semapv:ManualMappingCuration	2020-02-14
DOID:0081267	graft-versus-host disease	skos:exactMatch	MIM:614395	{Graft-versus-host disease, protection against}	semapv:ManualMappingCuration	2015-10-06
DOID:0081268	pulmonary venoocclusive disease 1	skos:exactMatch	MIM:265450	Pulmonary venoocclusive disease 1	semapv:ManualMappingCuration	2018-07-18
DOID:0081269	pulmonary venoocclusive disease 2	skos:exactMatch	MIM:234810	Pulmonary venoocclusive disease 2	semapv:ManualMappingCuration	2014-10-20
DOID:0081270	Smith-McCort dysplasia 1	skos:exactMatch	MIM:607326	Smith-McCort dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0081271	Smith-McCort dysplasia 2	skos:exactMatch	MIM:615222	Smith-McCort dysplasia 2	semapv:ManualMappingCuration	2014-09-09
DOID:0081272	Sandestig-Stefanova syndrome	skos:exactMatch	MIM:618804	Sandestig-Stefanova syndrome	semapv:ManualMappingCuration	2020-03-06
DOID:0081273	Siddiqi syndrome	skos:exactMatch	MIM:618635	Siddiqi syndrome	semapv:ManualMappingCuration	2019-11-14
DOID:0081274	peroxisome biogenesis disorder 14B	skos:exactMatch	MIM:614920	Peroxisome biogenesis disorder 14B	semapv:ManualMappingCuration	2014-09-09
DOID:0081275	neurodevelopmental disorder with eye movement abnormalities and ataxia	skos:exactMatch	MIM:620094	Neurodevelopmental disorder with eye movement abnormalities and ataxia	semapv:ManualMappingCuration	2022-10-28
DOID:0081276	cerebellar atrophy, visual impairment, and psychomotor retardation	skos:exactMatch	MIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	semapv:ManualMappingCuration	2016-04-13
DOID:0081287	white sponge nevus 1	skos:exactMatch	MIM:193900	White sponge nevus 1	semapv:ManualMappingCuration	2017-10-03
DOID:0081288	white sponge nevus 2	skos:exactMatch	MIM:615785	White sponge nevus 2	semapv:ManualMappingCuration	2017-10-10
DOID:0081290	Antley-Bixler syndrome without disordered steroidogenesis	skos:exactMatch	MIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	semapv:ManualMappingCuration	2014-06-23
DOID:0081294	neuronal intranuclear inclusion disease	skos:exactMatch	MIM:603472	Neuronal intranuclear inclusion disease	semapv:ManualMappingCuration	2019-10-11
DOID:0081295	essential tremor 6	skos:exactMatch	MIM:618866	Tremor, hereditary essential, 6	semapv:ManualMappingCuration	2020-05-05
DOID:0081296	oculopharyngodistal myopathy	skos:exactMatch	MIM:PS164310	Oculopharyngodistal myopathy 1	semapv:ManualMappingCuration	2020-09-29
DOID:0081297	oculopharyngodistal myopathy 1	skos:exactMatch	MIM:164310	Oculopharyngodistal myopathy 1	semapv:ManualMappingCuration	2019-10-25
DOID:0081298	oculopharyngodistal myopathy 2	skos:exactMatch	MIM:618940	Oculopharyngodistal myopathy 2	semapv:ManualMappingCuration	2020-07-16
DOID:0081299	oculopharyngodistal myopathy 3	skos:exactMatch	MIM:619473	Oculopharyngodistal myopathy 3	semapv:ManualMappingCuration	2021-08-25
DOID:0081300	oculopharyngodistal myopathy 4	skos:exactMatch	MIM:619790	Oculopharyngodistal myopathy 4	semapv:ManualMappingCuration	2022-03-24
DOID:0081301	intellectual developmental disorder with ocular anomalies and distinctive facial features	skos:exactMatch	MIM:620086	Intellectual developmental disorder with ocular anomalies and distinctive facial features	semapv:ManualMappingCuration	2022-10-24
DOID:0081317	multiple synostoses syndrome 1	skos:exactMatch	MIM:186500	Multiple synostoses syndrome 1	semapv:ManualMappingCuration	2014-06-23
DOID:0081318	multiple synostoses syndrome 2	skos:exactMatch	MIM:610017	Multiple synostoses syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0081319	multiple synostoses syndrome 3	skos:exactMatch	MIM:612961	Multiple synostoses syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:0081320	multiple synostoses syndrome 4	skos:exactMatch	MIM:617898	Multiple synostoses syndrome 4	semapv:ManualMappingCuration	2018-04-23
DOID:0081321	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	skos:exactMatch	MIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	semapv:ManualMappingCuration	2017-10-09
DOID:0081322	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B	skos:exactMatch	MIM:618469	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B	semapv:ManualMappingCuration	2019-09-10
DOID:0081324	neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss	skos:exactMatch	MIM:620071	?Birk-Aharoni syndrome	semapv:ManualMappingCuration	2022-12-15
DOID:0081325	developmental and epileptic encephalopathy 94	skos:exactMatch	MIM:615369	Developmental and epileptic encephalopathy 94	semapv:ManualMappingCuration	2014-09-09
DOID:0081326	oxoglutarate dehydrogenase deficiency	skos:exactMatch	MIM:203740	Oxoglutarate dehydrogenase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0081327	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	skos:exactMatch	MIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	semapv:ManualMappingCuration	2018-09-13
DOID:0081328	familial hyperinsulinemic hypoglycemia 8	skos:exactMatch	MIM:620211	Hyperinsulinemic hypoglycemia, familial, 8	semapv:ManualMappingCuration	2023-01-30
DOID:0081330	glycogen storage disease Ib	skos:exactMatch	MIM:232220	Glycogen storage disease Ib	semapv:ManualMappingCuration	2017-10-03
DOID:0081331	glycogen storage disease Ic	skos:exactMatch	MIM:232240	Glycogen storage disease Ic	semapv:ManualMappingCuration	2017-10-03
DOID:0081332	progeroid syndrome	skos:exactMatch	MIM:PS176670	Hutchinson-Gilford progeria	semapv:ManualMappingCuration	2023-12-20
DOID:0081333	Wiedemann-Rautenstrauch syndrome	skos:exactMatch	MIM:264090	Wiedemann-Rautenstrauch syndrome	semapv:ManualMappingCuration	2019-06-12
DOID:0081334	Nestor-Guillermo progeria syndrome	skos:exactMatch	MIM:614008	Nestor-Guillermo progeria syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:0081335	Becker disease	skos:exactMatch	MIM:255300	BATTEN-TURNER CONGENITAL MYOPATHY	semapv:ManualMappingCuration	2023-05-31
DOID:0081335	Becker disease	skos:exactMatch	MIM:255700	Myotonia congenita, recessive	semapv:ManualMappingCuration	2018-01-15
DOID:0081336	Thomsen disease	skos:exactMatch	MIM:160800	Myotonia levior	semapv:ManualMappingCuration	2014-06-23
DOID:0081337	congenital myopathy	skos:exactMatch	MIM:PS117000	Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia	semapv:ManualMappingCuration	2023-05-09
DOID:0081338	myofibrillar myopathy 11	skos:exactMatch	MIM:619178	Myofibrillar myopathy 11	semapv:ManualMappingCuration	2021-02-16
DOID:0081339	congenital myopathy 2B	skos:exactMatch	MIM:620265	Congenital myopathy 2B, severe infantile, autosomal recessive	semapv:ManualMappingCuration	2023-03-14
DOID:0081340	congenital myopathy 2C	skos:exactMatch	MIM:620278	Congenital myopathy 2C, severe infantile, autosomal dominant	semapv:ManualMappingCuration	2023-03-14
DOID:0081341	congenital myopathy 5	skos:exactMatch	MIM:611705	Congenital myopathy 5 with cardiomyopathy	semapv:ManualMappingCuration	2017-10-03
DOID:0081342	congenital myopathy 8	skos:exactMatch	MIM:618654	Congenital myopathy 8	semapv:ManualMappingCuration	2020-01-13
DOID:0081343	congenital myopathy 9A	skos:exactMatch	MIM:618822	?Congenital myopathy 9A with respiratory insufficiency and bone fractures	semapv:ManualMappingCuration	2020-08-03
DOID:0081344	congenital myopathy 9B	skos:exactMatch	MIM:618823	Congenital myopathy 9B, proximal, with minicore lesions	semapv:ManualMappingCuration	2020-05-18
DOID:0081345	congenital myopathy 10B	skos:exactMatch	MIM:620249	Congenital myopathy 10B, mild variant	semapv:ManualMappingCuration	2023-03-14
DOID:0081346	congenital myopathy 14	skos:exactMatch	MIM:618414	Congenital myopathy 14	semapv:ManualMappingCuration	2019-05-29
DOID:0081347	congenital myopathy 15	skos:exactMatch	MIM:620161	Congenital myopathy 15	semapv:ManualMappingCuration	2023-02-28
DOID:0081348	congenital myopathy 16	skos:exactMatch	MIM:618524	Congenital myopathy 16	semapv:ManualMappingCuration	2019-10-10
DOID:0081349	congenital myopathy 17	skos:exactMatch	MIM:618975	Congenital myopathy 17	semapv:ManualMappingCuration	2020-12-15
DOID:0081350	congenital myopathy 18	skos:exactMatch	MIM:620246	Congenital myopathy 18 due to dihydropyridine receptor defect	semapv:ManualMappingCuration	2023-05-01
DOID:0081351	congenital myopathy 19	skos:exactMatch	MIM:618578	Congenital myopathy 19	semapv:ManualMappingCuration	2019-10-10
DOID:0081352	congenital myopathy 20	skos:exactMatch	MIM:620310	Congenital myopathy 20	semapv:ManualMappingCuration	2023-04-10
DOID:0081353	congenital myopathy 21	skos:exactMatch	MIM:620326	Congenital myopathy 21 with early respiratory failure	semapv:ManualMappingCuration	2023-04-21
DOID:0081354	congenital myopathy 22A	skos:exactMatch	MIM:620351	Congenital myopathy 22A, classic	semapv:ManualMappingCuration	2023-05-12
DOID:0081355	congenital myopathy 22B	skos:exactMatch	MIM:620369	Congenital myopathy 22B, severe fetal	semapv:ManualMappingCuration	2023-05-12
DOID:0081356	spinal muscular atrophy, Jokela type	skos:exactMatch	MIM:615048	Spinal muscular atrophy, Jokela type	semapv:ManualMappingCuration	2015-06-11
DOID:0081357	isolated mitochondrial myopathy	skos:exactMatch	MIM:616209	?Myopathy, isolated mitochondrial, autosomal dominant	semapv:ManualMappingCuration	2017-03-28
DOID:0081358	epidermolytic hyperkeratosis 1	skos:exactMatch	MIM:113800	Epidermolytic hyperkeratosis 1	semapv:ManualMappingCuration	2017-10-03
DOID:0081359	epidermolytic hyperkeratosis 2	skos:exactMatch	MIM:620150	Epidermolytic hyperkeratosis 2A, autosomal dominant	semapv:ManualMappingCuration	2023-05-12
DOID:0081359	epidermolytic hyperkeratosis 2	skos:exactMatch	MIM:620707	Epidermolytic hyperkeratosis 2B, autosomal recessive	semapv:ManualMappingCuration	2024-02-12
DOID:0081360	spastic quadriplegic cerebral palsy 2	skos:exactMatch	MIM:612900	Cerebral palsy, spastic quadriplegic, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0081361	spastic quadriplegic cerebral palsy 3	skos:exactMatch	MIM:617008	Cerebral palsy, spastic quadriplegic, 3	semapv:ManualMappingCuration	2017-10-10
DOID:0081362	Pierpont syndrome	skos:exactMatch	MIM:602342	Pierpont syndrome	semapv:ManualMappingCuration	2017-12-14
DOID:0081363	distal myopathy with rimmed vacuoles	skos:exactMatch	MIM:617158	Myopathy, distal, with rimmed vacuoles	semapv:ManualMappingCuration	2023-05-31
DOID:0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	skos:exactMatch	MIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	semapv:ManualMappingCuration	2017-03-29
DOID:0081365	Paget's disease of bone 2	skos:exactMatch	MIM:602080	{Paget disease of bone 2, early-onset}	semapv:ManualMappingCuration	2017-10-03
DOID:0081366	Paget's disease of bone 3	skos:exactMatch	MIM:167250	Paget disease of bone 3	semapv:ManualMappingCuration	2017-10-03
DOID:0081367	Paget's disease of bone 4	skos:exactMatch	MIM:606263	Paget disease of bone 4	semapv:ManualMappingCuration	2017-10-03
DOID:0081368	Paget's disease of bone 5	skos:exactMatch	MIM:239000	Paget disease of bone 5, juvenile-onset	semapv:ManualMappingCuration	2014-06-23
DOID:0081369	Paget's disease of bone 6	skos:exactMatch	MIM:616833	Paget disease of bone 6	semapv:ManualMappingCuration	2016-03-11
DOID:0081370	LADD syndrome	skos:exactMatch	MIM:PS149730	LADD syndrome 1	semapv:ManualMappingCuration	2023-02-10
DOID:0081371	lacrimoauriculodentodigital syndrome 2	skos:exactMatch	MIM:620192	LADD syndrome 2	semapv:ManualMappingCuration	2023-01-09
DOID:0081372	lacrimoauriculodentodigital syndrome 3	skos:exactMatch	MIM:620193	LADD syndrome 3	semapv:ManualMappingCuration	2023-01-09
DOID:0081373	disabling pansclerotic morphea	skos:exactMatch	MIM:620443	Disabling pansclerotic morphea of childhood	semapv:ManualMappingCuration	2023-07-25
DOID:0081374	nemaline myopathy 5B	skos:exactMatch	MIM:620386	Nemaline myopathy 5B, autosomal recessive, childhood-onset	semapv:ManualMappingCuration	2023-06-29
DOID:0081375	nemaline myopathy 5C	skos:exactMatch	MIM:620389	Nemaline myopathy 5C, autosomal dominant	semapv:ManualMappingCuration	2023-06-29
DOID:0081378	amyotrophic lateral sclerosis type 24	skos:exactMatch	MIM:617892	{Amyotrophic lateral sclerosis, susceptibility to, 24}	semapv:ManualMappingCuration	2018-04-11
DOID:0081379	amyotrophic lateral sclerosis type 25	skos:exactMatch	MIM:617921	{Amyotrophic lateral sclerosis, susceptibility to, 25}	semapv:ManualMappingCuration	2018-04-11
DOID:0081380	amyotrophic lateral sclerosis type 26	skos:exactMatch	MIM:619133	Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	semapv:ManualMappingCuration	2021-01-07
DOID:0081381	juvenile amyotrophic lateral sclerosis type 27	skos:exactMatch	MIM:620285	Amyotrophic lateral sclerosis 27, juvenile	semapv:ManualMappingCuration	2023-03-17
DOID:0081382	amyotrophic lateral sclerosis type 28	skos:exactMatch	MIM:620452	Amyotrophic lateral sclerosis 28	semapv:ManualMappingCuration	2023-08-04
DOID:0081383	ataxia-oculomotor apraxia type 4	skos:exactMatch	MIM:616267	Ataxia-oculomotor apraxia 4	semapv:ManualMappingCuration	2017-02-15
DOID:0081384	ataxia-telangiectasia-like disorder-1	skos:exactMatch	MIM:604391	Ataxia-telangiectasia-like disorder 1	semapv:ManualMappingCuration	2017-07-25
DOID:0081385	ataxia-telangiectasia-like disorder-2	skos:exactMatch	MIM:615919	?Ataxia-telangiectasia-like disorder 2	semapv:ManualMappingCuration	2017-02-15
DOID:0081386	TANGO2-related metabolic encephalopathy and arrythmias	skos:exactMatch	MIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	semapv:ManualMappingCuration	2016-04-14
DOID:0081387	neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	skos:exactMatch	MIM:620428	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	semapv:ManualMappingCuration	2023-07-18
DOID:0081395	Harel-Yoon syndrome	skos:exactMatch	MIM:617183	Harel-Yoon syndrome	semapv:ManualMappingCuration	2017-04-25
DOID:0081396	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome	skos:exactMatch	MIM:618810	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	semapv:ManualMappingCuration	2020-08-13
DOID:0081397	Vissers-Bodmer syndrome	skos:exactMatch	MIM:619033	Vissers-Bodmer syndrome	semapv:ManualMappingCuration	2020-12-17
DOID:0081398	holoprosencephaly 12	skos:exactMatch	MIM:618500	Holoprosencephaly 12, with or without pancreatic agenesis	semapv:ManualMappingCuration	2019-07-18
DOID:0081399	autosomal dominant distal hereditary motor neuronopathy 10	skos:exactMatch	MIM:620080	Neuronopathy, distal hereditary motor, autosomal dominant 10	semapv:ManualMappingCuration	2022-10-19
DOID:0081400	autosomal dominant distal hereditary motor neuronopathy 11	skos:exactMatch	MIM:620528	Neuronopathy, distal hereditary motor, autosomal dominant 11	semapv:ManualMappingCuration	2023-10-09
DOID:0081401	autosomal dominant distal hereditary motor neuronopathy 13	skos:exactMatch	MIM:619112	Neuronopathy, distal hereditary motor, autosomal dominant 13	semapv:ManualMappingCuration	2020-12-18
DOID:0081419	childhood-onset dystonia with optic atrophy and basal ganglia abnormalities	skos:exactMatch	MIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	semapv:ManualMappingCuration	2017-03-03
DOID:0081420	familial focal epilepsy with variable foci	skos:exactMatch	MIM:PS604364	Epilepsy, familial focal, with variable foci 1	semapv:ManualMappingCuration	2024-01-31
DOID:0081421	familial focal epilepsy with variable foci 1	skos:exactMatch	MIM:604364	Epilepsy, familial focal, with variable foci 1	semapv:ManualMappingCuration	2017-10-03
DOID:0081422	familial focal epilepsy with variable foci 2	skos:exactMatch	MIM:617116	Epilepsy, familial focal, with variable foci 2	semapv:ManualMappingCuration	2017-03-08
DOID:0081423	familial focal epilepsy with variable foci 3	skos:exactMatch	MIM:617118	Epilepsy, familial focal, with variable foci 3	semapv:ManualMappingCuration	2017-03-09
DOID:0081424	familial focal epilepsy with variable foci 4	skos:exactMatch	MIM:617935	Epilepsy, familial focal, with variable foci 4	semapv:ManualMappingCuration	2018-05-21
DOID:0081425	autosomal recessive distal hereditary motor neuronopathy 6	skos:exactMatch	MIM:620011	Neuronopathy, distal hereditary motor, autosomal recessive 6	semapv:ManualMappingCuration	2022-09-06
DOID:0081426	autosomal recessive distal hereditary motor neuronopathy 7	skos:exactMatch	MIM:619216	Neuronopathy, distal hereditary motor, autosomal recessive 7	semapv:ManualMappingCuration	2021-04-12
DOID:0081427	autosomal recessive distal hereditary motor neuronopathy 8	skos:exactMatch	MIM:618912	Neuronopathy, distal hereditary motor, autosomal recessive 8	semapv:ManualMappingCuration	2020-09-15
DOID:0081428	autosomal recessive distal hereditary motor neuronopathy 9	skos:exactMatch	MIM:620402	Neuronopathy, distal hereditary motor, autosomal recessive 9	semapv:ManualMappingCuration	2023-10-24
DOID:0081429	autosomal recessive distal hereditary motor neuronopathy 10	skos:exactMatch	MIM:620542	Neuronopathy, distal hereditary motor, autosomal recessive 10	semapv:ManualMappingCuration	2023-10-30
DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures	skos:exactMatch	MIM:618906	Intellectual developmental disorder with autistic features and language delay, with or without seizures	semapv:ManualMappingCuration	2020-12-11
DOID:0081431	microcephaly, short stature, and limb abnormalities	skos:exactMatch	MIM:617604	Microcephaly, short stature, and limb abnormalities	semapv:ManualMappingCuration	2017-12-06
DOID:0081432	microcephaly-micromelia syndrome	skos:exactMatch	MIM:251230	Microcephaly-micromelia syndrome	semapv:ManualMappingCuration	
DOID:0081433	Peroxisome biogenesis disorder 4B	skos:exactMatch	MIM:614863	Peroxisome biogenesis disorder 4B	semapv:ManualMappingCuration	2014-09-09
DOID:0081434	Peroxisome biogenesis disorder 5B	skos:exactMatch	MIM:614867	Peroxisome biogenesis disorder 5B	semapv:ManualMappingCuration	2014-09-09
DOID:0081435	Peroxisome biogenesis disorder 6B	skos:exactMatch	MIM:614871	Peroxisome biogenesis disorder 6B	semapv:ManualMappingCuration	2014-09-09
DOID:0081436	Peroxisome biogenesis disorder 7B	skos:exactMatch	MIM:614873	Peroxisome biogenesis disorder 7B	semapv:ManualMappingCuration	2014-09-09
DOID:0081437	Peroxisome biogenesis disorder 8B	skos:exactMatch	MIM:614877	Peroxisome biogenesis disorder 8B	semapv:ManualMappingCuration	2014-09-09
DOID:0081438	Peroxisome biogenesis disorder 9B	skos:exactMatch	MIM:614879	Peroxisome biogenesis disorder 9B	semapv:ManualMappingCuration	2014-10-20
DOID:0081439	Peroxisome biogenesis disorder 11B	skos:exactMatch	MIM:614885	Peroxisome biogenesis disorder 11B	semapv:ManualMappingCuration	2014-09-09
DOID:0081440	Peroxisome biogenesis disorder 10B	skos:exactMatch	MIM:617370	?Peroxisome biogenesis disorder 10B	semapv:ManualMappingCuration	2017-06-20
DOID:0081441	Nicolaides-Baraitser syndrome	skos:exactMatch	MIM:601358	Nicolaides-Baraitser syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0081442	blepharophimosis-impaired intellectual development syndrome	skos:exactMatch	MIM:619293	Blepharophimosis-impaired intellectual development syndrome	semapv:ManualMappingCuration	2023-02-14
DOID:0081443	Stolerman neurodevelopmental syndrome	skos:exactMatch	MIM:618505	Stolerman neurodevelopmental syndrome	semapv:ManualMappingCuration	2019-08-16
DOID:0081444	neurodevelopmental disorder with poor growth and behavioral abnormalities	skos:exactMatch	MIM:620242	Neurodevelopmental disorder with poor growth and behavioral abnormalities	semapv:ManualMappingCuration	2023-05-04
DOID:0081445	sickle cell disease	skos:exactMatch	MIM:603903	Sickle cell disease	semapv:ManualMappingCuration	2024-05-01
DOID:0081446	dimethylglycine dehydrogenase deficiency	skos:exactMatch	MIM:605850	Dimethylglycine dehydrogenase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0081447	cone-rod dystrophy 21	skos:exactMatch	MIM:616502	Cone-rod dystrophy 21	semapv:ManualMappingCuration	2017-10-10
DOID:0081448	cone-rod dystrophy 22	skos:exactMatch	MIM:619531	Cone-rod dystrophy 22	semapv:ManualMappingCuration	2021-09-20
DOID:0081449	cone-rod dystrophy 24	skos:exactMatch	MIM:620342	Cone-rod dystrophy 24	semapv:ManualMappingCuration	2023-04-24
DOID:0081450	hyperimmunoglobulinemia D periodic fever syndrome	skos:exactMatch	MIM:260920	Hyper-IgD syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0081453	Dent disease 1	skos:exactMatch	MIM:300009	Dent disease 1	semapv:ManualMappingCuration	2017-10-03
DOID:0081454	Dent disease 2	skos:exactMatch	MIM:300555	Dent disease 2	semapv:ManualMappingCuration	2017-10-03
DOID:0090001	Fraser syndrome	skos:exactMatch	MIM:PS219000	Fraser syndrome 1	semapv:ManualMappingCuration	2018-10-11
DOID:0090002	Tietz syndrome	skos:exactMatch	MIM:103500	Tietz albinism-deafness syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy	skos:exactMatch	MIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	semapv:ManualMappingCuration	2017-10-03
DOID:0090004	progressive pseudorheumatoid arthropathy of childhood	skos:exactMatch	MIM:208230	Progressive pseudorheumatoid dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0090005	Schwartz-Jampel syndrome 1	skos:exactMatch	MIM:245160	KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS	semapv:ManualMappingCuration	2019-04-23
DOID:0090005	Schwartz-Jampel syndrome 1	skos:exactMatch	MIM:255800	Schwartz-Jampel syndrome, type 1	semapv:ManualMappingCuration	2018-07-03
DOID:0090006	renal coloboma syndrome	skos:exactMatch	MIM:120330	Papillorenal syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090007	immunodeficiency-centromeric instability-facial anomalies syndrome	skos:exactMatch	MIM:PS242860	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	semapv:ManualMappingCuration	2018-06-29
DOID:0090008	immunodeficiency-centromeric instability-facial anomalies syndrome 1	skos:exactMatch	MIM:242860	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	semapv:ManualMappingCuration	2014-06-23
DOID:0090009	immunodeficiency-centromeric instability-facial anomalies syndrome 2	skos:exactMatch	MIM:614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:0090010	immunodeficiency-centromeric instability-facial anomalies syndrome 3	skos:exactMatch	MIM:616910	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	semapv:ManualMappingCuration	2016-05-19
DOID:0090011	immunodeficiency-centromeric instability-facial anomalies syndrome 4	skos:exactMatch	MIM:616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	semapv:ManualMappingCuration	2016-05-19
DOID:0090012	severe combined immunodeficiency with sensitivity to ionizing radiation	skos:exactMatch	MIM:602450	Severe combined immunodeficiency, Athabascan type	semapv:ManualMappingCuration	2017-10-03
DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	skos:exactMatch	MIM:601457	Severe combined immunodeficiency, B cell-negative	semapv:ManualMappingCuration	2017-10-03
DOID:0090015	Cenani-Lenz syndactyly syndrome	skos:exactMatch	MIM:212780	Cenani-Lenz syndactyly syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090016	chromosome 5q deletion syndrome	skos:exactMatch	MIM:153550	Macrocytic anemia, refractory, due to 5q deletion, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy	skos:exactMatch	MIM:226670	Epidermolysis bullosa simplex 5B, with muscular dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0090018	autosomal dominant familial periodic fever	skos:exactMatch	MIM:142680	Periodic fever, familial	semapv:ManualMappingCuration	2017-10-03
DOID:0090019	sitosterolemia	skos:exactMatch	MIM:PS210250	Sitosterolemia 1	semapv:ManualMappingCuration	2020-02-24
DOID:0090020	split hand-foot malformation	skos:exactMatch	MIM:PS183600	Split-hand/foot malformation 1	semapv:ManualMappingCuration	2018-06-29
DOID:0090021	split hand-foot malformation 1	skos:exactMatch	MIM:183600	Split-hand/foot malformation 1	semapv:ManualMappingCuration	2018-02-15
DOID:0090022	split hand-foot malformation 5	skos:exactMatch	MIM:606708	Split-hand/foot malformation 5	semapv:ManualMappingCuration	2017-10-03
DOID:0090023	split hand-foot malformation 4	skos:exactMatch	MIM:605289	Split-hand/foot malformation 4	semapv:ManualMappingCuration	2017-10-03
DOID:0090024	split hand-foot malformation 1 with sensorineural hearing loss	skos:exactMatch	MIM:220600	?Split-hand/foot malformation 1 with sensorineural hearing loss	semapv:ManualMappingCuration	2017-10-03
DOID:0090025	split hand-foot malformation 3	skos:exactMatch	MIM:246560	Split-hand/foot malformation 3, gene duplication syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0090026	split hand-foot malformation 6	skos:exactMatch	MIM:225300	Split-hand/foot malformation 6	semapv:ManualMappingCuration	2017-10-03
DOID:0090027	split hand-foot malformation 2	skos:exactMatch	MIM:313350	Split hand/foot malformation 2	semapv:ManualMappingCuration	2017-10-03
DOID:0090028	familial isolated deficiency of vitamin E	skos:exactMatch	MIM:277460	Ataxia with isolated vitamin E deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0090029	CINCA syndrome	skos:exactMatch	MIM:607115	CINCA syndrome	semapv:ManualMappingCuration	2018-08-06
DOID:0090030	corticosteroid-binding globulin deficiency	skos:exactMatch	MIM:611489	Corticosteroid-binding globulin deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0090031	D-bifunctional protein deficiency	skos:exactMatch	MIM:261515	D-bifunctional protein deficiency	semapv:ManualMappingCuration	2014-06-23
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	skos:exactMatch	MIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	semapv:ManualMappingCuration	2017-10-03
DOID:0090034	myoclonic dystonia 11	skos:exactMatch	MIM:159900	Dystonia-11, myoclonic	semapv:ManualMappingCuration	2017-10-03
DOID:0090035	myoclonic dystonia 15	skos:exactMatch	MIM:607488	Dystonia-15, myoclonic	semapv:ManualMappingCuration	2017-10-03
DOID:0090036	myoclonic dystonia 26	skos:exactMatch	MIM:616398	Dystonia 26, myoclonic	semapv:ManualMappingCuration	2017-03-03
DOID:0090037	torsion dystonia 13	skos:exactMatch	MIM:607671	Dystonia 13, torsion	semapv:ManualMappingCuration	2017-10-03
DOID:0090038	torsion dystonia 2	skos:exactMatch	MIM:224500	Dystonia 2, torsion, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0090039	torsion dystonia 6	skos:exactMatch	MIM:602629	Dystonia 6, torsion	semapv:ManualMappingCuration	2017-10-03
DOID:0090040	torsion dystonia 7	skos:exactMatch	MIM:602124	Dystonia-7, torsion	semapv:ManualMappingCuration	2015-12-10
DOID:0090041	torsion dystonia 4	skos:exactMatch	MIM:128101	Dystonia 4, torsion, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0090042	torsion dystonia 17	skos:exactMatch	MIM:612406	Dystonia-17, primary torsion	semapv:ManualMappingCuration	2017-10-03
DOID:0090043	DOPA-responsive dystonia	skos:exactMatch	MIM:128230	Dystonia, DOPA-responsive	semapv:ManualMappingCuration	2017-10-03
DOID:0090044	dystonia 9	skos:exactMatch	MIM:601042	Dystonia 9	semapv:ManualMappingCuration	2017-10-03
DOID:0090045	glucose transporter type 1 deficiency syndrome 2	skos:exactMatch	MIM:612126	GLUT1 deficiency syndrome 2, childhood onset	semapv:ManualMappingCuration	2014-06-23
DOID:0090046	dystonia 21	skos:exactMatch	MIM:614588	Dystonia 21	semapv:ManualMappingCuration	2018-08-22
DOID:0090047	paroxysmal nonkinesigenic dyskinesia 2	skos:exactMatch	MIM:611147	Paroxysmal nonkinesigenic dyskinesia 2	semapv:ManualMappingCuration	2017-10-03
DOID:0090048	dystonia 16	skos:exactMatch	MIM:612067	Dystonia 16	semapv:ManualMappingCuration	2016-02-02
DOID:0090049	paroxysmal nonkinesigenic dyskinesia 1	skos:exactMatch	MIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	semapv:ManualMappingCuration	2017-10-03
DOID:0090050	dystonia 27	skos:exactMatch	MIM:616411	Dystonia 27	semapv:ManualMappingCuration	2017-01-16
DOID:0090051	dystonia 23	skos:exactMatch	MIM:614860	Dystonia 23	semapv:ManualMappingCuration	2015-06-17
DOID:0090052	dystonia 24	skos:exactMatch	MIM:615034	Dystonia 24	semapv:ManualMappingCuration	2014-09-09
DOID:0090053	episodic kinesigenic dyskinesia 1	skos:exactMatch	MIM:128200	Episodic kinesigenic dyskinesia 1	semapv:ManualMappingCuration	2015-12-11
DOID:0090054	episodic kinesigenic dyskinesia 2	skos:exactMatch	MIM:611031	Episodic kinesigenic dyskinesia 2	semapv:ManualMappingCuration	2017-10-03
DOID:0090055	dystonia 25	skos:exactMatch	MIM:615073	Dystonia 25	semapv:ManualMappingCuration	2014-09-09
DOID:0090056	dystonia 12	skos:exactMatch	MIM:128235	Dystonia-12	semapv:ManualMappingCuration	2017-10-03
DOID:0090057	X-linked dystonia-parkinsonism	skos:exactMatch	MIM:314250	Dystonia-Parkinsonism, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0090058	torsion dystonia with onset in infancy	skos:exactMatch	MIM:602554	TORSION DYSTONIA WITH ONSET IN INFANCY	semapv:ManualMappingCuration	2018-08-21
DOID:0090059	enhanced S-cone syndrome	skos:exactMatch	MIM:268100	Enhanced S-cone syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090060	Wolcott-Rallison syndrome	skos:exactMatch	MIM:226980	Wolcott-Rallison syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090061	familial cold autoinflammatory syndrome	skos:exactMatch	MIM:PS120100	Familial cold inflammatory syndrome 1	semapv:ManualMappingCuration	2018-06-29
DOID:0090062	familial cold autoinflammatory syndrome 1	skos:exactMatch	MIM:120100	Familial cold inflammatory syndrome 1	semapv:ManualMappingCuration	2017-07-25
DOID:0090063	familial cold autoinflammatory syndrome 2	skos:exactMatch	MIM:611762	Familial cold autoinflammatory syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0090064	familial cold autoinflammatory syndrome 3	skos:exactMatch	MIM:614468	Familial cold autoinflammatory syndrome 3	semapv:ManualMappingCuration	2014-09-09
DOID:0090065	familial cold autoinflammatory syndrome 4	skos:exactMatch	MIM:616115	?Familial cold autoinflammatory syndrome 4	semapv:ManualMappingCuration	2017-02-16
DOID:0090066	Fanconi-like syndrome	skos:exactMatch	MIM:227850	FANCONI-LIKE SYNDROME	semapv:ManualMappingCuration	2018-08-21
DOID:0090067	Fuhrmann syndrome	skos:exactMatch	MIM:228930	Fuhrmann syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090068	giant axonal neuropathy 1	skos:exactMatch	MIM:256850	Giant axonal neuropathy-1	semapv:ManualMappingCuration	2018-02-19
DOID:0090069	giant axonal neuropathy 2	skos:exactMatch	MIM:610100	?Giant axonal neuropathy 2, autosomal dominant	semapv:ManualMappingCuration	2014-10-20
DOID:0090070	hypogonadotropic hypogonadism	skos:exactMatch	MIM:PS147950	Hypogonadotropic hypogonadism 2 with or without anosmia	semapv:ManualMappingCuration	2018-06-29
DOID:0090071	hypogonadotropic hypogonadism 11 with or without anosmia	skos:exactMatch	MIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia	semapv:ManualMappingCuration	2014-09-02
DOID:0090072	hypogonadotropic hypogonadism 12 with or without anosmia	skos:exactMatch	MIM:614841	?Hypogonadotropic hypogonadism 12 with or without anosmia	semapv:ManualMappingCuration	2017-10-03
DOID:0090073	hypogonadotropic hypogonadism 13 with or without anosmia	skos:exactMatch	MIM:614842	?Hypogonadotropic hypogonadism 13 with or without anosmia	semapv:ManualMappingCuration	2014-09-02
DOID:0090074	hypogonadotropic hypogonadism 8 with or without anosmia	skos:exactMatch	MIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	semapv:ManualMappingCuration	2014-09-02
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	skos:exactMatch	MIM:614880	{Hypogonadotropic hypogonadism 15 with or without anosmia}	semapv:ManualMappingCuration	2014-09-02
DOID:0090076	hypogonadotropic hypogonadism 18 with or without anosmia	skos:exactMatch	MIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia	semapv:ManualMappingCuration	2014-09-09
DOID:0090077	hypogonadotropic hypogonadism 4 with or without anosmia	skos:exactMatch	MIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	semapv:ManualMappingCuration	2019-01-02
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	skos:exactMatch	MIM:146110	Hypogonadotropic hypogonadism 7 without anosmia	semapv:ManualMappingCuration	2017-10-03
DOID:0090079	hypogonadotropic hypogonadism 17 with or without anosmia	skos:exactMatch	MIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia	semapv:ManualMappingCuration	2014-09-09
DOID:0090080	hypogonadotropic hypogonadism 16 with or without anosmia	skos:exactMatch	MIM:614897	{Hypogonadotropic hypogonadism 16 with or without anosmia}	semapv:ManualMappingCuration	2015-03-03
DOID:0090081	hypogonadotropic hypogonadism 22 with or without anosmia	skos:exactMatch	MIM:616030	Hypogonadotropic hypogonadism 22, with or without anosmia	semapv:ManualMappingCuration	2016-06-13
DOID:0090082	hypogonadotropic hypogonadism 20 with or without anosmia	skos:exactMatch	MIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia	semapv:ManualMappingCuration	2014-09-09
DOID:0090083	hypogonadotropic hypogonadism 2 with or without anosmia	skos:exactMatch	MIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	semapv:ManualMappingCuration	2017-12-12
DOID:0090084	hypogonadotropic hypogonadism 5 with or without anosmia	skos:exactMatch	MIM:612370	Hypogonadotropic hypogonadism 5 with or without anosmia	semapv:ManualMappingCuration	2018-01-03
DOID:0090085	hypogonadotropic hypogonadism 9 with or without anosmia	skos:exactMatch	MIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia	semapv:ManualMappingCuration	2014-09-02
DOID:0090086	hypogonadotropic hypogonadism 6 with or without anosmia	skos:exactMatch	MIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia	semapv:ManualMappingCuration	2019-08-30
DOID:0090087	hypogonadotropic hypogonadism 14 with or without anosmia	skos:exactMatch	MIM:614858	Hypogonadotropic hypogonadism 14 with or without anosmia	semapv:ManualMappingCuration	2014-09-02
DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia	skos:exactMatch	MIM:229070	Hypogonadotropic hypogonadism 24 without anosmia	semapv:ManualMappingCuration	2017-10-03
DOID:0090089	hypogonadotropic hypogonadism 10 with or without anosmia	skos:exactMatch	MIM:614839	Hypogonadotropic hypogonadism 10 with or without anosmia	semapv:ManualMappingCuration	2015-02-23
DOID:0090090	hypogonadotropic hypogonadism 19 with or without anosmia	skos:exactMatch	MIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia	semapv:ManualMappingCuration	2014-09-09
DOID:0090091	hypogonadotropic hypogonadism 23 with or without anosmia	skos:exactMatch	MIM:228300	Hypogonadotropic hypogonadism 23 with or without anosmia	semapv:ManualMappingCuration	2017-10-03
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	skos:exactMatch	MIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	semapv:ManualMappingCuration	2019-01-02
DOID:0090093	hypogonadotropic hypogonadism 21 with or without anosmia	skos:exactMatch	MIM:615271	Hypogonadotropic hypogonadism 21 with anosmia	semapv:ManualMappingCuration	2014-09-09
DOID:0090094	hypogonadotropic hypogonadism 1 with or without anosmia	skos:exactMatch	MIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)	semapv:ManualMappingCuration	2018-08-15
DOID:0090100	ocular albinism with sensorineural deafness	skos:exactMatch	MIM:300650	Ocular albinism with sensorineural deafness	semapv:ManualMappingCuration	2017-10-03
DOID:0090101	lethal congenital glycogen storage disease of heart	skos:exactMatch	MIM:261740	Glycogen storage disease of heart, lethal congenital	semapv:ManualMappingCuration	2017-10-03
DOID:0090102	autosomal dominant isolated macrothrombocytopenia 1	skos:exactMatch	MIM:613112	Macrothrombocytopenia, isolated, 1, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0090103	Huntington's disease-like 1	skos:exactMatch	MIM:603218	Huntington disease-like 1	semapv:ManualMappingCuration	2017-10-03
DOID:0090104	Huntington's disease-like 2	skos:exactMatch	MIM:606438	Huntington disease-like 2	semapv:ManualMappingCuration	2017-10-03
DOID:0090105	autosomal recessive hypercholesterolemia	skos:exactMatch	MIM:603813	Hypercholesterolemia, familial, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0090106	BH4-deficient hyperphenylalaninemia A	skos:exactMatch	MIM:261640	Hyperphenylalaninemia, BH4-deficient, A	semapv:ManualMappingCuration	2017-10-03
DOID:0090107	autosomal dominant hypocalcemia 1	skos:exactMatch	MIM:601198	Hypocalcemia, autosomal dominant	semapv:ManualMappingCuration	2014-10-20
DOID:0090108	autosomal dominant hypocalcemia 2	skos:exactMatch	MIM:615361	Hypocalcemia, autosomal dominant 2	semapv:ManualMappingCuration	2014-09-09
DOID:0090109	autosomal dominant hypocalcemia	skos:exactMatch	MIM:PS601198	Hypocalcemia, autosomal dominant	semapv:ManualMappingCuration	2018-01-04
DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	skos:exactMatch	MIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	semapv:ManualMappingCuration	2015-12-09
DOID:0090111	PCWH syndrome	skos:exactMatch	MIM:609136	PCWH syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090112	Nasu-Hakola disease	skos:exactMatch	MIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	semapv:ManualMappingCuration	2017-10-03
DOID:0090113	Riddle syndrome	skos:exactMatch	MIM:611943	RIDDLE syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090114	Sorsby's fundus dystrophy	skos:exactMatch	MIM:136900	Sorsby fundus dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0090115	spinocerebellar ataxia with axonal neuropathy 1	skos:exactMatch	MIM:607250	?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	semapv:ManualMappingCuration	2017-10-03
DOID:0090116	spondylocarpotarsal synostosis syndrome	skos:exactMatch	MIM:272460	Spondylocarpotarsal synostosis syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090117	thiamine-responsive megaloblastic anemia syndrome	skos:exactMatch	MIM:249270	Thiamine-responsive megaloblastic anemia syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090119	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	skos:exactMatch	MIM:106260	Hay-Wells syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090120	hereditary neutrophilia	skos:exactMatch	MIM:162830	?Neutrophilia, hereditary	semapv:ManualMappingCuration	2017-10-03
DOID:0090122	aromatase excess syndrome	skos:exactMatch	MIM:139300	Aromatase excess syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090122	aromatase excess syndrome	skos:exactMatch	MIM:613546	Aromatase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0090123	aromatic L-amino acid decarboxylase deficiency	skos:exactMatch	MIM:608643	Aromatic L-amino acid decarboxylase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2	skos:exactMatch	MIM:208100	?Arthrogryposis multiplex congenita 2, neurogenic type	semapv:ManualMappingCuration	2017-10-03
DOID:0090125	brain small vessel disease 1	skos:exactMatch	MIM:175780	Brain small vessel disease with or without ocular anomalies	semapv:ManualMappingCuration	2017-10-03
DOID:0090126	branched-chain keto acid dehydrogenase kinase deficiency	skos:exactMatch	MIM:614923	Branched-chain keto acid dehydrogenase kinase deficiency	semapv:ManualMappingCuration	2014-09-02
DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	skos:exactMatch	MIM:208250	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090128	Carvajal syndrome	skos:exactMatch	MIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma	semapv:ManualMappingCuration	2017-10-03
DOID:0090129	carnitine palmitoyltransferase I deficiency	skos:exactMatch	MIM:255120	CPT deficiency, hepatic, type IA	semapv:ManualMappingCuration	2017-10-03
DOID:0090130	cortical dysplasia-focal epilepsy syndrome	skos:exactMatch	MIM:610042	Pitt-Hopkins like syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0090131	complex cortical dysplasia with other brain malformations	skos:exactMatch	MIM:PS614039	Cortical dysplasia, complex, with other brain malformations 1	semapv:ManualMappingCuration	2018-06-29
DOID:0090132	complex cortical dysplasia with other brain malformations 7	skos:exactMatch	MIM:610031	Cortical dysplasia, complex, with other brain malformations 7	semapv:ManualMappingCuration	2014-06-23
DOID:0090133	complex cortical dysplasia with other brain malformations 2	skos:exactMatch	MIM:615282	Cortical dysplasia, complex, with other brain malformations 2	semapv:ManualMappingCuration	2014-09-09
DOID:0090134	complex cortical dysplasia with other brain malformations 3	skos:exactMatch	MIM:615411	Cortical dysplasia, complex, with other brain malformations 3	semapv:ManualMappingCuration	2014-09-09
DOID:0090135	complex cortical dysplasia with other brain malformations 5	skos:exactMatch	MIM:615763	Cortical dysplasia, complex, with other brain malformations 5	semapv:ManualMappingCuration	2015-07-01
DOID:0090136	complex cortical dysplasia with other brain malformations 6	skos:exactMatch	MIM:615771	Cortical dysplasia, complex, with other brain malformations 6	semapv:ManualMappingCuration	2014-09-09
DOID:0090137	complex cortical dysplasia with other brain malformations 1	skos:exactMatch	MIM:614039	Cortical dysplasia, complex, with other brain malformations 1	semapv:ManualMappingCuration	2014-09-09
DOID:0090138	complex cortical dysplasia with other brain malformations 4	skos:exactMatch	MIM:615412	Cortical dysplasia, complex, with other brain malformations 4	semapv:ManualMappingCuration	2014-09-09
DOID:0090139	cortisone reductase deficiency	skos:exactMatch	MIM:PS604931	Cortisone reductase deficiency 1	semapv:ManualMappingCuration	2018-06-29
DOID:0090140	cortisone reductase deficiency 2	skos:exactMatch	MIM:614662	Cortisone reductase deficiency 2	semapv:ManualMappingCuration	2014-09-09
DOID:0090141	cortisone reductase deficiency 1	skos:exactMatch	MIM:604931	Cortisone reductase deficiency 1	semapv:ManualMappingCuration	2018-07-31
DOID:0090142	cystathioninuria	skos:exactMatch	MIM:219500	Cystathioninuria	semapv:ManualMappingCuration	2017-10-03
DOID:0090143	brachyolmia-amelogenesis imperfecta syndrome	skos:exactMatch	MIM:601216	Dental anomalies and short stature	semapv:ManualMappingCuration	2017-10-03
DOID:0090144	Donnai-Barrow syndrome	skos:exactMatch	MIM:222448	Donnai-Barrow syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0090145	dopamine beta-hydroxylase deficiency	skos:exactMatch	MIM:223360	Orthostatic hypotension 1, due to DBH deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0110000	3-methylglutaconic aciduria type 5	skos:exactMatch	MIM:610198	3-methylglutaconic aciduria, type V	semapv:ManualMappingCuration	2017-10-03
DOID:0110001	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	skos:exactMatch	MIM:614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	semapv:ManualMappingCuration	2014-09-02
DOID:0110002	3-methylglutaconic aciduria type 1	skos:exactMatch	MIM:250950	3-methylglutaconic aciduria, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0110004	3-methylglutaconic aciduria type 3	skos:exactMatch	MIM:258501	3-methylglutaconic aciduria, type III	semapv:ManualMappingCuration	2017-10-03
DOID:0110005	Leber congenital amaurosis 9	skos:exactMatch	MIM:608553	Leber congenital amaurosis 9	semapv:ManualMappingCuration	2017-10-03
DOID:0110006	3-methylglutaconic aciduria type 4	skos:exactMatch	MIM:250951	3-METHYLGLUTACONIC ACIDURIA, TYPE IV	semapv:ManualMappingCuration	2018-08-22
DOID:0110007	achromatopsia 2	skos:exactMatch	MIM:216900	Achromatopsia 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110008	achromatopsia 3	skos:exactMatch	MIM:262300	Achromatopsia 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110009	achromatopsia 7	skos:exactMatch	MIM:616517	Achromatopsia 7	semapv:ManualMappingCuration	2017-02-14
DOID:0110010	achromatopsia 4	skos:exactMatch	MIM:613856	Achromatopsia 4	semapv:ManualMappingCuration	2014-10-20
DOID:0110011	advanced sleep phase syndrome 1	skos:exactMatch	MIM:604348	?Advanced sleep phase syndrome, familial, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110012	advanced sleep phase syndrome 2	skos:exactMatch	MIM:615224	Advanced sleep-phase syndrome, familial, 2	semapv:ManualMappingCuration	2014-09-09
DOID:0110013	advanced sleep phase syndrome 3	skos:exactMatch	MIM:616882	?Advanced sleep phase syndrome, familial, 3	semapv:ManualMappingCuration	2017-08-08
DOID:0110014	age related macular degeneration 1	skos:exactMatch	MIM:603075	{Macular degeneration, age-related, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:0110015	age related macular degeneration 2	skos:exactMatch	MIM:153800	{Macular degeneration, age-related, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:0110016	Leber congenital amaurosis 2	skos:exactMatch	MIM:204100	Leber congenital amaurosis 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110017	age related macular degeneration 4	skos:exactMatch	MIM:610698	{Macular degeneration, age-related, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:0110018	age related macular degeneration 6	skos:exactMatch	MIM:613757	?Macular degeneration, age-related, 6	semapv:ManualMappingCuration	2014-10-20
DOID:0110019	age related macular degeneration 7	skos:exactMatch	MIM:610149	{Macular degeneration, age-related, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:0110020	age related macular degeneration 8	skos:exactMatch	MIM:613778	{Macular degeneration, age-related, 8}	semapv:ManualMappingCuration	2015-09-18
DOID:0110021	age related macular degeneration 9	skos:exactMatch	MIM:611378	{Macular degeneration, age-related, 9}	semapv:ManualMappingCuration	2017-10-03
DOID:0110022	age related macular degeneration 10	skos:exactMatch	MIM:611488	Macular degeneration, age-related, 10	semapv:ManualMappingCuration	2017-10-03
DOID:0110023	age related macular degeneration 11	skos:exactMatch	MIM:611953	{Macular degeneration, age-related, 11}	semapv:ManualMappingCuration	2017-10-03
DOID:0110024	age related macular degeneration 12	skos:exactMatch	MIM:613784	{Macular degeneration, age-related, 12}	semapv:ManualMappingCuration	2017-09-19
DOID:0110025	age related macular degeneration 13	skos:exactMatch	MIM:615439	{Macular degeneration, age-related, 13, susceptibility to}	semapv:ManualMappingCuration	2014-09-09
DOID:0110026	age related macular degeneration 14	skos:exactMatch	MIM:615489	{Macular degeneration, age-related, 14, reduced risk of}	semapv:ManualMappingCuration	2014-10-16
DOID:0110027	age related macular degeneration 15	skos:exactMatch	MIM:615591	{Macular degeneration, age-related, 15, susceptibility to}	semapv:ManualMappingCuration	2015-07-06
DOID:0110028	age related macular degeneration 5	skos:exactMatch	MIM:613761	{Macular degeneration, age-related, susceptibility to, 5}	semapv:ManualMappingCuration	2014-10-16
DOID:0110029	alpha thalassemia-intellectual disability syndrome type 1	skos:exactMatch	MIM:141750	Alpha-thalassemia/impaired intellectual development syndrome, deletion type	semapv:ManualMappingCuration	2017-10-03
DOID:0110030	alpha thalassemia-X-linked intellectual disability syndrome	skos:exactMatch	MIM:301040	Alpha-thalassemia/impaired intellectual development syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0110031	hemoglobin H disease	skos:exactMatch	MIM:613978	Hemoglobin H disease, deletional and nondeletional	semapv:ManualMappingCuration	2017-10-17
DOID:0110032	autosomal dominant Alport syndrome	skos:exactMatch	MIM:104200	Alport syndrome 3A, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110033	autosomal recessive Alport syndrome	skos:exactMatch	MIM:203780	Alport syndrome 2, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110033	autosomal recessive Alport syndrome	skos:exactMatch	MIM:620536	Alport syndrome 3B, autosomal recessive	semapv:ManualMappingCuration	2023-10-09
DOID:0110034	X-linked Alport syndrome	skos:exactMatch	MIM:301050	Alport syndrome 1, X-linked	semapv:ManualMappingCuration	2014-06-23
DOID:0110035	Alzheimer's disease 2	skos:exactMatch	MIM:104310	Alzheimer disease 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110036	Alzheimer's disease 16	skos:exactMatch	MIM:300756	{Alzheimer disease 16}	semapv:ManualMappingCuration	2017-10-03
DOID:0110037	Alzheimer's disease 5	skos:exactMatch	MIM:602096	Alzheimer disease-5	semapv:ManualMappingCuration	2017-10-03
DOID:0110038	Alzheimer's disease 6	skos:exactMatch	MIM:605526	Alzheimer disease 6	semapv:ManualMappingCuration	2017-10-03
DOID:0110039	Alzheimer's disease 7	skos:exactMatch	MIM:606187	Alzheimer disease-7	semapv:ManualMappingCuration	2017-10-03
DOID:0110040	Alzheimer's disease 4	skos:exactMatch	MIM:606889	Alzheimer disease-4	semapv:ManualMappingCuration	2017-10-03
DOID:0110041	Alzheimer's disease 8	skos:exactMatch	MIM:607116	Alzheimer disease 8	semapv:ManualMappingCuration	2017-10-03
DOID:0110042	Alzheimer's disease 3	skos:exactMatch	MIM:607822	Alzheimer disease, type 3, with or without spastic paraparesis	semapv:ManualMappingCuration	2017-10-03
DOID:0110043	Alzheimer's disease 10	skos:exactMatch	MIM:609636	Alzheimer disease-10	semapv:ManualMappingCuration	2017-10-03
DOID:0110044	Alzheimer's disease 11	skos:exactMatch	MIM:609790	Alzheimer disease-11	semapv:ManualMappingCuration	2017-10-03
DOID:0110045	Alzheimer's disease 12	skos:exactMatch	MIM:611073	{Alzheimer disease 12}	semapv:ManualMappingCuration	2017-10-03
DOID:0110046	Alzheimer's disease 13	skos:exactMatch	MIM:611152	{Alzheimer disease-13}	semapv:ManualMappingCuration	2017-10-03
DOID:0110047	Alzheimer's disease 14	skos:exactMatch	MIM:611154	{Alzheimer disease-14}	semapv:ManualMappingCuration	2017-10-03
DOID:0110048	Alzheimer's disease 15	skos:exactMatch	MIM:604154	{Alzheimer disease-15}	semapv:ManualMappingCuration	2018-08-22
DOID:0110049	Alzheimer's disease 17	skos:exactMatch	MIM:615080	{Alzhieimer disease 17, susceptibility to}	semapv:ManualMappingCuration	2017-09-01
DOID:0110050	Alzheimer's disease 18	skos:exactMatch	MIM:615590	{Alzheimer disease 18, susceptibility to}	semapv:ManualMappingCuration	2015-06-30
DOID:0110051	Alzheimer's disease 19	skos:exactMatch	MIM:615711	ALZHEIMER DISEASE 19	semapv:ManualMappingCuration	2017-02-14
DOID:0110052	amelogenesis imperfecta type 1B	skos:exactMatch	MIM:104500	Amelogenesis imperfecta, type IB	semapv:ManualMappingCuration	2017-10-03
DOID:0110053	amelogenesis imperfecta type 4	skos:exactMatch	MIM:104510	Amelogenesis imperfecta, type IV	semapv:ManualMappingCuration	2017-10-03
DOID:0110054	amelogenesis imperfecta type 1A	skos:exactMatch	MIM:104530	Amelogenesis imperfecta, type IA	semapv:ManualMappingCuration	2017-10-03
DOID:0110055	amelogenesis imperfecta type 3A	skos:exactMatch	MIM:130900	Amelogenesis imperfecta, type IIIA	semapv:ManualMappingCuration	2017-10-03
DOID:0110056	amelogenesis imperfecta type 1C	skos:exactMatch	MIM:204650	Amelogenesis imperfecta, type IC	semapv:ManualMappingCuration	2017-10-03
DOID:0110057	amelogenesis imperfecta type 2A1	skos:exactMatch	MIM:204700	Amelogenesis imperfecta, type IIA1	semapv:ManualMappingCuration	2017-10-03
DOID:0110058	amelogenesis imperfecta type 1E	skos:exactMatch	MIM:301200	Amelogenesis imperfecta, type 1E	semapv:ManualMappingCuration	2017-10-03
DOID:0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	skos:exactMatch	MIM:301201	?Amelogenesis imperfecta, type IE, X-linked 2	semapv:ManualMappingCuration	2014-06-23
DOID:0110060	amelogenesis imperfecta hypomaturation type 2A2	skos:exactMatch	MIM:612529	Amelogenesis imperfecta, type IIA2	semapv:ManualMappingCuration	2017-10-03
DOID:0110061	amelogenesis imperfecta hypomaturation type 2A3	skos:exactMatch	MIM:613211	Amelogenesis imperfecta, type IIA3	semapv:ManualMappingCuration	2017-10-03
DOID:0110062	amelogenesis imperfecta hypomaturation type 2A4	skos:exactMatch	MIM:614832	Amelogenesis imperfecta, type IIA4	semapv:ManualMappingCuration	2014-09-02
DOID:0110063	amelogenesis imperfecta hypomaturation type 2A5	skos:exactMatch	MIM:615887	Amelogenesis imperfecta, type IIA5	semapv:ManualMappingCuration	2017-02-14
DOID:0110064	amelogenesis imperfecta type 1H	skos:exactMatch	MIM:616221	Amelogenesis imperfecta, type IH	semapv:ManualMappingCuration	2017-02-14
DOID:0110065	amelogenesis imperfecta type 1F	skos:exactMatch	MIM:616270	Amelogenesis imperfecta, type IF	semapv:ManualMappingCuration	2017-02-14
DOID:0110066	amelogenesis imperfecta type 1G	skos:exactMatch	MIM:204690	Amelogenesis imperfecta, type IG (enamel-renal syndrome)	semapv:ManualMappingCuration	2017-10-10
DOID:0110067	juvenile amyotrophic lateral sclerosis with dementia	skos:exactMatch	MIM:205200	AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA	semapv:ManualMappingCuration	2018-08-22
DOID:0110068	frontotemporal dementia and/or amyotrophic lateral sclerosis 3	skos:exactMatch	MIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	semapv:ManualMappingCuration	2015-08-11
DOID:0110069	frontotemporal dementia and/or amyotrophic lateral sclerosis 4	skos:exactMatch	MIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	semapv:ManualMappingCuration	2017-02-16
DOID:0110070	arrhythmogenic right ventricular dysplasia 1	skos:exactMatch	MIM:107970	Arrhythmogenic right ventricular dysplasia 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110072	arrhythmogenic right ventricular dysplasia 3	skos:exactMatch	MIM:602086	Arrhythmogenic right ventricular dysplasia 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110073	arrhythmogenic right ventricular dysplasia 4	skos:exactMatch	MIM:602087	Arrhythmogenic right ventricular dysplasia 4	semapv:ManualMappingCuration	2017-10-03
DOID:0110074	arrhythmogenic right ventricular dysplasia 5	skos:exactMatch	MIM:604400	Arrhythmogenic right ventricular dysplasia 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110075	arrhythmogenic right ventricular dysplasia 6	skos:exactMatch	MIM:604401	Arrhythmogenic right ventricular dysplasia 6	semapv:ManualMappingCuration	2017-10-03
DOID:0110076	arrhythmogenic right ventricular dysplasia 8	skos:exactMatch	MIM:607450	Arrhythmogenic right ventricular dysplasia 8	semapv:ManualMappingCuration	2017-10-03
DOID:0110077	arrhythmogenic right ventricular dysplasia 9	skos:exactMatch	MIM:609040	Arrhythmogenic right ventricular dysplasia 9	semapv:ManualMappingCuration	2017-10-03
DOID:0110078	Leber congenital amaurosis 1	skos:exactMatch	MIM:204000	Leber congenital amaurosis 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110079	Leber congenital amaurosis 8	skos:exactMatch	MIM:613835	Leber congenital amaurosis 8	semapv:ManualMappingCuration	2014-09-09
DOID:0110080	Leber congenital amaurosis 12	skos:exactMatch	MIM:610612	Leber congenital amaurosis 12	semapv:ManualMappingCuration	2017-10-03
DOID:0110081	arrhythmogenic right ventricular dysplasia 10	skos:exactMatch	MIM:610193	Arrhythmogenic right ventricular dysplasia 10	semapv:ManualMappingCuration	2017-10-03
DOID:0110082	arrhythmogenic right ventricular dysplasia 11	skos:exactMatch	MIM:610476	Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair	semapv:ManualMappingCuration	2017-10-03
DOID:0110083	arrhythmogenic right ventricular dysplasia 12	skos:exactMatch	MIM:611528	?Arrhythmogenic right ventricular dysplasia 12	semapv:ManualMappingCuration	2017-10-03
DOID:0110084	arrhythmogenic right ventricular dysplasia 13	skos:exactMatch	MIM:615616	Arrhythmogenic right ventricular dysplasia 13	semapv:ManualMappingCuration	2014-09-09
DOID:0110085	asphyxiating thoracic dystrophy 1	skos:exactMatch	MIM:208500	Short-rib thoracic dysplasia 1 with or without polydactyly	semapv:ManualMappingCuration	2017-10-03
DOID:0110086	asphyxiating thoracic dystrophy 2	skos:exactMatch	MIM:611263	Short-rib thoracic dysplasia 2 with or without polydactyly	semapv:ManualMappingCuration	2017-10-03
DOID:0110087	asphyxiating thoracic dystrophy 3	skos:exactMatch	MIM:613091	Short-rib thoracic dysplasia 3 with or without polydactyly	semapv:ManualMappingCuration	2017-10-03
DOID:0110088	asphyxiating thoracic dystrophy 4	skos:exactMatch	MIM:613819	Short-rib thoracic dysplasia 4 with or without polydactyly	semapv:ManualMappingCuration	2014-09-02
DOID:0110089	asphyxiating thoracic dystrophy 5	skos:exactMatch	MIM:614376	Short-rib thoracic dysplasia 5 with or without polydactyly	semapv:ManualMappingCuration	2014-09-02
DOID:0110090	short-rib thoracic dysplasia 7 with or without polydactyly	skos:exactMatch	MIM:614091	Short-rib thoracic dysplasia 7 with or without polydactyly	semapv:ManualMappingCuration	2014-09-09
DOID:0110091	short-rib thoracic dysplasia 10 with or without polydactyly	skos:exactMatch	MIM:615630	Short-rib thoracic dysplasia 10 with or without polydactyly	semapv:ManualMappingCuration	2014-09-09
DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly	skos:exactMatch	MIM:263520	Short-rib thoracic dysplasia 6 with or without polydactyly	semapv:ManualMappingCuration	2018-05-25
DOID:0110093	short-rib thoracic dysplasia 13 with or without polydactyly	skos:exactMatch	MIM:616300	Short-rib thoracic dysplasia 13 with or without polydactyly	semapv:ManualMappingCuration	2017-04-06
DOID:0110094	short-rib thoracic dysplasia 8 with or without polydactyly	skos:exactMatch	MIM:615503	Short-rib thoracic dysplasia 8 with or without polydactyly	semapv:ManualMappingCuration	2014-09-09
DOID:0110095	short-rib thoracic dysplasia 11 with or without polydactyly	skos:exactMatch	MIM:615633	Short-rib thoracic dysplasia 11 with or without polydactyly	semapv:ManualMappingCuration	2014-09-09
DOID:0110096	short-rib thoracic dysplasia 14 with polydactyly	skos:exactMatch	MIM:616546	Short-rib thoracic dysplasia 14 with polydactyly	semapv:ManualMappingCuration	2017-04-06
DOID:0110097	short-rib thoracic dysplasia 9 with or without polydactyly	skos:exactMatch	MIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	semapv:ManualMappingCuration	2014-10-20
DOID:0110098	atopic dermatitis 2	skos:exactMatch	MIM:605803	{Dermatitis, atopic, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:0110099	atopic dermatitis 3	skos:exactMatch	MIM:605804	{Dermatitis, atopic, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:0110100	atopic dermatitis 4	skos:exactMatch	MIM:605805	{Dermatitis, atopic, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:0110101	atopic dermatitis 5	skos:exactMatch	MIM:605844	{Dermatitis, atopic, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:0110102	atopic dermatitis 6	skos:exactMatch	MIM:605845	{Dermatitis, atopic, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:0110103	atopic dermatitis 7	skos:exactMatch	MIM:613064	{Dermatitis, atopic, susceptibility to, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:0110104	atopic dermatitis 8	skos:exactMatch	MIM:613518	{Dermatitis, atopic, susceptibility to, 8}	semapv:ManualMappingCuration	2018-08-21
DOID:0110105	atopic dermatitis 9	skos:exactMatch	MIM:613519	{Dermatitis, atopic, susceptibility to, 9}	semapv:ManualMappingCuration	2018-08-21
DOID:0110106	atrial heart septal defect 1	skos:exactMatch	MIM:108800	Atrial septal defect 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110107	atrial heart septal defect 2	skos:exactMatch	MIM:607941	Atrial septal defect 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110108	atrial heart septal defect 3	skos:exactMatch	MIM:614089	?Atrial septal defect 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110109	atrial heart septal defect 4	skos:exactMatch	MIM:611363	Atrial septal defect 4	semapv:ManualMappingCuration	2017-10-03
DOID:0110110	atrial heart septal defect 5	skos:exactMatch	MIM:612794	Atrial septal defect 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110111	atrial heart septal defect 6	skos:exactMatch	MIM:613087	Atrial septal defect 6	semapv:ManualMappingCuration	2017-10-03
DOID:0110112	atrial heart septal defect 7	skos:exactMatch	MIM:108900	Atrial septal defect 7, with or without AV conduction defects	semapv:ManualMappingCuration	2014-06-23
DOID:0110113	atrial heart septal defect 8	skos:exactMatch	MIM:614433	Atrial septal defect 8	semapv:ManualMappingCuration	2014-09-02
DOID:0110114	atrial heart septal defect 9	skos:exactMatch	MIM:614475	Atrial septal defect 9	semapv:ManualMappingCuration	2014-09-02
DOID:0110115	autoimmune lymphoproliferative syndrome type 2A	skos:exactMatch	MIM:603909	Autoimmune lymphoproliferative syndrome, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0110116	autoimmune lymphoproliferative syndrome type 2B	skos:exactMatch	MIM:607271	?Caspase 8 lymphadenopathy syndrome	semapv:ManualMappingCuration	2018-03-26
DOID:0110117	autoimmune lymphoproliferative syndrome type 4	skos:exactMatch	MIM:614470	RAS-associated autoimmune leukoproliferative disorder	semapv:ManualMappingCuration	2014-09-02
DOID:0110118	Leber congenital amaurosis 16	skos:exactMatch	MIM:614186	Leber congenital amaurosis 16	semapv:ManualMappingCuration	2014-09-09
DOID:0110119	autoimmune lymphoproliferative syndrome type 3	skos:exactMatch	MIM:615559	Autoimmune lymphoproliferative syndrome, type III	semapv:ManualMappingCuration	2017-02-15
DOID:0110120	Axenfeld-Rieger syndrome type 1	skos:exactMatch	MIM:180500	Axenfeld-Rieger syndrome, type 1	semapv:ManualMappingCuration	2014-06-23
DOID:0110121	Axenfeld-Rieger syndrome type 2	skos:exactMatch	MIM:601499	Rieger syndrome, type 2	semapv:ManualMappingCuration	2014-06-23
DOID:0110122	Axenfeld-Rieger syndrome type 3	skos:exactMatch	MIM:602482	Axenfeld-Rieger syndrome, type 3	semapv:ManualMappingCuration	2014-06-23
DOID:0110123	Bardet-Biedl syndrome 1	skos:exactMatch	MIM:209900	{Bardet-Biedl syndrome 1, modifier of}	semapv:ManualMappingCuration	2017-10-03
DOID:0110124	Bardet-Biedl syndrome 2	skos:exactMatch	MIM:615981	Bardet-Biedl syndrome 2	semapv:ManualMappingCuration	2017-10-10
DOID:0110125	Bardet-Biedl syndrome 3	skos:exactMatch	MIM:600151	Bardet-Biedl syndrome 3	semapv:ManualMappingCuration	2017-10-10
DOID:0110126	Bardet-Biedl syndrome 4	skos:exactMatch	MIM:615982	Bardet-Biedl syndrome 4	semapv:ManualMappingCuration	2017-05-26
DOID:0110127	Bardet-Biedl syndrome 5	skos:exactMatch	MIM:615983	Bardet-Biedl syndrome 5	semapv:ManualMappingCuration	2017-02-24
DOID:0110128	Bardet-Biedl syndrome 6	skos:exactMatch	MIM:605231	Bardet-Biedl syndrome 6	semapv:ManualMappingCuration	2017-10-10
DOID:0110129	Bardet-Biedl syndrome 7	skos:exactMatch	MIM:615984	Bardet-Biedl syndrome 7	semapv:ManualMappingCuration	2017-10-10
DOID:0110130	Bardet-Biedl syndrome 8	skos:exactMatch	MIM:615985	Bardet-Biedl syndrome 8	semapv:ManualMappingCuration	2017-10-10
DOID:0110131	Bardet-Biedl syndrome 9	skos:exactMatch	MIM:615986	Bardet-Biedl syndrome 9	semapv:ManualMappingCuration	2017-10-10
DOID:0110132	Bardet-Biedl syndrome 10	skos:exactMatch	MIM:615987	Bardet-Biedl syndrome 10	semapv:ManualMappingCuration	2017-10-10
DOID:0110133	Bardet-Biedl syndrome 11	skos:exactMatch	MIM:615988	?Bardet-Biedl syndrome 11	semapv:ManualMappingCuration	2017-10-10
DOID:0110134	Bardet-Biedl syndrome 12	skos:exactMatch	MIM:615989	Bardet-Biedl syndrome 12	semapv:ManualMappingCuration	2017-10-10
DOID:0110135	Bardet-Biedl syndrome 13	skos:exactMatch	MIM:615990	Bardet-Biedl syndrome 13	semapv:ManualMappingCuration	2017-10-10
DOID:0110136	Bardet-Biedl syndrome 14	skos:exactMatch	MIM:615991	?Bardet-Biedl syndrome 14	semapv:ManualMappingCuration	2017-10-10
DOID:0110137	Bardet-Biedl syndrome 15	skos:exactMatch	MIM:615992	Bardet-Biedl syndrome 15	semapv:ManualMappingCuration	2017-02-24
DOID:0110138	Bardet-Biedl syndrome 16	skos:exactMatch	MIM:615993	Bardet-Biedl syndrome 16	semapv:ManualMappingCuration	2016-09-06
DOID:0110139	Bardet-Biedl syndrome 17	skos:exactMatch	MIM:615994	Bardet-Biedl syndrome 17	semapv:ManualMappingCuration	2014-11-21
DOID:0110140	Bardet-Biedl syndrome 18	skos:exactMatch	MIM:615995	Bardet-Biedl syndrome 18	semapv:ManualMappingCuration	2014-11-21
DOID:0110141	Bardet-Biedl syndrome 19	skos:exactMatch	MIM:615996	Bardet-Biedl syndrome 19	semapv:ManualMappingCuration	2017-02-24
DOID:0110142	Bartter disease type 1	skos:exactMatch	MIM:601678	Bartter syndrome, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110143	Bartter disease type 2	skos:exactMatch	MIM:241200	Bartter syndrome, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110144	Bartter disease type 3	skos:exactMatch	MIM:607364	Bartter syndrome, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110145	Bartter disease type 4A	skos:exactMatch	MIM:602522	Bartter syndrome, type 4a	semapv:ManualMappingCuration	2017-10-03
DOID:0110146	Bartter disease type 4b	skos:exactMatch	MIM:613090	Bartter syndrome, type 4b, digenic	semapv:ManualMappingCuration	2017-10-03
DOID:0110147	Bartter disease type 5	skos:exactMatch	MIM:300971	Bartter syndrome, type 5, antenatal, transient	semapv:ManualMappingCuration	2016-06-08
DOID:0110148	Charcot-Marie-Tooth disease type 1A	skos:exactMatch	MIM:118220	Charcot-Marie-Tooth disease, type 1A	semapv:ManualMappingCuration	2017-09-18
DOID:0110149	Charcot-Marie-Tooth disease type 1F	skos:exactMatch	MIM:607734	Charcot-Marie-Tooth disease, type 1F	semapv:ManualMappingCuration	2017-10-03
DOID:0110150	Charcot-Marie-Tooth disease type 1D	skos:exactMatch	MIM:607678	Charcot-Marie-Tooth disease, type 1D	semapv:ManualMappingCuration	2017-10-03
DOID:0110151	Charcot-Marie-Tooth disease type 1C	skos:exactMatch	MIM:601098	Charcot-Marie-Tooth disease, type 1C	semapv:ManualMappingCuration	2017-10-03
DOID:0110152	Charcot-Marie-Tooth disease type 1B	skos:exactMatch	MIM:118200	Charcot-Marie-Tooth disease, type 1B	semapv:ManualMappingCuration	2017-09-18
DOID:0110153	Charcot-Marie-Tooth disease type 1E	skos:exactMatch	MIM:118300	Charcot-Marie-Tooth disease, type 1E	semapv:ManualMappingCuration	2017-10-03
DOID:0110153	Charcot-Marie-Tooth disease type 1E	skos:exactMatch	MIM:214370	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED FIBERS	semapv:ManualMappingCuration	2019-04-16
DOID:0110154	Charcot-Marie-Tooth disease type 2A1	skos:exactMatch	MIM:118210	Charcot-Marie-Tooth disease, type 2A1	semapv:ManualMappingCuration	2017-10-03
DOID:0110155	Charcot-Marie-Tooth disease type 2A2A	skos:exactMatch	MIM:609260	Charcot-Marie-Tooth disease, axonal, type 2A2A	semapv:ManualMappingCuration	2019-07-02
DOID:0110156	Charcot-Marie-Tooth disease type 2B1	skos:exactMatch	MIM:605588	Charcot-Marie-Tooth disease, type 2B1	semapv:ManualMappingCuration	2017-10-03
DOID:0110157	Charcot-Marie-Tooth disease type 2J	skos:exactMatch	MIM:607736	Charcot-Marie-Tooth disease, type 2J	semapv:ManualMappingCuration	2017-10-03
DOID:0110158	Charcot-Marie-Tooth disease type 2I	skos:exactMatch	MIM:607677	Charcot-Marie-Tooth disease, type 2I	semapv:ManualMappingCuration	2017-10-03
DOID:0110159	Charcot-Marie-Tooth disease type 2B	skos:exactMatch	MIM:600882	Charcot-Marie-Tooth disease, type 2B	semapv:ManualMappingCuration	2017-10-03
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T	skos:exactMatch	MIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	semapv:ManualMappingCuration	2015-11-10
DOID:0110161	Charcot-Marie-Tooth disease type 2R	skos:exactMatch	MIM:615490	Charcot-Marie-Tooth disease, type 2R	semapv:ManualMappingCuration	2014-09-09
DOID:0110162	Charcot-Marie-Tooth disease, axonal type 2W	skos:exactMatch	MIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W	semapv:ManualMappingCuration	2017-02-27
DOID:0110163	Charcot-Marie-Tooth disease axonal type 2F	skos:exactMatch	MIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	semapv:ManualMappingCuration	2017-10-03
DOID:0110164	Charcot-Marie-Tooth disease type 2D	skos:exactMatch	MIM:601472	Charcot-Marie-Tooth disease, type 2D	semapv:ManualMappingCuration	2017-10-03
DOID:0110165	Charcot-Marie-Tooth disease type 2E	skos:exactMatch	MIM:607684	Charcot-Marie-Tooth disease, type 2E	semapv:ManualMappingCuration	2017-10-03
DOID:0110166	Charcot-Marie-Tooth disease axonal type 2H	skos:exactMatch	MIM:607731	Charcot-Marie-Tooth disease, axonal, type 2H	semapv:ManualMappingCuration	2017-10-03
DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K	skos:exactMatch	MIM:607831	{?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, modifier of}	semapv:ManualMappingCuration	2017-10-03
DOID:0110168	Charcot-Marie-Tooth disease type 2Y	skos:exactMatch	MIM:616687	Charcot-Marie-Tooth disease, type 2Y	semapv:ManualMappingCuration	2016-01-13
DOID:0110169	Charcot-Marie-Tooth disease axonal type 2P	skos:exactMatch	MIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	semapv:ManualMappingCuration	2014-09-09
DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q	skos:exactMatch	MIM:615025	?Charcot-Marie-Tooth disease, axonal, type 2Q	semapv:ManualMappingCuration	2015-06-08
DOID:0110171	Charcot-Marie-Tooth disease axonal type 2S	skos:exactMatch	MIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	semapv:ManualMappingCuration	2015-11-10
DOID:0110173	Charcot-Marie-Tooth disease axonal type 2U	skos:exactMatch	MIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U	semapv:ManualMappingCuration	2015-11-10
DOID:0110174	Charcot-Marie-Tooth disease axonal type 2L	skos:exactMatch	MIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	semapv:ManualMappingCuration	2014-06-23
DOID:0110175	Charcot-Marie-Tooth disease axonal type 2O	skos:exactMatch	MIM:614228	Charcot-Marie-Tooth disease, axonal, type 2O	semapv:ManualMappingCuration	2014-09-09
DOID:0110176	Charcot-Marie-Tooth disease axonal type 2X	skos:exactMatch	MIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	semapv:ManualMappingCuration	2016-01-13
DOID:0110177	Charcot-Marie-Tooth disease axonal type 2N	skos:exactMatch	MIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	semapv:ManualMappingCuration	2017-10-03
DOID:0110178	Charcot-Marie-Tooth disease axonal type 2V	skos:exactMatch	MIM:616491	?Charcot-Marie-Tooth disease, axonal, type 2V	semapv:ManualMappingCuration	2017-02-27
DOID:0110179	Charcot-Marie-Tooth disease type 2B2	skos:exactMatch	MIM:605589	?Charcot-Marie-Tooth disease, type 2B2	semapv:ManualMappingCuration	2017-10-03
DOID:0110180	Charcot-Marie-Tooth disease axonal type 2CC	skos:exactMatch	MIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC	semapv:ManualMappingCuration	2016-05-13
DOID:0110181	Charcot-Marie-Tooth disease axonal type 2Z	skos:exactMatch	MIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	semapv:ManualMappingCuration	2016-01-13
DOID:0110182	Charcot-Marie-Tooth disease axonal type 2C	skos:exactMatch	MIM:606071	Hereditary motor and sensory neuropathy, type IIc	semapv:ManualMappingCuration	2017-10-03
DOID:0110183	Charcot-Marie-Tooth disease type 4C	skos:exactMatch	MIM:601596	Charcot-Marie-Tooth disease, type 4C	semapv:ManualMappingCuration	2017-10-03
DOID:0110184	Charcot-Marie-Tooth disease type 4J	skos:exactMatch	MIM:611228	Charcot-Marie-Tooth disease, type 4J	semapv:ManualMappingCuration	2017-10-03
DOID:0110185	Charcot-Marie-Tooth disease type 4A	skos:exactMatch	MIM:214400	Charcot-Marie-Tooth disease, type 4A	semapv:ManualMappingCuration	2017-10-03
DOID:0110186	Charcot-Marie-Tooth disease type 4D	skos:exactMatch	MIM:601455	Charcot-Marie-Tooth disease, type 4D	semapv:ManualMappingCuration	2017-10-03
DOID:0110187	Charcot-Marie-Tooth disease type 4K	skos:exactMatch	MIM:616684	Charcot-Marie-Tooth disease, type 4K	semapv:ManualMappingCuration	2016-01-13
DOID:0110188	Leber congenital amaurosis 14	skos:exactMatch	MIM:613341	Leber congenital amaurosis 14	semapv:ManualMappingCuration	2017-10-03
DOID:0110189	Leber congenital amaurosis 15	skos:exactMatch	MIM:613843	Leber congenital amaurosis 15	semapv:ManualMappingCuration	2014-06-23
DOID:0110190	Charcot-Marie-Tooth disease type 4B2	skos:exactMatch	MIM:604563	Charcot-Marie-Tooth disease, type 4B2	semapv:ManualMappingCuration	2017-10-03
DOID:0110191	Charcot-Marie-Tooth disease type 4B1	skos:exactMatch	MIM:601382	Charcot-Marie-Tooth disease, type 4B1	semapv:ManualMappingCuration	2017-10-03
DOID:0110192	Charcot-Marie-Tooth disease type 4H	skos:exactMatch	MIM:609311	Charcot-Marie-Tooth disease, type 4H	semapv:ManualMappingCuration	2017-10-03
DOID:0110193	Charcot-Marie-Tooth disease type 4F	skos:exactMatch	MIM:614895	Charcot-Marie-Tooth disease, type 4F	semapv:ManualMappingCuration	2014-09-09
DOID:0110194	Charcot-Marie-Tooth disease type 4B3	skos:exactMatch	MIM:615284	Charcot-Marie-Tooth disease, type 4B3	semapv:ManualMappingCuration	2014-09-09
DOID:0110195	Charcot-Marie-Tooth disease type 4E	skos:exactMatch	MIM:605253	Hypomyelinating neuropathy, congenital, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110196	Charcot-Marie-Tooth disease type 4G	skos:exactMatch	MIM:605285	Neuropathy, hereditary motor and sensory, Russe type	semapv:ManualMappingCuration	2017-10-03
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B	skos:exactMatch	MIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	semapv:ManualMappingCuration	2017-10-03
DOID:0110198	Charcot-Marie-Tooth disease recessive intermediate C	skos:exactMatch	MIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C	semapv:ManualMappingCuration	2014-09-09
DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C	skos:exactMatch	MIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C	semapv:ManualMappingCuration	2017-10-03
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D	skos:exactMatch	MIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D	semapv:ManualMappingCuration	2017-10-03
DOID:0110201	Charcot-Marie-Tooth disease recessive intermediate A	skos:exactMatch	MIM:608340	Charcot-Marie-Tooth disease, recessive intermediate, A	semapv:ManualMappingCuration	2017-10-03
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A	skos:exactMatch	MIM:606483	Charcot-Marie-Tooth disease, axonal, type 2GG	semapv:ManualMappingCuration	2017-10-03
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A	skos:exactMatch	MIM:620378	Charcot-Marie-Tooth disease, dominant intermediate A	semapv:ManualMappingCuration	2023-05-30
DOID:0110203	Charcot-Marie-Tooth disease recessive intermediate D	skos:exactMatch	MIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	semapv:ManualMappingCuration	2017-02-27
DOID:0110204	Charcot-Marie-Tooth disease recessive intermediate B	skos:exactMatch	MIM:613641	?Charcot-Marie-Tooth disease, recessive intermediate, B	semapv:ManualMappingCuration	2014-06-23
DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E	skos:exactMatch	MIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	semapv:ManualMappingCuration	2014-09-09
DOID:0110206	Charcot-Marie-Tooth disease dominant intermediate F	skos:exactMatch	MIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F	semapv:ManualMappingCuration	2014-09-09
DOID:0110207	Charcot-Marie-Tooth disease X-linked dominant 6	skos:exactMatch	MIM:300905	?Charcot-Marie-Tooth disease, X-linked dominant, 6	semapv:ManualMappingCuration	2014-09-02
DOID:0110208	Charcot-Marie-Tooth disease X-linked recessive 2	skos:exactMatch	MIM:302801	Charcot-Marie-Tooth neuropathy, X-linked recessive, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110209	Charcot-Marie-Tooth disease X-linked dominant 1	skos:exactMatch	MIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110210	Charcot-Marie-Tooth disease X-linked recessive 5	skos:exactMatch	MIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110211	Charcot-Marie-Tooth disease X-linked recessive 3	skos:exactMatch	MIM:302802	Charcot-Marie-Tooth neuropathy, X-linked recessive, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4	skos:exactMatch	MIM:310490	Cowchock syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0110214	cleft soft palate	skos:exactMatch	MIM:119570	CLEFT SOFT PALATE	semapv:ManualMappingCuration	2018-08-21
DOID:0110215	Leber congenital amaurosis 5	skos:exactMatch	MIM:604537	Leber congenital amaurosis 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110216	Leber congenital amaurosis 11	skos:exactMatch	MIM:613837	Leber congenital amaurosis 11	semapv:ManualMappingCuration	2014-10-20
DOID:0110217	Leber congenital amaurosis 17	skos:exactMatch	MIM:615360	Leber congenital amaurosis 17	semapv:ManualMappingCuration	2014-09-09
DOID:0110218	Brugada syndrome 1	skos:exactMatch	MIM:601144	Brugada syndrome 1	semapv:ManualMappingCuration	2018-07-26
DOID:0110219	Brugada syndrome 2	skos:exactMatch	MIM:611777	Brugada syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110220	Brugada syndrome 3	skos:exactMatch	MIM:611875	Brugada syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110221	Brugada syndrome 4	skos:exactMatch	MIM:611876	Brugada syndrome 4	semapv:ManualMappingCuration	2017-10-03
DOID:0110222	Brugada syndrome 5	skos:exactMatch	MIM:612838	Brugada syndrome 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110223	Brugada syndrome 6	skos:exactMatch	MIM:613119	?Brugada syndrome 6	semapv:ManualMappingCuration	2017-10-03
DOID:0110224	Brugada syndrome 7	skos:exactMatch	MIM:613120	Atrial fibrillation, familial, 16	semapv:ManualMappingCuration	2017-10-03
DOID:0110225	Brugada syndrome 8	skos:exactMatch	MIM:613123	Brugada syndrome 8	semapv:ManualMappingCuration	2017-10-03
DOID:0110226	Brugada syndrome 9	skos:exactMatch	MIM:616399	Brugada syndrome 9	semapv:ManualMappingCuration	2017-02-24
DOID:0110227	cataract 32 multiple types	skos:exactMatch	MIM:115650	Cataract 32, multiple types	semapv:ManualMappingCuration	2014-06-23
DOID:0110228	cataract 8 multiple types	skos:exactMatch	MIM:115665	Cataract 8, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110229	cataract 6 multiple types	skos:exactMatch	MIM:116600	Cataract 6, multiple types	semapv:ManualMappingCuration	2014-06-23
DOID:0110230	cataract 34 multiple types	skos:exactMatch	MIM:612968	Cataract 34, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110231	cataract 1 multiple types	skos:exactMatch	MIM:116200	Cataract 1, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110232	cataract 29	skos:exactMatch	MIM:115800	Cataract 29, coralliform	semapv:ManualMappingCuration	2017-09-20
DOID:0110233	cataract 27	skos:exactMatch	MIM:607304	Cataract 27, nuclear progressive	semapv:ManualMappingCuration	2017-10-03
DOID:0110234	cataract 4 multiple types	skos:exactMatch	MIM:115700	Cataract 4, multiple types	semapv:ManualMappingCuration	2014-06-23
DOID:0110235	cataract 2 multiple types	skos:exactMatch	MIM:604307	Cataract 2, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110236	cataract 39 multiple types	skos:exactMatch	MIM:615188	Cataract 39, multiple types, autosomal dominant	semapv:ManualMappingCuration	2014-09-09
DOID:0110237	cataract 42	skos:exactMatch	MIM:115900	?Cataract 42	semapv:ManualMappingCuration	2017-09-20
DOID:0110238	cataract 18	skos:exactMatch	MIM:610019	Cataract 18, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110239	cataract 12 multiple types	skos:exactMatch	MIM:611597	Cataract 12, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110240	cataract 20 multiple types	skos:exactMatch	MIM:116100	Cataract 20, multiple types	semapv:ManualMappingCuration	2017-09-20
DOID:0110241	cataract 41	skos:exactMatch	MIM:116400	?Cataract 41	semapv:ManualMappingCuration	2014-10-20
DOID:0110242	cataract 13 with adult i phenotype	skos:exactMatch	MIM:110800	[Blood group, Ii]	semapv:ManualMappingCuration	2014-10-20
DOID:0110242	cataract 13 with adult i phenotype	skos:exactMatch	MIM:116700	Cataract 13 with adult i phenotype	semapv:ManualMappingCuration	2017-01-11
DOID:0110243	cataract 46 juvenile-onset	skos:exactMatch	MIM:212500	Cataract 46, juvenile-onset	semapv:ManualMappingCuration	2014-06-23
DOID:0110244	cataract 28	skos:exactMatch	MIM:609026	{Cataract 28, age-related cortical, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0110245	cataract 38	skos:exactMatch	MIM:614691	Cataract 38, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110246	cataract 26 multiple types	skos:exactMatch	MIM:605749	Cataract 26, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110247	cataract 36	skos:exactMatch	MIM:613887	Cataract 36	semapv:ManualMappingCuration	2014-09-09
DOID:0110248	cataract 30	skos:exactMatch	MIM:116300	Cataract 30, pulverulent	semapv:ManualMappingCuration	2017-10-03
DOID:0110249	cataract 11 multiple types	skos:exactMatch	MIM:610623	Cataract 11, syndromic, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110250	cataract 16 multiple types	skos:exactMatch	MIM:613763	Cataract 16, multiple types	semapv:ManualMappingCuration	2014-10-20
DOID:0110251	cataract 15 multiple types	skos:exactMatch	MIM:615274	Cataract 15, multiple types	semapv:ManualMappingCuration	2015-07-01
DOID:0110252	cataract 37	skos:exactMatch	MIM:614422	Cataract 37, autosomal dominant	semapv:ManualMappingCuration	2017-09-20
DOID:0110253	cataract 14 multiple types	skos:exactMatch	MIM:601885	Cataract 14, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110254	cataract 25	skos:exactMatch	MIM:605728	Cataract 25	semapv:ManualMappingCuration	2017-10-03
DOID:0110255	cataract 5 multiple types	skos:exactMatch	MIM:116800	Cataract 5, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110256	cataract 21 multiple types	skos:exactMatch	MIM:610202	Cataract 21, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110257	cataract 24	skos:exactMatch	MIM:601202	Cataract 24, anterior polar	semapv:ManualMappingCuration	2017-10-03
DOID:0110258	cataract 10 multiple types	skos:exactMatch	MIM:600881	Cataract 10, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110259	cataract 43	skos:exactMatch	MIM:616279	?Cataract 43	semapv:ManualMappingCuration	2017-02-27
DOID:0110260	cataract 7	skos:exactMatch	MIM:115660	Cataract 7	semapv:ManualMappingCuration	2017-10-03
DOID:0110261	cataract 35	skos:exactMatch	MIM:609376	Cataract 35, congenital nuclear	semapv:ManualMappingCuration	2017-10-03
DOID:0110262	cataract 45	skos:exactMatch	MIM:616851	?Cataract 45	semapv:ManualMappingCuration	2016-04-12
DOID:0110263	cataract 19 multiple types	skos:exactMatch	MIM:615277	Cataract 19, multiple types	semapv:ManualMappingCuration	2015-07-01
DOID:0110264	cataract 33	skos:exactMatch	MIM:611391	Cataract 33, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110265	cataract 31 multiple types	skos:exactMatch	MIM:605387	Cataract 31, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110266	cataract 9 multiple types	skos:exactMatch	MIM:604219	Cataract 9, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110267	cataract 44	skos:exactMatch	MIM:616509	Cataract 44	semapv:ManualMappingCuration	2017-02-27
DOID:0110268	cataract 22 multiple types	skos:exactMatch	MIM:609741	Cataract 22	semapv:ManualMappingCuration	2017-10-03
DOID:0110269	cataract 3 multiple types	skos:exactMatch	MIM:601547	Cataract 3, multiple types	semapv:ManualMappingCuration	2014-06-23
DOID:0110270	cataract 17 multiple types	skos:exactMatch	MIM:611544	Cataract 17, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:0110271	cataract 23	skos:exactMatch	MIM:610425	Cataract 23	semapv:ManualMappingCuration	2014-06-23
DOID:0110272	cataract 40	skos:exactMatch	MIM:302200	Cataract 40, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0110273	autosomal dominant limb-girdle muscular dystrophy	skos:exactMatch	MIM:PS603511	Muscular dystrophy, limb-girdle, autosomal dominant 1	semapv:ManualMappingCuration	2019-02-25
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	skos:exactMatch	MIM:PS253600	Muscular dystrophy, limb-girdle, autosomal recessive 1	semapv:ManualMappingCuration	2018-06-29
DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A	skos:exactMatch	MIM:253600	Muscular dystrophy, limb-girdle, autosomal recessive 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B	skos:exactMatch	MIM:253601	Muscular dystrophy, limb-girdle, autosomal recessive 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C	skos:exactMatch	MIM:253700	Muscular dystrophy, limb-girdle, autosomal recessive 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D	skos:exactMatch	MIM:608099	Muscular dystrophy, limb-girdle, autosomal recessive 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110279	autosomal recessive limb-girdle muscular dystrophy type 2E	skos:exactMatch	MIM:604286	Muscular dystrophy, limb-girdle, autosomal recessive 4	semapv:ManualMappingCuration	2017-10-03
DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F	skos:exactMatch	MIM:601287	Muscular dystrophy, limb-girdle, autosomal recessive 6	semapv:ManualMappingCuration	2017-10-03
DOID:0110281	autosomal recessive limb-girdle muscular dystrophy type 2G	skos:exactMatch	MIM:601954	Muscular dystrophy, limb-girdle, autosomal recessive 7	semapv:ManualMappingCuration	2017-10-03
DOID:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H	skos:exactMatch	MIM:254110	Muscular dystrophy, limb-girdle, autosomal recessive 8	semapv:ManualMappingCuration	2017-10-03
DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J	skos:exactMatch	MIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10	semapv:ManualMappingCuration	2017-10-03
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L	skos:exactMatch	MIM:611307	Muscular dystrophy, limb-girdle, autosomal recessive 12	semapv:ManualMappingCuration	2017-10-03
DOID:0110285	autosomal recessive limb-girdle muscular dystrophy type 2Q	skos:exactMatch	MIM:613723	Muscular dystrophy, limb-girdle, autosomal recessive 17	semapv:ManualMappingCuration	2014-06-23
DOID:0110287	autosomal recessive limb-girdle muscular dystrophy type 2S	skos:exactMatch	MIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	semapv:ManualMappingCuration	2014-09-09
DOID:0110288	autosomal recessive limb-girdle muscular dystrophy type 2W	skos:exactMatch	MIM:616827	?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue	semapv:ManualMappingCuration	2016-03-15
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y	skos:exactMatch	MIM:617072	?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures	semapv:ManualMappingCuration	2016-09-09
DOID:0110290	autosomal recessive limb-girdle muscular dystrophy type 2X	skos:exactMatch	MIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25	semapv:ManualMappingCuration	2016-03-15
DOID:0110291	Leber congenital amaurosis 10	skos:exactMatch	MIM:611755	Leber congenital amaurosis 10	semapv:ManualMappingCuration	2017-10-03
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O	skos:exactMatch	MIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	semapv:ManualMappingCuration	2014-06-23
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P	skos:exactMatch	MIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	semapv:ManualMappingCuration	2014-09-09
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T	skos:exactMatch	MIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	semapv:ManualMappingCuration	2014-09-09
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U	skos:exactMatch	MIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	semapv:ManualMappingCuration	2018-08-06
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M	skos:exactMatch	MIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	semapv:ManualMappingCuration	2014-06-23
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K	skos:exactMatch	MIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	semapv:ManualMappingCuration	2014-06-23
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N	skos:exactMatch	MIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	semapv:ManualMappingCuration	2014-06-23
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I	skos:exactMatch	MIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	semapv:ManualMappingCuration	2014-06-23
DOID:0110303	autosomal dominant limb-girdle muscular dystrophy type 1H	skos:exactMatch	MIM:613530	Muscular dystrophy, limb-girdle, type 1H	semapv:ManualMappingCuration	2014-06-23
DOID:0110304	autosomal dominant limb-girdle muscular dystrophy type 2	skos:exactMatch	MIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110305	autosomal dominant limb-girdle muscular dystrophy type 1	skos:exactMatch	MIM:603511	Muscular dystrophy, limb-girdle, autosomal dominant 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3	skos:exactMatch	MIM:609115	Muscular dystrophy, limb-girdle, autosomal dominant 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110307	hypertrophic cardiomyopathy 1	skos:exactMatch	MIM:192600	Cardiomyopathy, familial hypertrophic	semapv:ManualMappingCuration	2017-10-03
DOID:0110308	hypertrophic cardiomyopathy 2	skos:exactMatch	MIM:115195	Cardiomyopathy, hypertrophic, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110309	hypertrophic cardiomyopathy 3	skos:exactMatch	MIM:115196	Cardiomyopathy, hypertrophic, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110310	hypertrophic cardiomyopathy 4	skos:exactMatch	MIM:115197	Cardiomyopathy, hypertrophic, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0110311	hypertrophic cardiomyopathy 21	skos:exactMatch	MIM:614676	Cardiomyopathy, hypertrophic, 21	semapv:ManualMappingCuration	2018-08-21
DOID:0110312	hypertrophic cardiomyopathy 6	skos:exactMatch	MIM:600858	Cardiomyopathy, hypertrophic 6	semapv:ManualMappingCuration	2017-10-03
DOID:0110313	hypertrophic cardiomyopathy 7	skos:exactMatch	MIM:613690	Cardiomyopathy, hypertrophic, 7	semapv:ManualMappingCuration	2014-06-23
DOID:0110314	hypertrophic cardiomyopathy 8	skos:exactMatch	MIM:608751	Cardiomyopathy, hypertrophic, 8	semapv:ManualMappingCuration	2017-10-03
DOID:0110315	hypertrophic cardiomyopathy 9	skos:exactMatch	MIM:613765	Cardiomyopathy, familial hypertrophic, 9	semapv:ManualMappingCuration	2017-10-03
DOID:0110316	hypertrophic cardiomyopathy 10	skos:exactMatch	MIM:608758	Cardiomyopathy, hypertrophic, 10	semapv:ManualMappingCuration	2017-10-03
DOID:0110317	hypertrophic cardiomyopathy 11	skos:exactMatch	MIM:612098	Cardiomyopathy, hypertrophic, 11	semapv:ManualMappingCuration	2017-10-03
DOID:0110318	hypertrophic cardiomyopathy 12	skos:exactMatch	MIM:612124	Cardiomyopathy, hypertrophic, 12	semapv:ManualMappingCuration	2014-06-23
DOID:0110319	hypertrophic cardiomyopathy 13	skos:exactMatch	MIM:613243	Cardiomyopathy, hypertrophic, 13	semapv:ManualMappingCuration	2017-10-03
DOID:0110320	hypertrophic cardiomyopathy 14	skos:exactMatch	MIM:613251	Cardiomyopathy, hypertrophic, 14	semapv:ManualMappingCuration	2017-10-03
DOID:0110321	hypertrophic cardiomyopathy 15	skos:exactMatch	MIM:613255	Cardiomyopathy, hypertrophic, 15	semapv:ManualMappingCuration	2017-10-03
DOID:0110322	hypertrophic cardiomyopathy 16	skos:exactMatch	MIM:613838	Cardiomyopathy, hypertrophic, 16	semapv:ManualMappingCuration	2014-09-09
DOID:0110323	hypertrophic cardiomyopathy 17	skos:exactMatch	MIM:613873	Cardiomyopathy, hypertrophic, 17	semapv:ManualMappingCuration	2014-09-09
DOID:0110324	hypertrophic cardiomyopathy 18	skos:exactMatch	MIM:613874	Cardiomyopathy, hypertrophic, 18	semapv:ManualMappingCuration	2014-09-09
DOID:0110326	hypertrophic cardiomyopathy 20	skos:exactMatch	MIM:613876	Cardiomyopathy, hypertrophic, 20	semapv:ManualMappingCuration	2014-09-09
DOID:0110327	hypertrophic cardiomyopathy 26	skos:exactMatch	MIM:617047	Arrhythmogenic right ventricular dysplasia, familial	semapv:ManualMappingCuration	2016-09-06
DOID:0110328	hypertrophic cardiomyopathy 25	skos:exactMatch	MIM:607487	Cardiomyopathy, hypertrophic, 25	semapv:ManualMappingCuration	2017-10-03
DOID:0110329	Leber congenital amaurosis 6	skos:exactMatch	MIM:613826	Leber congenital amaurosis 6	semapv:ManualMappingCuration	2014-10-20
DOID:0110330	Leber congenital amaurosis 13	skos:exactMatch	MIM:612712	Leber congenital amaurosis 13	semapv:ManualMappingCuration	2017-10-03
DOID:0110331	Leber congenital amaurosis 3	skos:exactMatch	MIM:604232	Leber congenital amaurosis 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110332	Leber congenital amaurosis 4	skos:exactMatch	MIM:604393	Cone-rod dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0110333	Leber congenital amaurosis 7	skos:exactMatch	MIM:613829	Leber congenital amaurosis 7	semapv:ManualMappingCuration	2014-09-09
DOID:0110334	osteogenesis imperfecta type 1	skos:exactMatch	MIM:166200	Osteogenesis imperfecta, type I	semapv:ManualMappingCuration	2018-10-16
DOID:0110335	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	skos:exactMatch	MIM:166230	OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN BONES, BUT WITHOUT FRACTURES	semapv:ManualMappingCuration	2018-08-21
DOID:0110336	osteogenesis imperfecta type 8	skos:exactMatch	MIM:610915	Osteogenesis imperfecta, type VIII	semapv:ManualMappingCuration	2017-10-03
DOID:0110337	osteogenesis imperfecta type 7	skos:exactMatch	MIM:610682	Osteogenesis imperfecta, type VII	semapv:ManualMappingCuration	2017-10-03
DOID:0110338	osteogenesis imperfecta type 17	skos:exactMatch	MIM:616507	Osteogenesis imperfecta, type XVII	semapv:ManualMappingCuration	2017-03-29
DOID:0110339	osteogenesis imperfecta type 3	skos:exactMatch	MIM:259420	Osteogenesis imperfecta, type III	semapv:ManualMappingCuration	2017-10-03
DOID:0110340	osteogenesis imperfecta type 4	skos:exactMatch	MIM:166220	Osteogenesis imperfecta, type IV	semapv:ManualMappingCuration	2017-10-03
DOID:0110341	osteogenesis imperfecta type 2	skos:exactMatch	MIM:166210	Osteogenesis imperfecta, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0110342	osteogenesis imperfecta type 13	skos:exactMatch	MIM:614856	Osteogenesis imperfecta, type XIII	semapv:ManualMappingCuration	2014-09-09
DOID:0110343	osteogenesis imperfecta type 14	skos:exactMatch	MIM:615066	Osteogenesis imperfecta, type XIV	semapv:ManualMappingCuration	2017-10-10
DOID:0110344	osteogenesis imperfecta type 5	skos:exactMatch	MIM:610967	Osteogenesis imperfecta, type V	semapv:ManualMappingCuration	2017-10-03
DOID:0110345	osteogenesis imperfecta type 16	skos:exactMatch	MIM:616229	Osteogenesis imperfecta, type XVI	semapv:ManualMappingCuration	2018-08-22
DOID:0110346	osteogenesis imperfecta type 10	skos:exactMatch	MIM:613848	Osteogenesis imperfecta, type X	semapv:ManualMappingCuration	2014-09-09
DOID:0110347	osteogenesis imperfecta type 15	skos:exactMatch	MIM:615220	Osteogenesis imperfecta, type XV	semapv:ManualMappingCuration	2014-09-09
DOID:0110348	osteogenesis imperfecta type 12	skos:exactMatch	MIM:613849	Osteogenesis imperfecta, type XII	semapv:ManualMappingCuration	2014-09-09
DOID:0110349	osteogenesis imperfecta type 9	skos:exactMatch	MIM:259440	Osteogenesis imperfecta, type IX	semapv:ManualMappingCuration	2017-10-03
DOID:0110350	osteogenesis imperfecta type 6	skos:exactMatch	MIM:613982	Osteogenesis imperfecta, type VI	semapv:ManualMappingCuration	2014-10-20
DOID:0110351	osteogenesis imperfecta type 11	skos:exactMatch	MIM:610968	Osteogenesis imperfecta, type XI	semapv:ManualMappingCuration	2014-09-09
DOID:0110352	retinitis pigmentosa 59	skos:exactMatch	MIM:613861	Retinitis pigmentosa 59	semapv:ManualMappingCuration	2014-09-09
DOID:0110353	retinitis pigmentosa 20	skos:exactMatch	MIM:613794	Retinitis pigmentosa 20	semapv:ManualMappingCuration	2014-10-20
DOID:0110354	retinitis pigmentosa 19	skos:exactMatch	MIM:601718	Retinitis pigmentosa 19	semapv:ManualMappingCuration	2017-10-03
DOID:0110355	retinitis pigmentosa 32	skos:exactMatch	MIM:609913	Retinitis pigmentosa 32	semapv:ManualMappingCuration	2017-10-03
DOID:0110356	retinitis pigmentosa 18	skos:exactMatch	MIM:601414	Retinitis pigmentosa 18	semapv:ManualMappingCuration	2017-10-03
DOID:0110357	retinitis pigmentosa 35	skos:exactMatch	MIM:610282	Retinitis pigmentosa 35	semapv:ManualMappingCuration	2017-10-03
DOID:0110358	retinitis pigmentosa 12	skos:exactMatch	MIM:600105	Retinitis pigmentosa-12	semapv:ManualMappingCuration	2017-10-03
DOID:0110359	retinitis pigmentosa 67	skos:exactMatch	MIM:615565	?Retinitis pigmentosa 67	semapv:ManualMappingCuration	2014-09-09
DOID:0110360	retinitis pigmentosa 39	skos:exactMatch	MIM:613809	Retinitis pigmentosa 39	semapv:ManualMappingCuration	2014-09-09
DOID:0110361	retinitis pigmentosa 75	skos:exactMatch	MIM:617023	Retinitis pigmentosa 75	semapv:ManualMappingCuration	2017-04-03
DOID:0110362	retinitis pigmentosa 58	skos:exactMatch	MIM:613617	?Retinitis pigmentosa 58	semapv:ManualMappingCuration	2014-06-23
DOID:0110363	retinitis pigmentosa 71	skos:exactMatch	MIM:616394	Retinitis pigmentosa 71	semapv:ManualMappingCuration	2015-06-18
DOID:0110364	retinitis pigmentosa 54	skos:exactMatch	MIM:613428	Retinitis pigmentosa 54	semapv:ManualMappingCuration	2014-06-23
DOID:0110365	retinitis pigmentosa 28	skos:exactMatch	MIM:606068	Retinitis pigmentosa 28	semapv:ManualMappingCuration	2017-07-21
DOID:0110366	retinitis pigmentosa 33	skos:exactMatch	MIM:610359	Retinitis pigmentosa 33	semapv:ManualMappingCuration	2017-10-03
DOID:0110367	retinitis pigmentosa 38	skos:exactMatch	MIM:613862	Retinitis pigmentosa 38	semapv:ManualMappingCuration	2014-09-09
DOID:0110368	retinitis pigmentosa 26	skos:exactMatch	MIM:608380	Retinitis pigmentosa 26	semapv:ManualMappingCuration	2017-10-03
DOID:0110369	retinitis pigmentosa 47	skos:exactMatch	MIM:613758	Retinitis pigmentosa 47, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110370	retinitis pigmentosa 55	skos:exactMatch	MIM:613575	Retinitis pigmentosa 55	semapv:ManualMappingCuration	2014-06-23
DOID:0110371	retinitis pigmentosa 56	skos:exactMatch	MIM:613581	Retinitis pigmentosa 56	semapv:ManualMappingCuration	2014-06-23
DOID:0110372	retinitis pigmentosa 4	skos:exactMatch	MIM:613731	Retinitis pigmentosa 4, autosomal dominant or recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110373	retinitis pigmentosa 61	skos:exactMatch	MIM:614180	Retinitis pigmentosa 61	semapv:ManualMappingCuration	2014-09-09
DOID:0110374	retinitis pigmentosa 68	skos:exactMatch	MIM:615725	Retinitis pigmentosa 68	semapv:ManualMappingCuration	2014-09-09
DOID:0110375	retinitis pigmentosa 40	skos:exactMatch	MIM:613801	Retinitis pigmentosa-40	semapv:ManualMappingCuration	2014-09-09
DOID:0110376	retinitis pigmentosa 41	skos:exactMatch	MIM:612095	Retinitis pigmentosa 41	semapv:ManualMappingCuration	2017-10-03
DOID:0110377	retinitis pigmentosa 49	skos:exactMatch	MIM:613756	Retinitis pigmentosa 49	semapv:ManualMappingCuration	2014-09-09
DOID:0110378	retinitis pigmentosa 29	skos:exactMatch	MIM:612165	Retinitis pigmentosa 29	semapv:ManualMappingCuration	2017-10-03
DOID:0110379	retinitis pigmentosa 43	skos:exactMatch	MIM:613810	Retinitis pigmentosa 43	semapv:ManualMappingCuration	2014-09-09
DOID:0110380	retinitis pigmentosa 62	skos:exactMatch	MIM:614181	Retinitis pigmentosa 62	semapv:ManualMappingCuration	2014-09-09
DOID:0110381	retinitis pigmentosa 14	skos:exactMatch	MIM:600132	Retinitis pigmentosa 14	semapv:ManualMappingCuration	2017-10-03
DOID:0110382	retinitis pigmentosa 48	skos:exactMatch	MIM:613827	Retinitis pigmentosa 48	semapv:ManualMappingCuration	2014-09-09
DOID:0110383	retinitis pigmentosa 7	skos:exactMatch	MIM:608133	Retinitis pigmentosa 7 and digenic form	semapv:ManualMappingCuration	2017-10-03
DOID:0110384	retinitis pigmentosa 25	skos:exactMatch	MIM:602772	Retinitis pigmentosa 25	semapv:ManualMappingCuration	2017-10-03
DOID:0110385	retinitis pigmentosa 63	skos:exactMatch	MIM:614494	Retinitis pigmentosa 63	semapv:ManualMappingCuration	2017-09-08
DOID:0110386	retinitis pigmentosa 42	skos:exactMatch	MIM:612943	Retinitis pigmentosa 42	semapv:ManualMappingCuration	2017-10-03
DOID:0110387	retinitis pigmentosa 9	skos:exactMatch	MIM:180104	?Retinitis pigmentosa 9	semapv:ManualMappingCuration	2017-10-03
DOID:0110388	retinitis pigmentosa 10	skos:exactMatch	MIM:180105	Retinitis pigmentosa 10	semapv:ManualMappingCuration	2017-10-03
DOID:0110389	retinitis pigmentosa 73	skos:exactMatch	MIM:616544	Retinitis pigmentosa 73	semapv:ManualMappingCuration	2016-05-20
DOID:0110390	retinitis pigmentosa 1	skos:exactMatch	MIM:180100	Retinitis pigmentosa 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110391	retinitis pigmentosa 31	skos:exactMatch	MIM:609923	Retinitis pigmentosa 31	semapv:ManualMappingCuration	2017-10-03
DOID:0110392	retinitis pigmentosa 70	skos:exactMatch	MIM:615922	Retinitis pigmentosa 70	semapv:ManualMappingCuration	2017-04-03
DOID:0110393	retinitis pigmentosa 66	skos:exactMatch	MIM:615233	?Retinitis pigmentosa 66	semapv:ManualMappingCuration	2014-09-09
DOID:0110394	retinitis pigmentosa 44	skos:exactMatch	MIM:613769	Retinitis pigmentosa 44	semapv:ManualMappingCuration	2014-09-09
DOID:0110395	retinitis pigmentosa 72	skos:exactMatch	MIM:616469	Retinitis pigmentosa 72	semapv:ManualMappingCuration	2017-04-03
DOID:0110396	retinitis pigmentosa 50	skos:exactMatch	MIM:613194	Retinitis pigmentosa, concentric	semapv:ManualMappingCuration	2014-06-23
DOID:0110397	retinitis pigmentosa 27	skos:exactMatch	MIM:613750	Retinitis pigmentosa 27	semapv:ManualMappingCuration	2014-10-20
DOID:0110398	retinitis pigmentosa 51	skos:exactMatch	MIM:613464	?Retinitis pigmentosa 51	semapv:ManualMappingCuration	2014-06-23
DOID:0110399	retinitis pigmentosa 37	skos:exactMatch	MIM:611131	Retinitis pigmentosa 37	semapv:ManualMappingCuration	2017-10-03
DOID:0110400	retinitis pigmentosa 22	skos:exactMatch	MIM:602594	Retinitis pigmentosa 22	semapv:ManualMappingCuration	2017-07-21
DOID:0110401	retinitis pigmentosa 74	skos:exactMatch	MIM:616562	Retinitis pigmentosa 74	semapv:ManualMappingCuration	2016-06-13
DOID:0110402	retinitis pigmentosa 45	skos:exactMatch	MIM:613767	Retinitis pigmentosa 45	semapv:ManualMappingCuration	2014-09-09
DOID:0110403	retinitis pigmentosa 13	skos:exactMatch	MIM:600059	Retinitis pigmentosa 13	semapv:ManualMappingCuration	2017-10-03
DOID:0110404	retinitis pigmentosa 17	skos:exactMatch	MIM:600852	Retinitis pigmentosa 17	semapv:ManualMappingCuration	2017-10-03
DOID:0110405	retinitis pigmentosa 36	skos:exactMatch	MIM:610599	Retinitis pigmentosa 36	semapv:ManualMappingCuration	2017-10-03
DOID:0110406	retinitis pigmentosa 30	skos:exactMatch	MIM:607921	Retinitis pigmentosa 30	semapv:ManualMappingCuration	2017-10-03
DOID:0110407	retinitis pigmentosa 57	skos:exactMatch	MIM:613582	Retinitis pigmentosa 57	semapv:ManualMappingCuration	2014-06-23
DOID:0110408	retinitis pigmentosa 11	skos:exactMatch	MIM:600138	Retinitis pigmentosa 11	semapv:ManualMappingCuration	2017-10-03
DOID:0110409	retinitis pigmentosa 46	skos:exactMatch	MIM:612572	Retinitis pigmentosa 46	semapv:ManualMappingCuration	2014-10-20
DOID:0110410	retinitis pigmentosa 69	skos:exactMatch	MIM:615780	Retinitis pigmentosa 69	semapv:ManualMappingCuration	2017-04-03
DOID:0110411	retinitis pigmentosa 60	skos:exactMatch	MIM:613983	Retinitis pigmentosa 60	semapv:ManualMappingCuration	2014-09-09
DOID:0110412	retinitis pigmentosa 23	skos:exactMatch	MIM:300424	?Retinitis pigmentosa 23	semapv:ManualMappingCuration	2017-07-21
DOID:0110413	retinitis pigmentosa 6	skos:exactMatch	MIM:312612	?Retinitis pigmentosa, X-linked recessive, 6	semapv:ManualMappingCuration	2017-10-03
DOID:0110414	retinitis pigmentosa 3	skos:exactMatch	MIM:300029	Retinitis pigmentosa 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110415	retinitis pigmentosa 2	skos:exactMatch	MIM:312600	Retinitis pigmentosa 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110416	retinitis pigmentosa 24	skos:exactMatch	MIM:300155	Retinitis pigmentosa 24	semapv:ManualMappingCuration	2017-07-21
DOID:0110417	retinitis pigmentosa 34	skos:exactMatch	MIM:300605	Retinitis pigmentosa 34	semapv:ManualMappingCuration	2017-10-03
DOID:0110418	retinitis pigmentosa Y-linked	skos:exactMatch	MIM:400004	Retinitis pigmentosa, Y-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0110419	retinitis pigmentosa with or without situs inversus	skos:exactMatch	MIM:615434	Retinitis pigmentosa 82 with or without situs inversus	semapv:ManualMappingCuration	2014-09-09
DOID:0110420	dominant pericentral pigmentary retinopathy	skos:exactMatch	MIM:180210	RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT	semapv:ManualMappingCuration	2018-08-21
DOID:0110421	late-adult onset retinitis pigmentosa	skos:exactMatch	MIM:268025	RETINITIS PIGMENTOSA, LATE-ADULT ONSET	semapv:ManualMappingCuration	2018-08-23
DOID:0110422	autosomal recessive pericentral pigmentary retinopathy	skos:exactMatch	MIM:268060	RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	2018-04-18
DOID:0110423	dilated cardiomyopathy 1C	skos:exactMatch	MIM:601493	Left ventricular noncompaction 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110424	dilated cardiomyopathy 1CC	skos:exactMatch	MIM:613122	Cardiomyopathy, dilated, 1CC	semapv:ManualMappingCuration	2017-10-03
DOID:0110425	dilated cardiomyopathy 1A	skos:exactMatch	MIM:115200	Cardiomyopathy, dilated, 1A	semapv:ManualMappingCuration	2018-09-18
DOID:0110426	dilated cardiomyopathy 1D	skos:exactMatch	MIM:601494	Cardiomyopathy, dilated, 1D	semapv:ManualMappingCuration	2017-10-03
DOID:0110427	dilated cardiomyopathy 1V	skos:exactMatch	MIM:613697	Cardiomyopathy, dilated, 1V	semapv:ManualMappingCuration	2017-10-03
DOID:0110428	dilated cardiomyopathy 1AA	skos:exactMatch	MIM:612158	Cardiomyopathy, hypertrophic, 23, with or without LVNC	semapv:ManualMappingCuration	2017-10-03
DOID:0110429	dilated cardiomyopathy 1H	skos:exactMatch	MIM:604288	Cardiomyopathy, dilated, 1H	semapv:ManualMappingCuration	2017-10-03
DOID:0110430	dilated cardiomyopathy 1G	skos:exactMatch	MIM:604145	Cardiomyopathy, dilated, 1G	semapv:ManualMappingCuration	2017-10-03
DOID:0110431	dilated cardiomyopathy 1I	skos:exactMatch	MIM:604765	Cardiomyopathy, dilated, 1I	semapv:ManualMappingCuration	2017-10-03
DOID:0110432	dilated cardiomyopathy 1NN	skos:exactMatch	MIM:615916	Cardiomyopathy, dilated, 1NN	semapv:ManualMappingCuration	2017-02-27
DOID:0110433	dilated cardiomyopathy 1E	skos:exactMatch	MIM:601154	Cardiomyopathy, dilated, 1E	semapv:ManualMappingCuration	2017-10-03
DOID:0110434	dilated cardiomyopathy 1Z	skos:exactMatch	MIM:611879	Cardiomyopathy, dilated, 1Z	semapv:ManualMappingCuration	2017-10-03
DOID:0110435	dilated cardiomyopathy 1GG	skos:exactMatch	MIM:613642	Cardiomyopathy, dilated, 1GG	semapv:ManualMappingCuration	2018-04-12
DOID:0110436	dilated cardiomyopathy 1L	skos:exactMatch	MIM:606685	Cardiomyopathy, dilated, 1L	semapv:ManualMappingCuration	2017-10-03
DOID:0110437	dilated cardiomyopathy 1K	skos:exactMatch	MIM:605582	Cardiomyopathy, dilated, 1K	semapv:ManualMappingCuration	2017-10-03
DOID:0110438	dilated cardiomyopathy 1JJ	skos:exactMatch	MIM:615235	Cardiomyopathy, dilated, 1JJ	semapv:ManualMappingCuration	2014-09-09
DOID:0110439	dilated cardiomyopathy 1P	skos:exactMatch	MIM:609909	Cardiomyopathy, dilated, 1P	semapv:ManualMappingCuration	2017-10-03
DOID:0110440	dilated cardiomyopathy 1J	skos:exactMatch	MIM:605362	?Cardiomyopathy, dilated, 1J	semapv:ManualMappingCuration	2017-10-03
DOID:0110441	dilated cardiomyopathy 2B	skos:exactMatch	MIM:614672	?Cardiomyopathy, dilated, 2B	semapv:ManualMappingCuration	2014-09-02
DOID:0110442	dilated cardiomyopathy 1Q	skos:exactMatch	MIM:609915	Cardiomyopathy, dilated, 1Q	semapv:ManualMappingCuration	2017-10-03
DOID:0110443	dilated cardiomyopathy 1B	skos:exactMatch	MIM:600884	Cardiomyopathy, dilated 1B	semapv:ManualMappingCuration	2017-10-03
DOID:0110444	dilated cardiomyopathy 1X	skos:exactMatch	MIM:611615	Cardiomyopathy, dilated, 1X	semapv:ManualMappingCuration	2017-10-03
DOID:0110445	dilated cardiomyopathy 1KK	skos:exactMatch	MIM:615248	Cardiomyopathy, dilated, 1KK	semapv:ManualMappingCuration	2014-10-16
DOID:0110446	dilated cardiomyopathy 1W	skos:exactMatch	MIM:611407	Cardiomyopathy, dilated, 1W	semapv:ManualMappingCuration	2017-10-03
DOID:0110447	dilated cardiomyopathy 1DD	skos:exactMatch	MIM:613172	Cardiomyopathy, dilated, 1DD	semapv:ManualMappingCuration	2017-10-03
DOID:0110448	dilated cardiomyopathy 1HH	skos:exactMatch	MIM:613881	Cardiomyopathy, dilated, 1HH	semapv:ManualMappingCuration	2014-09-02
DOID:0110449	dilated cardiomyopathy 1M	skos:exactMatch	MIM:607482	?Cardiomyopathy, dilated, 1M	semapv:ManualMappingCuration	2017-10-03
DOID:0110450	dilated cardiomyopathy 1II	skos:exactMatch	MIM:615184	Cardiomyopathy, dilated, 1II	semapv:ManualMappingCuration	2014-09-02
DOID:0110451	dilated cardiomyopathy 1O	skos:exactMatch	MIM:608569	Cardiomyopathy, dilated, 1O	semapv:ManualMappingCuration	2017-10-03
DOID:0110453	dilated cardiomyopathy 1EE	skos:exactMatch	MIM:613252	Cardiomyopathy, dilated, 1EE	semapv:ManualMappingCuration	2017-10-03
DOID:0110454	dilated cardiomyopathy 1S	skos:exactMatch	MIM:613426	Cardiomyopathy, dilated, 1S	semapv:ManualMappingCuration	2017-10-03
DOID:0110455	dilated cardiomyopathy 1U	skos:exactMatch	MIM:613694	?Cardiomyopathy, dilated, 1U	semapv:ManualMappingCuration	2017-10-03
DOID:0110456	dilated cardiomyopathy 1R	skos:exactMatch	MIM:613424	Left ventricular noncompaction 4	semapv:ManualMappingCuration	2018-02-26
DOID:0110457	dilated cardiomyopathy 1Y	skos:exactMatch	MIM:611878	Left ventricular noncompaction 9	semapv:ManualMappingCuration	2017-10-03
DOID:0110458	dilated cardiomyopathy 1BB	skos:exactMatch	MIM:612877	Cardiomyopathy, dilated, 1BB	semapv:ManualMappingCuration	2017-10-03
DOID:0110459	dilated cardiomyopathy 1FF	skos:exactMatch	MIM:613286	Cardiomyopathy, dilated, 1FF	semapv:ManualMappingCuration	2017-10-03
DOID:0110460	dilated cardiomyopathy 2A	skos:exactMatch	MIM:611880	?Cardiomyopathy, dilated, 2A	semapv:ManualMappingCuration	2017-10-03
DOID:0110461	X-linked dilated cardiomyopathy	skos:exactMatch	MIM:302045	Cardiomyopathy, dilated, 3B	semapv:ManualMappingCuration	2014-06-23
DOID:0110462	autosomal recessive nonsyndromic deafness 101	skos:exactMatch	MIM:615837	?Deafness, autosomal recessive 101	semapv:ManualMappingCuration	2017-03-03
DOID:0110463	autosomal recessive nonsyndromic deafness 102	skos:exactMatch	MIM:615974	?Deafness, autosomal recessive 102	semapv:ManualMappingCuration	2017-03-03
DOID:0110464	autosomal recessive nonsyndromic deafness 103	skos:exactMatch	MIM:616042	?Deafness, autosomal recessive 103	semapv:ManualMappingCuration	2017-03-03
DOID:0110465	autosomal recessive nonsyndromic deafness 104	skos:exactMatch	MIM:616515	?Deafness, autosomal recessive 104	semapv:ManualMappingCuration	2017-03-03
DOID:0110467	autosomal recessive nonsyndromic deafness 12	skos:exactMatch	MIM:601386	{Deafness, autosomal recessive 12, modifier of}	semapv:ManualMappingCuration	2017-10-03
DOID:0110468	autosomal recessive nonsyndromic deafness 13	skos:exactMatch	MIM:603098	Deafness, autosomal recessive 13	semapv:ManualMappingCuration	2017-10-03
DOID:0110469	autosomal recessive nonsyndromic deafness 14	skos:exactMatch	MIM:603678	Deafness, autosomal recessive 14	semapv:ManualMappingCuration	2017-10-03
DOID:0110470	autosomal recessive nonsyndromic deafness 15	skos:exactMatch	MIM:601869	Deafness, autosomal recessive 15	semapv:ManualMappingCuration	2017-10-03
DOID:0110471	autosomal recessive nonsyndromic deafness 16	skos:exactMatch	MIM:603720	Deafness, autosomal recessive 16	semapv:ManualMappingCuration	2017-10-03
DOID:0110472	autosomal recessive nonsyndromic deafness 17	skos:exactMatch	MIM:603010	Deafness, autosomal recessive 17	semapv:ManualMappingCuration	2017-10-03
DOID:0110473	autosomal recessive nonsyndromic deafness 18A	skos:exactMatch	MIM:602092	Deafness, autosomal recessive 18A	semapv:ManualMappingCuration	2014-06-23
DOID:0110474	autosomal recessive nonsyndromic deafness 18B	skos:exactMatch	MIM:614945	Deafness, autosomal recessive 18B	semapv:ManualMappingCuration	2014-09-09
DOID:0110475	autosomal recessive nonsyndromic deafness 1A	skos:exactMatch	MIM:220290	Deafness, digenic, GJB2/GJB3	semapv:ManualMappingCuration	2017-10-03
DOID:0110476	autosomal recessive nonsyndromic deafness 1B	skos:exactMatch	MIM:612645	Deafness, autosomal recessive 1B	semapv:ManualMappingCuration	2017-10-03
DOID:0110477	autosomal recessive nonsyndromic deafness 2	skos:exactMatch	MIM:600060	Deafness, autosomal recessive 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110478	autosomal recessive nonsyndromic deafness 20	skos:exactMatch	MIM:604060	Deafness, autosomal recessive 20	semapv:ManualMappingCuration	2017-10-03
DOID:0110479	autosomal recessive nonsyndromic deafness 21	skos:exactMatch	MIM:603629	Deafness, autosomal recessive 21	semapv:ManualMappingCuration	2017-10-03
DOID:0110480	autosomal recessive nonsyndromic deafness 22	skos:exactMatch	MIM:607039	Deafness, autosomal recessive 22	semapv:ManualMappingCuration	2017-10-03
DOID:0110481	autosomal recessive nonsyndromic deafness 23	skos:exactMatch	MIM:609533	Deafness, autosomal recessive 23	semapv:ManualMappingCuration	2017-10-03
DOID:0110482	autosomal recessive nonsyndromic deafness 24	skos:exactMatch	MIM:611022	Deafness, autosomal recessive 24	semapv:ManualMappingCuration	2017-10-03
DOID:0110483	autosomal recessive nonsyndromic deafness 25	skos:exactMatch	MIM:613285	Deafness, autosomal recessive 25	semapv:ManualMappingCuration	2014-06-23
DOID:0110484	autosomal recessive nonsyndromic deafness 26	skos:exactMatch	MIM:605428	?Deafness, autosomal recessive 26	semapv:ManualMappingCuration	2017-10-03
DOID:0110485	autosomal recessive nonsyndromic deafness 27	skos:exactMatch	MIM:605818	Deafness, autosomal recessive 27	semapv:ManualMappingCuration	2017-10-03
DOID:0110486	autosomal recessive nonsyndromic deafness 28	skos:exactMatch	MIM:609823	Deafness, autosomal recessive 28	semapv:ManualMappingCuration	2017-10-03
DOID:0110487	autosomal recessive nonsyndromic deafness 29	skos:exactMatch	MIM:614035	Deafness, autosomal recessive 29	semapv:ManualMappingCuration	2014-09-09
DOID:0110488	autosomal recessive nonsyndromic deafness 3	skos:exactMatch	MIM:600316	Deafness, autosomal recessive 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110489	autosomal recessive nonsyndromic deafness 30	skos:exactMatch	MIM:607101	Deafness, autosomal recessive 30	semapv:ManualMappingCuration	2017-10-03
DOID:0110490	autosomal recessive nonsyndromic deafness 31	skos:exactMatch	MIM:607084	Deafness, autosomal recessive 31	semapv:ManualMappingCuration	2017-10-03
DOID:0110491	autosomal recessive nonsyndromic deafness 32	skos:exactMatch	MIM:608653	Deafness, autosomal recessive 32, with or without immotile sperm	semapv:ManualMappingCuration	2017-10-03
DOID:0110492	autosomal recessive nonsyndromic deafness 33	skos:exactMatch	MIM:607239	Deafness, autosomal recessive 33	semapv:ManualMappingCuration	2017-10-03
DOID:0110493	autosomal recessive nonsyndromic deafness 35	skos:exactMatch	MIM:608565	Deafness, autosomal recessive 35	semapv:ManualMappingCuration	2017-10-03
DOID:0110494	autosomal recessive nonsyndromic deafness 36	skos:exactMatch	MIM:609006	Deafness, neurosensory, without vestibular involvement, autosomal dominant	semapv:ManualMappingCuration	2014-06-23
DOID:0110495	autosomal recessive nonsyndromic deafness 37	skos:exactMatch	MIM:607821	Deafness, autosomal recessive 37	semapv:ManualMappingCuration	2017-10-03
DOID:0110496	autosomal recessive nonsyndromic deafness 38	skos:exactMatch	MIM:608219	Deafness, autosomal recessive 38	semapv:ManualMappingCuration	2017-10-03
DOID:0110497	autosomal recessive nonsyndromic deafness 39	skos:exactMatch	MIM:608265	Deafness, autosomal recessive 39	semapv:ManualMappingCuration	2017-10-03
DOID:0110498	autosomal recessive nonsyndromic deafness 4	skos:exactMatch	MIM:600791	Enlarged vestibular aqueduct	semapv:ManualMappingCuration	2014-06-23
DOID:0110499	autosomal recessive nonsyndromic deafness 40	skos:exactMatch	MIM:608264	Deafness, autosomal recessive 40	semapv:ManualMappingCuration	2017-10-03
DOID:0110500	autosomal recessive nonsyndromic deafness 42	skos:exactMatch	MIM:609646	Deafness, autosomal recessive 42	semapv:ManualMappingCuration	2017-10-03
DOID:0110501	autosomal recessive nonsyndromic deafness 44	skos:exactMatch	MIM:610154	?Deafness, autosomal recessive 44	semapv:ManualMappingCuration	2017-10-03
DOID:0110502	autosomal recessive nonsyndromic deafness 45	skos:exactMatch	MIM:612433	Deafness, autosomal recessive 45	semapv:ManualMappingCuration	2014-06-23
DOID:0110503	autosomal recessive nonsyndromic deafness 46	skos:exactMatch	MIM:609647	Deafness, autosomal recessive 46	semapv:ManualMappingCuration	2017-10-03
DOID:0110504	autosomal recessive nonsyndromic deafness 47	skos:exactMatch	MIM:609946	Deafness, neurosensory, autosomal recessive 47	semapv:ManualMappingCuration	2017-10-03
DOID:0110505	autosomal recessive nonsyndromic deafness 48	skos:exactMatch	MIM:609439	Deafness, autosomal recessive 48	semapv:ManualMappingCuration	2017-10-03
DOID:0110506	autosomal recessive nonsyndromic deafness 49	skos:exactMatch	MIM:610153	Deafness, autosomal recessive 49	semapv:ManualMappingCuration	2017-10-03
DOID:0110507	autosomal recessive nonsyndromic deafness 5	skos:exactMatch	MIM:600792	Deafness, autosomal recessive 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110508	autosomal recessive nonsyndromic deafness 51	skos:exactMatch	MIM:609941	Deafness, autosomal recessive 51	semapv:ManualMappingCuration	2017-10-03
DOID:0110509	autosomal recessive nonsyndromic deafness 53	skos:exactMatch	MIM:609706	Deafness, autosomal recessive 53	semapv:ManualMappingCuration	2017-10-03
DOID:0110510	autosomal recessive nonsyndromic deafness 55	skos:exactMatch	MIM:609952	Deafness, autosomal recessive 55	semapv:ManualMappingCuration	2017-10-03
DOID:0110511	autosomal recessive nonsyndromic deafness 59	skos:exactMatch	MIM:610220	Deafness, autosomal recessive 59	semapv:ManualMappingCuration	2017-10-03
DOID:0110512	autosomal recessive nonsyndromic deafness 6	skos:exactMatch	MIM:600971	Deafness, autosomal recessive 6	semapv:ManualMappingCuration	2017-10-03
DOID:0110513	autosomal recessive nonsyndromic deafness 61	skos:exactMatch	MIM:613865	?Deafness, autosomal recessive 61	semapv:ManualMappingCuration	2014-09-09
DOID:0110514	autosomal recessive nonsyndromic deafness 62	skos:exactMatch	MIM:610143	Deafness, autosomal recessive 62	semapv:ManualMappingCuration	2017-10-03
DOID:0110515	autosomal recessive nonsyndromic deafness 63	skos:exactMatch	MIM:611451	Deafness, autosomal recessive 63	semapv:ManualMappingCuration	2017-10-03
DOID:0110516	autosomal recessive nonsyndromic deafness 65	skos:exactMatch	MIM:610248	Deafness, autosomal recessive 65	semapv:ManualMappingCuration	2017-10-03
DOID:0110517	autosomal recessive nonsyndromic deafness 66	skos:exactMatch	MIM:610212	?Deafness, autosomal recessive 66	semapv:ManualMappingCuration	2017-10-03
DOID:0110518	autosomal recessive nonsyndromic deafness 67	skos:exactMatch	MIM:610265	Deafness, autosomal recessive 67	semapv:ManualMappingCuration	2017-10-03
DOID:0110519	autosomal recessive nonsyndromic deafness 68	skos:exactMatch	MIM:610419	Deafness, autosomal recessive 68	semapv:ManualMappingCuration	2017-10-03
DOID:0110520	autosomal recessive nonsyndromic deafness 7	skos:exactMatch	MIM:600974	Deafness, autosomal recessive 7	semapv:ManualMappingCuration	2017-10-03
DOID:0110521	autosomal recessive nonsyndromic deafness 70	skos:exactMatch	MIM:614934	Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration	semapv:ManualMappingCuration	2014-09-09
DOID:0110522	autosomal recessive nonsyndromic deafness 71	skos:exactMatch	MIM:612789	Deafness, autosomal recessive 71	semapv:ManualMappingCuration	2017-10-03
DOID:0110523	autosomal recessive nonsyndromic deafness 74	skos:exactMatch	MIM:613718	Deafness, autosomal recessive 74	semapv:ManualMappingCuration	2014-06-23
DOID:0110524	autosomal recessive nonsyndromic deafness 76	skos:exactMatch	MIM:615540	Deafness, autosomal recessive 76	semapv:ManualMappingCuration	2014-09-09
DOID:0110525	autosomal recessive nonsyndromic deafness 77	skos:exactMatch	MIM:613079	Deafness, autosomal recessive 77	semapv:ManualMappingCuration	2017-10-03
DOID:0110526	autosomal recessive nonsyndromic deafness 79	skos:exactMatch	MIM:613307	Deafness, autosomal recessive 79	semapv:ManualMappingCuration	2017-10-03
DOID:0110527	autosomal recessive nonsyndromic deafness 8	skos:exactMatch	MIM:601072	Deafness, autosomal recessive 8/10	semapv:ManualMappingCuration	2014-06-23
DOID:0110528	autosomal recessive nonsyndromic deafness 83	skos:exactMatch	MIM:613685	Deafness, autosomal recessive 83	semapv:ManualMappingCuration	2014-06-23
DOID:0110529	autosomal recessive nonsyndromic deafness 84A	skos:exactMatch	MIM:613391	Deafness, autosomal recessive 84A	semapv:ManualMappingCuration	2014-06-23
DOID:0110530	autosomal recessive nonsyndromic deafness 84B	skos:exactMatch	MIM:614944	Deafness, autosomal recessive 84B	semapv:ManualMappingCuration	2014-09-09
DOID:0110531	autosomal recessive nonsyndromic deafness 85	skos:exactMatch	MIM:613392	Deafness, autosomal recessive 85	semapv:ManualMappingCuration	2014-06-23
DOID:0110532	autosomal recessive nonsyndromic deafness 86	skos:exactMatch	MIM:614617	Deafness, autosomal recessive 86	semapv:ManualMappingCuration	2014-09-09
DOID:0110533	autosomal recessive nonsyndromic deafness 88	skos:exactMatch	MIM:615429	?Deafness, autosomal recessive 88	semapv:ManualMappingCuration	2014-09-09
DOID:0110534	autosomal recessive nonsyndromic deafness 89	skos:exactMatch	MIM:613916	Deafness, autosomal recessive 89	semapv:ManualMappingCuration	2014-06-23
DOID:0110535	autosomal recessive nonsyndromic deafness 9	skos:exactMatch	MIM:601071	Deafness, autosomal recessive 9	semapv:ManualMappingCuration	2017-10-03
DOID:0110536	autosomal recessive nonsyndromic deafness 91	skos:exactMatch	MIM:613453	?Deafness, autosomal recessive 91	semapv:ManualMappingCuration	2014-06-23
DOID:0110537	autosomal recessive nonsyndromic deafness 93	skos:exactMatch	MIM:614899	Deafness, autosomal recessive 93	semapv:ManualMappingCuration	2014-09-09
DOID:0110538	autosomal recessive nonsyndromic deafness 96	skos:exactMatch	MIM:614414	Deafness, autosomal recessive 96	semapv:ManualMappingCuration	2017-10-03
DOID:0110539	autosomal recessive nonsyndromic deafness 97	skos:exactMatch	MIM:616705	?Deafness, autosomal recessive 97	semapv:ManualMappingCuration	2016-01-13
DOID:0110540	autosomal recessive nonsyndromic deafness 98	skos:exactMatch	MIM:614861	?Deafness, autosomal recessive 98	semapv:ManualMappingCuration	2014-09-09
DOID:0110541	autosomal dominant nonsyndromic deafness 1	skos:exactMatch	MIM:124900	Deafness, autosomal dominant 1, with or without thrombocytopenia	semapv:ManualMappingCuration	2017-10-03
DOID:0110542	autosomal dominant nonsyndromic deafness 10	skos:exactMatch	MIM:601316	Deafness, autosomal dominant 10	semapv:ManualMappingCuration	2017-10-03
DOID:0110543	autosomal dominant nonsyndromic deafness 11	skos:exactMatch	MIM:601317	Deafness, autosomal dominant 11	semapv:ManualMappingCuration	2017-10-03
DOID:0110544	autosomal dominant nonsyndromic deafness 12	skos:exactMatch	MIM:601543	Deafness, autosomal dominant 8/12	semapv:ManualMappingCuration	2017-10-03
DOID:0110545	autosomal dominant nonsyndromic deafness 13	skos:exactMatch	MIM:601868	Deafness, autosomal dominant 13	semapv:ManualMappingCuration	2017-10-03
DOID:0110546	autosomal dominant nonsyndromic deafness 15	skos:exactMatch	MIM:602459	Deafness, autosomal dominant 15/52	semapv:ManualMappingCuration	2017-10-03
DOID:0110547	autosomal dominant nonsyndromic deafness 16	skos:exactMatch	MIM:603964	Deafness, autosomal dominant 16	semapv:ManualMappingCuration	2017-10-03
DOID:0110548	autosomal dominant nonsyndromic deafness 17	skos:exactMatch	MIM:603622	Deafness, autosomal dominant 17	semapv:ManualMappingCuration	2017-10-03
DOID:0110549	autosomal dominant nonsyndromic deafness 18	skos:exactMatch	MIM:606012	Deafness, autosomal dominant 18	semapv:ManualMappingCuration	2017-10-03
DOID:0110550	autosomal dominant nonsyndromic deafness 20	skos:exactMatch	MIM:604717	Deafness, autosomal dominant 20/26	semapv:ManualMappingCuration	2017-10-03
DOID:0110551	autosomal dominant nonsyndromic deafness 21	skos:exactMatch	MIM:607017	Deafness, autosomal dominant 21	semapv:ManualMappingCuration	2017-10-03
DOID:0110552	autosomal dominant nonsyndromic deafness 22	skos:exactMatch	MIM:606346	Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy	semapv:ManualMappingCuration	2014-06-23
DOID:0110553	autosomal dominant nonsyndromic deafness 23	skos:exactMatch	MIM:605192	Deafness, autosomal dominant 23	semapv:ManualMappingCuration	2017-10-03
DOID:0110554	autosomal dominant nonsyndromic deafness 24	skos:exactMatch	MIM:606282	Deafness, autosomal dominant 24	semapv:ManualMappingCuration	2017-10-03
DOID:0110555	autosomal dominant nonsyndromic deafness 25	skos:exactMatch	MIM:605583	Deafness, autosomal dominant 25	semapv:ManualMappingCuration	2017-10-03
DOID:0110556	autosomal dominant nonsyndromic deafness 27	skos:exactMatch	MIM:612431	Deafness, autosomal dominant 27	semapv:ManualMappingCuration	2014-06-23
DOID:0110557	autosomal dominant nonsyndromic deafness 28	skos:exactMatch	MIM:608641	Deafness, autosomal dominant 28	semapv:ManualMappingCuration	2017-10-03
DOID:0110558	autosomal dominant nonsyndromic deafness 2A	skos:exactMatch	MIM:600101	Deafness, autosomal dominant 2A	semapv:ManualMappingCuration	2017-10-03
DOID:0110559	autosomal dominant nonsyndromic deafness 2B	skos:exactMatch	MIM:612644	Deafness, autosomal dominant 2B, with or without peripheral neuropathy	semapv:ManualMappingCuration	2017-10-03
DOID:0110560	autosomal dominant nonsyndromic deafness 30	skos:exactMatch	MIM:606451	Deafness, autosomal dominant 30	semapv:ManualMappingCuration	2017-10-03
DOID:0110561	autosomal dominant nonsyndromic deafness 31	skos:exactMatch	MIM:608645	Deafness, autosomal dominant 31	semapv:ManualMappingCuration	2017-10-03
DOID:0110562	autosomal dominant nonsyndromic deafness 33	skos:exactMatch	MIM:614211	DEAFNESS, AUTOSOMAL DOMINANT 33	semapv:ManualMappingCuration	2014-06-23
DOID:0110563	autosomal dominant nonsyndromic deafness 36	skos:exactMatch	MIM:606705	Deafness, autosomal dominant 36	semapv:ManualMappingCuration	2017-10-03
DOID:0110564	autosomal dominant nonsyndromic deafness 3A	skos:exactMatch	MIM:601544	Deafness, autosomal dominant 3A	semapv:ManualMappingCuration	2017-10-03
DOID:0110565	autosomal dominant nonsyndromic deafness 3B	skos:exactMatch	MIM:612643	Deafness, autosomal dominant 3B	semapv:ManualMappingCuration	2017-10-03
DOID:0110566	autosomal dominant nonsyndromic deafness 40	skos:exactMatch	MIM:616357	Deafness, autosomal dominant 40	semapv:ManualMappingCuration	2017-03-02
DOID:0110567	autosomal dominant nonsyndromic deafness 41	skos:exactMatch	MIM:608224	Deafness, autosomal dominant 41	semapv:ManualMappingCuration	2017-10-03
DOID:0110568	autosomal dominant nonsyndromic deafness 43	skos:exactMatch	MIM:608394	Deafness, autosomal dominant 43	semapv:ManualMappingCuration	2017-10-03
DOID:0110569	autosomal dominant nonsyndromic deafness 44	skos:exactMatch	MIM:607453	?Deafness, autosomal dominant 44	semapv:ManualMappingCuration	2017-10-03
DOID:0110570	autosomal dominant nonsyndromic deafness 47	skos:exactMatch	MIM:608652	Deafness, autosomal dominant 47	semapv:ManualMappingCuration	2017-10-03
DOID:0110571	autosomal dominant nonsyndromic deafness 48	skos:exactMatch	MIM:607841	Deafness, autosomal dominant 48	semapv:ManualMappingCuration	2017-10-03
DOID:0110572	autosomal dominant nonsyndromic deafness 49	skos:exactMatch	MIM:608372	Deafness, autosomal dominant 49	semapv:ManualMappingCuration	2017-10-03
DOID:0110573	autosomal dominant nonsyndromic deafness 4A	skos:exactMatch	MIM:600652	Deafness, autosomal dominant 4A	semapv:ManualMappingCuration	2014-06-23
DOID:0110574	autosomal dominant nonsyndromic deafness 4B	skos:exactMatch	MIM:614614	Deafness, autosomal dominant 4B	semapv:ManualMappingCuration	2014-09-09
DOID:0110575	autosomal dominant nonsyndromic deafness 5	skos:exactMatch	MIM:600994	Deafness, autosomal dominant 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110576	autosomal dominant nonsyndromic deafness 50	skos:exactMatch	MIM:613074	Deafness, autosomal dominant 50	semapv:ManualMappingCuration	2014-06-23
DOID:0110577	autosomal dominant nonsyndromic deafness 51	skos:exactMatch	MIM:613558	Deafness, autosomal dominant 51	semapv:ManualMappingCuration	2014-06-23
DOID:0110579	autosomal dominant nonsyndromic deafness 53	skos:exactMatch	MIM:609965	Deafness, autosomal dominant 53	semapv:ManualMappingCuration	2017-10-03
DOID:0110580	autosomal dominant nonsyndromic deafness 54	skos:exactMatch	MIM:615649	Deafness, autosomal dominant 54	semapv:ManualMappingCuration	2017-10-03
DOID:0110581	autosomal dominant nonsyndromic deafness 56	skos:exactMatch	MIM:615629	Deafness, autosomal dominant 56	semapv:ManualMappingCuration	2014-09-09
DOID:0110582	autosomal dominant nonsyndromic deafness 58	skos:exactMatch	MIM:615654	Deafness, autosomal dominant 58	semapv:ManualMappingCuration	2017-10-03
DOID:0110583	autosomal dominant nonsyndromic deafness 59	skos:exactMatch	MIM:612642	Deafness, autosomal dominant 59	semapv:ManualMappingCuration	2017-10-03
DOID:0110584	autosomal dominant nonsyndromic deafness 6	skos:exactMatch	MIM:600965	Deafness, autosomal dominant 6/14/38	semapv:ManualMappingCuration	2017-10-03
DOID:0110585	autosomal dominant nonsyndromic deafness 64	skos:exactMatch	MIM:614152	Deafness, autosomal dominant 64	semapv:ManualMappingCuration	2014-09-09
DOID:0110586	autosomal dominant nonsyndromic deafness 65	skos:exactMatch	MIM:616044	Deafness, autosomal dominant 65	semapv:ManualMappingCuration	2017-10-03
DOID:0110587	autosomal dominant nonsyndromic deafness 66	skos:exactMatch	MIM:616969	?Deafness, autosomal dominant 66	semapv:ManualMappingCuration	2017-03-02
DOID:0110588	autosomal dominant nonsyndromic deafness 67	skos:exactMatch	MIM:616340	Deafness, autosomal dominant 67	semapv:ManualMappingCuration	2017-03-02
DOID:0110589	autosomal dominant nonsyndromic deafness 68	skos:exactMatch	MIM:616707	?Deafness, autosomal dominant 68	semapv:ManualMappingCuration	2016-01-13
DOID:0110590	autosomal dominant nonsyndromic deafness 69	skos:exactMatch	MIM:616697	Deafness, autosomal dominant 69, unilateral or asymmetric	semapv:ManualMappingCuration	2016-01-13
DOID:0110591	autosomal dominant nonsyndromic deafness 7	skos:exactMatch	MIM:601412	Deafness, autosomal dominant 7	semapv:ManualMappingCuration	2017-10-03
DOID:0110592	autosomal dominant nonsyndromic deafness 70	skos:exactMatch	MIM:616968	?Deafness, autosomal dominant 70	semapv:ManualMappingCuration	2017-03-02
DOID:0110593	autosomal dominant nonsyndromic deafness 9	skos:exactMatch	MIM:601369	Deafness, autosomal dominant 9	semapv:ManualMappingCuration	2017-10-03
DOID:0110594	primary ciliary dyskinesia 1	skos:exactMatch	MIM:244400	Ciliary dyskinesia, primary, 1, with or without situs inversus	semapv:ManualMappingCuration	2017-10-03
DOID:0110595	Stromme syndrome	skos:exactMatch	MIM:243605	Stromme syndrome	semapv:ManualMappingCuration	2016-03-23
DOID:0110596	primary ciliary dyskinesia 21	skos:exactMatch	MIM:615294	Ciliary dyskinesia, primary, 21	semapv:ManualMappingCuration	2014-09-09
DOID:0110597	primary ciliary dyskinesia 22	skos:exactMatch	MIM:615444	Ciliary dyskinesia, primary, 22	semapv:ManualMappingCuration	2014-09-09
DOID:0110598	primary ciliary dyskinesia 14	skos:exactMatch	MIM:613807	Ciliary dyskinesia, primary, 14	semapv:ManualMappingCuration	2014-09-09
DOID:0110599	primary ciliary dyskinesia 3	skos:exactMatch	MIM:608644	Ciliary dyskinesia, primary, 3, with or without situs inversus	semapv:ManualMappingCuration	2017-10-03
DOID:0110600	primary ciliary dyskinesia 29	skos:exactMatch	MIM:615872	Ciliary dyskinesia, primary, 29	semapv:ManualMappingCuration	2017-10-10
DOID:0110601	primary ciliary dyskinesia 12	skos:exactMatch	MIM:612650	Ciliary dyskinesia, primary, 12	semapv:ManualMappingCuration	2017-10-03
DOID:0110602	primary ciliary dyskinesia 11	skos:exactMatch	MIM:612649	Ciliary dyskinesia, primary, 11	semapv:ManualMappingCuration	2017-10-03
DOID:0110603	primary ciliary dyskinesia 32	skos:exactMatch	MIM:616481	Ciliary dyskinesia, primary, 32	semapv:ManualMappingCuration	2017-02-27
DOID:0110604	primary ciliary dyskinesia 18	skos:exactMatch	MIM:614874	Ciliary dyskinesia, primary, 18	semapv:ManualMappingCuration	2014-09-09
DOID:0110605	primary ciliary dyskinesia 7	skos:exactMatch	MIM:611884	Ciliary dyskinesia, primary, 7, with or without situs inversus	semapv:ManualMappingCuration	2017-10-03
DOID:0110606	primary ciliary dyskinesia 6	skos:exactMatch	MIM:610852	?Ciliary dyskinesia, primary, 6	semapv:ManualMappingCuration	2017-10-03
DOID:0110607	primary ciliary dyskinesia 28	skos:exactMatch	MIM:615505	Ciliary dyskinesia, primary, 28	semapv:ManualMappingCuration	2014-09-09
DOID:0110608	primary ciliary dyskinesia 19	skos:exactMatch	MIM:614935	Ciliary dyskinesia, primary, 19	semapv:ManualMappingCuration	2017-10-10
DOID:0110609	primary ciliary dyskinesia 23	skos:exactMatch	MIM:615451	Ciliary dyskinesia, primary, 23	semapv:ManualMappingCuration	2014-09-09
DOID:0110610	primary ciliary dyskinesia 34	skos:exactMatch	MIM:617091	Ciliary dyskinesia, primary, 34	semapv:ManualMappingCuration	2017-02-27
DOID:0110611	primary ciliary dyskinesia 27	skos:exactMatch	MIM:615504	Ciliary dyskinesia, primary, 27	semapv:ManualMappingCuration	2014-09-09
DOID:0110612	primary ciliary dyskinesia 10	skos:exactMatch	MIM:612518	Ciliary dyskinesia, primary, 10	semapv:ManualMappingCuration	2017-10-03
DOID:0110613	primary ciliary dyskinesia 16	skos:exactMatch	MIM:614017	Ciliary dyskinesia, primary, 16	semapv:ManualMappingCuration	2014-09-09
DOID:0110614	primary ciliary dyskinesia 4	skos:exactMatch	MIM:608646	Ciliary dyskinesia, primary, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0110615	primary ciliary dyskinesia 25	skos:exactMatch	MIM:615482	Ciliary dyskinesia, primary, 25	semapv:ManualMappingCuration	2014-09-09
DOID:0110616	primary ciliary dyskinesia 8	skos:exactMatch	MIM:612274	Ciliary dyskinesia, primary, 8	semapv:ManualMappingCuration	2017-10-03
DOID:0110617	primary ciliary dyskinesia 5	skos:exactMatch	MIM:608647	Ciliary dyskinesia, primary, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110618	primary ciliary dyskinesia 13	skos:exactMatch	MIM:613193	Ciliary dyskinesia, primary, 13	semapv:ManualMappingCuration	2017-10-03
DOID:0110619	primary ciliary dyskinesia 33	skos:exactMatch	MIM:616726	Ciliary dyskinesia, primary, 33	semapv:ManualMappingCuration	2016-02-09
DOID:0110620	primary ciliary dyskinesia 35	skos:exactMatch	MIM:617092	Ciliary dyskinesia, primary, 35	semapv:ManualMappingCuration	2017-02-28
DOID:0110621	primary ciliary dyskinesia 17	skos:exactMatch	MIM:614679	Ciliary dyskinesia, primary, 17	semapv:ManualMappingCuration	2014-09-09
DOID:0110622	primary ciliary dyskinesia 9	skos:exactMatch	MIM:612444	Ciliary dyskinesia, primary, 9, with or without situs inversus	semapv:ManualMappingCuration	2017-10-03
DOID:0110623	primary ciliary dyskinesia 15	skos:exactMatch	MIM:613808	Ciliary dyskinesia, primary, 15	semapv:ManualMappingCuration	2014-09-09
DOID:0110624	primary ciliary dyskinesia 30	skos:exactMatch	MIM:616037	Ciliary dyskinesia, primary, 30	semapv:ManualMappingCuration	2016-07-14
DOID:0110625	primary ciliary dyskinesia 20	skos:exactMatch	MIM:615067	Ciliary dyskinesia, primary, 20	semapv:ManualMappingCuration	2014-09-09
DOID:0110626	primary ciliary dyskinesia 2	skos:exactMatch	MIM:606763	Ciliary dyskinesia, primary, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110627	primary ciliary dyskinesia 26	skos:exactMatch	MIM:615500	Ciliary dyskinesia, primary, 26	semapv:ManualMappingCuration	2014-09-09
DOID:0110628	primary ciliary dyskinesia 24	skos:exactMatch	MIM:615481	Ciliary dyskinesia, primary, 24	semapv:ManualMappingCuration	2014-09-09
DOID:0110629	Wolfram syndrome 1	skos:exactMatch	MIM:222300	Wolfram syndrome 1	semapv:ManualMappingCuration	2018-09-19
DOID:0110630	Wolfram syndrome 2	skos:exactMatch	MIM:604928	Wolfram syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110632	megaconial type congenital muscular dystrophy	skos:exactMatch	MIM:602541	Muscular dystrophy, congenital, megaconial type	semapv:ManualMappingCuration	2014-10-20
DOID:0110633	rigid spine muscular dystrophy 1	skos:exactMatch	MIM:602771	Congenital myopathy 3 with rigid spine	semapv:ManualMappingCuration	2017-10-03
DOID:0110634	congenital muscular dystrophy 1B	skos:exactMatch	MIM:604801	Muscular dystrophy, congenital, 1B	semapv:ManualMappingCuration	2017-10-03
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5	skos:exactMatch	MIM:606612	Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5	semapv:ManualMappingCuration	2014-06-23
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A	skos:exactMatch	MIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient	semapv:ManualMappingCuration	2017-10-03
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6	skos:exactMatch	MIM:608840	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6	semapv:ManualMappingCuration	2014-06-23
DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency	skos:exactMatch	MIM:613204	Muscular dystrophy, congenital, due to ITGA7 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0110640	congenital muscular dystrophy due to LMNA mutation	skos:exactMatch	MIM:613205	Muscular dystrophy, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:0110644	long QT syndrome 1	skos:exactMatch	MIM:192500	Long QT syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110645	long QT syndrome 2	skos:exactMatch	MIM:613688	Long QT syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110646	long QT syndrome 3	skos:exactMatch	MIM:603830	Long QT syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110647	long QT syndrome 5	skos:exactMatch	MIM:613695	Long QT syndrome 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110648	long QT syndrome 6	skos:exactMatch	MIM:613693	Long QT syndrome 6	semapv:ManualMappingCuration	2017-10-03
DOID:0110649	long QT syndrome 8	skos:exactMatch	MIM:618447	Long QT syndrome 8	semapv:ManualMappingCuration	2019-06-25
DOID:0110650	long QT syndrome 9	skos:exactMatch	MIM:611818	Long QT syndrome 9	semapv:ManualMappingCuration	2017-10-03
DOID:0110651	long QT syndrome 10	skos:exactMatch	MIM:611819	Long QT syndrome 10	semapv:ManualMappingCuration	2017-10-03
DOID:0110652	long QT syndrome 11	skos:exactMatch	MIM:611820	?Long QT syndrome 11	semapv:ManualMappingCuration	2017-10-03
DOID:0110653	long QT syndrome 12	skos:exactMatch	MIM:612955	Long QT syndrome 12	semapv:ManualMappingCuration	2017-10-03
DOID:0110654	long QT syndrome 13	skos:exactMatch	MIM:613485	Long QT syndrome 13	semapv:ManualMappingCuration	2014-06-23
DOID:0110655	long QT syndrome 14	skos:exactMatch	MIM:616247	Long QT syndrome 14	semapv:ManualMappingCuration	2017-05-03
DOID:0110656	long QT syndrome 15	skos:exactMatch	MIM:616249	Long QT syndrome 15	semapv:ManualMappingCuration	2017-05-03
DOID:0110657	congenital myasthenic syndrome 8	skos:exactMatch	MIM:615120	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects	semapv:ManualMappingCuration	2018-08-06
DOID:0110658	congenital myasthenic syndrome 15	skos:exactMatch	MIM:616227	?Myasthenic syndrome, congenital, 15, without tubular aggregates	semapv:ManualMappingCuration	2017-03-13
DOID:0110659	congenital myasthenic syndrome 7	skos:exactMatch	MIM:616040	Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant	semapv:ManualMappingCuration	2017-03-27
DOID:0110660	congenital myasthenic syndrome 12	skos:exactMatch	MIM:610542	Myasthenia, congenital, 12, with tubular aggregates	semapv:ManualMappingCuration	2014-09-09
DOID:0110661	congenital myasthenic syndrome 20	skos:exactMatch	MIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	semapv:ManualMappingCuration	2017-03-27
DOID:0110662	congenital myasthenic syndrome 1B	skos:exactMatch	MIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	semapv:ManualMappingCuration	2018-02-13
DOID:0110663	congenital myasthenic syndrome 1A	skos:exactMatch	MIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	semapv:ManualMappingCuration	2017-10-03
DOID:0110664	congenital myasthenic syndrome 3C	skos:exactMatch	MIM:616323	?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	semapv:ManualMappingCuration	2017-03-27
DOID:0110665	congenital myasthenic syndrome 3B	skos:exactMatch	MIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	semapv:ManualMappingCuration	2018-02-13
DOID:0110666	congenital myasthenic syndrome 3A	skos:exactMatch	MIM:616321	?Myasthenic syndrome, congenital, 3A, slow-channel	semapv:ManualMappingCuration	2018-10-22
DOID:0110667	congenital myasthenic syndrome 5	skos:exactMatch	MIM:603034	Myasthenic syndrome, congenital, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110668	congenital myasthenic syndrome 10	skos:exactMatch	MIM:254300	Myasthenic syndrome, congenital, 10	semapv:ManualMappingCuration	2017-10-03
DOID:0110669	congenital myasthenic syndrome 14	skos:exactMatch	MIM:616228	Myasthenic syndrome, congenital, 14, with tubular aggregates	semapv:ManualMappingCuration	2017-03-13
DOID:0110670	congenital myasthenic syndrome 9	skos:exactMatch	MIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	semapv:ManualMappingCuration	2017-03-27
DOID:0110671	congenital myasthenic syndrome 6	skos:exactMatch	MIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	semapv:ManualMappingCuration	2017-10-03
DOID:0110672	congenital myasthenic syndrome 21	skos:exactMatch	MIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	semapv:ManualMappingCuration	2017-03-27
DOID:0110673	congenital myasthenic syndrome 19	skos:exactMatch	MIM:616720	Myasthenic syndrome, congenital, 19	semapv:ManualMappingCuration	2016-01-14
DOID:0110674	congenital myasthenic syndrome 17	skos:exactMatch	MIM:616304	?Myasthenic syndrome, congenital, 17	semapv:ManualMappingCuration	2017-03-27
DOID:0110675	congenital myasthenic syndrome 11	skos:exactMatch	MIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	semapv:ManualMappingCuration	2018-08-23
DOID:0110676	congenital myasthenic syndrome 13	skos:exactMatch	MIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates	semapv:ManualMappingCuration	2014-09-09
DOID:0110677	congenital myasthenic syndrome 4B	skos:exactMatch	MIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	semapv:ManualMappingCuration	2018-02-13
DOID:0110678	congenital myasthenic syndrome 4A	skos:exactMatch	MIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	semapv:ManualMappingCuration	2017-10-03
DOID:0110679	congenital myasthenic syndrome 4C	skos:exactMatch	MIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0110680	congenital myasthenic syndrome 2C	skos:exactMatch	MIM:616314	?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	semapv:ManualMappingCuration	2018-08-21
DOID:0110681	congenital myasthenic syndrome 2A	skos:exactMatch	MIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel	semapv:ManualMappingCuration	2018-03-13
DOID:0110682	congenital myasthenic syndrome 16	skos:exactMatch	MIM:614198	Myasthenic syndrome, congenital, 16	semapv:ManualMappingCuration	2014-09-09
DOID:0110683	congenital myasthenic syndrome 18	skos:exactMatch	MIM:616330	?Myasthenic syndrome, congenital, 18	semapv:ManualMappingCuration	2017-03-10
DOID:0110698	hypotrichosis 1	skos:exactMatch	MIM:605389	Hypotrichosis 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110699	hypotrichosis 2	skos:exactMatch	MIM:146520	Hypotrichosis 2	semapv:ManualMappingCuration	2014-06-23
DOID:0110700	hypotrichosis 3	skos:exactMatch	MIM:613981	?Hypotrichosis 3	semapv:ManualMappingCuration	2014-09-09
DOID:0110701	hypotrichosis 4	skos:exactMatch	MIM:146550	Hypotrichosis 4	semapv:ManualMappingCuration	2017-10-03
DOID:0110702	hypotrichosis 5	skos:exactMatch	MIM:612841	?Hypotrichosis 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110703	hypotrichosis 6	skos:exactMatch	MIM:607903	Hypotrichosis 6	semapv:ManualMappingCuration	2017-10-10
DOID:0110704	hypotrichosis 7	skos:exactMatch	MIM:604379	Hypotrichosis 7	semapv:ManualMappingCuration	2017-12-20
DOID:0110705	hypotrichosis 8	skos:exactMatch	MIM:278150	Hypotrichosis 8	semapv:ManualMappingCuration	2017-10-03
DOID:0110706	hypotrichosis 9	skos:exactMatch	MIM:614237	Hypotrichosis 9	semapv:ManualMappingCuration	2018-04-21
DOID:0110707	hypotrichosis 10	skos:exactMatch	MIM:614238	Hypotrichosis 10	semapv:ManualMappingCuration	2018-06-01
DOID:0110708	hypotrichosis 11	skos:exactMatch	MIM:615059	Hypotrichosis 11	semapv:ManualMappingCuration	2014-09-09
DOID:0110709	hypotrichosis 12	skos:exactMatch	MIM:615885	Hypotrichosis 12	semapv:ManualMappingCuration	2017-04-27
DOID:0110710	hypotrichosis 13	skos:exactMatch	MIM:615896	?Hypotrichosis 13	semapv:ManualMappingCuration	2017-04-27
DOID:0110711	congenital hypotrichosis with juvenile macular dystrophy	skos:exactMatch	MIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0110712	Oguchi disease-1	skos:exactMatch	MIM:258100	Oguchi disease-1	semapv:ManualMappingCuration	2019-02-28
DOID:0110713	Oguchi disease-2	skos:exactMatch	MIM:613411	Oguchi disease-2	semapv:ManualMappingCuration	2018-08-07
DOID:0110714	congenital stationary night blindness 1G	skos:exactMatch	MIM:616389	Night blindness, congenital stationary, type 1G	semapv:ManualMappingCuration	2017-03-30
DOID:0110715	congenital stationary night blindness autosomal dominant 3	skos:exactMatch	MIM:610444	Night blindness, congenital stationary, autosomal dominant 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110716	Warburg micro syndrome 1	skos:exactMatch	MIM:600118	Warburg micro syndrome 1	semapv:ManualMappingCuration	2018-02-23
DOID:0110717	Warburg micro syndrome 2	skos:exactMatch	MIM:614225	Warburg micro syndrome 2	semapv:ManualMappingCuration	2014-09-02
DOID:0110718	Warburg micro syndrome 3	skos:exactMatch	MIM:614222	Warburg micro syndrome 3	semapv:ManualMappingCuration	2014-09-02
DOID:0110719	Warburg micro syndrome 4	skos:exactMatch	MIM:615663	Warburg micro syndrome 4	semapv:ManualMappingCuration	2014-09-09
DOID:0110720	neuronal ceroid lipofuscinosis 4	skos:exactMatch	MIM:162350	Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant	semapv:ManualMappingCuration	2018-07-24
DOID:0110721	neuronal ceroid lipofuscinosis 1	skos:exactMatch	MIM:256730	Ceroid lipofuscinosis, neuronal, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110722	neuronal ceroid lipofuscinosis 7	skos:exactMatch	MIM:610951	Ceroid lipofuscinosis, neuronal, 7	semapv:ManualMappingCuration	2017-10-03
DOID:0110723	neuronal ceroid lipofuscinosis 8	skos:exactMatch	MIM:600143	Ceroid lipofuscinosis, neuronal, 8	semapv:ManualMappingCuration	2017-10-03
DOID:0110724	neuronal ceroid lipofuscinosis 8 northern epilepsy variant	skos:exactMatch	MIM:610003	Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	semapv:ManualMappingCuration	2018-10-16
DOID:0110725	neuronal ceroid lipofuscinosis 10	skos:exactMatch	MIM:610127	Ceroid lipofuscinosis, neuronal, 10	semapv:ManualMappingCuration	2017-10-03
DOID:0110726	neuronal ceroid lipofuscinosis 2	skos:exactMatch	MIM:204500	Ceroid lipofuscinosis, neuronal, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110727	neuronal ceroid lipofuscinosis 13	skos:exactMatch	MIM:615362	Ceroid lipofuscinosis, neuronal, 13 (Kufs type)	semapv:ManualMappingCuration	2014-09-09
DOID:0110728	neuronal ceroid lipofuscinosis 5	skos:exactMatch	MIM:256731	Ceroid lipofuscinosis, neuronal, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110729	neuronal ceroid lipofuscinosis 6A	skos:exactMatch	MIM:601780	Ceroid lipofuscinosis, neuronal, 6A	semapv:ManualMappingCuration	2017-10-03
DOID:0110730	neuronal ceroid lipofuscinosis 6B	skos:exactMatch	MIM:204300	Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	semapv:ManualMappingCuration	2018-03-12
DOID:0110731	neuronal ceroid lipofuscinosis 3	skos:exactMatch	MIM:204200	Ceroid lipofuscinosis, neuronal, 3	semapv:ManualMappingCuration	2016-09-06
DOID:0110732	neuronal ceroid lipofuscinosis 11	skos:exactMatch	MIM:614706	Ceroid lipofuscinosis, neuronal, 11	semapv:ManualMappingCuration	2014-09-09
DOID:0110733	neuronal ceroid lipofuscinosis 9	skos:exactMatch	MIM:609055	CEROID LIPOFUSCINOSIS, NEURONAL, 9	semapv:ManualMappingCuration	2017-10-03
DOID:0110734	neurodegeneration with brain iron accumulation	skos:exactMatch	MIM:PS234200	Neurodegeneration with brain iron accumulation 1	semapv:ManualMappingCuration	2018-06-29
DOID:0110735	neurodegeneration with brain iron accumulation 2A	skos:exactMatch	MIM:256600	Infantile neuroaxonal dystrophy 1	semapv:ManualMappingCuration	2014-06-23
DOID:0110736	neurodegeneration with brain iron accumulation 2B	skos:exactMatch	MIM:610217	Neurodegeneration with brain iron accumulation 2B	semapv:ManualMappingCuration	2017-10-03
DOID:0110737	neurodegeneration with brain iron accumulation 3	skos:exactMatch	MIM:606159	Neurodegeneration with brain iron accumulation 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110738	neurodegeneration with brain iron accumulation 4	skos:exactMatch	MIM:614298	Neurodegeneration with brain iron accumulation 4	semapv:ManualMappingCuration	2014-09-02
DOID:0110739	neurodegeneration with brain iron accumulation 5	skos:exactMatch	MIM:300894	Neurodegeneration with brain iron accumulation 5	semapv:ManualMappingCuration	2014-09-09
DOID:0110740	neurodegeneration with brain iron accumulation 6	skos:exactMatch	MIM:615643	Neurodegeneration with brain iron accumulation 6	semapv:ManualMappingCuration	2014-09-09
DOID:0110741	type 1 diabetes mellitus 2	skos:exactMatch	MIM:125852	Diabetes mellitus, insulin-dependent, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110742	type 1 diabetes mellitus 3	skos:exactMatch	MIM:600318	{Diabetes mellitus, insulin-dependent, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:0110743	type 1 diabetes mellitus 4	skos:exactMatch	MIM:600319	{Diabetes mellitus, insulin-dependent, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:0110744	type 1 diabetes mellitus 5	skos:exactMatch	MIM:600320	{Diabetes mellitus, insulin-dependent, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:0110745	type 1 diabetes mellitus 6	skos:exactMatch	MIM:601941	{Diabetes mellitus, insulin-dependent, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:0110746	type 1 diabetes mellitus 7	skos:exactMatch	MIM:600321	{Diabetes mellitus, insulin-dependent, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:0110747	type 1 diabetes mellitus 8	skos:exactMatch	MIM:600883	{Diabetes mellitus, insulin-dependent, 8}	semapv:ManualMappingCuration	2017-10-03
DOID:0110749	type 1 diabetes mellitus 10	skos:exactMatch	MIM:601942	{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}	semapv:ManualMappingCuration	2017-10-03
DOID:0110750	type 1 diabetes mellitus 11	skos:exactMatch	MIM:601208	{Diabetes mellitus, insulin-dependent, 11}	semapv:ManualMappingCuration	2017-10-03
DOID:0110751	type 1 diabetes mellitus 12	skos:exactMatch	MIM:601388	{Diabetes mellitus, insulin-dependent, 12}	semapv:ManualMappingCuration	2017-10-03
DOID:0110752	type 1 diabetes mellitus 13	skos:exactMatch	MIM:601318	{Diabetes mellitus, insulin-dependent, 13}	semapv:ManualMappingCuration	2017-10-03
DOID:0110753	type 1 diabetes mellitus 15	skos:exactMatch	MIM:601666	{Diabetes mellitus, insulin-dependent, 15}	semapv:ManualMappingCuration	2017-10-03
DOID:0110754	type 1 diabetes mellitus 17	skos:exactMatch	MIM:603266	{Diabetes mellitus, insulin-dependent, 17}	semapv:ManualMappingCuration	2017-10-03
DOID:0110755	type 1 diabetes mellitus 18	skos:exactMatch	MIM:605598	{Diabetes mellitus, insulin-dependent, 18}	semapv:ManualMappingCuration	2017-10-03
DOID:0110756	type 1 diabetes mellitus 19	skos:exactMatch	MIM:610155	{Diabetes mellitus, insulin-dependent, 19}	semapv:ManualMappingCuration	2017-10-03
DOID:0110757	type 1 diabetes mellitus 20	skos:exactMatch	MIM:612520	Diabetes mellitus, insulin-dependent, 20	semapv:ManualMappingCuration	2017-10-03
DOID:0110758	type 1 diabetes mellitus 21	skos:exactMatch	MIM:612521	{Diabetes mellitus, insulin-dependent, 21}	semapv:ManualMappingCuration	2017-10-03
DOID:0110759	type 1 diabetes mellitus 22	skos:exactMatch	MIM:612522	{Diabetes mellitus, insulin-dependent, 22}	semapv:ManualMappingCuration	2017-10-03
DOID:0110760	type 1 diabetes mellitus 23	skos:exactMatch	MIM:612622	{Diabetes mellitus, insulin-dependent, 23}	semapv:ManualMappingCuration	2017-10-03
DOID:0110761	type 1 diabetes mellitus 24	skos:exactMatch	MIM:613006	{Diabetes mellitus, insulin-dependent, 24}	semapv:ManualMappingCuration	2017-10-03
DOID:0110763	hereditary spastic paraplegia 10	skos:exactMatch	MIM:604187	Spastic paraplegia 10, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110764	hereditary spastic paraplegia 11	skos:exactMatch	MIM:604360	Spastic paraplegia 11, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110765	hereditary spastic paraplegia 12	skos:exactMatch	MIM:604805	Spastic paraplegia 12, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110766	hereditary spastic paraplegia 13	skos:exactMatch	MIM:605280	Spastic paraplegia 13, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110767	hereditary spastic paraplegia 14	skos:exactMatch	MIM:605229	Spastic paraplegia 14, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110768	hereditary spastic paraplegia 15	skos:exactMatch	MIM:270700	Spastic paraplegia 15, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110769	hereditary spastic paraplegia 16	skos:exactMatch	MIM:300266	Spastic paraplegia 16, X-linked, complicated	semapv:ManualMappingCuration	2017-10-03
DOID:0110770	hereditary spastic paraplegia 17	skos:exactMatch	MIM:270685	Silver spastic paraplegia syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0110771	hereditary spastic paraplegia 18	skos:exactMatch	MIM:611225	Spastic paraplegia 18B, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110771	hereditary spastic paraplegia 18	skos:exactMatch	MIM:620512	Spastic paraplegia 18A, autosomal dominant	semapv:ManualMappingCuration	2023-10-17
DOID:0110772	hereditary spastic paraplegia 19	skos:exactMatch	MIM:607152	Spastic paraplegia 19, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110773	hereditary spastic paraplegia 2	skos:exactMatch	MIM:312920	Spastic paraplegia 2, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0110774	hereditary spastic paraplegia 23	skos:exactMatch	MIM:270750	Spastic paraplegia 23, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110775	hereditary spastic paraplegia 24	skos:exactMatch	MIM:607584	Spastic paraplegia 24, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110776	hereditary spastic paraplegia 25	skos:exactMatch	MIM:608220	Spastic paraplegia 25, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110777	hereditary spastic paraplegia 26	skos:exactMatch	MIM:609195	Spastic paraplegia 26, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110778	hereditary spastic paraplegia 27	skos:exactMatch	MIM:609041	Spastic paraplegia 27, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110779	hereditary spastic paraplegia 28	skos:exactMatch	MIM:609340	Spastic paraplegia 28, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110780	hereditary spastic paraplegia 29	skos:exactMatch	MIM:609727	Spastic paraplegia 29, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110782	hereditary spastic paraplegia 31	skos:exactMatch	MIM:610250	Spastic paraplegia 31, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110783	hereditary spastic paraplegia 32	skos:exactMatch	MIM:611252	Spastic paraplegia 32, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110784	hereditary spastic paraplegia 33	skos:exactMatch	MIM:610244	SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2017-10-03
DOID:0110785	hereditary spastic paraplegia 34	skos:exactMatch	MIM:300750	Spastic paraplegia 34, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0110786	hereditary spastic paraplegia 35	skos:exactMatch	MIM:612319	Spastic paraplegia 35, autosomal recessive	semapv:ManualMappingCuration	2014-06-23
DOID:0110787	hereditary spastic paraplegia 36	skos:exactMatch	MIM:613096	Spastic paraplegia 36, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110788	hereditary spastic paraplegia 37	skos:exactMatch	MIM:611945	Spastic paraplegia 37, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110789	hereditary spastic paraplegia 38	skos:exactMatch	MIM:612335	Spastic paraplegia 38, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110790	hereditary spastic paraplegia 39	skos:exactMatch	MIM:612020	Spastic paraplegia 39, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110791	hereditary spastic paraplegia 3A	skos:exactMatch	MIM:182600	Spastic paraplegia 3A, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110792	hereditary spastic paraplegia 4	skos:exactMatch	MIM:182601	Spastic paraplegia 4, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110793	hereditary spastic paraplegia 41	skos:exactMatch	MIM:613364	?Spastic paraplegia 41, autosomal dominant	semapv:ManualMappingCuration	2014-06-23
DOID:0110794	hereditary spastic paraplegia 42	skos:exactMatch	MIM:612539	Spastic paraplegia 42, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110795	hereditary spastic paraplegia 43	skos:exactMatch	MIM:615043	?Spastic paraplegia 43, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110796	hereditary spastic paraplegia 44	skos:exactMatch	MIM:613206	?Spastic paraplegia 44, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110797	hereditary spastic paraplegia 45	skos:exactMatch	MIM:613162	Spastic paraplegia 45, autosomal recessive	semapv:ManualMappingCuration	2014-06-23
DOID:0110798	hereditary spastic paraplegia 46	skos:exactMatch	MIM:614409	Spastic paraplegia 46, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110799	hereditary spastic paraplegia 47	skos:exactMatch	MIM:614066	Spastic paraplegia 47, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110800	hereditary spastic paraplegia 48	skos:exactMatch	MIM:613647	Spastic paraplegia 48, autosomal recessive	semapv:ManualMappingCuration	2014-06-23
DOID:0110801	hereditary spastic paraplegia 49	skos:exactMatch	MIM:615031	Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay	semapv:ManualMappingCuration	2014-06-23
DOID:0110802	hereditary spastic paraplegia 50	skos:exactMatch	MIM:612936	Spastic paraplegia 50, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110803	hereditary spastic paraplegia 51	skos:exactMatch	MIM:613744	Spastic paraplegia 51, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110804	hereditary spastic paraplegia 52	skos:exactMatch	MIM:614067	Spastic paraplegia 52, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110805	hereditary spastic paraplegia 53	skos:exactMatch	MIM:614898	Spastic paraplegia 53, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110806	hereditary spastic paraplegia 54	skos:exactMatch	MIM:615033	Spastic paraplegia 54, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110807	hereditary spastic paraplegia 55	skos:exactMatch	MIM:615035	Spastic paraplegia 55, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110808	hereditary spastic paraplegia 56	skos:exactMatch	MIM:615030	Spastic paraplegia 56, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110809	hereditary spastic paraplegia 57	skos:exactMatch	MIM:615658	?Spastic paraplegia 57, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110810	hereditary spastic paraplegia 5A	skos:exactMatch	MIM:270800	Spastic paraplegia 5A, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110811	hereditary spastic paraplegia 6	skos:exactMatch	MIM:600363	Spastic paraplegia 6, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110812	hereditary spastic paraplegia 61	skos:exactMatch	MIM:615685	Spastic paraplegia 61, autosomal recessive	semapv:ManualMappingCuration	2015-07-07
DOID:0110813	hereditary spastic paraplegia 62	skos:exactMatch	MIM:615681	Spastic paraplegia 62, autosomal recessive	semapv:ManualMappingCuration	2016-06-14
DOID:0110814	hereditary spastic paraplegia 63	skos:exactMatch	MIM:615686	?Spastic paraplegia 63, autosomal recessive	semapv:ManualMappingCuration	2015-07-07
DOID:0110815	hereditary spastic paraplegia 64	skos:exactMatch	MIM:615683	Spastic paraplegia 64, autosomal recessive	semapv:ManualMappingCuration	2014-10-16
DOID:0110816	hereditary spastic paraplegia 7	skos:exactMatch	MIM:607259	Spastic paraplegia 7, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110817	hereditary spastic paraplegia 72A	skos:exactMatch	MIM:615625	Spastic paraplegia 72A, autosomal dominant	semapv:ManualMappingCuration	2014-09-09
DOID:0110817	hereditary spastic paraplegia 72A	skos:exactMatch	MIM:620606	?Spastic paraplegia 72B, autosomal recessive	semapv:ManualMappingCuration	2023-12-04
DOID:0110818	hereditary spastic paraplegia 73	skos:exactMatch	MIM:616282	?Spastic paraplegia 73, autosomal dominant	semapv:ManualMappingCuration	2017-04-06
DOID:0110819	hereditary spastic paraplegia 74	skos:exactMatch	MIM:616451	?Spastic paraplegia 74, autosomal recessive	semapv:ManualMappingCuration	2017-04-06
DOID:0110820	hereditary spastic paraplegia 75	skos:exactMatch	MIM:616680	Spastic paraplegia 75, autosomal recessive	semapv:ManualMappingCuration	2016-01-14
DOID:0110821	hereditary spastic paraplegia 76	skos:exactMatch	MIM:616907	Spastic paraplegia 76, autosomal recessive	semapv:ManualMappingCuration	2016-06-14
DOID:0110822	hereditary spastic paraplegia 77	skos:exactMatch	MIM:617046	Spastic paraplegia 77, autosomal recessive	semapv:ManualMappingCuration	2017-04-06
DOID:0110823	hereditary spastic paraplegia 8	skos:exactMatch	MIM:603563	Spastic paraplegia 8, autosomal dominant	semapv:ManualMappingCuration	2015-12-10
DOID:0110824	hereditary spastic paraplegia 9A	skos:exactMatch	MIM:601162	Spastic paraplegia 9A, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110825	hereditary spastic paraplegia 9B	skos:exactMatch	MIM:616586	Spastic paraplegia 9B, autosomal recessive	semapv:ManualMappingCuration	2017-04-06
DOID:0110829	retinitis pigmentosa-deafness syndrome	skos:exactMatch	MIM:500004	RETINITIS PIGMENTOSA-DEAFNESS SYNDROME	semapv:ManualMappingCuration	2018-01-12
DOID:0110830	Usher syndrome type 1C	skos:exactMatch	MIM:276904	Usher syndrome, type 1C	semapv:ManualMappingCuration	2017-10-03
DOID:0110831	Usher syndrome type 1D	skos:exactMatch	MIM:601067	Usher syndrome, type 1D/F digenic	semapv:ManualMappingCuration	2017-10-03
DOID:0110832	Usher syndrome type 1F	skos:exactMatch	MIM:602083	Usher syndrome, type 1F	semapv:ManualMappingCuration	2017-10-03
DOID:0110833	Usher syndrome type 1E	skos:exactMatch	MIM:602097	Usher syndrome, type 1E	semapv:ManualMappingCuration	2017-10-03
DOID:0110834	Usher syndrome type 1G	skos:exactMatch	MIM:606943	Usher syndrome, type 1G	semapv:ManualMappingCuration	2017-10-03
DOID:0110835	Usher syndrome type 1H	skos:exactMatch	MIM:612632	Usher syndrome, type 1H	semapv:ManualMappingCuration	2017-10-03
DOID:0110836	Usher syndrome type 1J	skos:exactMatch	MIM:614869	Usher syndrome, type IJ	semapv:ManualMappingCuration	2014-06-23
DOID:0110837	Usher syndrome type 1K	skos:exactMatch	MIM:614990	Usher syndrome, type IK	semapv:ManualMappingCuration	2018-08-21
DOID:0110838	Usher syndrome type 2A	skos:exactMatch	MIM:276901	{Retinal disease in Usher syndrome type IIA, modifier of}	semapv:ManualMappingCuration	2017-10-03
DOID:0110839	Usher syndrome type 2C	skos:exactMatch	MIM:605472	Usher syndrome, type 2C	semapv:ManualMappingCuration	2017-10-03
DOID:0110840	Usher syndrome type 2D	skos:exactMatch	MIM:611383	Usher syndrome, type 2D	semapv:ManualMappingCuration	2014-06-23
DOID:0110841	Usher syndrome type 3A	skos:exactMatch	MIM:276902	Usher syndrome, type 3A	semapv:ManualMappingCuration	2014-06-23
DOID:0110842	Usher syndrome type 3B	skos:exactMatch	MIM:614504	Usher syndrome type 3B	semapv:ManualMappingCuration	2014-09-02
DOID:0110843	xeroderma pigmentosum group A	skos:exactMatch	MIM:278700	Xeroderma pigmentosum, group A	semapv:ManualMappingCuration	2018-04-12
DOID:0110844	xeroderma pigmentosum group C	skos:exactMatch	MIM:278720	Xeroderma pigmentosum, group C	semapv:ManualMappingCuration	2017-10-03
DOID:0110845	xeroderma pigmentosum group D	skos:exactMatch	MIM:278730	Xeroderma pigmentosum, group D	semapv:ManualMappingCuration	2017-10-03
DOID:0110846	xeroderma pigmentosum group E	skos:exactMatch	MIM:278740	Xeroderma pigmentosum, group E, DDB-negative subtype	semapv:ManualMappingCuration	2017-10-03
DOID:0110847	xeroderma pigmentosum variant type	skos:exactMatch	MIM:278750	Xeroderma pigmentosum, variant type	semapv:ManualMappingCuration	2017-10-03
DOID:0110848	xeroderma pigmentosum group F	skos:exactMatch	MIM:278760	Xeroderma pigmentosum, type F/Cockayne syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0110849	xeroderma pigmentosum group G	skos:exactMatch	MIM:278780	Xeroderma pigmentosum, group G	semapv:ManualMappingCuration	2017-10-03
DOID:0110850	xeroderma pigmentosum group B	skos:exactMatch	MIM:610651	Xeroderma pigmentosum, group B	semapv:ManualMappingCuration	2017-10-03
DOID:0110851	rhizomelic chondrodysplasia punctata type 1	skos:exactMatch	MIM:215100	Rhizomelic chondrodysplasia punctata, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110852	rhizomelic chondrodysplasia punctata type 2	skos:exactMatch	MIM:222765	Rhizomelic chondrodysplasia punctata, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110853	rhizomelic chondrodysplasia punctata type 3	skos:exactMatch	MIM:600121	Rhizomelic chondrodysplasia punctata, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110854	rhizomelic chondrodysplasia punctata type 5	skos:exactMatch	MIM:616716	Rhizomelic chondrodysplasia punctata, type 5	semapv:ManualMappingCuration	2016-01-14
DOID:0110855	posterior polymorphous corneal dystrophy 1	skos:exactMatch	MIM:122000	Corneal dystrophy, posterior polymorphous, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110856	posterior polymorphous corneal dystrophy 2	skos:exactMatch	MIM:609140	Corneal dystrophy, posterior polymorphous 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110857	posterior polymorphous corneal dystrophy 3	skos:exactMatch	MIM:609141	Corneal dystrophy, posterior polymorphous, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110858	polycystic kidney disease 1	skos:exactMatch	MIM:173900	Polycystic kidney disease 1	semapv:ManualMappingCuration	2018-07-25
DOID:0110859	polycystic kidney disease 2	skos:exactMatch	MIM:613095	Polycystic kidney disease 2	semapv:ManualMappingCuration	2018-04-12
DOID:0110860	polycystic kidney disease 3	skos:exactMatch	MIM:600666	Polycystic kidney disease 3	semapv:ManualMappingCuration	2018-02-02
DOID:0110862	congenital stationary night blindness autosomal dominant 1	skos:exactMatch	MIM:610445	Night blindness, congenital stationary, autosomal dominant 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110863	congenital stationary night blindness autosomal dominant 2	skos:exactMatch	MIM:163500	Night blindness, congenital stationary, autosomal dominant 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110864	congenital stationary night blindness 1F	skos:exactMatch	MIM:615058	Night blindness, congenital stationary (complete), 1F, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110865	congenital stationary night blindness 1B	skos:exactMatch	MIM:257270	Night blindness, congenital stationary (complete), 1B, autosomal recessive	semapv:ManualMappingCuration	2014-06-23
DOID:0110866	congenital stationary night blindness 1H	skos:exactMatch	MIM:617024	Night blindness, congenital stationary, type 1H	semapv:ManualMappingCuration	2016-08-10
DOID:0110867	congenital stationary night blindness 1C	skos:exactMatch	MIM:613216	Night blindness, congenital stationary (complete), 1C, autosomal recessive	semapv:ManualMappingCuration	2014-06-23
DOID:0110868	congenital stationary night blindness 1D	skos:exactMatch	MIM:613830	Night blindness, congenital stationary (complete), 1D, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110869	congenital stationary night blindness 1E	skos:exactMatch	MIM:614565	Night blindness, congenital stationary (complete), 1E, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0110870	congenital stationary night blindness 1A	skos:exactMatch	MIM:310500	Night blindness, congenital stationary (complete), 1A, X-linked	semapv:ManualMappingCuration	2014-06-23
DOID:0110871	congenital stationary night blindness 2A	skos:exactMatch	MIM:300071	Night blindness, congenital stationary (incomplete), 2A, X-linked	semapv:ManualMappingCuration	2014-06-23
DOID:0110872	holoprosencephaly 2	skos:exactMatch	MIM:157170	Holoprosencephaly 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110873	holoprosencephaly 9	skos:exactMatch	MIM:610829	Holoprosencephaly 9	semapv:ManualMappingCuration	2017-10-03
DOID:0110874	holoprosencephaly 6	skos:exactMatch	MIM:605934	Holoprosencephaly 6	semapv:ManualMappingCuration	2017-10-03
DOID:0110875	holoprosencephaly 3	skos:exactMatch	MIM:142945	Holoprosencephaly 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110876	holoprosencephaly 7	skos:exactMatch	MIM:610828	Holoprosencephaly 7	semapv:ManualMappingCuration	2017-10-03
DOID:0110877	holoprosencephaly 11	skos:exactMatch	MIM:614226	Holoprosencephaly 11	semapv:ManualMappingCuration	2014-09-09
DOID:0110878	holoprosencephaly 5	skos:exactMatch	MIM:609637	Holoprosencephaly 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110879	holoprosencephaly 8	skos:exactMatch	MIM:609408	Holoprosencephaly 8	semapv:ManualMappingCuration	2017-10-03
DOID:0110880	holoprosencephaly 4	skos:exactMatch	MIM:142946	Holoprosencephaly 4	semapv:ManualMappingCuration	2017-10-03
DOID:0110881	holoprosencephaly 1	skos:exactMatch	MIM:236100	Holoprosencephaly 1	semapv:ManualMappingCuration	2017-10-26
DOID:0110882	inflammatory bowel disease 7	skos:exactMatch	MIM:605225	{Inflammatory bowel disease 7}	semapv:ManualMappingCuration	2017-10-03
DOID:0110883	inflammatory bowel disease 17	skos:exactMatch	MIM:612261	{Inflammatory bowel disease 17, protection against}	semapv:ManualMappingCuration	2017-10-03
DOID:0110884	inflammatory bowel disease 23	skos:exactMatch	MIM:612381	{Inflammatory bowel disease 23}	semapv:ManualMappingCuration	2017-10-03
DOID:0110885	inflammatory bowel disease 10	skos:exactMatch	MIM:611081	{Inflammatory bowel disease (Crohn disease) 10}	semapv:ManualMappingCuration	2017-10-03
DOID:0110886	inflammatory bowel disease 9	skos:exactMatch	MIM:608448	{Inflammatory bowel disease 9}	semapv:ManualMappingCuration	2017-10-03
DOID:0110887	inflammatory bowel disease 12	skos:exactMatch	MIM:612241	{Inflammatory bowel disease 12}	semapv:ManualMappingCuration	2017-10-03
DOID:0110888	inflammatory bowel disease 18	skos:exactMatch	MIM:612262	{Inflammatory bowel disease 18}	semapv:ManualMappingCuration	2017-10-03
DOID:0110889	inflammatory bowel disease 5	skos:exactMatch	MIM:606348	{Inflammatory bowel disease 5}	semapv:ManualMappingCuration	2017-10-03
DOID:0110890	inflammatory bowel disease 19	skos:exactMatch	MIM:612278	{Inflammatory bowel disease (Crohn disease) 19}	semapv:ManualMappingCuration	2017-10-03
DOID:0110891	inflammatory bowel disease 3	skos:exactMatch	MIM:604519	{Inflammatory bowel disease 3}	semapv:ManualMappingCuration	2017-10-03
DOID:0110893	inflammatory bowel disease 13	skos:exactMatch	MIM:612244	{Inflammatory bowel disease 13}	semapv:ManualMappingCuration	2017-10-03
DOID:0110894	inflammatory bowel disease 11	skos:exactMatch	MIM:191390	{Inflammatory bowel disease 11}	semapv:ManualMappingCuration	2017-10-19
DOID:0110895	inflammatory bowel disease 14	skos:exactMatch	MIM:612245	{Inflammatory bowel disease 14}	semapv:ManualMappingCuration	2017-10-03
DOID:0110896	inflammatory bowel disease 16	skos:exactMatch	MIM:612259	{Inflammatory bowel disease 16}	semapv:ManualMappingCuration	2017-10-03
DOID:0110897	inflammatory bowel disease 15	skos:exactMatch	MIM:612255	{Inflammatory bowel disease 15}	semapv:ManualMappingCuration	2017-10-03
DOID:0110898	inflammatory bowel disease 20	skos:exactMatch	MIM:612288	{Inflammatory bowel disease 20}	semapv:ManualMappingCuration	2017-10-03
DOID:0110899	inflammatory bowel disease 28	skos:exactMatch	MIM:613148	Inflammatory bowel disease 28, early onset, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110900	inflammatory bowel disease 2	skos:exactMatch	MIM:601458	{Inflammatory bowel disease 2}	semapv:ManualMappingCuration	2017-10-03
DOID:0110901	inflammatory bowel disease 26	skos:exactMatch	MIM:612639	{Inflammatory bowel disease 26}	semapv:ManualMappingCuration	2017-10-03
DOID:0110902	inflammatory bowel disease 27	skos:exactMatch	MIM:612796	{Inflammatory bowel disease 27}	semapv:ManualMappingCuration	2017-10-03
DOID:0110903	inflammatory bowel disease 4	skos:exactMatch	MIM:606675	{Inflammatory bowel disease 4}	semapv:ManualMappingCuration	2017-10-03
DOID:0110904	inflammatory bowel disease 8	skos:exactMatch	MIM:606668	{Inflammatory bowel disease 8}	semapv:ManualMappingCuration	2017-10-03
DOID:0110905	inflammatory bowel disease 22	skos:exactMatch	MIM:612380	{Inflammatory bowel disease 22}	semapv:ManualMappingCuration	2017-10-03
DOID:0110906	inflammatory bowel disease 21	skos:exactMatch	MIM:612354	{Inflammatory bowel disease 21}	semapv:ManualMappingCuration	2017-10-03
DOID:0110907	inflammatory bowel disease 6	skos:exactMatch	MIM:606674	{Inflammatory bowel disease 6}	semapv:ManualMappingCuration	2017-10-03
DOID:0110908	inflammatory bowel disease 24	skos:exactMatch	MIM:612566	{Inflammatory bowel disease 24}	semapv:ManualMappingCuration	2017-10-03
DOID:0110909	inflammatory bowel disease 25	skos:exactMatch	MIM:612567	Inflammatory bowel disease 25, early onset, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110910	leukocyte adhesion deficiency 1	skos:exactMatch	MIM:116920	Leukocyte adhesion deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0110912	leukocyte adhesion deficiency 3	skos:exactMatch	MIM:612840	Leukocyte adhesion deficiency, type III	semapv:ManualMappingCuration	2017-10-03
DOID:0110913	adult hypophosphatasia	skos:exactMatch	MIM:146300	Odontohypophosphatasia	semapv:ManualMappingCuration	2017-10-03
DOID:0110914	infantile hypophosphatasia	skos:exactMatch	MIM:241500	Hypophosphatasia, infantile	semapv:ManualMappingCuration	2017-10-03
DOID:0110915	childhood hypophosphatasia	skos:exactMatch	MIM:241510	Hypophosphatasia, childhood	semapv:ManualMappingCuration	2017-10-03
DOID:0110916	hereditary spherocytosis type 1	skos:exactMatch	MIM:182900	Spherocytosis, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110917	hereditary spherocytosis type 2	skos:exactMatch	MIM:616649	Spherocytosis, type 2	semapv:ManualMappingCuration	2017-10-10
DOID:0110918	hereditary spherocytosis type 3	skos:exactMatch	MIM:270970	Spherocytosis, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110919	hereditary spherocytosis type 4	skos:exactMatch	MIM:612653	Spherocytosis, type 4	semapv:ManualMappingCuration	2017-10-03
DOID:0110920	hereditary spherocytosis type 5	skos:exactMatch	MIM:612690	Spherocytosis, type 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110921	familial hemophagocytic lymphohistiocytosis 1	skos:exactMatch	MIM:267700	Hemophagocytic lymphohistiocytosis, familial, 1	semapv:ManualMappingCuration	2018-09-04
DOID:0110922	familial hemophagocytic lymphohistiocytosis 2	skos:exactMatch	MIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110923	familial hemophagocytic lymphohistiocytosis 3	skos:exactMatch	MIM:608898	Hemophagocytic lymphohistiocytosis, familial, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110924	familial hemophagocytic lymphohistiocytosis 4	skos:exactMatch	MIM:603552	Hemophagocytic lymphohistiocytosis, familial, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0110925	familial hemophagocytic lymphohistiocytosis 5	skos:exactMatch	MIM:613101	Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease	semapv:ManualMappingCuration	2014-10-20
DOID:0110926	nemaline myopathy 1	skos:exactMatch	MIM:609284	Congenital myopathy 4B, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110927	nemaline myopathy 3	skos:exactMatch	MIM:161800	Congenital myopathy 2A, typical, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110928	nemaline myopathy 2	skos:exactMatch	MIM:256030	Nemaline myopathy 2, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110929	nemaline myopathy 9	skos:exactMatch	MIM:615731	Nemaline myopathy 9	semapv:ManualMappingCuration	2014-09-09
DOID:0110930	nemaline myopathy 8	skos:exactMatch	MIM:615348	Nemaline myopathy 8, autosomal recessive	semapv:ManualMappingCuration	2015-07-07
DOID:0110931	nemaline myopathy 10	skos:exactMatch	MIM:616165	Nemaline myopathy 10	semapv:ManualMappingCuration	2017-03-29
DOID:0110932	nemaline myopathy 4	skos:exactMatch	MIM:609285	Congenital myopathy 23	semapv:ManualMappingCuration	2017-10-03
DOID:0110933	nemaline myopathy 11	skos:exactMatch	MIM:617336	Congenital myopathy 24	semapv:ManualMappingCuration	2017-06-19
DOID:0110934	nemaline myopathy 7	skos:exactMatch	MIM:610687	Nemaline myopathy 7, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0110935	nemaline myopathy 6	skos:exactMatch	MIM:609273	Nemaline myopathy 6, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0110936	nemaline myopathy 5A	skos:exactMatch	MIM:605355	Nemaline myopathy 5A, autosomal recessive, severe infantile	semapv:ManualMappingCuration	2017-10-03
DOID:0110937	autosomal dominant osteopetrosis 1	skos:exactMatch	MIM:607634	Osteopetrosis, autosomal dominant 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110938	autosomal dominant osteopetrosis 2	skos:exactMatch	MIM:166600	Osteopetrosis, autosomal dominant 2	semapv:ManualMappingCuration	2018-01-16
DOID:0110939	autosomal recessive osteopetrosis 5	skos:exactMatch	MIM:259720	Osteopetrosis, autosomal recessive 5	semapv:ManualMappingCuration	2017-10-03
DOID:0110940	autosomal recessive osteopetrosis 8	skos:exactMatch	MIM:615085	Osteopetrosis, autosomal recessive 8	semapv:ManualMappingCuration	2014-09-09
DOID:0110941	autosomal recessive osteopetrosis 3	skos:exactMatch	MIM:259730	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis	semapv:ManualMappingCuration	2017-10-03
DOID:0110942	autosomal recessive osteopetrosis 1	skos:exactMatch	MIM:259700	Osteopetrosis, autosomal recessive 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110943	autosomal recessive osteopetrosis 2	skos:exactMatch	MIM:259710	Osteopetrosis, autosomal recessive 2	semapv:ManualMappingCuration	2014-06-23
DOID:0110944	autosomal recessive osteopetrosis 4	skos:exactMatch	MIM:611490	Osteopetrosis, autosomal recessive 4	semapv:ManualMappingCuration	2017-10-03
DOID:0110945	autosomal recessive osteopetrosis 6	skos:exactMatch	MIM:611497	?Osteopetrosis, autosomal recessive 6	semapv:ManualMappingCuration	2017-10-03
DOID:0110946	autosomal recessive osteopetrosis 7	skos:exactMatch	MIM:612301	Osteopetrosis, autosomal recessive 7	semapv:ManualMappingCuration	2017-10-03
DOID:0110947	Waardenburg syndrome type 2B	skos:exactMatch	MIM:600193	Waardenburg syndrome, type 2B	semapv:ManualMappingCuration	2017-10-03
DOID:0110948	Waardenburg syndrome type 1	skos:exactMatch	MIM:193500	Waardenburg syndrome, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110949	Waardenburg syndrome type 3	skos:exactMatch	MIM:148820	Waardenburg syndrome, type 3	semapv:ManualMappingCuration	2018-01-25
DOID:0110950	Waardenburg syndrome type 2A	skos:exactMatch	MIM:193510	Waardenburg syndrome, type 2A	semapv:ManualMappingCuration	2017-10-03
DOID:0110951	Waardenburg syndrome type 2C	skos:exactMatch	MIM:606662	Waardenburg syndrome, type 2C	semapv:ManualMappingCuration	2017-10-03
DOID:0110953	Waardenburg syndrome type 4A	skos:exactMatch	MIM:277580	Waardenburg syndrome, type 4A	semapv:ManualMappingCuration	2014-06-23
DOID:0110954	Waardenburg syndrome type 4B	skos:exactMatch	MIM:613265	Waardenburg syndrome, type 4B	semapv:ManualMappingCuration	2017-10-03
DOID:0110955	Waardenburg syndrome type 4C	skos:exactMatch	MIM:613266	Waardenburg syndrome, type 4C	semapv:ManualMappingCuration	2017-10-03
DOID:0110956	Waardenburg syndrome type 2E	skos:exactMatch	MIM:611584	Waardenburg syndrome, type 2E, with or without neurologic involvement	semapv:ManualMappingCuration	2017-10-03
DOID:0110957	Gaucher's disease type I	skos:exactMatch	MIM:230800	Gaucher disease, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0110958	Gaucher's disease type II	skos:exactMatch	MIM:230900	Gaucher disease, type II	semapv:ManualMappingCuration	2018-09-25
DOID:0110959	Gaucher's disease type III	skos:exactMatch	MIM:231000	Gaucher disease, type III	semapv:ManualMappingCuration	2018-08-31
DOID:0110960	Gaucher's disease perinatal lethal	skos:exactMatch	MIM:608013	Gaucher disease, perinatal lethal	semapv:ManualMappingCuration	2017-10-03
DOID:0110961	atypical Gaucher's disease due to saposin C deficiency	skos:exactMatch	MIM:610539	Gaucher disease, atypical	semapv:ManualMappingCuration	2017-10-03
DOID:0110962	brachydactyly-preaxial hallux varus syndrome	skos:exactMatch	MIM:112450	BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION	semapv:ManualMappingCuration	2018-08-21
DOID:0110963	Ballard syndrome	skos:exactMatch	MIM:112440	BRACHYDACTYLY, COMBINED B AND E TYPES	semapv:ManualMappingCuration	2018-08-21
DOID:0110964	brachydactyly type A1	skos:exactMatch	MIM:112500	Brachydactyly, type A1	semapv:ManualMappingCuration	2017-10-03
DOID:0110965	brachydactyly type A2	skos:exactMatch	MIM:112600	Brachydactyly, type A2	semapv:ManualMappingCuration	2017-10-03
DOID:0110966	brachydactyly type A3	skos:exactMatch	MIM:112700	BRACHYDACTYLY, TYPE A3	semapv:ManualMappingCuration	2018-08-21
DOID:0110967	brachydactyly type A4	skos:exactMatch	MIM:112800	BRACHYDACTYLY, TYPE A4	semapv:ManualMappingCuration	2017-02-08
DOID:0110968	brachydactyly type A6	skos:exactMatch	MIM:112910	OSEBOLD-REMONDINI SYNDROME	semapv:ManualMappingCuration	2018-08-21
DOID:0110969	brachydactyly type B1	skos:exactMatch	MIM:113000	Brachydactyly, type B1	semapv:ManualMappingCuration	2017-10-03
DOID:0110970	brachydactyly type C	skos:exactMatch	MIM:113100	Brachydactyly, type C	semapv:ManualMappingCuration	2017-10-03
DOID:0110971	brachydactyly type D	skos:exactMatch	MIM:113200	Brachydactyly, type D	semapv:ManualMappingCuration	2017-10-03
DOID:0110972	brachydactyly type E1	skos:exactMatch	MIM:113300	Brachydactyly, type E	semapv:ManualMappingCuration	2014-06-23
DOID:0110973	Mononen-Karnes-Senac syndrome	skos:exactMatch	MIM:301940	BRACHYDACTYLY, MONONEN TYPE	semapv:ManualMappingCuration	2018-08-22
DOID:0110974	brachydactyly type A1B	skos:exactMatch	MIM:607004	Brachydactyly, type A1, B	semapv:ManualMappingCuration	2017-10-03
DOID:0110975	brachydactyly type B2	skos:exactMatch	MIM:611377	Brachydactyly, type B2	semapv:ManualMappingCuration	2014-06-23
DOID:0110976	brachydactyly type E2	skos:exactMatch	MIM:613382	Brachydactyly, type E2	semapv:ManualMappingCuration	2014-06-23
DOID:0110977	brachydactyly type A1C	skos:exactMatch	MIM:615072	Brachydactyly, type A1, C	semapv:ManualMappingCuration	2014-09-02
DOID:0110978	brachydactyly type A1D	skos:exactMatch	MIM:616849	Brachydactyly, type A1, D	semapv:ManualMappingCuration	2016-04-12
DOID:0110979	Sugarman brachydactyly	skos:exactMatch	MIM:272150	SUGARMAN BRACHYDACTYLY	semapv:ManualMappingCuration	2018-08-22
DOID:0110980	Joubert syndrome 1	skos:exactMatch	MIM:213300	Joubert syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0110981	Joubert syndrome 10	skos:exactMatch	MIM:300804	Joubert syndrome 10	semapv:ManualMappingCuration	2017-10-03
DOID:0110982	Joubert Syndrome 13	skos:exactMatch	MIM:614173	Joubert syndrome 13	semapv:ManualMappingCuration	2014-09-09
DOID:0110983	Joubert syndrome 14	skos:exactMatch	MIM:614424	Joubert syndrome 14	semapv:ManualMappingCuration	2014-09-09
DOID:0110984	Joubert syndrome 15	skos:exactMatch	MIM:614464	Joubert syndrome 15	semapv:ManualMappingCuration	2014-09-09
DOID:0110985	Joubert Syndrome 16	skos:exactMatch	MIM:614465	Joubert syndrome 16	semapv:ManualMappingCuration	2014-09-09
DOID:0110986	Joubert Syndrome 17	skos:exactMatch	MIM:614615	Joubert syndrome 17	semapv:ManualMappingCuration	2014-09-09
DOID:0110987	Joubert Syndrome 18	skos:exactMatch	MIM:614815	Joubert syndrome 18	semapv:ManualMappingCuration	2014-09-09
DOID:0110988	Joubert Syndrome 2	skos:exactMatch	MIM:608091	Joubert syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0110989	Joubert syndrome 20	skos:exactMatch	MIM:614970	Joubert syndrome 20	semapv:ManualMappingCuration	2014-09-09
DOID:0110990	Joubert syndrome 21	skos:exactMatch	MIM:615636	Joubert syndrome 21	semapv:ManualMappingCuration	2014-09-09
DOID:0110991	Joubert syndrome 22	skos:exactMatch	MIM:615665	Joubert syndrome 22	semapv:ManualMappingCuration	2014-09-09
DOID:0110992	Joubert syndrome 23	skos:exactMatch	MIM:616490	Joubert syndrome 23	semapv:ManualMappingCuration	2016-11-09
DOID:0110993	Joubert syndrome 24	skos:exactMatch	MIM:616654	Joubert syndrome 24	semapv:ManualMappingCuration	2015-12-08
DOID:0110994	Joubert syndrome 25	skos:exactMatch	MIM:616781	Joubert syndrome 25	semapv:ManualMappingCuration	2016-03-10
DOID:0110995	Joubert Syndrome 26	skos:exactMatch	MIM:616784	Joubert syndrome 26	semapv:ManualMappingCuration	2016-03-11
DOID:0110996	Joubert Syndrome 27	skos:exactMatch	MIM:617120	Joubert syndrome 27	semapv:ManualMappingCuration	2016-10-11
DOID:0110997	Joubert Syndrome 28	skos:exactMatch	MIM:617121	Joubert syndrome 28	semapv:ManualMappingCuration	2016-10-11
DOID:0110998	Joubert syndrome 3	skos:exactMatch	MIM:608629	Joubert syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:0110999	Joubert syndrome 4	skos:exactMatch	MIM:609583	Joubert syndrome 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111000	Joubert syndrome 5	skos:exactMatch	MIM:610188	Joubert syndrome 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111001	Joubert syndrome 6	skos:exactMatch	MIM:610688	Joubert syndrome 6	semapv:ManualMappingCuration	2017-10-03
DOID:0111002	Joubert syndrome 7	skos:exactMatch	MIM:611560	Joubert syndrome 7	semapv:ManualMappingCuration	2017-10-03
DOID:0111003	Joubert syndrome 8	skos:exactMatch	MIM:612291	Joubert syndrome 8	semapv:ManualMappingCuration	2017-10-03
DOID:0111004	Joubert syndrome 9	skos:exactMatch	MIM:612285	Joubert syndrome 9	semapv:ManualMappingCuration	2017-10-03
DOID:0111005	cone-rod dystrophy 2	skos:exactMatch	MIM:120970	Cone-rod retinal dystrophy-2	semapv:ManualMappingCuration	2014-06-23
DOID:0111006	X-linked cone-rod dystrophy 2	skos:exactMatch	MIM:300085	Cone dystrophy, progressive X-linked, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111007	X-linked cone-rod dystrophy 3	skos:exactMatch	MIM:300476	Cone-rod dystrophy, X-linked, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111008	X-linked cone-rod dystrophy 1	skos:exactMatch	MIM:304020	Cone-rod dystrophy, X-linked, 1	semapv:ManualMappingCuration	2014-06-23
DOID:0111009	cone-rod dystrophy 1	skos:exactMatch	MIM:600624	Cone-rod retinal dystrophy-1	semapv:ManualMappingCuration	2017-10-03
DOID:0111010	cone-rod dystrophy 5	skos:exactMatch	MIM:600977	Cone-rod dystrophy 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111011	cone-rod dystrophy 6	skos:exactMatch	MIM:601777	Cone-rod dystrophy 6	semapv:ManualMappingCuration	2017-10-03
DOID:0111012	cone-rod dystrophy 7	skos:exactMatch	MIM:603649	Cone-rod dystrophy 7	semapv:ManualMappingCuration	2017-10-03
DOID:0111013	cone-rod dystrophy 3	skos:exactMatch	MIM:604116	Cone-rod dystrophy 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111014	cone-rod dystrophy 8	skos:exactMatch	MIM:605549	Cone-rod dystrophy 8	semapv:ManualMappingCuration	2017-10-03
DOID:0111015	Newfoundland cone-rod dystrophy	skos:exactMatch	MIM:607476	Newfoundland rod-cone dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0111016	cone-rod dystrophy 13	skos:exactMatch	MIM:608194	Cone-rod dystrophy 13	semapv:ManualMappingCuration	2017-10-03
DOID:0111017	cone-rod dystrophy 10	skos:exactMatch	MIM:610283	Cone-rod dystrophy 10	semapv:ManualMappingCuration	2017-10-03
DOID:0111018	cone-rod dystrophy 11	skos:exactMatch	MIM:610381	Cone-rod dystrophy 11	semapv:ManualMappingCuration	2017-10-03
DOID:0111019	cone-rod dystrophy 12	skos:exactMatch	MIM:612657	Cone-rod dystrophy 12	semapv:ManualMappingCuration	2017-10-03
DOID:0111020	cone-rod dystrophy 9	skos:exactMatch	MIM:612775	Cone-rod dystrophy 9	semapv:ManualMappingCuration	2014-06-23
DOID:0111021	cone-rod dystrophy 15	skos:exactMatch	MIM:613660	Macular dystrophy, retinal	semapv:ManualMappingCuration	2014-06-23
DOID:0111022	cone-rod dystrophy 16	skos:exactMatch	MIM:614500	Retinitis pigmentosa 64	semapv:ManualMappingCuration	2014-09-09
DOID:0111023	cone-rod dystrophy 17	skos:exactMatch	MIM:615163	Cone-rod dystrophy 17	semapv:ManualMappingCuration	2017-09-08
DOID:0111024	cone-rod dystrophy 18	skos:exactMatch	MIM:615374	Cone-rod dystrophy 18	semapv:ManualMappingCuration	2014-09-09
DOID:0111025	cone-rod dystrophy 19	skos:exactMatch	MIM:615860	Cone-rod dystrophy 19	semapv:ManualMappingCuration	2017-02-28
DOID:0111026	cone-rod dystrophy 20	skos:exactMatch	MIM:615973	Cone-rod dystrophy 20	semapv:ManualMappingCuration	2017-02-28
DOID:0111027	hemochromatosis type 2A	skos:exactMatch	MIM:602390	Hemochromatosis, type 2A	semapv:ManualMappingCuration	2017-10-17
DOID:0111028	hemochromatosis type 4	skos:exactMatch	MIM:606069	Hemochromatosis, type 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111029	hemochromatosis type 1	skos:exactMatch	MIM:235200	Hemochromatosis, type 1	semapv:ManualMappingCuration	2017-10-17
DOID:0111030	hemochromatosis type 3	skos:exactMatch	MIM:604250	Hemochromatosis, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111031	hemochromatosis type 5	skos:exactMatch	MIM:615517	?Hemochromatosis, type 5	semapv:ManualMappingCuration	2014-10-20
DOID:0111032	hemochromatosis type 2B	skos:exactMatch	MIM:613313	Hemochromatosis, type 2B	semapv:ManualMappingCuration	2017-10-03
DOID:0111033	African iron overload	skos:exactMatch	MIM:601195	IRON OVERLOAD IN AFRICA	semapv:ManualMappingCuration	2018-08-22
DOID:0111035	CADASIL 1	skos:exactMatch	MIM:125310	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1	semapv:ManualMappingCuration	2018-01-17
DOID:0111036	CADASIL2	skos:exactMatch	MIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	semapv:ManualMappingCuration	2016-02-09
DOID:0111037	glycine N-methyltransferase deficiency	skos:exactMatch	MIM:606664	Glycine N-methyltransferase deficiency	semapv:ManualMappingCuration	2018-02-14
DOID:0111038	hypermethioninemia due to adenosine kinase deficiency	skos:exactMatch	MIM:614300	Hypermethioninemia due to adenosine kinase deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	skos:exactMatch	MIM:613752	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	semapv:ManualMappingCuration	2018-01-03
DOID:0111040	glycogen storage disease IXD	skos:exactMatch	MIM:300559	Muscle glycogenosis	semapv:ManualMappingCuration	2017-10-03
DOID:0111041	glycogen storage disease IXB	skos:exactMatch	MIM:261750	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0111042	glycogen storage disease IXA	skos:exactMatch	MIM:306000	Glycogen storage disease, type IXa2	semapv:ManualMappingCuration	2014-06-23
DOID:0111043	glycogen storage disease IXC	skos:exactMatch	MIM:613027	Glycogen storage disease IXc	semapv:ManualMappingCuration	2017-10-03
DOID:0111044	gray platelet syndrome	skos:exactMatch	MIM:139090	Gray platelet syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111045	platelet-type bleeding disorder 9	skos:exactMatch	MIM:614200	Bleeding disorder, platelet-type, 9	semapv:ManualMappingCuration	2014-10-20
DOID:0111046	platelet-type bleeding disorder 10	skos:exactMatch	MIM:608404	Platelet glycoprotein IV deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111047	platelet-type bleeding disorder 14	skos:exactMatch	MIM:614158	Bleeding disorder, platelet-type, 14	semapv:ManualMappingCuration	2014-10-20
DOID:0111048	platelet-type bleeding disorder 19	skos:exactMatch	MIM:616176	?Bleeding disorder, platelet-type, 19	semapv:ManualMappingCuration	2017-02-24
DOID:0111049	platelet-type bleeding disorder 17	skos:exactMatch	MIM:187900	Bleeding disorder, platelet-type, 17	semapv:ManualMappingCuration	2014-10-20
DOID:0111050	Quebec platelet disorder	skos:exactMatch	MIM:601709	Quebec platelet disorder	semapv:ManualMappingCuration	2014-10-20
DOID:0111051	platelet-type bleeding disorder 18	skos:exactMatch	MIM:615888	?Bleeding disorder, platelet-type, 18	semapv:ManualMappingCuration	2017-02-24
DOID:0111052	Scott syndrome	skos:exactMatch	MIM:262890	Scott syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111053	platelet-type bleeding disorder 15	skos:exactMatch	MIM:615193	Bleeding disorder, platelet-type, 15	semapv:ManualMappingCuration	2014-09-02
DOID:0111054	von Willebrand's disease 3	skos:exactMatch	MIM:277480	von Willebrand disease, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111055	platelet-type bleeding disorder 20	skos:exactMatch	MIM:616913	Bleeding disorder, platelet-type, 20	semapv:ManualMappingCuration	2016-05-20
DOID:0111056	platelet-type bleeding disorder 3	skos:exactMatch	MIM:177820	von Willebrand disease, platelet-type	semapv:ManualMappingCuration	2017-10-03
DOID:0111057	platelet-type bleeding disorder 11	skos:exactMatch	MIM:614201	Bleeding disorder, platelet-type, 11	semapv:ManualMappingCuration	2014-09-02
DOID:0111058	platelet-type bleeding disorder 12	skos:exactMatch	MIM:605735	BLEEDING DISORDER, PLATELET-TYPE, 12	semapv:ManualMappingCuration	2018-08-21
DOID:0111059	Bernard-Soulier syndrome type A2	skos:exactMatch	MIM:153670	Bernard-Soulier syndrome, type A2 (dominant)	semapv:ManualMappingCuration	2014-06-23
DOID:0111060	Ambras type hypertrichosis universalis congenita	skos:exactMatch	MIM:145701	?Hypertrichosis universalis congenita, Ambras type	semapv:ManualMappingCuration	2017-10-03
DOID:0111061	familial hypobetalipoproteinemia 2	skos:exactMatch	MIM:605019	Hypobetalipoproteinemia, familial, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111062	familial hypobetalipoproteinemia 1	skos:exactMatch	MIM:615558	Hypobetalipoproteinemia	semapv:ManualMappingCuration	2014-10-20
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1	skos:exactMatch	MIM:604320	Neuronopathy, distal hereditary motor, autosomal recessive 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111065	autosomal recessive distal hereditary motor neuronopathy 2	skos:exactMatch	MIM:605726	?Neuronopathy, distal hereditary motor, autosomal recessive 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111066	congenital bile acid synthesis defect 5	skos:exactMatch	MIM:616278	?Bile acid synthesis defect, congenital, 5	semapv:ManualMappingCuration	2017-02-24
DOID:0111067	congenital bile acid synthesis defect 6	skos:exactMatch	MIM:617308	Bile acid synthesis defect, congenital, 6	semapv:ManualMappingCuration	2017-02-24
DOID:0111068	congenital bile acid synthesis defect 4	skos:exactMatch	MIM:214950	Bile acid synthesis defect, congenital, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111069	congenital bile acid synthesis defect 2	skos:exactMatch	MIM:235555	Bile acid synthesis defect, congenital, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111070	congenital bile acid synthesis defect 3	skos:exactMatch	MIM:613812	Bile acid synthesis defect, congenital, 3	semapv:ManualMappingCuration	2014-10-20
DOID:0111071	congenital bile acid synthesis defect 1	skos:exactMatch	MIM:607765	Bile acid synthesis defect, congenital, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111072	myostatin-related muscle hypertrophy	skos:exactMatch	MIM:614160	?Muscle hypertrophy	semapv:ManualMappingCuration	2018-08-21
DOID:0111073	progressive familial heart block	skos:exactMatch	MIM:PS113900	Heart block, progressive, type IA	semapv:ManualMappingCuration	2018-06-29
DOID:0111074	progressive familial heart block type IA	skos:exactMatch	MIM:113900	Heart block, progressive, type IA	semapv:ManualMappingCuration	2014-06-23
DOID:0111075	progressive familial heart block type II	skos:exactMatch	MIM:140400	Progressive familial heart block, type II	semapv:ManualMappingCuration	2018-08-21
DOID:0111076	progressive familial heart block type IB	skos:exactMatch	MIM:604559	Progressive familial heart block, type IB	semapv:ManualMappingCuration	2017-10-03
DOID:0111077	pyruvate kinase deficiency of red cells	skos:exactMatch	MIM:266200	Anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient	semapv:ManualMappingCuration	2017-10-03
DOID:0111078	tibial muscular dystrophy	skos:exactMatch	MIM:600334	Tibial muscular dystrophy, tardive	semapv:ManualMappingCuration	2018-07-17
DOID:0111079	birdshot chorioretinopathy	skos:exactMatch	MIM:605808	BIRDSHOT CHORIORETINOPATHY	semapv:ManualMappingCuration	2018-08-22
DOID:0111080	Fanconi anemia complementation group V	skos:exactMatch	MIM:617243	?Fanconi anemia, complementation group V	semapv:ManualMappingCuration	2017-07-11
DOID:0111081	Fanconi anemia complementation group T	skos:exactMatch	MIM:616435	Fanconi anemia, complementation group T	semapv:ManualMappingCuration	2017-02-16
DOID:0111082	Fanconi anemia complementation group L	skos:exactMatch	MIM:614083	Fanconi anemia, complementation group L	semapv:ManualMappingCuration	2014-09-09
DOID:0111083	Fanconi anemia complementation group D2	skos:exactMatch	MIM:227646	Fanconi anemia, complementation group D2	semapv:ManualMappingCuration	2014-06-23
DOID:0111084	Fanconi anemia complementation group E	skos:exactMatch	MIM:600901	Fanconi anemia, complementation group E	semapv:ManualMappingCuration	2014-06-23
DOID:0111085	Fanconi anemia complementation group U	skos:exactMatch	MIM:617247	?Fanconi anemia, complementation group U	semapv:ManualMappingCuration	2017-09-19
DOID:0111086	Fanconi anemia complementation group G	skos:exactMatch	MIM:614082	Fanconi anemia, complementation group G	semapv:ManualMappingCuration	2014-09-09
DOID:0111087	Fanconi anemia complementation group C	skos:exactMatch	MIM:227645	Fanconi anemia, complementation group C	semapv:ManualMappingCuration	2014-06-23
DOID:0111088	Fanconi anemia complementation group F	skos:exactMatch	MIM:603467	Fanconi anemia, complementation group F	semapv:ManualMappingCuration	2014-06-23
DOID:0111089	Fanconi anemia complementation group D1	skos:exactMatch	MIM:605724	Fanconi anemia, complementation group D1	semapv:ManualMappingCuration	2017-10-03
DOID:0111090	Fanconi anemia complementation group R	skos:exactMatch	MIM:617244	Fanconi anemia, complementation group R	semapv:ManualMappingCuration	2017-02-16
DOID:0111091	Fanconi anemia complementation group I	skos:exactMatch	MIM:609053	Fanconi anemia, complementation group I	semapv:ManualMappingCuration	2017-10-03
DOID:0111092	Fanconi anemia complementation group P	skos:exactMatch	MIM:613951	Fanconi anemia, complementation group P	semapv:ManualMappingCuration	2014-09-09
DOID:0111093	Fanconi anemia complementation group Q	skos:exactMatch	MIM:615272	Fanconi anemia, complementation group Q	semapv:ManualMappingCuration	2014-09-09
DOID:0111094	Fanconi anemia complementation group N	skos:exactMatch	MIM:610832	Fanconi anemia, complementation group N	semapv:ManualMappingCuration	2017-10-03
DOID:0111095	Fanconi anemia complementation group A	skos:exactMatch	MIM:227650	Fanconi anemia, complementation group A	semapv:ManualMappingCuration	2018-12-13
DOID:0111096	Fanconi anemia complementation group O	skos:exactMatch	MIM:613390	Fanconi anemia, complementation group O	semapv:ManualMappingCuration	2014-06-23
DOID:0111097	Fanconi anemia complementation group J	skos:exactMatch	MIM:609054	Fanconi anemia, complementation group J	semapv:ManualMappingCuration	2017-10-03
DOID:0111098	Fanconi anemia complementation group B	skos:exactMatch	MIM:300514	Fanconi anemia, complementation group B	semapv:ManualMappingCuration	2017-10-03
DOID:0111099	maturity-onset diabetes of the young type 1	skos:exactMatch	MIM:125850	MODY, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0111100	maturity-onset diabetes of the young type 2	skos:exactMatch	MIM:125851	MODY, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0111101	maturity-onset diabetes of the young type 5	skos:exactMatch	MIM:137920	Renal cysts and diabetes syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111102	maturity-onset diabetes of the young type 3	skos:exactMatch	MIM:600496	MODY, type III	semapv:ManualMappingCuration	2017-10-03
DOID:0111103	maturity-onset diabetes of the young type 4	skos:exactMatch	MIM:606392	MODY, type IV	semapv:ManualMappingCuration	2017-10-03
DOID:0111104	maturity-onset diabetes of the young type 6	skos:exactMatch	MIM:606394	Maturity-onset diabetes of the young 6	semapv:ManualMappingCuration	2017-10-03
DOID:0111105	maturity-onset diabetes of the young type 8	skos:exactMatch	MIM:609812	Maturity-onset diabetes of the young, type VIII	semapv:ManualMappingCuration	2017-10-03
DOID:0111106	maturity-onset diabetes of the young type 7	skos:exactMatch	MIM:610508	Maturity-onset diabetes of the young, type VII	semapv:ManualMappingCuration	2017-10-03
DOID:0111107	maturity-onset diabetes of the young type 9	skos:exactMatch	MIM:612225	Maturity-onset diabetes of the young, type IX	semapv:ManualMappingCuration	2017-10-03
DOID:0111108	maturity-onset diabetes of the young type 10	skos:exactMatch	MIM:613370	Maturity-onset diabetes of the young, type 10	semapv:ManualMappingCuration	2014-06-23
DOID:0111109	maturity-onset diabetes of the young type 11	skos:exactMatch	MIM:613375	Maturity-onset diabetes of the young, type 11	semapv:ManualMappingCuration	2014-06-23
DOID:0111110	maturity-onset diabetes of the young type 13	skos:exactMatch	MIM:616329	Maturity-onset diabetes of the young, type 13	semapv:ManualMappingCuration	2015-05-12
DOID:0111111	maturity-onset diabetes of the young type 14	skos:exactMatch	MIM:616511	{Maturity-onset diabetes of the young, type 14}	semapv:ManualMappingCuration	2017-05-04
DOID:0111112	nephronophthisis 1	skos:exactMatch	MIM:256100	Nephronophthisis 1, juvenile	semapv:ManualMappingCuration	2017-10-03
DOID:0111113	nephronophthisis 2	skos:exactMatch	MIM:602088	Nephronophthisis 2, infantile	semapv:ManualMappingCuration	2017-10-03
DOID:0111114	nephronophthisis 3	skos:exactMatch	MIM:604387	Nephronophthisis 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111115	nephronophthisis 4	skos:exactMatch	MIM:606966	Nephronophthisis 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111116	nephronophthisis 7	skos:exactMatch	MIM:611498	Nephronophthisis 7	semapv:ManualMappingCuration	2017-10-03
DOID:0111117	nephronophthisis-like nephropathy 1	skos:exactMatch	MIM:613159	Nephronophthisis-like nephropathy 1	semapv:ManualMappingCuration	2014-06-23
DOID:0111118	nephronophthisis 11	skos:exactMatch	MIM:613550	Nephronophthisis 11	semapv:ManualMappingCuration	2014-06-23
DOID:0111119	nephronophthisis 12	skos:exactMatch	MIM:613820	Nephronophthisis 12	semapv:ManualMappingCuration	2014-09-09
DOID:0111120	nephronophthisis 9	skos:exactMatch	MIM:613824	?Nephronophthisis 9	semapv:ManualMappingCuration	2014-09-09
DOID:0111121	nephronophthisis 13	skos:exactMatch	MIM:614377	Nephronophthisis 13	semapv:ManualMappingCuration	2014-09-09
DOID:0111122	nephronophthisis 14	skos:exactMatch	MIM:614844	Joubert syndrome 19	semapv:ManualMappingCuration	2014-09-09
DOID:0111123	nephronophthisis 15	skos:exactMatch	MIM:614845	Nephronophthisis 15	semapv:ManualMappingCuration	2014-09-09
DOID:0111124	nephronophthisis 16	skos:exactMatch	MIM:615382	Nephronophthisis 16	semapv:ManualMappingCuration	2014-09-09
DOID:0111125	nephronophthisis 18	skos:exactMatch	MIM:615862	Nephronophthisis 18	semapv:ManualMappingCuration	2014-09-09
DOID:0111126	nephronophthisis 19	skos:exactMatch	MIM:616217	Nephronophthisis 19	semapv:ManualMappingCuration	2016-09-09
DOID:0111127	nephronophthisis 20	skos:exactMatch	MIM:617271	Nephronophthisis 20	semapv:ManualMappingCuration	2017-03-29
DOID:0111128	focal segmental glomerulosclerosis 1	skos:exactMatch	MIM:603278	Glomerulosclerosis, focal segmental, 1	semapv:ManualMappingCuration	2018-02-21
DOID:0111129	focal segmental glomerulosclerosis 2	skos:exactMatch	MIM:603965	Glomerulosclerosis, focal segmental, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111130	focal segmental glomerulosclerosis 5	skos:exactMatch	MIM:613237	Glomerulosclerosis, focal segmental, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111131	focal segmental glomerulosclerosis 6	skos:exactMatch	MIM:614131	Glomerulosclerosis, focal segmental, 6	semapv:ManualMappingCuration	2014-09-09
DOID:0111132	focal segmental glomerulosclerosis 7	skos:exactMatch	MIM:616002	Glomerulosclerosis, focal segmental, 7	semapv:ManualMappingCuration	2017-02-16
DOID:0111133	focal segmental glomerulosclerosis 8	skos:exactMatch	MIM:616032	Focal segmental glomerulosclerosis 8	semapv:ManualMappingCuration	2017-02-16
DOID:0111134	focal segmental glomerulosclerosis 9	skos:exactMatch	MIM:616220	Focal segmental glomerulosclerosis 9	semapv:ManualMappingCuration	2017-02-16
DOID:0111135	congenital generalized lipodystrophy type 1	skos:exactMatch	MIM:608594	Lipodystrophy, congenital generalized, type 1	semapv:ManualMappingCuration	2018-03-13
DOID:0111136	congenital generalized lipodystrophy type 2	skos:exactMatch	MIM:269700	Lipodystrophy, congenital generalized, type 2	semapv:ManualMappingCuration	2018-05-22
DOID:0111137	congenital generalized lipodystrophy type 3	skos:exactMatch	MIM:612526	Lipodystrophy, congenital generalized, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111138	congenital generalized lipodystrophy type 4	skos:exactMatch	MIM:613327	Lipodystrophy, congenital generalized, type 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111139	mitochondrial complex III deficiency	skos:exactMatch	MIM:PS124000	Mitochondrial complex III deficiency, nuclear type 1	semapv:ManualMappingCuration	2019-03-26
DOID:0111140	IGSF1 deficiency syndrome	skos:exactMatch	MIM:300888	Hypothyroidism, central, and testicular enlargement	semapv:ManualMappingCuration	2014-09-09
DOID:0111141	delayed sleep phase syndrome	skos:exactMatch	MIM:614163	{Delayed sleep phase disorder, susceptibility to}	semapv:ManualMappingCuration	2017-03-03
DOID:0111143	mitochondrial complex V (ATP synthase) deficiency	skos:exactMatch	MIM:PS604273	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	semapv:ManualMappingCuration	2019-03-28
DOID:0111144	preterm premature rupture of the membranes	skos:exactMatch	MIM:610504	{Preterm premature rupture of the membranes, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0111149	autosomal recessive isolated ectopia lentis 2	skos:exactMatch	MIM:225100	Ectopia lentis, isolated, autosomal recessive	semapv:ManualMappingCuration	2014-06-23
DOID:0111150	autosomal dominant isolated ectopia lentis 1	skos:exactMatch	MIM:129600	Ectopia lentis, familial	semapv:ManualMappingCuration	2014-06-23
DOID:0111153	congenital mirror movement disorder	skos:exactMatch	MIM:PS157600	Mirror movements 1 and/or agenesis of the corpus callosum	semapv:ManualMappingCuration	2019-03-26
DOID:0111155	autosomal recessive spinocerebellar ataxia 21	skos:exactMatch	MIM:616719	Spinocerebellar ataxia, autosomal recessive 21	semapv:ManualMappingCuration	2018-04-13
DOID:0111156	spermatogenic failure 9	skos:exactMatch	MIM:613958	Spermatogenic failure 9	semapv:ManualMappingCuration	2014-09-02
DOID:0111158	SADDAN	skos:exactMatch	MIM:616482	SADDAN	semapv:ManualMappingCuration	2018-04-12
DOID:0111160	camptodactyly-tall stature-scoliosis-hearing loss syndrome	skos:exactMatch	MIM:610474	CATSHL syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111161	Crouzon syndrome-acanthosis nigricans syndrome	skos:exactMatch	MIM:612247	Crouzon syndrome with acanthosis nigricans	semapv:ManualMappingCuration	2017-10-03
DOID:0111162	epidermal nevus	skos:exactMatch	MIM:162900	Nevus sebaceous or woolly hair nevus, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:0111163	molybdenum cofactor deficiency type B	skos:exactMatch	MIM:252160	Molybdenum cofactor deficiency B	semapv:ManualMappingCuration	2014-10-20
DOID:0111164	molybdenum cofactor deficiency type A	skos:exactMatch	MIM:252150	Molybdenum cofactor deficiency A	semapv:ManualMappingCuration	2016-01-19
DOID:0111165	molybdenum cofactor deficiency	skos:exactMatch	MIM:PS252150	Molybdenum cofactor deficiency A	semapv:ManualMappingCuration	2018-06-29
DOID:0111166	molybdenum cofactor deficiency type C	skos:exactMatch	MIM:615501	Molybdenum cofactor deficiency C	semapv:ManualMappingCuration	2017-10-10
DOID:0111167	Dyggve-Melchior-Clausen disease	skos:exactMatch	MIM:223800	Dyggve-Melchior-Clausen disease	semapv:ManualMappingCuration	2017-10-03
DOID:0111167	Dyggve-Melchior-Clausen disease	skos:exactMatch	MIM:304950	DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED	semapv:ManualMappingCuration	2022-11-14
DOID:0111168	sepiapterin reductase deficiency	skos:exactMatch	MIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111169	subcortical band heterotopia	skos:exactMatch	MIM:600348	Band heterotopia	semapv:ManualMappingCuration	2017-10-10
DOID:0111170	autosomal dominant sensory ataxia 1	skos:exactMatch	MIM:608984	Ataxia, sensory, 1, autosomal dominant	semapv:ManualMappingCuration	2014-06-23
DOID:0111180	French Canadian Leigh disease	skos:exactMatch	MIM:220111	Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)	semapv:ManualMappingCuration	2017-10-03
DOID:0111181	familial hemiplegic migraine 1	skos:exactMatch	MIM:141500	Migraine, familial hemiplegic, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111182	familial hemiplegic migraine 2	skos:exactMatch	MIM:602481	Migraine, familial basilar	semapv:ManualMappingCuration	2017-10-03
DOID:0111183	familial hemiplegic migraine 3	skos:exactMatch	MIM:609634	Migraine, familial hemiplegic, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111184	myopathy, lactic acidosis, and sideroblastic anemia 3	skos:exactMatch	MIM:500011	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3	semapv:ManualMappingCuration	2018-04-23
DOID:0111185	myopathy, lactic acidosis, and sideroblastic anemia 1	skos:exactMatch	MIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111186	myopathy, lactic acidosis, and sideroblastic anemia 2	skos:exactMatch	MIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111187	distal myopathy with anterior tibial onset	skos:exactMatch	MIM:606768	Myopathy, distal, with anterior tibial onset	semapv:ManualMappingCuration	2017-10-03
DOID:0111188	myofibrillar myopathy 9	skos:exactMatch	MIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure	semapv:ManualMappingCuration	2019-06-29
DOID:0111189	distal myopathy 3	skos:exactMatch	MIM:610099	?Myopathy, distal, 3	semapv:ManualMappingCuration	2019-01-21
DOID:0111190	distal myopathy 4	skos:exactMatch	MIM:614065	Myopathy, distal, 4	semapv:ManualMappingCuration	2014-09-09
DOID:0111191	distal myopathy Tateyama type	skos:exactMatch	MIM:614321	Myopathy, distal, Tateyama type	semapv:ManualMappingCuration	2014-09-09
DOID:0111192	facioscapulohumeral muscular dystrophy 1	skos:exactMatch	MIM:158900	Facioscapulohumeral muscular dystrophy 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111193	facioscapulohumeral muscular dystrophy 2	skos:exactMatch	MIM:158901	Facioscapulohumeral muscular dystrophy 2, digenic	semapv:ManualMappingCuration	2017-10-03
DOID:0111194	autosomal dominant adult-onset proximal spinal muscular atrophy	skos:exactMatch	MIM:182980	Spinal muscular atrophy, late-onset, Finkel type	semapv:ManualMappingCuration	2017-10-03
DOID:0111195	erythrokeratodermia variabilis et progressiva 1	skos:exactMatch	MIM:133200	Erythrokeratodermia variabilis et progressiva 1	semapv:ManualMappingCuration	2015-12-11
DOID:0111196	X-linked distal spinal muscular atrophy 3	skos:exactMatch	MIM:300489	Neuronopathy, distal hereditary motor, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0111197	autosomal recessive distal hereditary motor neuronopathy	skos:exactMatch	MIM:PS604320	Neuronopathy, distal hereditary motor, autosomal recessive 1	semapv:ManualMappingCuration	2024-01-31
DOID:0111198	autosomal dominant distal hereditary motor neuronopathy	skos:exactMatch	MIM:PS182960	Neuronopathy, distal hereditary motor, autosomal dominant 1	semapv:ManualMappingCuration	2024-01-31
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7	skos:exactMatch	MIM:158580	Neuronopathy, distal hereditary motor, autosomal dominant 7	semapv:ManualMappingCuration	2017-10-03
DOID:0111200	autosomal dominant distal hereditary motor neuronopathy 1	skos:exactMatch	MIM:182960	Neuronopathy, distal hereditary motor, autosomal dominant 1	semapv:ManualMappingCuration	2019-06-29
DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14	skos:exactMatch	MIM:607641	Neuronopathy, distal hereditary motor, autosomal dominant 14	semapv:ManualMappingCuration	2017-10-03
DOID:0111203	autosomal dominant distal hereditary motor neuronopathy 5	skos:exactMatch	MIM:600794	Neuronopathy, distal hereditary motor, autosomal dominant 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111205	autosomal dominant distal hereditary motor neuronopathy 12	skos:exactMatch	MIM:614751	?Neuronopathy, distal hereditary motor, autosomal dominant 12	semapv:ManualMappingCuration	2014-09-09
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2	skos:exactMatch	MIM:158590	Neuronopathy, distal hereditary motor, autosomal dominant 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3	skos:exactMatch	MIM:608634	Neuronopathy, distal hereditary motor, autosomal dominant 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111209	autosomal dominant distal hereditary motor neuronopathy 4	skos:exactMatch	MIM:613376	?Neuronopathy, distal hereditary motor, autosomal dominant 4	semapv:ManualMappingCuration	2014-06-23
DOID:0111210	autosomal dominant distal hereditary motor neuronopathy 6	skos:exactMatch	MIM:615575	Neuronopathy, distal hereditary motor, autosomal dominant 6	semapv:ManualMappingCuration	2014-09-09
DOID:0111211	autosomal recessive distal hereditary motor neuronopathy 3	skos:exactMatch	MIM:607088	Neuronopathy, distal hereditary motor, autosomal recessive 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9	skos:exactMatch	MIM:617721	Neuronopathy, distal hereditary motor, autosomal dominant 9	semapv:ManualMappingCuration	2017-12-06
DOID:0111213	autosomal recessive distal hereditary motor neuronopathy 4	skos:exactMatch	MIM:611067	Neuronopathy, distal hereditary motor, autosomal recessive 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111214	autosomal recessive distal hereditary motor neuronopathy 5	skos:exactMatch	MIM:614881	Neuronopathy, distal hereditary motor, autosomal recessive 5	semapv:ManualMappingCuration	2014-09-02
DOID:0111215	autosomal dominant distal hereditary motor neuronopathy 8	skos:exactMatch	MIM:600175	Neuronopathy, distal hereditary motor, autosomal dominant 8	semapv:ManualMappingCuration	2017-10-03
DOID:0111218	Friedreich ataxia 1	skos:exactMatch	MIM:229300	Friedreich ataxia	semapv:ManualMappingCuration	2017-10-03
DOID:0111219	Friedreich ataxia 2	skos:exactMatch	MIM:601992	Friedreich ataxia 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111220	centronuclear myopathy 2	skos:exactMatch	MIM:255200	Centronuclear myopathy 2	semapv:ManualMappingCuration	2018-01-17
DOID:0111221	centronuclear myopathy 6 with fiber-type disproportion	skos:exactMatch	MIM:617760	Centronuclear myopathy 6 with fiber-type disproportion	semapv:ManualMappingCuration	2018-01-17
DOID:0111222	centronuclear myopathy 5	skos:exactMatch	MIM:615959	Centronuclear myopathy 5	semapv:ManualMappingCuration	2017-03-28
DOID:0111223	centronuclear myopathy 1	skos:exactMatch	MIM:160150	{Centronuclear myopathy, autosomal, modifier of}	semapv:ManualMappingCuration	2017-10-10
DOID:0111224	centronuclear myopathy 4	skos:exactMatch	MIM:614807	?Centronuclear myopathy 4	semapv:ManualMappingCuration	2014-09-09
DOID:0111225	centronuclear myopathy X-linked	skos:exactMatch	MIM:310400	MYOPATHY, CENTRONUCLEAR, X-LINKED	semapv:ManualMappingCuration	2017-10-10
DOID:0111226	X-linked congenital myopathy with fiber-type disproportion	skos:exactMatch	MIM:300580	Myopathy, congenital, with fiber-type disproportion, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7	skos:exactMatch	MIM:600795	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	semapv:ManualMappingCuration	2015-12-11
DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7	skos:exactMatch	MIM:614696	null	semapv:ManualMappingCuration	2014-10-20
DOID:0111228	Sveinsson chorioretinal atrophy	skos:exactMatch	MIM:108985	Sveinsson chorioretinal atrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0111229	congenital muscular dystrophy-dystroglycanopathy type A	skos:exactMatch	MIM:PS236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	semapv:ManualMappingCuration	2019-06-30
DOID:0111230	congenital muscular dystrophy-dystroglycanopathy type A11	skos:exactMatch	MIM:615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11	semapv:ManualMappingCuration	2014-09-09
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8	skos:exactMatch	MIM:614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8	semapv:ManualMappingCuration	2014-09-09
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9	skos:exactMatch	MIM:616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9	semapv:ManualMappingCuration	2017-03-13
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14	skos:exactMatch	MIM:615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14	semapv:ManualMappingCuration	2014-09-09
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7	skos:exactMatch	MIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	semapv:ManualMappingCuration	2014-09-09
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12	skos:exactMatch	MIM:615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12	semapv:ManualMappingCuration	2014-09-09
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3	skos:exactMatch	MIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1	skos:exactMatch	MIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111238	congenital muscular dystrophy-dystroglycanopathy type A13	skos:exactMatch	MIM:615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13	semapv:ManualMappingCuration	2014-09-09
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10	skos:exactMatch	MIM:615041	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10	semapv:ManualMappingCuration	2014-09-09
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2	skos:exactMatch	MIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	semapv:ManualMappingCuration	2017-07-27
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5	skos:exactMatch	MIM:613153	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5	semapv:ManualMappingCuration	2017-07-25
DOID:0111242	congenital muscular dystrophy-dystroglycanopathy type A6	skos:exactMatch	MIM:613154	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6	semapv:ManualMappingCuration	2017-07-27
DOID:0111243	acromicric dysplasia	skos:exactMatch	MIM:102370	Acromicric dysplasia	semapv:ManualMappingCuration	2014-10-20
DOID:0111244	palmoplantar keratoderma and congenital alopecia 1	skos:exactMatch	MIM:104100	Palmoplantar keratoderma with congenital alopecia	semapv:ManualMappingCuration	2017-10-10
DOID:0111245	palmoplantar keratoderma and congenital alopecia 2	skos:exactMatch	MIM:212360	PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 2	semapv:ManualMappingCuration	2019-06-30
DOID:0111246	amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	skos:exactMatch	MIM:105500	{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:0111247	hypertension and brachydactyly syndrome	skos:exactMatch	MIM:112410	Hypertension and brachydactyly syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111248	cerebrocostomandibular syndrome	skos:exactMatch	MIM:117650	Cerebrocostomandibular syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0111249	uveal coloboma-cleft lip and palate-intellectual disability	skos:exactMatch	MIM:120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	semapv:ManualMappingCuration	2014-10-20
DOID:0111250	Parkinson's disease 3	skos:exactMatch	MIM:602404	{Parkinson disease 3}	semapv:ManualMappingCuration	2017-10-03
DOID:0111251	Parkinson's disease 21	skos:exactMatch	MIM:616361	Parkinson disease 21	semapv:ManualMappingCuration	2017-10-10
DOID:0111252	vestibular schwannomatosis	skos:exactMatch	MIM:101000	Schwannomatosis, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:0111253	neurofibromatosis 1	skos:exactMatch	MIM:162200	Neurofibromatosis, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111254	glutaric acidemia I	skos:exactMatch	MIM:231670	Glutaricaciduria, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0111255	McKusick-Kaufman syndrome	skos:exactMatch	MIM:236700	McKusick-Kaufman syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111256	hyperferritinemia-cataract syndrome	skos:exactMatch	MIM:600886	Hyperferritinemia-cataract syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111257	gamma-glutamyl transpeptidase deficiency	skos:exactMatch	MIM:231950	?Glutathioninuria	semapv:ManualMappingCuration	2017-10-03
DOID:0111258	pentosuria	skos:exactMatch	MIM:260800	[Pentosuria]	semapv:ManualMappingCuration	2017-10-03
DOID:0111259	postaxial acrofacial dysostosis	skos:exactMatch	MIM:263750	Miller syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity	skos:exactMatch	MIM:300661	Phosphoribosylpyrophosphate synthetase superactivity	semapv:ManualMappingCuration	2017-10-03
DOID:0111261	fumarase deficiency	skos:exactMatch	MIM:606812	Fumarase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111262	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	skos:exactMatch	MIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	semapv:ManualMappingCuration	2014-06-23
DOID:0111263	combined malonic and methylmalonic acidemia	skos:exactMatch	MIM:614265	Combined malonic and methylmalonic aciduria	semapv:ManualMappingCuration	2014-10-20
DOID:0111264	Ruijs-Aalfs syndrome	skos:exactMatch	MIM:616200	Ruijs-Aalfs syndrome	semapv:ManualMappingCuration	2015-02-17
DOID:0111265	Boucher-Neuhauser syndrome	skos:exactMatch	MIM:215470	Boucher-Neuhauser syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111266	geroderma osteodysplasticum	skos:exactMatch	MIM:231070	Geroderma osteodysplasticum	semapv:ManualMappingCuration	2017-10-03
DOID:0111268	autosomal recessive hyaline body myopathy	skos:exactMatch	MIM:255160	Congenital myopathy 7B, myosin storage, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0111269	autosomal dominant hyaline body myopathy	skos:exactMatch	MIM:608358	Congenital myopathy 7A, myosin storage, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0111270	isolated sulfite oxidase deficiency	skos:exactMatch	MIM:272300	Sulfite oxidase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111271	Oliver-McFarlane syndrome	skos:exactMatch	MIM:275400	Oliver-McFarlane syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0111272	occipital horn syndrome	skos:exactMatch	MIM:304150	Occipital horn syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111273	NARP syndrome	skos:exactMatch	MIM:551500	NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA	semapv:ManualMappingCuration	2017-10-10
DOID:0111274	CODAS syndrome	skos:exactMatch	MIM:600373	CODAS syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0111275	speech-language disorder-1	skos:exactMatch	MIM:602081	Speech-language disorder-1	semapv:ManualMappingCuration	2017-10-10
DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	skos:exactMatch	MIM:607459	Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)	semapv:ManualMappingCuration	2017-10-03
DOID:0111277	mitochondrial trifunctional protein deficiency	skos:exactMatch	MIM:PS609015	Mitochondrial trifunctional protein deficiency 1	semapv:ManualMappingCuration	2023-07-11
DOID:0111278	histiocytosis-lymphadenopathy plus syndrome	skos:exactMatch	MIM:602782	Histiocytosis-lymphadenopathy plus syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111279	psoriasis 7	skos:exactMatch	MIM:605606	{Psoriasis susceptibility 7}	semapv:ManualMappingCuration	2017-10-03
DOID:0111280	psoriasis 4	skos:exactMatch	MIM:603935	{Psoriasis susceptibility 4}	semapv:ManualMappingCuration	2017-10-03
DOID:0111281	psoriasis 15	skos:exactMatch	MIM:616106	{Psoriasis 15, pustular, susceptibility to}	semapv:ManualMappingCuration	2017-04-03
DOID:0111282	psoriasis 5	skos:exactMatch	MIM:604316	{Psoriasis susceptibility 5}	semapv:ManualMappingCuration	2017-10-03
DOID:0111283	psoriasis 3	skos:exactMatch	MIM:601454	{Psoriasis susceptibility 3}	semapv:ManualMappingCuration	2017-10-03
DOID:0111284	psoriasis 9	skos:exactMatch	MIM:607857	{Psoriasis susceptibility 9}	semapv:ManualMappingCuration	2017-10-03
DOID:0111285	psoriasis 11	skos:exactMatch	MIM:612599	{Psoriasis susceptibility 11}	semapv:ManualMappingCuration	2017-10-03
DOID:0111286	psoriasis 1	skos:exactMatch	MIM:177900	{Psoriasis susceptibility 1}	semapv:ManualMappingCuration	2017-10-03
DOID:0111287	psoriasis 13	skos:exactMatch	MIM:614070	{Psoriasis susceptibility 13}	semapv:ManualMappingCuration	2014-10-23
DOID:0111288	psoriasis 8	skos:exactMatch	MIM:610707	{Psoriasis susceptibility 8}	semapv:ManualMappingCuration	2017-10-03
DOID:0111289	psoriasis 10	skos:exactMatch	MIM:612410	{Psoriasis susceptibility 10}	semapv:ManualMappingCuration	2017-10-03
DOID:0111290	psoriasis 6	skos:exactMatch	MIM:605364	{Psoriasis susceptibility 6}	semapv:ManualMappingCuration	2017-10-03
DOID:0111291	psoriasis 12	skos:exactMatch	MIM:612950	{Psoriasis susceptibility 12}	semapv:ManualMappingCuration	2017-10-03
DOID:0111292	idiopathic generalized epilepsy 10	skos:exactMatch	MIM:613060	{?Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0111293	generalized epilepsy with febrile seizures plus 4	skos:exactMatch	MIM:609800	Generalized epilepsy with febrile seizures plus, type 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111294	generalized epilepsy with febrile seizures plus 2	skos:exactMatch	MIM:604403	Generalized epilepsy with febrile seizures plus, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111295	generalized epilepsy with febrile seizures plus 7	skos:exactMatch	MIM:613863	Generalized epilepsy with febrile seizures plus, type 7	semapv:ManualMappingCuration	2014-10-20
DOID:0111296	generalized epilepsy with febrile seizures plus 10	skos:exactMatch	MIM:618482	Generalized epilepsy with febrile seizures plus, type 10	semapv:ManualMappingCuration	2019-06-26
DOID:0111297	familial febrile seizures	skos:exactMatch	MIM:PS121210	Febrile seizures, familial, 1	semapv:ManualMappingCuration	2020-02-07
DOID:0111298	familial febrile seizures 8	skos:exactMatch	MIM:607681	Generalized epilepsy with febrile seizures plus, type 3	semapv:ManualMappingCuration	2019-05-24
DOID:0111299	generalized epilepsy with febrile seizures plus 8	skos:exactMatch	MIM:613828	Generalized epilepsy with febrile seizures plus, type 8	semapv:ManualMappingCuration	2014-06-23
DOID:0111300	generalized epilepsy with febrile seizures plus 6	skos:exactMatch	MIM:612279	Generalized epilepsy with febrile seizures plus, type 6	semapv:ManualMappingCuration	2017-10-03
DOID:0111301	generalized epilepsy with febrile seizures plus 9	skos:exactMatch	MIM:616172	Generalized epilepsy with febrile seizures plus, type 9	semapv:ManualMappingCuration	2017-02-17
DOID:0111302	generalized epilepsy with febrile seizures plus 1	skos:exactMatch	MIM:604233	Generalized epilepsy with febrile seizures plus, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111303	familial febrile seizures 9	skos:exactMatch	MIM:611634	Febrile seizures, familial, 9	semapv:ManualMappingCuration	2017-10-03
DOID:0111304	familial febrile seizures 10	skos:exactMatch	MIM:612637	Febrile seizures, familial, 10	semapv:ManualMappingCuration	2017-10-03
DOID:0111305	familial febrile seizures 4	skos:exactMatch	MIM:604352	?Febrile seizures, familial, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111306	familial febrile seizures 5	skos:exactMatch	MIM:609255	Febrile seizures, familial, 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111307	familial febrile seizures 1	skos:exactMatch	MIM:121210	Febrile seizures, familial, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111308	familial febrile seizures 11	skos:exactMatch	MIM:614418	Febrile seizures, familial, 11	semapv:ManualMappingCuration	2014-09-09
DOID:0111309	familial febrile seizures 6	skos:exactMatch	MIM:609253	Febrile seizures, familial, 6	semapv:ManualMappingCuration	2017-10-03
DOID:0111310	familial febrile seizures 2	skos:exactMatch	MIM:602477	Febrile seizures, familial, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111311	familial febrile seizures 7	skos:exactMatch	MIM:611515	Febrile seizures, familial, 7	semapv:ManualMappingCuration	2017-10-03
DOID:0111312	idiopathic generalized epilepsy 11	skos:exactMatch	MIM:607628	{Epilepsy, juvenile myoclonic, susceptibility to, 8}	semapv:ManualMappingCuration	2017-10-03
DOID:0111313	idiopathic generalized epilepsy 12	skos:exactMatch	MIM:614847	{Epilepsy, idiopathic generalized, susceptibility to, 12}	semapv:ManualMappingCuration	2019-08-31
DOID:0111314	idiopathic generalized epilepsy 13	skos:exactMatch	MIM:611136	{Epilepsy, juvenile myoclonic, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:0111315	idiopathic generalized epilepsy 14	skos:exactMatch	MIM:616685	{Epilepsy, idiopathic generalized, susceptibility to, 14}	semapv:ManualMappingCuration	2017-10-10
DOID:0111316	idiopathic generalized epilepsy 15	skos:exactMatch	MIM:618357	{Epilepsy, idiopathic generalized, susceptibility to, 15}	semapv:ManualMappingCuration	2019-04-09
DOID:0111317	idiopathic generalized epilepsy 2	skos:exactMatch	MIM:606972	{Epilepsy, idiopathic generalized, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:0111318	idiopathic generalized epilepsy 3	skos:exactMatch	MIM:608762	{Epilepsy, idiopathic generalized, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:0111319	idiopathic generalized epilepsy 4	skos:exactMatch	MIM:609750	{Epilepsy, idiopathic generalized, susceptibility to 4}	semapv:ManualMappingCuration	2017-10-03
DOID:0111320	idiopathic generalized epilepsy 5	skos:exactMatch	MIM:611934	{Epilepsy, idiopathic generalized, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:0111321	idiopathic generalized epilepsy 7	skos:exactMatch	MIM:604827	{Epilepsy, idiopathic generalized, susceptibility to, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:0111322	idiopathic generalized epilepsy 8	skos:exactMatch	MIM:612899	{?Epilepsy idiopathic generalized, susceptibility to, 8}	semapv:ManualMappingCuration	2017-10-03
DOID:0111323	idiopathic generalized epilepsy 9	skos:exactMatch	MIM:607682	{Epilepsy, idiopathic generalized, susceptibility to, 9}	semapv:ManualMappingCuration	2017-10-03
DOID:0111324	juvenile absence epilepsy 1	skos:exactMatch	MIM:607631	{Epilepsy, juvenile absence, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:0111325	juvenile myoclonic epilepsy 10	skos:exactMatch	MIM:617924	{Epilepsy, juvenile myoclonic, susceptibility to, 10}	semapv:ManualMappingCuration	2019-09-01
DOID:0111326	juvenile myoclonic epilepsy 3	skos:exactMatch	MIM:608816	Epilepsy, juvenile myoclonic 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111327	juvenile myoclonic epilepsy 4	skos:exactMatch	MIM:611364	Myoclonic epilepsy, juvenile, 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111328	juvenile myoclonic epilepsy 9	skos:exactMatch	MIM:614280	{Epilepsy, juvenile myoclonic, susceptibility to, 9}	semapv:ManualMappingCuration	2018-08-22
DOID:0111329	pyridoxamine 5'-phosphate oxidase deficiency	skos:exactMatch	MIM:610090	Pyridoxamine 5'-phosphate oxidase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111330	combined saposin deficiency	skos:exactMatch	MIM:611721	Combined SAP deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111331	intellectual disability-severe speech delay-mild dysmorphism syndrome	skos:exactMatch	MIM:613670	Intellectual developmental disorder with language impairment with or without autistic features	semapv:ManualMappingCuration	2014-06-23
DOID:0111332	Pitt-Hopkins-like syndrome 2	skos:exactMatch	MIM:614325	Pitt-Hopkins-like syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:0111333	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	skos:exactMatch	MIM:614399	Congenital myopathy 10A, severe variant	semapv:ManualMappingCuration	2014-09-09
DOID:0111334	congenital leptin deficiency	skos:exactMatch	MIM:614962	Obesity, morbid, due to leptin deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:0111335	myopathy with extrapyramidal signs	skos:exactMatch	MIM:615673	Myopathy with extrapyramidal signs	semapv:ManualMappingCuration	2015-07-06
DOID:0111336	craniofacial-deafness-hand syndrome	skos:exactMatch	MIM:122880	Craniofacial-deafness-hand syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111337	Jackson-Weiss syndrome	skos:exactMatch	MIM:123150	Jackson-Weiss syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111338	isolated elevated serum creatine phosphokinase levels	skos:exactMatch	MIM:123320	Creatine phosphokinase, elevated serum	semapv:ManualMappingCuration	2014-06-23
DOID:0111339	Vohwinkel syndrome	skos:exactMatch	MIM:124500	Vohwinkel syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111340	dominant optic atrophy plus syndrome	skos:exactMatch	MIM:125250	Optic atrophy plus syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111341	primary failure of tooth eruption	skos:exactMatch	MIM:125350	Failure of tooth eruption, primary	semapv:ManualMappingCuration	2017-10-03
DOID:0111342	dermatopathia pigmentosa reticularis	skos:exactMatch	MIM:125595	Dermatopathia pigmentosa reticularis	semapv:ManualMappingCuration	2017-10-03
DOID:0111343	lateral meningocele syndrome	skos:exactMatch	MIM:130720	Lateral meningocele syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0111344	myeloproliferative disorder with eosinophilia	skos:exactMatch	MIM:131440	Myeloproliferative disorder with eosinophilia	semapv:ManualMappingCuration	2017-10-03
DOID:0111345	transient bullous dermolysis of the newborn	skos:exactMatch	MIM:131705	Transient bullous of the newborn	semapv:ManualMappingCuration	2017-10-03
DOID:0111346	epidermolysis bullosa simplex with mottled pigmentation	skos:exactMatch	MIM:131960	Epidermolysis bullosa simplex 2F, with mottled pigmentation	semapv:ManualMappingCuration	2017-10-03
DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails	skos:exactMatch	MIM:132000	Epidermolysis bullosa dystrophica, Bart type	semapv:ManualMappingCuration	2017-10-03
DOID:0111348	multiple epiphyseal dysplasia with myopia and deafness	skos:exactMatch	MIM:132450	?Epiphyseal dysplasia, multiple, with myopia and deafness	semapv:ManualMappingCuration	2017-10-03
DOID:0111349	hereditary desmoid disease	skos:exactMatch	MIM:135290	Desmoid disease, hereditary	semapv:ManualMappingCuration	2017-10-03
DOID:0111350	Laurin-Sandrow syndrome	skos:exactMatch	MIM:135750	Laurin-Sandrow syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111351	D-2-hydroxyglutaric aciduria 1	skos:exactMatch	MIM:600721	D-2-hydroxyglutaric aciduria	semapv:ManualMappingCuration	2017-10-03
DOID:0111352	D-2-hydroxyglutaric aciduria 2	skos:exactMatch	MIM:613657	D-2-hydroxyglutaric aciduria 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111353	arthrogryposis, renal dysfunction, and cholestasis 1	skos:exactMatch	MIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111354	arthrogryposis, renal dysfunction, and cholestasis 2	skos:exactMatch	MIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111355	hydrolethalus syndrome 1	skos:exactMatch	MIM:236680	Hydrolethalus syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111356	hydrolethalus syndrome 2	skos:exactMatch	MIM:614120	?Hydrolethalus syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:0111357	adermatoglyphia	skos:exactMatch	MIM:136000	Adermatoglyphia	semapv:ManualMappingCuration	2014-10-20
DOID:0111358	Floating-Harbor syndrome	skos:exactMatch	MIM:136140	Floating-Harbor syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111359	large congenital melanocytic nevus	skos:exactMatch	MIM:137550	Melanocytic nevus syndrome, congenital, somatic	semapv:ManualMappingCuration	2014-10-20
DOID:0111360	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	skos:exactMatch	MIM:137940	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0111361	hypotrichosis-lymphedema-telangiectasia syndrome	skos:exactMatch	MIM:607823	Hypotrichosis-lymphedema-telangiectasia syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111362	hawkinsinuria	skos:exactMatch	MIM:140350	Hawkinsinuria	semapv:ManualMappingCuration	2017-10-03
DOID:0111363	Heinz body anemia	skos:exactMatch	MIM:140700	Heinz body anemia	semapv:ManualMappingCuration	2017-10-03
DOID:0111364	Alzheimer's disease 9	skos:exactMatch	MIM:608907	{Alzheimer disease 9, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0111365	benign familial hematuria	skos:exactMatch	MIM:PS141200	Hematuria, familial benign, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111366	familial hepatic adenoma	skos:exactMatch	MIM:142330	Hepatic adenoma, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:0111367	Beukes hip dysplasia	skos:exactMatch	MIM:142669	?Hip dysplasia, Beukes type	semapv:ManualMappingCuration	2017-10-03
DOID:0111369	hyperalphalipoproteinemia 1	skos:exactMatch	MIM:143470	[High density lipoprotein cholesterol level QTL 10]	semapv:ManualMappingCuration	2014-06-23
DOID:0111370	apolipoprotein C-III deficiency	skos:exactMatch	MIM:614028	Apolipoprotein C-III deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:0111371	isolated hyperchlorhidrosis	skos:exactMatch	MIM:143860	Hyperchlorhidrosis, isolated	semapv:ManualMappingCuration	2014-06-23
DOID:0111373	familial progressive hyperpigmentation with or without hypopigmentation	skos:exactMatch	MIM:145250	Hyperpigmentation with or without hypopigmentation	semapv:ManualMappingCuration	2014-06-23
DOID:0111374	selective pituitary thyroid hormone resistance	skos:exactMatch	MIM:145650	Thyroid hormone resistance, selective pituitary	semapv:ManualMappingCuration	2017-10-03
DOID:0111375	fetal akinesia deformation sequence syndrome	skos:exactMatch	MIM:PS208150	Fetal akinesia deformation sequence 1	semapv:ManualMappingCuration	2019-05-01
DOID:0111376	fetal akinesia deformation sequence syndrome 3	skos:exactMatch	MIM:618389	Fetal akinesia deformation sequence 3	semapv:ManualMappingCuration	2019-05-01
DOID:0111377	fetal akinesia deformation sequence syndrome 1	skos:exactMatch	MIM:208150	Fetal akinesia deformation sequence 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111378	fetal akinesia deformation sequence syndrome 2	skos:exactMatch	MIM:618388	Fetal akinesia deformation sequence 2	semapv:ManualMappingCuration	2019-05-01
DOID:0111379	fetal akinesia deformation sequence syndrome 4	skos:exactMatch	MIM:618393	Fetal akinesia deformation sequence 4	semapv:ManualMappingCuration	2019-05-01
DOID:0111380	solitary median maxillary central incisor	skos:exactMatch	MIM:147250	Single median maxillary central incisor	semapv:ManualMappingCuration	2017-10-03
DOID:0111381	IVIC syndrome	skos:exactMatch	MIM:147750	?IVIC syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111382	ischiocoxopodopatellar syndrome	skos:exactMatch	MIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	semapv:ManualMappingCuration	2017-10-03
DOID:0111383	autosomal dominant keratitis	skos:exactMatch	MIM:148190	Keratitis	semapv:ManualMappingCuration	2017-10-03
DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2	skos:exactMatch	MIM:615422	?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	semapv:ManualMappingCuration	2015-07-01
DOID:0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1	skos:exactMatch	MIM:167320	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111386	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3	skos:exactMatch	MIM:615424	?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3	semapv:ManualMappingCuration	2015-07-01
DOID:0111387	familial isolated hypoparathyroidism	skos:exactMatch	MIM:PS146200	Hypoparathyroidism, familial isolated 1	semapv:ManualMappingCuration	2020-05-15
DOID:0111388	X-linked hypoparathyroidism	skos:exactMatch	MIM:307700	Hypoparathyroidism, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0111389	mucopolysaccharidosis Ih/s	skos:exactMatch	MIM:607015	Mucopolysaccharidosis Ih/s	semapv:ManualMappingCuration	2017-10-03
DOID:0111390	mucopolysaccharidosis Ih	skos:exactMatch	MIM:607014	Mucopolysaccharidosis Ih	semapv:ManualMappingCuration	2017-10-03
DOID:0111391	mucopolysaccharidosis IVA	skos:exactMatch	MIM:253000	Mucopolysaccharidosis IVA	semapv:ManualMappingCuration	2017-10-03
DOID:0111392	mucopolysaccharidosis type IVB	skos:exactMatch	MIM:253010	Mucopolysaccharidosis type IVB (Morquio)	semapv:ManualMappingCuration	2017-10-03
DOID:0111393	mucopolysaccharidosis type IIIC	skos:exactMatch	MIM:252930	Mucopolysaccharidosis type IIIC (Sanfilippo C)	semapv:ManualMappingCuration	2017-10-03
DOID:0111394	mucopolysaccharidosis type IIIB	skos:exactMatch	MIM:252920	Mucopolysaccharidosis type IIIB (Sanfilippo B)	semapv:ManualMappingCuration	2017-10-03
DOID:0111395	mucopolysaccharidosis type IIIA	skos:exactMatch	MIM:252900	Mucopolysaccharidosis type IIIA (Sanfilippo A)	semapv:ManualMappingCuration	2017-10-03
DOID:0111397	congenital dyserythropoietic anemia type Ib	skos:exactMatch	MIM:615631	Dyserythropoietic anemia, congenital, type Ib	semapv:ManualMappingCuration	2014-10-20
DOID:0111398	congenital dyserythropoietic anemia type Ia	skos:exactMatch	MIM:224120	Dyserythropoietic anemia, congenital, type Ia	semapv:ManualMappingCuration	2017-10-03
DOID:0111399	congenital dyserythropoietic anemia type III	skos:exactMatch	MIM:105600	Anemia, congenital dyserythropoietic, type IIIA	semapv:ManualMappingCuration	2017-10-03
DOID:0111400	congenital dyserythropoietic anemia type IV	skos:exactMatch	MIM:613673	Anemia, dyserythropoietic congenital, type IVa	semapv:ManualMappingCuration	2017-10-03
DOID:0111400	congenital dyserythropoietic anemia type IV	skos:exactMatch	MIM:620969	Anemia, congenital dyserythropoietic, type IVb	semapv:ManualMappingCuration	2024-10-11
DOID:0111401	congenital dyserythropoietic anemia type II	skos:exactMatch	MIM:224100	Dyserythropoietic anemia, congenital, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0111402	mucopolysaccharidosis type IIID	skos:exactMatch	MIM:252940	Mucopolysaccharidosis type IIID	semapv:ManualMappingCuration	2017-10-03
DOID:0111403	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	skos:exactMatch	MIM:618273	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	semapv:ManualMappingCuration	2019-04-16
DOID:0111404	Jalili syndrome	skos:exactMatch	MIM:217080	Jalili syndrome	semapv:ManualMappingCuration	2018-10-02
DOID:0111405	Fraser syndrome 1	skos:exactMatch	MIM:219000	Fraser syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111406	Fraser syndrome 3	skos:exactMatch	MIM:617667	Fraser syndrome 3	semapv:ManualMappingCuration	2018-10-11
DOID:0111407	Fraser syndrome 2	skos:exactMatch	MIM:617666	Fraser syndrome 2	semapv:ManualMappingCuration	2018-05-22
DOID:0111408	exudative vitreoretinopathy 5	skos:exactMatch	MIM:613310	Exudative vitreoretinopathy 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111409	exudative vitreoretinopathy 3	skos:exactMatch	MIM:605750	Exudative vitreoretinopathy 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111410	exudative vitreoretinopathy 6	skos:exactMatch	MIM:616468	?Exudative vitreoretinopathy 6	semapv:ManualMappingCuration	2017-03-27
DOID:0111411	exudative vitreoretinopathy 4	skos:exactMatch	MIM:601813	Exudative vitreoretinopathy 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111412	exudative vitreoretinopathy 1	skos:exactMatch	MIM:133780	Retinopathy of prematurity	semapv:ManualMappingCuration	2017-10-03
DOID:0111413	X-linked exudative vitreoretinopathy 2	skos:exactMatch	MIM:305390	Exudative vitreoretinopathy 2, X-linked	semapv:ManualMappingCuration	2014-06-23
DOID:0111414	trichohepatoenteric syndrome	skos:exactMatch	MIM:PS222470	Trichohepatoenteric syndrome 1	semapv:ManualMappingCuration	2019-03-21
DOID:0111415	trichohepatoenteric syndrome 1	skos:exactMatch	MIM:222470	Trichohepatoenteric syndrome 1	semapv:ManualMappingCuration	2014-10-20
DOID:0111416	trichohepatoenteric syndrome 2	skos:exactMatch	MIM:614602	Trichohepatoenteric syndrome 2	semapv:ManualMappingCuration	2014-09-02
DOID:0111418	familial apolipoprotein C-II deficiency	skos:exactMatch	MIM:207750	Hyperlipoproteinemia, type Ib	semapv:ManualMappingCuration	2017-10-03
DOID:0111419	familial chylomicronemia due to inhibition of lipoprotein lipase activity	skos:exactMatch	MIM:118830	CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN LIPASE	semapv:ManualMappingCuration	2019-10-31
DOID:0111420	familial GPIHBP1 deficiency	skos:exactMatch	MIM:615947	Hyperlipoproteinemia, type 1D	semapv:ManualMappingCuration	2017-04-27
DOID:0111421	familial apolipoprotein A5 deficiency	skos:exactMatch	MIM:144650	Hyperchylomicronemia, late-onset	semapv:ManualMappingCuration	2019-10-31
DOID:0111422	familial lipase maturation factor 1 deficiency	skos:exactMatch	MIM:246650	Lipase deficiency, combined	semapv:ManualMappingCuration	2017-10-03
DOID:0111423	branchiootorenal syndrome 1	skos:exactMatch	MIM:113650	Branchiootorenal syndrome 1, with or without cataracts	semapv:ManualMappingCuration	2017-10-03
DOID:0111424	branchiootorenal syndrome 2	skos:exactMatch	MIM:610896	Branchiootorenal syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111425	restrictive cardiomyopathy 1	skos:exactMatch	MIM:115210	Cardiomyopathy, familial restrictive, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111426	restrictive cardiomyopathy 2	skos:exactMatch	MIM:609578	Cardiomyopathy, familial restrictive, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111427	restrictive cardiomyopathy 3	skos:exactMatch	MIM:612422	Cardiomyopathy, familial restrictive, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111428	essential tremor 1	skos:exactMatch	MIM:190300	{Essential tremor, hereditary, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:0111429	essential tremor 2	skos:exactMatch	MIM:602134	Essential tremor, hereditary, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111430	essential tremor 3	skos:exactMatch	MIM:611456	Essential tremor, hereditary, 3	semapv:ManualMappingCuration	2018-08-22
DOID:0111431	essential tremor 4	skos:exactMatch	MIM:614782	Essential tremor, hereditary, 4	semapv:ManualMappingCuration	2014-09-02
DOID:0111432	essential tremor 5	skos:exactMatch	MIM:616736	Essential tremor, hereditary, 5	semapv:ManualMappingCuration	2016-02-11
DOID:0111433	optic atrophy 3	skos:exactMatch	MIM:165300	Optic atrophy 3 with cataract	semapv:ManualMappingCuration	2017-10-03
DOID:0111434	optic atrophy 10	skos:exactMatch	MIM:616732	Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures	semapv:ManualMappingCuration	2016-02-10
DOID:0111435	optic atrophy 6	skos:exactMatch	MIM:258500	Optic atrophy 6	semapv:ManualMappingCuration	2017-10-03
DOID:0111436	optic atrophy 11	skos:exactMatch	MIM:617302	?Optic atrophy 11	semapv:ManualMappingCuration	2017-03-29
DOID:0111437	optic atrophy 7	skos:exactMatch	MIM:612989	Optic atrophy 7	semapv:ManualMappingCuration	2017-10-03
DOID:0111438	optic atrophy 5	skos:exactMatch	MIM:610708	Optic atrophy 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111439	optic atrophy 8	skos:exactMatch	MIM:616648	Optic atrophy 8	semapv:ManualMappingCuration	2015-06-18
DOID:0111440	optic atrophy 4	skos:exactMatch	MIM:605293	Optic atrophy 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111441	optic atrophy 1	skos:exactMatch	MIM:165500	Optic atrophy 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111442	optic atrophy 9	skos:exactMatch	MIM:616289	Optic atrophy 9	semapv:ManualMappingCuration	2015-12-08
DOID:0111443	optic atrophy 2	skos:exactMatch	MIM:311050	Optic atrophy 2, X-linked	semapv:ManualMappingCuration	2014-06-23
DOID:0111444	progressive myoclonus epilepsy 4	skos:exactMatch	MIM:254900	Epilepsy, progressive myoclonic 4, with or without renal failure	semapv:ManualMappingCuration	2014-06-23
DOID:0111445	progressive myoclonus epilepsy 10	skos:exactMatch	MIM:616640	?Epilepsy, progressive myoclonic, 10	semapv:ManualMappingCuration	2015-12-08
DOID:0111446	progressive myoclonus epilepsy 3	skos:exactMatch	MIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	semapv:ManualMappingCuration	2014-06-23
DOID:0111447	progressive myoclonus epilepsy 7	skos:exactMatch	MIM:616187	Epilepsy, progressive myoclonic 7	semapv:ManualMappingCuration	2017-03-09
DOID:0111448	progressive myoclonus epilepsy 1B	skos:exactMatch	MIM:612437	Epilepsy, progressive myoclonic 1B	semapv:ManualMappingCuration	2017-10-03
DOID:0111449	progressive myoclonus epilepsy 6	skos:exactMatch	MIM:614018	Epilepsy, progressive myoclonic 6	semapv:ManualMappingCuration	2014-09-09
DOID:0111450	progressive myoclonus epilepsy 9	skos:exactMatch	MIM:616540	?Epilepsy, progressive myoclonic, 9	semapv:ManualMappingCuration	2017-03-09
DOID:0111451	progressive myoclonus epilepsy 8	skos:exactMatch	MIM:616230	Epilepsy, progressive myoclonic, 8	semapv:ManualMappingCuration	2015-04-08
DOID:0111452	progressive myoclonus epilepsy 1A	skos:exactMatch	MIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	semapv:ManualMappingCuration	2019-10-31
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria	skos:exactMatch	MIM:204750	Alpha-aminoadipic and alpha-ketoadipic aciduria	semapv:ManualMappingCuration	2014-09-02
DOID:0111454	SHORT syndrome	skos:exactMatch	MIM:269880	SHORT syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111455	GRACILE syndrome	skos:exactMatch	MIM:603358	GRACILE syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111456	Kaufman oculocerebrofacial syndrome	skos:exactMatch	MIM:244450	Kaufman oculocerebrofacial syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0111457	STING-associated vasculopathy with onset in infancy	skos:exactMatch	MIM:615934	STING-associated vasculopathy, infantile-onset	semapv:ManualMappingCuration	2017-04-19
DOID:0111458	galactose epimerase deficiency	skos:exactMatch	MIM:230350	Galactose epimerase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111459	classic galactosemia	skos:exactMatch	MIM:230400	Galactosemia	semapv:ManualMappingCuration	2017-10-03
DOID:0111460	cardiofaciocutaneous syndrome 1	skos:exactMatch	MIM:115150	Cardiofaciocutaneous syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111461	cardiofaciocutaneous syndrome 2	skos:exactMatch	MIM:615278	Cardiofaciocutaneous syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:0111462	cardiofaciocutaneous syndrome 3	skos:exactMatch	MIM:615279	Cardiofaciocutaneous syndrome 3	semapv:ManualMappingCuration	2017-02-24
DOID:0111463	cardiofaciocutaneous syndrome 4	skos:exactMatch	MIM:615280	Cardiofaciocutaneous syndrome 4	semapv:ManualMappingCuration	2015-06-30
DOID:0111464	combined oxidative phosphorylation deficiency 35	skos:exactMatch	MIM:617873	Combined oxidative phosphorylation deficiency 35	semapv:ManualMappingCuration	2018-03-12
DOID:0111465	combined oxidative phosphorylation deficiency 21	skos:exactMatch	MIM:615918	Combined oxidative phosphorylation deficiency 21	semapv:ManualMappingCuration	2017-02-28
DOID:0111466	combined oxidative phosphorylation deficiency 38	skos:exactMatch	MIM:618378	?Combined oxidative phosphorylation deficiency 38	semapv:ManualMappingCuration	2019-09-09
DOID:0111467	combined oxidative phosphorylation deficiency 13	skos:exactMatch	MIM:614932	Combined oxidative phosphorylation deficiency 13	semapv:ManualMappingCuration	2014-09-02
DOID:0111468	combined oxidative phosphorylation deficiency 25	skos:exactMatch	MIM:616430	?Combined oxidative phosphorylation deficiency 25	semapv:ManualMappingCuration	2017-02-28
DOID:0111469	combined oxidative phosphorylation deficiency 16	skos:exactMatch	MIM:615395	Combined oxidative phosphorylation deficiency 16	semapv:ManualMappingCuration	2014-09-09
DOID:0111470	combined oxidative phosphorylation deficiency 28	skos:exactMatch	MIM:616794	Combined oxidative phosphorylation deficiency 28	semapv:ManualMappingCuration	2016-03-10
DOID:0111471	combined oxidative phosphorylation deficiency 30	skos:exactMatch	MIM:616974	Combined oxidative phosphorylation deficiency 30	semapv:ManualMappingCuration	2017-10-10
DOID:0111472	combined oxidative phosphorylation deficiency 9	skos:exactMatch	MIM:614582	Combined oxidative phosphorylation deficiency 9	semapv:ManualMappingCuration	2014-09-02
DOID:0111473	combined oxidative phosphorylation deficiency 5	skos:exactMatch	MIM:611719	Combined oxidative phosphorylation deficiency 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111474	combined oxidative phosphorylation deficiency 1	skos:exactMatch	MIM:609060	Combined oxidative phosphorylation deficiency 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111475	combined oxidative phosphorylation deficiency 39	skos:exactMatch	MIM:618397	Combined oxidative phosphorylation deficiency 39	semapv:ManualMappingCuration	2019-04-23
DOID:0111476	combined oxidative phosphorylation deficiency 19	skos:exactMatch	MIM:615595	?Combined oxidative phosphorylation deficiency 19	semapv:ManualMappingCuration	2014-09-09
DOID:0111477	combined oxidative phosphorylation deficiency 14	skos:exactMatch	MIM:614946	Combined oxidative phosphorylation deficiency 14	semapv:ManualMappingCuration	2014-09-02
DOID:0111478	combined oxidative phosphorylation deficiency 20	skos:exactMatch	MIM:615917	Combined oxidative phosphorylation deficiency 20	semapv:ManualMappingCuration	2017-02-28
DOID:0111479	combined oxidative phosphorylation deficiency 8	skos:exactMatch	MIM:614096	Combined oxidative phosphorylation deficiency 8	semapv:ManualMappingCuration	2014-09-02
DOID:0111480	combined oxidative phosphorylation deficiency 10	skos:exactMatch	MIM:614702	Combined oxidative phosphorylation deficiency 10	semapv:ManualMappingCuration	2014-09-02
DOID:0111481	combined oxidative phosphorylation deficiency 11	skos:exactMatch	MIM:614922	Combined oxidative phosphorylation deficiency 11	semapv:ManualMappingCuration	2014-09-02
DOID:0111482	combined oxidative phosphorylation deficiency 36	skos:exactMatch	MIM:617950	Combined oxidative phosphorylation deficiency 36	semapv:ManualMappingCuration	2017-12-01
DOID:0111483	combined oxidative phosphorylation deficiency 2	skos:exactMatch	MIM:610498	Combined oxidative phosphorylation deficiency 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111484	combined oxidative phosphorylation deficiency 18	skos:exactMatch	MIM:615578	Combined oxidative phosphorylation deficiency 18	semapv:ManualMappingCuration	2014-09-09
DOID:0111485	combined oxidative phosphorylation deficiency 24	skos:exactMatch	MIM:616239	Combined oxidative phosphorylation deficiency 24	semapv:ManualMappingCuration	2017-02-28
DOID:0111486	combined oxidative phosphorylation deficiency 3	skos:exactMatch	MIM:610505	Combined oxidative phosphorylation deficiency 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111487	combined oxidative phosphorylation deficiency 7	skos:exactMatch	MIM:613559	Combined oxidative phosphorylation deficiency 7	semapv:ManualMappingCuration	2014-06-23
DOID:0111488	combined oxidative phosphorylation deficiency 31	skos:exactMatch	MIM:617228	Combined oxidative phosphorylation deficiency 31	semapv:ManualMappingCuration	2017-02-28
DOID:0111489	combined oxidative phosphorylation deficiency 27	skos:exactMatch	MIM:616672	Combined oxidative phosphorylation deficiency 27	semapv:ManualMappingCuration	2016-01-13
DOID:0111490	combined oxidative phosphorylation deficiency 26	skos:exactMatch	MIM:616539	Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay	semapv:ManualMappingCuration	2017-02-28
DOID:0111491	combined oxidative phosphorylation deficiency 15	skos:exactMatch	MIM:614947	Combined oxidative phosphorylation deficiency 15	semapv:ManualMappingCuration	2014-09-02
DOID:0111492	combined oxidative phosphorylation deficiency 32	skos:exactMatch	MIM:617664	Combined oxidative phosphorylation deficiency 32	semapv:ManualMappingCuration	2017-11-30
DOID:0111493	combined oxidative phosphorylation deficiency 12	skos:exactMatch	MIM:614924	Combined oxidative phosphorylation deficiency 12	semapv:ManualMappingCuration	2014-09-02
DOID:0111494	combined oxidative phosphorylation deficiency 4	skos:exactMatch	MIM:610678	Combined oxidative phosphorylation deficiency 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111495	combined oxidative phosphorylation deficiency 33	skos:exactMatch	MIM:617713	Combined oxidative phosphorylation deficiency 33	semapv:ManualMappingCuration	2017-11-30
DOID:0111496	combined oxidative phosphorylation deficiency 17	skos:exactMatch	MIM:615440	Combined oxidative phosphorylation deficiency 17	semapv:ManualMappingCuration	2014-09-09
DOID:0111497	combined oxidative phosphorylation deficiency 34	skos:exactMatch	MIM:617872	?Combined oxidative phosphorylation deficiency 34	semapv:ManualMappingCuration	2018-03-12
DOID:0111498	combined oxidative phosphorylation deficiency 22	skos:exactMatch	MIM:616045	?Combined oxidative phosphorylation deficiency 22	semapv:ManualMappingCuration	2017-02-28
DOID:0111499	combined oxidative phosphorylation deficiency 37	skos:exactMatch	MIM:618329	Combined oxidative phosphorylation deficiency 37	semapv:ManualMappingCuration	2019-02-25
DOID:0111500	combined oxidative phosphorylation deficiency 23	skos:exactMatch	MIM:616198	Combined oxidative phosphorylation deficiency 23	semapv:ManualMappingCuration	2017-02-28
DOID:0111501	combined oxidative phosphorylation deficiency 29	skos:exactMatch	MIM:616811	?Combined oxidative phosphorylation deficiency 29	semapv:ManualMappingCuration	2016-05-13
DOID:0111502	combined oxidative phosphorylation deficiency 6	skos:exactMatch	MIM:300816	Combined oxidative phosphorylation deficiency 6	semapv:ManualMappingCuration	2014-06-23
DOID:0111503	Li-Fraumeni syndrome 1	skos:exactMatch	MIM:151623	Li-Fraumeni syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111504	Li-Fraumeni syndrome 2	skos:exactMatch	MIM:609265	Tumor predisposition syndrome 4, breast/prostate/colorectal	semapv:ManualMappingCuration	2017-10-03
DOID:0111505	palmoplantar keratoderma-deafness syndrome	skos:exactMatch	MIM:148350	Keratoderma, palmoplantar, with deafness	semapv:ManualMappingCuration	2017-10-03
DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome	skos:exactMatch	MIM:148500	Tylosis with esophageal cancer	semapv:ManualMappingCuration	2017-10-03
DOID:0111507	Lenz-Majewski hyperostotic dwarfism	skos:exactMatch	MIM:151050	Lenz-Majewski hyperostotic dwarfism	semapv:ManualMappingCuration	2014-10-20
DOID:0111508	Torrance type platyspondylic dysplasia	skos:exactMatch	MIM:151210	Platyspondylic skeletal dysplasia, Torrance type	semapv:ManualMappingCuration	2017-10-03
DOID:0111509	lymphedema-distichiasis syndrome	skos:exactMatch	MIM:153400	Lymphedema-distichiasis syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111510	Marshall syndrome	skos:exactMatch	MIM:154780	Marshall syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111511	melanoma and neural system tumor syndrome	skos:exactMatch	MIM:155755	{Melanoma and neural system tumor syndrome}	semapv:ManualMappingCuration	2017-10-03
DOID:0111512	metachondromatosis	skos:exactMatch	MIM:156250	Metachondromatosis	semapv:ManualMappingCuration	2017-10-03
DOID:0111513	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome	skos:exactMatch	MIM:156510	Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	semapv:ManualMappingCuration	2014-09-09
DOID:0111514	metatropic dysplasia	skos:exactMatch	MIM:156530	Metatropic dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0111515	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2	skos:exactMatch	MIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	semapv:ManualMappingCuration	2017-04-03
DOID:0111516	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4	skos:exactMatch	MIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	semapv:ManualMappingCuration	2016-09-12
DOID:0111517	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	skos:exactMatch	MIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111518	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	skos:exactMatch	MIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111519	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6	skos:exactMatch	MIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	semapv:ManualMappingCuration	2014-09-09
DOID:0111520	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	skos:exactMatch	MIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111521	autosomal dominant progressive external ophthalmoplegia 1	skos:exactMatch	MIM:157640	Progressive external ophthalmoplegia, autosomal dominant 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111522	autosomal recessive progressive external ophthalmoplegia 1	skos:exactMatch	MIM:258450	Progressive external ophthalmoplegia, autosomal recessive 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111523	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3	skos:exactMatch	MIM:617069	?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	semapv:ManualMappingCuration	2017-10-10
DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5	skos:exactMatch	MIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	semapv:ManualMappingCuration	2019-08-16
DOID:0111525	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	skos:exactMatch	MIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111526	Mullerian aplasia and hyperandrogenism	skos:exactMatch	MIM:158330	Mullerian aplasia and hyperandrogenism	semapv:ManualMappingCuration	2017-10-03
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy	skos:exactMatch	MIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	semapv:ManualMappingCuration	2014-10-20
DOID:0111528	Naegeli-Franceschetti-Jadassohn syndrome	skos:exactMatch	MIM:161000	Naegeli-Franceschetti-Jadassohn syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111529	familial multiple nevi flammei	skos:exactMatch	MIM:163000	Capillary malformations, congenital, 1, somatic, mosaic	semapv:ManualMappingCuration	2014-06-23
DOID:0111530	linear nevus sebaceous syndrome	skos:exactMatch	MIM:163200	Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	semapv:ManualMappingCuration	2014-10-20
DOID:0111531	bilateral optic nerve hypoplasia	skos:exactMatch	MIM:165550	Optic nerve hypoplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0111532	osteoglophonic dysplasia	skos:exactMatch	MIM:166250	Osteoglophonic dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:0111533	gnathodiaphyseal dysplasia	skos:exactMatch	MIM:166260	Gnathodiaphyseal dysplasia	semapv:ManualMappingCuration	2014-06-23
DOID:0111534	multicentric carpotarsal osteolysis syndrome	skos:exactMatch	MIM:166300	Multicentric carpotarsal osteolysis syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111535	progressive osseous heteroplasia	skos:exactMatch	MIM:166350	Osseous heteroplasia, progressive	semapv:ManualMappingCuration	2017-10-03
DOID:0111536	Buschke-Ollendorff syndrome	skos:exactMatch	MIM:166700	Buschke-Ollendorff syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111537	paroxysmal extreme pain disorder	skos:exactMatch	MIM:167400	Paroxysmal extreme pain disorder	semapv:ManualMappingCuration	2017-10-03
DOID:0111538	paramyotonia congenita of Von Eulenburg	skos:exactMatch	MIM:168300	Paramyotonia congenita	semapv:ManualMappingCuration	2018-04-24
DOID:0111539	parastremmatic dwarfism	skos:exactMatch	MIM:168400	Parastremmatic dwarfism	semapv:ManualMappingCuration	2017-10-03
DOID:0111540	prolidase deficiency	skos:exactMatch	MIM:170100	Prolidase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111541	pigmented paravenous chorioretinal atrophy	skos:exactMatch	MIM:172870	Pigmented paravenous chorioretinal atrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0111542	familial expansile osteolysis	skos:exactMatch	MIM:174810	Osteolysis, familial expansile	semapv:ManualMappingCuration	2017-10-03
DOID:0111543	juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome	skos:exactMatch	MIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111544	Guttmacher syndrome	skos:exactMatch	MIM:176305	?Guttmacher syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111545	familial male-limited precocious puberty	skos:exactMatch	MIM:176410	Precocious puberty, male	semapv:ManualMappingCuration	2017-10-03
DOID:0111546	Currarino syndrome	skos:exactMatch	MIM:176450	Currarino syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111547	retinal arterial tortuosity	skos:exactMatch	MIM:180000	?Retinal arteries, tortuosity of	semapv:ManualMappingCuration	2016-05-31
DOID:0111548	ring dermoid of cornea	skos:exactMatch	MIM:180550	Ring dermoid of cornea	semapv:ManualMappingCuration	2017-10-03
DOID:0111549	aplasia of lacrimal and salivary glands	skos:exactMatch	MIM:180920	Aplasia of lacrimal and salivary glands	semapv:ManualMappingCuration	2017-10-03
DOID:0111550	scalp-ear-nipple syndrome	skos:exactMatch	MIM:181270	Scalp-ear-nipple syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111551	neurogenic scapuloperoneal syndrome Kaeser type	skos:exactMatch	MIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type	semapv:ManualMappingCuration	2017-10-03
DOID:0111552	scapuloperoneal spinal muscular atrophy	skos:exactMatch	MIM:181405	Scapuloperoneal spinal muscular atrophy	semapv:ManualMappingCuration	2014-06-23
DOID:0111552	scapuloperoneal spinal muscular atrophy	skos:exactMatch	MIM:271220	SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL	semapv:ManualMappingCuration	2022-11-15
DOID:0111553	spondyloepiphyseal dysplasia Maroteaux type	skos:exactMatch	MIM:184095	SED, Maroteaux type	semapv:ManualMappingCuration	2014-06-23
DOID:0111554	spondylometaphyseal dysplasia Kozlowski type	skos:exactMatch	MIM:184252	Spondylometaphyseal dysplasia, Kozlowski type	semapv:ManualMappingCuration	2017-10-03
DOID:0111555	Alkuraya-Kucinskas syndrome	skos:exactMatch	MIM:617822	Alkuraya-Kucinskas syndrome	semapv:ManualMappingCuration	2018-02-07
DOID:0111556	steatocystoma multiplex	skos:exactMatch	MIM:184500	Steatocystoma multiplex	semapv:ManualMappingCuration	2017-10-03
DOID:0111557	Charcot-Marie-Tooth disease type 2A2B	skos:exactMatch	MIM:617087	Charcot-Marie-Tooth disease, axonal, type 2A2B	semapv:ManualMappingCuration	2016-10-11
DOID:0111558	Charcot-Marie-Tooth disease type 2DD	skos:exactMatch	MIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	semapv:ManualMappingCuration	2018-07-10
DOID:0111559	Charcot-Marie-Tooth disease type 2EE	skos:exactMatch	MIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	semapv:ManualMappingCuration	2019-04-30
DOID:0111560	Charcot-Marie-Tooth disease type 1G	skos:exactMatch	MIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G	semapv:ManualMappingCuration	2019-02-12
DOID:0111561	stiff skin syndrome	skos:exactMatch	MIM:184900	Stiff skin syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111562	overhydrated hereditary stomatocytosis	skos:exactMatch	MIM:185000	Overhydrated hereditary stomatocytosis	semapv:ManualMappingCuration	2014-10-20
DOID:0111563	Sturge-Weber syndrome	skos:exactMatch	MIM:185300	Sturge-Weber syndrome, somatic, mosaic	semapv:ManualMappingCuration	2014-10-20
DOID:0111564	hypoplastic or aplastic tibia with polydactyly	skos:exactMatch	MIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly	semapv:ManualMappingCuration	2017-03-30
DOID:0111565	trichodontoosseous syndrome	skos:exactMatch	MIM:190320	Trichodontoosseous syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0111566	familial isolated trichomegaly	skos:exactMatch	MIM:190330	Trichomegaly	semapv:ManualMappingCuration	2017-04-19
DOID:0111567	retinal vasculopathy with cerebral leukodystrophy	skos:exactMatch	MIM:192315	Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations	semapv:ManualMappingCuration	2017-10-03
DOID:0111568	congenital vertical talus	skos:exactMatch	MIM:192950	Vertical talus, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:0111569	autosomal dominant vitreoretinochoroidopathy	skos:exactMatch	MIM:193220	?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111570	snowflake vitreoretinal degeneration	skos:exactMatch	MIM:193230	Snowflake vitreoretinal degeneration	semapv:ManualMappingCuration	2017-10-03
DOID:0111571	Weyers acrofacial dysostosis	skos:exactMatch	MIM:193530	?Weyers acrofacial dysostosis	semapv:ManualMappingCuration	2017-10-03
DOID:0111573	autosomal dominant woolly hair	skos:exactMatch	MIM:194300	Woolly hair, autosomal dominant	semapv:ManualMappingCuration	2014-06-23
DOID:0111574	autosomal recessive woolly hair 3	skos:exactMatch	MIM:616760	Woolly hair, autosomal recessive 3	semapv:ManualMappingCuration	2016-08-09
DOID:0111576	dehydrated hereditary stomatocytosis 1	skos:exactMatch	MIM:194380	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	semapv:ManualMappingCuration	2017-10-03
DOID:0111577	dehydrated hereditary stomatocytosis 2	skos:exactMatch	MIM:616689	Dehydrated hereditary stomatocytosis 2	semapv:ManualMappingCuration	2017-03-03
DOID:0111578	Gillespie syndrome	skos:exactMatch	MIM:206700	Gillespie syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111579	asthma, nasal polyps, and aspirin intolerance	skos:exactMatch	MIM:208550	{Asthma, aspirin-induced, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0111580	Behr syndrome	skos:exactMatch	MIM:210000	Behr syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0111581	C syndrome	skos:exactMatch	MIM:211750	C syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0111582	hereditary arterial and articular multiple calcification syndrome	skos:exactMatch	MIM:211800	Calcification of joints and arteries	semapv:ManualMappingCuration	2017-10-03
DOID:0111583	carboxypeptidase N deficiency	skos:exactMatch	MIM:212070	Carboxypeptidase N deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111584	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	skos:exactMatch	MIM:212112	Malouf syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111585	carnitine-acylcarnitine translocase deficiency	skos:exactMatch	MIM:212138	Carnitine-acylcarnitine translocase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111586	Martsolf syndrome 1	skos:exactMatch	MIM:212720	Martsolf syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111587	Gordon Holmes syndrome	skos:exactMatch	MIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism	semapv:ManualMappingCuration	2014-10-20
DOID:0111588	Greenberg dysplasia	skos:exactMatch	MIM:215140	Greenberg skeletal dysplasia	semapv:ManualMappingCuration	2014-06-23
DOID:0111590	Cohen syndrome	skos:exactMatch	MIM:216550	Cohen syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111591	congenital heart defects, hamartomas of tongue, and polysyndactyly	skos:exactMatch	MIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly	semapv:ManualMappingCuration	2017-10-10
DOID:0111592	plasminogen deficiency type I	skos:exactMatch	MIM:217090	Dysplasminogenemia	semapv:ManualMappingCuration	2017-10-03
DOID:0111593	distal arthrogryposis type 10	skos:exactMatch	MIM:187370	Arthrogryposis, distal, type 10	semapv:ManualMappingCuration	2018-08-23
DOID:0111594	distal arthrogryposis type 5D	skos:exactMatch	MIM:615065	Arthrogryposis, distal, type 5D	semapv:ManualMappingCuration	2014-09-02
DOID:0111595	congenital contractural arachnodactyly	skos:exactMatch	MIM:121050	Contractural arachnodactyly, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:0111596	distal arthrogryposis type 1	skos:exactMatch	MIM:126050	DIGITOTALAR DYSMORPHISM	semapv:ManualMappingCuration	
DOID:0111597	distal arthrogryposis type 1A	skos:exactMatch	MIM:108120	Arthrogryposis, distal, type 1A	semapv:ManualMappingCuration	2014-06-23
DOID:0111598	distal arthrogryposis type 1B	skos:exactMatch	MIM:614335	Arthrogryposis, distal, type 1B	semapv:ManualMappingCuration	2014-09-02
DOID:0111600	distal arthrogryposis type 2B1	skos:exactMatch	MIM:601680	Arthrogryposis, distal, type 2B1	semapv:ManualMappingCuration	2017-10-03
DOID:0111601	distal arthrogryposis type 2B2	skos:exactMatch	MIM:618435	Arthrogryposis, distal, type 2B2	semapv:ManualMappingCuration	2020-02-28
DOID:0111602	distal arthrogryposis type 2B3	skos:exactMatch	MIM:618436	Arthrogryposis, distal, type 2B3 (Sheldon-Hall)	semapv:ManualMappingCuration	2019-06-25
DOID:0111603	distal arthrogryposis type 7	skos:exactMatch	MIM:158300	Trismus-pseudocamptodactyly syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111605	distal arthrogryposis type 2A	skos:exactMatch	MIM:193700	Arthrogryposis, distal, type 2A (Freeman-Sheldon)	semapv:ManualMappingCuration	2020-02-04
DOID:0111606	autosomal recessive Whistling face syndrome	skos:exactMatch	MIM:277720	WHISTLING FACE SYNDROME, RECESSIVE FORM	semapv:ManualMappingCuration	2020-02-04
DOID:0111607	distal arthrogryposis type 3	skos:exactMatch	MIM:114300	Arthrogryposis, distal, type 3	semapv:ManualMappingCuration	2014-10-20
DOID:0111608	distal arthrogryposis type 5	skos:exactMatch	MIM:108145	Arthrogryposis, distal, type 5	semapv:ManualMappingCuration	2014-10-20
DOID:0111609	distal arthrogryposis type 6	skos:exactMatch	MIM:108200	ARTHROGRYPOSIS, DISTAL, TYPE 6	semapv:ManualMappingCuration	2018-08-22
DOID:0111610	distal arthrogryposis type 4	skos:exactMatch	MIM:609128	ARTHROGRYPOSIS, DISTAL, TYPE 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111611	autosomal recessive spinocerebellar ataxia 4	skos:exactMatch	MIM:607317	Spinocerebellar ataxia, autosomal recessive 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111612	autosomal recessive spinocerebellar ataxia 3	skos:exactMatch	MIM:271250	Spinocerebellar ataxia, autosomal recessive 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111613	autosomal recessive spinocerebellar ataxia 23	skos:exactMatch	MIM:616949	Spinocerebellar ataxia, autosomal recessive 23	semapv:ManualMappingCuration	2016-06-14
DOID:0111614	autosomal recessive spinocerebellar ataxia 22	skos:exactMatch	MIM:616948	?Spinocerebellar ataxia, autosomal recessive 22	semapv:ManualMappingCuration	2017-10-18
DOID:0111615	autosomal recessive spinocerebellar ataxia 24	skos:exactMatch	MIM:617133	?Spinocerebellar ataxia, autosomal recessive 24	semapv:ManualMappingCuration	2016-11-11
DOID:0111616	autosomal recessive spinocerebellar ataxia 27	skos:exactMatch	MIM:618369	Spinocerebellar ataxia, autosomal recessive 27	semapv:ManualMappingCuration	2019-03-29
DOID:0111617	autosomal recessive spinocerebellar ataxia 6	skos:exactMatch	MIM:608029	Spinocerebellar ataxia, autosomal recessive 6	semapv:ManualMappingCuration	2017-10-03
DOID:0111618	autosomal recessive spinocerebellar ataxia 8	skos:exactMatch	MIM:610743	Spinocerebellar ataxia, autosomal recessive 8	semapv:ManualMappingCuration	2017-10-03
DOID:0111619	combined D-2- and L-2-hydroxyglutaric aciduria	skos:exactMatch	MIM:615182	Combined D-2- and L-2-hydroxyglutaric aciduria	semapv:ManualMappingCuration	2015-04-13
DOID:0111620	corneal dystrophy-perceptive deafness syndrome	skos:exactMatch	MIM:217400	Corneal endothelial dystrophy and perceptive deafness	semapv:ManualMappingCuration	2017-10-10
DOID:0111621	Temtamy syndrome	skos:exactMatch	MIM:218340	Temtamy syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111622	ACTH-independent macronodular adrenal hyperplasia	skos:exactMatch	MIM:PS219080	ACTH-independent macronodular adrenal hyperplasia 1, somatic	semapv:ManualMappingCuration	2024-11-04
DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1	skos:exactMatch	MIM:219080	ACTH-independent macronodular adrenal hyperplasia 1, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:0111624	ACTH-independent macronodular adrenal hyperplasia 2	skos:exactMatch	MIM:615954	{ACTH-independent macronodular adrenal hyperplasia 2}	semapv:ManualMappingCuration	2017-02-14
DOID:0111625	ventriculomegaly - cystic kidney disease	skos:exactMatch	MIM:219730	Ventriculomegaly with cystic kidney disease	semapv:ManualMappingCuration	2017-10-10
DOID:0111626	D-glyceric aciduria	skos:exactMatch	MIM:220120	D-glyceric aciduria	semapv:ManualMappingCuration	2014-10-20
DOID:0111627	DOORS syndrome	skos:exactMatch	MIM:220500	DOORS syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111628	high myopia-sensorineural deafness syndrome	skos:exactMatch	MIM:221200	Deafness and myopia	semapv:ManualMappingCuration	2017-10-10
DOID:0111629	dihydropyrimidinase deficiency	skos:exactMatch	MIM:222748	Dihydropyrimidinuria	semapv:ManualMappingCuration	2017-10-03
DOID:0111630	familial erythrocytosis 8	skos:exactMatch	MIM:222800	Erythrocytosis, familial, 8	semapv:ManualMappingCuration	2014-06-23
DOID:0111631	familial erythrocytosis 7	skos:exactMatch	MIM:617981	Erythrocytosis, familial, 7	semapv:ManualMappingCuration	2018-06-18
DOID:0111632	familial erythrocytosis 6	skos:exactMatch	MIM:617980	Erythrocytosis, familial, 6	semapv:ManualMappingCuration	2018-06-18
DOID:0111633	congenital sucrase-isomaltase deficiency	skos:exactMatch	MIM:222900	Sucrase-isomaltase deficiency, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:0111634	autosomal recessive nonsyndromic deafness 99	skos:exactMatch	MIM:618481	Deafness, autosomal recessive 99	semapv:ManualMappingCuration	2019-06-25
DOID:0111635	autosomal recessive nonsyndromic deafness 57	skos:exactMatch	MIM:618003	Deafness, autosomal recessive 57	semapv:ManualMappingCuration	2018-06-18
DOID:0111636	autosomal recessive nonsyndromic deafness 113	skos:exactMatch	MIM:618410	Deafness, autosomal recessive 113	semapv:ManualMappingCuration	2019-05-03
DOID:0111637	autosomal recessive nonsyndromic deafness 112	skos:exactMatch	MIM:618257	?Deafness, autosomal recessive 112	semapv:ManualMappingCuration	2019-01-11
DOID:0111638	autosomal recessive nonsyndromic deafness 100	skos:exactMatch	MIM:618422	Deafness, autosomal recessive 100	semapv:ManualMappingCuration	2019-05-30
DOID:0111639	autosomal recessive nonsyndromic deafness 109	skos:exactMatch	MIM:618013	?Deafness, autosomal recessive 109	semapv:ManualMappingCuration	2018-08-13
DOID:0111640	autosomal recessive nonsyndromic deafness 111	skos:exactMatch	MIM:618145	Deafness, autosomal recessive 111	semapv:ManualMappingCuration	2019-01-11
DOID:0111641	autosomal recessive nonsyndromic deafness 94	skos:exactMatch	MIM:618434	?Deafness, autosomal recessive 94	semapv:ManualMappingCuration	2019-06-25
DOID:0111642	autosomal recessive nonsyndromic deafness 114	skos:exactMatch	MIM:618456	Deafness, autosomal recessive 114	semapv:ManualMappingCuration	2019-06-25
DOID:0111643	autosomal recessive nonsyndromic deafness 115	skos:exactMatch	MIM:618457	?Deafness, autosomal recessive 115	semapv:ManualMappingCuration	2019-06-25
DOID:0111644	autosomal recessive nonsyndromic deafness 110	skos:exactMatch	MIM:618094	?Deafness, autosomal recessive 110	semapv:ManualMappingCuration	2020-01-29
DOID:0111645	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	skos:exactMatch	MIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp	semapv:ManualMappingCuration	2017-10-03
DOID:0111646	congenital lactase deficiency	skos:exactMatch	MIM:223000	Lactase deficiency, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:0111647	Schopf-Schulz-Passarge syndrome	skos:exactMatch	MIM:224750	Schopf-Schulz-Passarge syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111648	ectopia lentis with ectopia of pupil	skos:exactMatch	MIM:225200	Ectopia lentis et pupillae	semapv:ManualMappingCuration	2014-10-20
DOID:0111649	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	skos:exactMatch	MIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:0111650	ectodermal dysplasia 13	skos:exactMatch	MIM:617392	Ectodermal dysplasia 13, hair/tooth type	semapv:ManualMappingCuration	2017-06-15
DOID:0111651	ectodermal dysplasia 15	skos:exactMatch	MIM:618535	?Ectodermal dysplasia 15, hypohidrotic/hair type	semapv:ManualMappingCuration	2019-09-03
DOID:0111652	ectodermal dysplasia 12	skos:exactMatch	MIM:617337	?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	semapv:ManualMappingCuration	2017-06-15
DOID:0111653	ectodermal dysplasia 11A	skos:exactMatch	MIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	semapv:ManualMappingCuration	2014-09-09
DOID:0111654	ectodermal dysplasia 11B	skos:exactMatch	MIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0111656	ectodermal dysplasia 9	skos:exactMatch	MIM:614931	Ectodermal dysplasia 9, hair/nail type	semapv:ManualMappingCuration	2014-09-09
DOID:0111657	ectodermal dysplasia 5	skos:exactMatch	MIM:614927	Ectodermal dysplasia 5, hair/nail type	semapv:ManualMappingCuration	2020-02-05
DOID:0111658	ectodermal dysplasia 4	skos:exactMatch	MIM:602032	Ectodermal dysplasia 4, hair/nail type	semapv:ManualMappingCuration	2014-06-23
DOID:0111659	ectodermal dysplasia 6	skos:exactMatch	MIM:614928	Ectodermal dysplasia 6, hair/nail type	semapv:ManualMappingCuration	2020-02-05
DOID:0111660	ectodermal dysplasia 7	skos:exactMatch	MIM:614929	?Ectodermal dysplasia 7, hair/nail type	semapv:ManualMappingCuration	2017-10-10
DOID:0111661	ectodermal dysplasia 8	skos:exactMatch	MIM:602401	Ectodermal dysplasia 8, hair/tooth/nail type	semapv:ManualMappingCuration	2020-02-05
DOID:0111662	ectodermal dysplasia 14	skos:exactMatch	MIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	semapv:ManualMappingCuration	2018-11-09
DOID:0111663	ectodermal dysplasia 10A	skos:exactMatch	MIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0111664	ectodermal dysplasia 1	skos:exactMatch	MIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0111665	ectodermal dysplasia 10B	skos:exactMatch	MIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	skos:exactMatch	MIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111667	enterokinase deficiency	skos:exactMatch	MIM:226200	Enterokinase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111668	Kohlschutter-Tonz syndrome	skos:exactMatch	MIM:226750	Kohlschutter-Tonz syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111669	hyaline fibromatosis syndrome	skos:exactMatch	MIM:228600	Hyaline fibromatosis syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111670	primary hyperoxaluria type 1	skos:exactMatch	MIM:259900	Hyperoxaluria, primary, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111671	primary hyperoxaluria type 2	skos:exactMatch	MIM:260000	Hyperoxaluria, primary, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0111672	primary hyperoxaluria type 3	skos:exactMatch	MIM:613616	Hyperoxaluria, primary, type III	semapv:ManualMappingCuration	2014-06-23
DOID:0111673	Saul-Wilson syndrome	skos:exactMatch	MIM:618150	Saul-Wilson syndrome	semapv:ManualMappingCuration	2018-11-09
DOID:0111674	intellectual developmental disorder with short stature and behavioral abnormalities	skos:exactMatch	MIM:618687	Intellectual developmental disorder with short stature and behavioral abnormalities	semapv:ManualMappingCuration	2020-01-10
DOID:0111675	neurooculocardiogenitourinary syndrome	skos:exactMatch	MIM:618652	Neurooculocardiogenitourinary syndrome	semapv:ManualMappingCuration	2020-02-19
DOID:0111676	high molecular weight kininogen deficiency	skos:exactMatch	MIM:228960	[High molecular weight kininogen deficiency]	semapv:ManualMappingCuration	2017-10-03
DOID:0111677	familial benign fleck retina	skos:exactMatch	MIM:228980	[Fleck retina, familial benign]	semapv:ManualMappingCuration	2014-10-20
DOID:0111678	hereditary folate malabsorption	skos:exactMatch	MIM:229050	Folate malabsorption, hereditary	semapv:ManualMappingCuration	2017-10-03
DOID:0111679	glutamate formiminotransferase deficiency	skos:exactMatch	MIM:229100	Glutamate formiminotransferase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111680	essential fructosuria	skos:exactMatch	MIM:229800	?[Fructosuria, essential]	semapv:ManualMappingCuration	2017-10-03
DOID:0111681	glutamate-cysteine ligase deficiency	skos:exactMatch	MIM:230450	Anemia, congenital, nonspherocytic hemolytic, 7	semapv:ManualMappingCuration	2017-10-03
DOID:0111682	diffuse cystic renal dysplasia	skos:exactMatch	MIM:601331	{Renal dysplasia, cystic, susceptibility to}	semapv:ManualMappingCuration	2020-02-19
DOID:0111683	neurofibromatosis-Noonan syndrome	skos:exactMatch	MIM:601321	Neurofibromatosis-Noonan syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111684	hereditary mixed polyposis syndrome	skos:exactMatch	MIM:PS601228	{Colorectal cancer, susceptibility to, 4}	semapv:ManualMappingCuration	2022-02-07
DOID:0111685	hereditary mixed polyposis syndrome 1	skos:exactMatch	MIM:601228	{Colorectal cancer, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:0111686	hereditary mixed polyposis syndrome 2	skos:exactMatch	MIM:610069	Polyposis syndrome, hereditary mixed, 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111687	Potocki-Shaffer syndrome	skos:exactMatch	MIM:601224	Potocki-Shaffer syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111688	Ayme-Gripp syndrome	skos:exactMatch	MIM:601088	Ayme-Gripp syndrome	semapv:ManualMappingCuration	2016-11-08
DOID:0111689	familial adult myoclonic epilepsy	skos:exactMatch	MIM:PS601068	Epilepsy, familial adult myoclonic, 1	semapv:ManualMappingCuration	2020-02-19
DOID:0111690	familial adult myoclonic epilepsy 1	skos:exactMatch	MIM:601068	Epilepsy, familial adult myoclonic, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111691	familial adult myoclonic epilepsy 5	skos:exactMatch	MIM:615400	Epilepsy, early-onset, 5, with or without developmental delay	semapv:ManualMappingCuration	2014-09-09
DOID:0111692	familial adult myoclonic epilepsy 2	skos:exactMatch	MIM:607876	Epilepsy, familial adult myoclonic, 2	semapv:ManualMappingCuration	2014-06-23
DOID:0111693	familial adult myoclonic epilepsy 4	skos:exactMatch	MIM:615127	?Epilepsy, myoclonic, familial adult, 4	semapv:ManualMappingCuration	2019-11-20
DOID:0111694	familial adult myoclonic epilepsy 7	skos:exactMatch	MIM:618075	?Epilepsy, familial adult myoclonic, 7	semapv:ManualMappingCuration	2018-09-11
DOID:0111695	familial adult myoclonic epilepsy 3	skos:exactMatch	MIM:613608	Epilepsy, familial adult myoclonic, 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111696	familial adult myoclonic epilepsy 6	skos:exactMatch	MIM:618074	?Epilepsy, familial adult myoclonic, 6	semapv:ManualMappingCuration	2018-09-11
DOID:0111697	cleft palate, cardiac defects, and intellectual disabillity	skos:exactMatch	MIM:600987	Cleft palate, cardiac defects, and impaired intellectual development	semapv:ManualMappingCuration	2017-06-13
DOID:0111698	proprotein convertase 1/3 deficiency	skos:exactMatch	MIM:600955	Endocrinopathy due to proprotein convertase 1/3 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111699	Van den Ende-Gupta syndrome	skos:exactMatch	MIM:600920	Van den Ende-Gupta syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111700	ankyrin-B-related cardiac arrhythmia	skos:exactMatch	MIM:600919	Long QT syndrome 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111702	loose anagen hair syndrome	skos:exactMatch	MIM:600628	LOOSE ANAGEN HAIR SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:0111703	familial hypertryptophanemia	skos:exactMatch	MIM:600627	[?Hypertryptophanemia]	semapv:ManualMappingCuration	2020-03-05
DOID:0111704	chromosome 2q37 deletion syndrome	skos:exactMatch	MIM:600430	Chromosome 2q37 deletion syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111705	oculoectodermal syndrome	skos:exactMatch	MIM:600268	Oculoectodermal syndrome, somatic	semapv:ManualMappingCuration	2019-09-16
DOID:0111706	oblique facial clefting 1	skos:exactMatch	MIM:600251	?Facial clefting, oblique, 1	semapv:ManualMappingCuration	2014-10-20
DOID:0111707	Bothnian type palmoplantar keratoderma	skos:exactMatch	MIM:600231	Palmoplantar keratoderma, Bothnian type	semapv:ManualMappingCuration	2017-10-03
DOID:0111709	focal nonepidermolytic palmoplantar keratoderma 1	skos:exactMatch	MIM:613000	Palmoplantar keratoderma, nonepidermolytic, focal	semapv:ManualMappingCuration	2014-06-23
DOID:0111710	focal or diffuse nonepidermolytic palmoplantar keratoderma	skos:exactMatch	MIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	semapv:ManualMappingCuration	2014-09-09
DOID:0111711	focal nonepidermolytic palmoplantar keratoderma 2	skos:exactMatch	MIM:616400	?Palmoplantar keratoderma, nonepidermolytic, focal 2	semapv:ManualMappingCuration	2017-03-29
DOID:0111712	Kagami-Ogata syndrome	skos:exactMatch	MIM:608149	Kagami-Ogata syndrome	semapv:ManualMappingCuration	
DOID:0111713	Temple syndrome	skos:exactMatch	MIM:616222	Temple syndrome	semapv:ManualMappingCuration	2020-03-06
DOID:0111714	Mulchandani-Bhoj-Conlin syndrome	skos:exactMatch	MIM:617352	Mulchandani-Bhoj-Conlin syndrome	semapv:ManualMappingCuration	2020-03-06
DOID:0111715	Schaaf-Yang syndrome	skos:exactMatch	MIM:615547	Schaaf-Yang syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:0111717	isolated cryptophthalmia	skos:exactMatch	MIM:123570	Cryptophthalmos, unilateral or bilateral, isolated	semapv:ManualMappingCuration	2020-03-19
DOID:0111722	amelogenesis imperfecta type 3C	skos:exactMatch	MIM:618386	Amelogenesis imperfecta, type IIIC	semapv:ManualMappingCuration	2019-04-12
DOID:0111723	Jacobsen Syndrome	skos:exactMatch	MIM:147791	Jacobsen syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111724	geleophysic dysplasia	skos:exactMatch	MIM:PS231050	Geleophysic dysplasia 1	semapv:ManualMappingCuration	2019-03-26
DOID:0111725	geleophysic dysplasia 1	skos:exactMatch	MIM:231050	Geleophysic dysplasia 1	semapv:ManualMappingCuration	2017-07-25
DOID:0111726	geleophysic dysplasia 2	skos:exactMatch	MIM:614185	Geleophysic dysplasia 2	semapv:ManualMappingCuration	2014-09-09
DOID:0111727	geleophysic dysplasia 3	skos:exactMatch	MIM:617809	Geleophysic dysplasia 3	semapv:ManualMappingCuration	2018-01-15
DOID:0111728	familial episodic pain syndrome	skos:exactMatch	MIM:PS615040	?Episodic pain syndrome, familial, 1	semapv:ManualMappingCuration	2020-03-19
DOID:0111729	familial episodic pain syndrome 1	skos:exactMatch	MIM:615040	?Episodic pain syndrome, familial, 1	semapv:ManualMappingCuration	2014-09-09
DOID:0111730	familial episodic pain syndrome 2	skos:exactMatch	MIM:615551	Episodic pain syndrome, familial, 2	semapv:ManualMappingCuration	2014-09-09
DOID:0111731	familial episodic pain syndrome 3	skos:exactMatch	MIM:615552	Episodic pain syndrome, familial, 3	semapv:ManualMappingCuration	2014-09-09
DOID:0111732	Eiken syndrome	skos:exactMatch	MIM:600002	Eiken syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111733	HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES	skos:exactMatch	MIM:600001	Pancreatic agenesis and congenital heart defects	semapv:ManualMappingCuration	2014-10-20
DOID:0111734	aminoglycoside-induced deafness	skos:exactMatch	MIM:580000	{Deafness, mitochondrial, modifier of}	semapv:ManualMappingCuration	2017-10-03
DOID:0111735	X-linked deafness 4	skos:exactMatch	MIM:300066	Deafness, X-linked 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111736	X-linked deafness 3	skos:exactMatch	MIM:300030	Deafness, X-linked 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111737	X-linked deafness 2	skos:exactMatch	MIM:304400	Deafness, X-linked 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111738	X-linked deafness 7	skos:exactMatch	MIM:301018	?Deafness, X-linked 7	semapv:ManualMappingCuration	2020-03-19
DOID:0111739	X-linked deafness 1	skos:exactMatch	MIM:304500	Deafness, X-linked 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111740	X-linked deafness 6	skos:exactMatch	MIM:300914	?Deafness, X-linked 6	semapv:ManualMappingCuration	2014-09-02
DOID:0111741	X-linked deafness 5	skos:exactMatch	MIM:300614	Deafness, X-linked 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111742	cerebellar ataxia type 42	skos:exactMatch	MIM:616795	Spinocerebellar ataxia 42	semapv:ManualMappingCuration	2016-03-11
DOID:0111743	cerebellar ataxia type 47	skos:exactMatch	MIM:617931	Spinocerebellar ataxia 47	semapv:ManualMappingCuration	2018-09-19
DOID:0111744	cerebellar ataxia type 41	skos:exactMatch	MIM:616410	?Spinocerebellar ataxia 41	semapv:ManualMappingCuration	2017-04-19
DOID:0111745	cerebellar ataxia type 43	skos:exactMatch	MIM:617018	?Spinocerebellar ataxia 43	semapv:ManualMappingCuration	2017-04-19
DOID:0111746	cerebellar ataxia type 48	skos:exactMatch	MIM:618093	Spinocerebellar ataxia 48	semapv:ManualMappingCuration	2019-02-08
DOID:0111747	cerebellar ataxia type 9	skos:exactMatch	MIM:612876	SPINOCEREBELLAR ATAXIA 9	semapv:ManualMappingCuration	2017-10-03
DOID:0111748	mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1	skos:exactMatch	MIM:500015	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1	semapv:ManualMappingCuration	2020-04-01
DOID:0111749	mitochondrial complex V (ATP synthase) deficiency nuclear type 6	skos:exactMatch	MIM:618683	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6	semapv:ManualMappingCuration	2019-12-03
DOID:0111750	adult-onset ataxia and polyneuropathy	skos:exactMatch	MIM:500010	ATAXIA AND POLYNEUROPATHY, ADULT-ONSET	semapv:ManualMappingCuration	
DOID:0111751	mitochondrial nonsyndromic sensorineural deafness	skos:exactMatch	MIM:500008	DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL	semapv:ManualMappingCuration	2017-10-10
DOID:0111752	autosomal-mitochondrial sensorineural deafness	skos:exactMatch	MIM:221745	DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE	semapv:ManualMappingCuration	2020-04-01
DOID:0111753	infantile hypertrophic cardiomyopathy	skos:exactMatch	MIM:500006	CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	semapv:ManualMappingCuration	2020-04-01
DOID:0111755	Leber hereditary optic neuropathy and dystonia	skos:exactMatch	MIM:500001	LEBER OPTIC ATROPHY AND DYSTONIA	semapv:ManualMappingCuration	
DOID:0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	skos:exactMatch	MIM:165200	OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS	semapv:ManualMappingCuration	2020-04-01
DOID:0111757	Y-linked deafness	skos:exactMatch	MIM:PS400043	Deafness, Y-linked 1	semapv:ManualMappingCuration	2019-05-16
DOID:0111758	Y-linked deafness 2	skos:exactMatch	MIM:400047	?Deafness, Y-linked 2	semapv:ManualMappingCuration	2019-04-17
DOID:0111759	Y-linked deafness 1	skos:exactMatch	MIM:400043	Deafness, Y-linked 1	semapv:ManualMappingCuration	2014-06-23
DOID:0111761	46,XX sex reversal 1	skos:exactMatch	MIM:400045	46XX sex reversal 1	semapv:ManualMappingCuration	2014-06-23
DOID:0111762	46,XX sex reversal 3	skos:exactMatch	MIM:300833	46XX sex reversal 3	semapv:ManualMappingCuration	2014-06-23
DOID:0111763	46,XX sex reversal 2	skos:exactMatch	MIM:278850	46XX sex reversal 2	semapv:ManualMappingCuration	2014-06-23
DOID:0111764	46,XX sex reversal 4	skos:exactMatch	MIM:617480	46XX sex reversal 4	semapv:ManualMappingCuration	2020-04-01
DOID:0111765	X-linked cardiac valvular dysplasia	skos:exactMatch	MIM:314400	Cardiac valvular dysplasia, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0111766	X-linked VACTERL association	skos:exactMatch	MIM:276950	VACTERL ASSOCIATION WITH HYDROCEPHALUS	semapv:ManualMappingCuration	2017-10-03
DOID:0111766	X-linked VACTERL association	skos:exactMatch	MIM:314390	VACTERL association, X-linked	semapv:ManualMappingCuration	2015-12-10
DOID:0111767	X-linked thrombocytopenia with beta-thalassemia	skos:exactMatch	MIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0111768	X-linked properdin deficiency	skos:exactMatch	MIM:312060	Properdin deficiency, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0111769	46,XY sex reversal 6	skos:exactMatch	MIM:613762	46XY sex reversal 6	semapv:ManualMappingCuration	2014-09-02
DOID:0111770	46,XY sex reversal 9	skos:exactMatch	MIM:616067	46XY sex reversal 9	semapv:ManualMappingCuration	2015-04-08
DOID:0111771	46,XY sex reversal 4	skos:exactMatch	MIM:154230	46XY sex reversal 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111772	46,XY sex reversal 3	skos:exactMatch	MIM:612965	46XY sex reversal 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111773	46,XY sex reversal 8	skos:exactMatch	MIM:614279	{46XY sex reversal 8, modifier of}	semapv:ManualMappingCuration	2014-10-20
DOID:0111774	46,XY sex reversal 7	skos:exactMatch	MIM:233420	46XY sex reversal 7	semapv:ManualMappingCuration	2017-10-03
DOID:0111775	46,XY sex reversal 10	skos:exactMatch	MIM:616425	46XY sex reversal 10	semapv:ManualMappingCuration	2016-05-31
DOID:0111776	46,XY sex reversal 5	skos:exactMatch	MIM:613080	?46XY sex reversal 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111777	46,XY sex reversal 2	skos:exactMatch	MIM:300018	46XY sex reversal 2, dosage-sensitive	semapv:ManualMappingCuration	2017-10-03
DOID:0111778	46,XY sex reversal 1	skos:exactMatch	MIM:400044	46XY sex reversal 1	semapv:ManualMappingCuration	2014-06-23
DOID:0111779	X-linked panhypopituitarism	skos:exactMatch	MIM:312000	Panhypopituitarism, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0111780	TARP syndrome	skos:exactMatch	MIM:311900	TARP syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111781	Waisman syndrome	skos:exactMatch	MIM:311510	Waisman syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111783	otopalatodigital syndrome type 1	skos:exactMatch	MIM:311300	Otopalatodigital syndrome, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0111784	otopalatodigital syndrome type 2	skos:exactMatch	MIM:304120	Otopalatodigital syndrome, type II	semapv:ManualMappingCuration	2017-10-03
DOID:0111785	frontometaphyseal dysplasia	skos:exactMatch	MIM:PS305620	Frontometaphyseal dysplasia 1	semapv:ManualMappingCuration	2019-03-21
DOID:0111786	frontometaphyseal dysplasia 1	skos:exactMatch	MIM:305620	Frontometaphyseal dysplasia 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111787	frontometaphyseal dysplasia 2	skos:exactMatch	MIM:617137	Frontometaphyseal dysplasia 2	semapv:ManualMappingCuration	2017-02-16
DOID:0111788	Melnick-Needles syndrome	skos:exactMatch	MIM:309350	Melnick-Needles syndrome	semapv:ManualMappingCuration	2020-04-02
DOID:0111789	Frank-Ter Haar syndrome	skos:exactMatch	MIM:249420	Frank-ter Haar syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111790	congenital nystagmus 1	skos:exactMatch	MIM:310700	Nystagmus 1, congenital, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0111791	congenital nystagmus 7	skos:exactMatch	MIM:614826	Nystagmus 7, congenital, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0111792	congenital nystagmus 2	skos:exactMatch	MIM:164100	Nystagmus 2, congenital, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0111793	congenital nystagmus 3	skos:exactMatch	MIM:608345	Nystagmus 3, congenital, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0111795	congenital nystagmus 6	skos:exactMatch	MIM:300814	Nystagmus 6, congenital, X-linked	semapv:ManualMappingCuration	2014-06-23
DOID:0111796	congenital nystagmus 5	skos:exactMatch	MIM:300589	Nystagmus 5, congenital, X-linked	semapv:ManualMappingCuration	2014-06-23
DOID:0111797	autosomal recessive congenital nystagmus	skos:exactMatch	MIM:257400	?Nystagmus 8, congenital, autosomal recessive	semapv:ManualMappingCuration	
DOID:0111798	X-linked nephrolithiasis type I	skos:exactMatch	MIM:310468	Nephrolithiasis, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0111799	syndromic microphthalmia 1	skos:exactMatch	MIM:309800	Microphthalmia, syndromic 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111800	syndromic microphthalmia 12	skos:exactMatch	MIM:615524	Microphthalmia, syndromic 12	semapv:ManualMappingCuration	2014-09-09
DOID:0111801	syndromic microphthalmia 3	skos:exactMatch	MIM:206900	Microphthalmia, syndromic 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111802	syndromic microphthalmia 14	skos:exactMatch	MIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	semapv:ManualMappingCuration	2014-10-16
DOID:0111803	syndromic microphthalmia 8	skos:exactMatch	MIM:601349	Microphthalmia, syndromic 8	semapv:ManualMappingCuration	2017-10-03
DOID:0111804	syndromic microphthalmia 11	skos:exactMatch	MIM:614402	?Microphthalmia, syndromic 11	semapv:ManualMappingCuration	2014-09-09
DOID:0111805	syndromic microphthalmia 6	skos:exactMatch	MIM:607932	Microphthalmia, syndromic 6	semapv:ManualMappingCuration	2017-10-03
DOID:0111806	syndromic microphthalmia 5	skos:exactMatch	MIM:610125	Microphthalmia, syndromic 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111807	syndromic microphthalmia 9	skos:exactMatch	MIM:601186	Microphthalmia, syndromic 9	semapv:ManualMappingCuration	2017-10-03
DOID:0111808	linear skin defects with multiple congenital anomalies 1	skos:exactMatch	MIM:309801	Linear skin defects with multiple congenital anomalies 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111809	syndromic microphthalmia 2	skos:exactMatch	MIM:300166	Microphthalmia, syndromic 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111811	syndromic microphthalmia 13	skos:exactMatch	MIM:300915	?Microphthalmia, syndromic 13	semapv:ManualMappingCuration	2014-09-02
DOID:0111812	syndromic microphthalmia 10	skos:exactMatch	MIM:611222	MICROPHTHALMIA, SYNDROMIC 10	semapv:ManualMappingCuration	2020-03-27
DOID:0111813	syndactyly type 8	skos:exactMatch	MIM:309630	Metacarpal 4-5 fusion	semapv:ManualMappingCuration	2017-10-03
DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type	skos:exactMatch	MIM:309541	Methylmalonic aciduria and homocysteinemia, cblX type	semapv:ManualMappingCuration	2017-10-03
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	skos:exactMatch	MIM:308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	semapv:ManualMappingCuration	2017-10-03
DOID:0111816	syndactyly type 1	skos:exactMatch	MIM:185900	Syndactyly, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111817	syndactyly type 3	skos:exactMatch	MIM:186100	Syndactyly, type III	semapv:ManualMappingCuration	2017-10-03
DOID:0111818	syndactyly type 4	skos:exactMatch	MIM:186200	Syndactyly, type IV	semapv:ManualMappingCuration	2017-10-03
DOID:0111819	syndactyly type 5	skos:exactMatch	MIM:186300	Syndactyly, type V	semapv:ManualMappingCuration	2017-10-03
DOID:0111820	zygodactyly 1	skos:exactMatch	MIM:609815	Zygodactyly 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111821	ichthyosis follicularis-alopecia-photophobia syndrome 1	skos:exactMatch	MIM:308205	IFAP syndrome with or without BRESHECK syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111822	CHILD syndrome	skos:exactMatch	MIM:308050	CHILD syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111823	autosomal hemophilia A	skos:exactMatch	MIM:134500	FACTOR VIII DEFICIENCY	semapv:ManualMappingCuration	2017-10-03
DOID:0111825	autosomal dominant Aarskog syndrome	skos:exactMatch	MIM:100050	AARSKOG SYNDROME, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2014-06-23
DOID:0111826	Abruzzo-Erickson syndrome	skos:exactMatch	MIM:302905	?Abruzzo-Erickson syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0111827	X-linked spinal muscular atrophy 2	skos:exactMatch	MIM:301830	Spinal muscular atrophy, X-linked 2, infantile	semapv:ManualMappingCuration	2017-10-03
DOID:0111829	X-linked spinocerebellar ataxia 1	skos:exactMatch	MIM:302500	?Spinocerebellar ataxia, X-linked 1	semapv:ManualMappingCuration	2017-10-03
DOID:0111830	X-linked spinocerebellar ataxia 2	skos:exactMatch	MIM:302600	SPINOCEREBELLAR ATAXIA, X-LINKED 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111831	X-linked spinocerebellar ataxia 3	skos:exactMatch	MIM:301790	SPINOCEREBELLAR ATAXIA, X-LINKED 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111832	X-linked spinocerebellar ataxia 4	skos:exactMatch	MIM:301840	SPINOCEREBELLAR ATAXIA, X-LINKED 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111833	X-linked spinocerebellar ataxia 5	skos:exactMatch	MIM:300703	Spinocerebellar ataxia, X-linked 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111834	X-linked reticulate pigmentary disorder	skos:exactMatch	MIM:301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0111835	congenital nongoitrous hypothyroidism 9	skos:exactMatch	MIM:301035	Hypothyroidism, congenital, nongoitrous, 9	semapv:ManualMappingCuration	2019-09-27
DOID:0111836	congenital nongoitrous hypothyroidism 7	skos:exactMatch	MIM:618573	Hypothyroidism, congenital, nongoitrous, 7	semapv:ManualMappingCuration	2019-09-06
DOID:0111837	congenital nongoitrous hypothyroidism 8	skos:exactMatch	MIM:301033	Hypothyroidism, congenital, nongoitrous, 8	semapv:ManualMappingCuration	2019-09-27
DOID:0111838	Basilicata-Akhtar syndrome	skos:exactMatch	MIM:301032	Basilicata-Akhtar syndrome	semapv:ManualMappingCuration	2019-09-25
DOID:0111839	congenital disorder of glycosylation Icc	skos:exactMatch	MIM:301031	Congenital disorder of glycosylation, type Icc	semapv:ManualMappingCuration	2019-09-10
DOID:0111840	Van Esch-O'Driscoll syndrome	skos:exactMatch	MIM:301030	Van Esch-O'Driscoll syndrome	semapv:ManualMappingCuration	2019-08-06
DOID:0111841	Shukla-Vernon syndrome	skos:exactMatch	MIM:301029	Shukla-Vernon syndrome	semapv:ManualMappingCuration	2019-08-16
DOID:0111842	Keipert syndrome	skos:exactMatch	MIM:301026	Keipert syndrome	semapv:ManualMappingCuration	2019-06-17
DOID:0111843	Paganini-Miozzo syndrome	skos:exactMatch	MIM:301025	?Paganini-Miozzo syndrome	semapv:ManualMappingCuration	2019-06-25
DOID:0111844	X-linked intellectual developmental disorder 108	skos:exactMatch	MIM:301024	Intellectual developmental disorder, X-linked 108	semapv:ManualMappingCuration	2019-04-10
DOID:0111845	Mullegama-Klein-Martinez syndrome	skos:exactMatch	MIM:301022	Mullegama-Klein-Martinez syndrome	semapv:ManualMappingCuration	2019-03-20
DOID:0111846	X-linked congenital hemolytic anemia	skos:exactMatch	MIM:301015	?Hemolytic anemia, congenital, X-linked	semapv:ManualMappingCuration	2018-09-11
DOID:0111847	osteogenesis imperfecta type 19	skos:exactMatch	MIM:301014	Osteogenesis imperfecta, type XIX	semapv:ManualMappingCuration	2018-09-13
DOID:0111848	osteogenesis imperfecta type 18	skos:exactMatch	MIM:617952	Osteogenesis imperfecta, type XVIII	semapv:ManualMappingCuration	2018-08-15
DOID:0111849	osteogenesis imperfecta type 20	skos:exactMatch	MIM:618644	Osteogenesis imperfecta, type XX	semapv:ManualMappingCuration	2019-10-28
DOID:0111850	primary ciliary dyskinesia 36	skos:exactMatch	MIM:300991	Ciliary dyskinesia, primary, 36, X-linked	semapv:ManualMappingCuration	2017-06-13
DOID:0111851	primary ciliary dyskinesia 44	skos:exactMatch	MIM:618781	Ciliary dyskinesia, primary, 44	semapv:ManualMappingCuration	2020-02-25
DOID:0111852	primary ciliary dyskinesia 38	skos:exactMatch	MIM:618063	Ciliary dyskinesia, primary, 38	semapv:ManualMappingCuration	2018-09-11
DOID:0111853	primary ciliary dyskinesia 40	skos:exactMatch	MIM:618300	Ciliary dyskinesia, primary, 40	semapv:ManualMappingCuration	2019-02-12
DOID:0111854	primary ciliary dyskinesia 39	skos:exactMatch	MIM:618254	Ciliary dyskinesia, primary, 39	semapv:ManualMappingCuration	2019-01-11
DOID:0111855	primary ciliary dyskinesia 42	skos:exactMatch	MIM:618695	Ciliary dyskinesia, primary, 42	semapv:ManualMappingCuration	2019-12-16
DOID:0111856	primary ciliary dyskinesia 43	skos:exactMatch	MIM:618699	Ciliary dyskinesia, primary, 43	semapv:ManualMappingCuration	2019-12-16
DOID:0111857	primary ciliary dyskinesia 45	skos:exactMatch	MIM:618801	Ciliary dyskinesia, primary, 45	semapv:ManualMappingCuration	2020-03-06
DOID:0111858	primary ciliary dyskinesia 41	skos:exactMatch	MIM:618449	?Ciliary dyskinesia, primary, 41	semapv:ManualMappingCuration	2019-06-25
DOID:0111859	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	skos:exactMatch	MIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	semapv:ManualMappingCuration	2017-05-10
DOID:0111860	AMME complex	skos:exactMatch	MIM:300194	AMME complex	semapv:ManualMappingCuration	2017-10-03
DOID:0111861	Meester-Loeys syndrome	skos:exactMatch	MIM:300989	Meester-Loeys syndrome	semapv:ManualMappingCuration	2020-06-19
DOID:0111862	congenital bilateral absence of vas deferens	skos:exactMatch	MIM:PS277180	Congenital bilateral absence of vas deferens	semapv:ManualMappingCuration	2024-02-28
DOID:0111863	X-linked congenital bilateral absence of vas deferens	skos:exactMatch	MIM:300985	Congenital bilateral absence of vas deferens, X-linked	semapv:ManualMappingCuration	2017-10-10
DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens	skos:exactMatch	MIM:277180	Congenital bilateral absence of vas deferens	semapv:ManualMappingCuration	2017-10-03
DOID:0111865	MEND syndrome	skos:exactMatch	MIM:300960	MEND syndrome	semapv:ManualMappingCuration	2017-05-04
DOID:0111866	trichothiodystrophy	skos:exactMatch	MIM:PS601675	Trichothiodystrophy 1, photosensitive	semapv:ManualMappingCuration	2019-04-22
DOID:0111868	nonphotosensitive trichothiodystrophy 5	skos:exactMatch	MIM:300953	Trichothiodystrophy 5, nonphotosensitive	semapv:ManualMappingCuration	2017-04-19
DOID:0111869	photosensitive trichothiodystrophy 2	skos:exactMatch	MIM:616390	Trichothiodystrophy 2, photosensitive	semapv:ManualMappingCuration	2017-09-14
DOID:0111870	nonphotosensitive trichothiodystrophy 7	skos:exactMatch	MIM:618546	Trichothiodystrophy 7, nonphotosensitive	semapv:ManualMappingCuration	2019-09-03
DOID:0111871	photosensitive trichothiodystrophy 3	skos:exactMatch	MIM:616395	Trichothiodystrophy 3, photosensitive	semapv:ManualMappingCuration	2017-10-10
DOID:0111872	nonphotosensitive trichothiodystrophy 6	skos:exactMatch	MIM:616943	Trichothiodystrophy 6, nonphotosensitive	semapv:ManualMappingCuration	2016-06-14
DOID:0111873	photosensitive trichothiodystrophy 1	skos:exactMatch	MIM:601675	Trichothiodystrophy 1, photosensitive	semapv:ManualMappingCuration	2014-06-23
DOID:0111874	Sabinas brittle hair syndrome	skos:exactMatch	MIM:211390	SABINAS BRITTLE HAIR SYNDROME	semapv:ManualMappingCuration	
DOID:0111875	MLS syndrome	skos:exactMatch	MIM:PS309801	Linear skin defects with multiple congenital anomalies 1	semapv:ManualMappingCuration	2019-03-26
DOID:0111876	linear skin defects with multiple congenital anomalies 3	skos:exactMatch	MIM:300952	Linear skin defects with multiple congenital anomalies 3	semapv:ManualMappingCuration	2016-10-18
DOID:0111877	linear skin defects with multiple congenital anomalies 2	skos:exactMatch	MIM:300887	Linear skin defects with multiple congenital anomalies 2	semapv:ManualMappingCuration	2017-05-02
DOID:0111878	Diamond-Blackfan anemia 7	skos:exactMatch	MIM:612562	Diamond-Blackfan anemia 7	semapv:ManualMappingCuration	2017-10-03
DOID:0111879	Diamond-Blackfan anemia 6	skos:exactMatch	MIM:612561	Diamond-Blackfan anemia 6	semapv:ManualMappingCuration	2014-06-23
DOID:0111880	Diamond-Blackfan anemia 17	skos:exactMatch	MIM:617409	?Diamond-Blackfan anemia 17	semapv:ManualMappingCuration	2017-06-14
DOID:0111881	Diamond-Blackfan anemia 8	skos:exactMatch	MIM:612563	Diamond-Blackfan anemia 8	semapv:ManualMappingCuration	2017-10-03
DOID:0111882	Diamond-Blackfan anemia 12	skos:exactMatch	MIM:615550	Diamond-Blackfan anemia 12	semapv:ManualMappingCuration	2014-09-09
DOID:0111883	Diamond-Blackfan anemia 5	skos:exactMatch	MIM:612528	Diamond-Blackfan anemia 5	semapv:ManualMappingCuration	2017-10-03
DOID:0111884	Diamond-Blackfan anemia 9	skos:exactMatch	MIM:613308	Diamond-Blackfan anemia 9	semapv:ManualMappingCuration	2017-10-03
DOID:0111885	Diamond-Blackfan anemia 2	skos:exactMatch	MIM:606129	Diamond-Blackfan anemia 2	semapv:ManualMappingCuration	2017-10-03
DOID:0111886	Diamond-Blackfan anemia 19	skos:exactMatch	MIM:618312	?Diamond-Blackfan anemia 19	semapv:ManualMappingCuration	2017-10-10
DOID:0111887	Diamond-Blackfan anemia 3	skos:exactMatch	MIM:610629	Diamond-blackfan anemia 3	semapv:ManualMappingCuration	2017-10-03
DOID:0111888	Diamond-Blackfan anemia 10	skos:exactMatch	MIM:613309	Diamond-Blackfan anemia 10	semapv:ManualMappingCuration	2017-10-03
DOID:0111889	Diamond-Blackfan anemia 13	skos:exactMatch	MIM:615909	Diamond-Blackfan anemia 13	semapv:ManualMappingCuration	2017-03-03
DOID:0111890	Diamond-Blackfan anemia 4	skos:exactMatch	MIM:612527	Diamond-Blackfan anemia 4	semapv:ManualMappingCuration	2017-10-03
DOID:0111891	Diamond-Blackfan anemia 20	skos:exactMatch	MIM:618313	?Diamond-Blackfan anemia 20	semapv:ManualMappingCuration	2019-02-13
DOID:0111892	Diamond-Blackfan anemia 11	skos:exactMatch	MIM:614900	?Diamond-Blackfan anemia 11	semapv:ManualMappingCuration	2014-09-09
DOID:0111893	Diamond-Blackfan anemia 16	skos:exactMatch	MIM:617408	?Diamond-Blackfan anemia 16	semapv:ManualMappingCuration	2017-06-14
DOID:0111894	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	skos:exactMatch	MIM:606164	Diamond Blackfan anemia 15 with mandibulofacial dysostosis	semapv:ManualMappingCuration	2016-09-07
DOID:0111895	Diamond-Blackfan anemia 1	skos:exactMatch	MIM:105650	Diamond-Blackfan anemia 1	semapv:ManualMappingCuration	2018-06-01
DOID:0111896	Diamond-Blackfan anemia 18	skos:exactMatch	MIM:618310	?Diamond-Blackfan anemia 18	semapv:ManualMappingCuration	2019-02-13
DOID:0111897	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	skos:exactMatch	MIM:300946	?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	semapv:ManualMappingCuration	2015-11-10
DOID:0111898	CK syndrome	skos:exactMatch	MIM:300831	CK syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0111899	X-linked thrombophilia due to factor IX defect	skos:exactMatch	MIM:300807	{Deep venous thrombosis, protection against}	semapv:ManualMappingCuration	2017-10-03
DOID:0111900	autosomal dominant thrombophilia due to protein S deficiency	skos:exactMatch	MIM:612336	Thrombophilia 5 due to protein S deficiency, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0111901	heparin cofactor II deficiency	skos:exactMatch	MIM:612356	Thrombophilia 10 due to heparin cofactor II deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111902	thrombophilia due to activated protein C resistance	skos:exactMatch	MIM:188055	{Thrombophilia, susceptibility to, due to factor V Leiden}	semapv:ManualMappingCuration	2017-10-03
DOID:0111903	thrombophilia due to HRG deficiency	skos:exactMatch	MIM:613116	Thrombophilia 11 due to HRG deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111904	autosomal recessive thrombophilia due to protein C deficiency	skos:exactMatch	MIM:612304	Thrombophilia 3 due to protein C deficiency, autosomal recessive	semapv:ManualMappingCuration	2014-06-23
DOID:0111905	autosomal recessive thrombophilia due to protein S deficiency	skos:exactMatch	MIM:614514	Thrombophilia 5 due to protein S deficiency, autosomal recessive	semapv:ManualMappingCuration	2014-10-20
DOID:0111906	thrombophilia due to decreased release of PLAT	skos:exactMatch	MIM:612348	?Thrombophilia 9 due to decreased release of tissue plasminogen	semapv:ManualMappingCuration	2014-06-23
DOID:0111907	thrombophilia due to thrombin defect	skos:exactMatch	MIM:188050	{Venous thromboembolism, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:0111908	thrombophilia due to thrombomodulin defect	skos:exactMatch	MIM:614486	Thrombophilia 12 due to thrombomodulin defect	semapv:ManualMappingCuration	2014-10-20
DOID:0111909	autosomal dominant thrombophilia due to protein C deficiency	skos:exactMatch	MIM:176860	Thrombophilia 3 due to protein C deficiency, autosomal dominant	semapv:ManualMappingCuration	2018-06-12
DOID:0111910	spermatogenic failure	skos:exactMatch	MIM:PS258150	Spermatogenic failure 1	semapv:ManualMappingCuration	2019-03-27
DOID:0111911	spermatogenic failure 34	skos:exactMatch	MIM:618153	Spermatogenic failure 34	semapv:ManualMappingCuration	
DOID:0111912	spermatogenic failure 41	skos:exactMatch	MIM:618670	?Spermatogenic failure 41	semapv:ManualMappingCuration	2019-11-22
DOID:0111913	spermatogenic failure 30	skos:exactMatch	MIM:618110	?Spermatogenic failure 30	semapv:ManualMappingCuration	2019-04-09
DOID:0111914	spermatogenic failure 35	skos:exactMatch	MIM:618341	Spermatogenic failure 35	semapv:ManualMappingCuration	2019-02-27
DOID:0111915	spermatogenic failure 33	skos:exactMatch	MIM:618152	Spermatogenic failure 33	semapv:ManualMappingCuration	2019-02-08
DOID:0111916	spermatogenic failure 28	skos:exactMatch	MIM:618086	Spermatogenic failure 28	semapv:ManualMappingCuration	2018-09-14
DOID:0111917	spermatogenic failure 43	skos:exactMatch	MIM:618751	Spermatogenic failure 43	semapv:ManualMappingCuration	2020-01-28
DOID:0111918	spermatogenic failure 40	skos:exactMatch	MIM:618664	Spermatogenic failure 40	semapv:ManualMappingCuration	2019-11-21
DOID:0111919	spermatogenic failure 38	skos:exactMatch	MIM:618433	Spermatogenic failure 38	semapv:ManualMappingCuration	2019-06-17
DOID:0111920	spermatogenic failure 25	skos:exactMatch	MIM:617960	Spermatogenic failure 25	semapv:ManualMappingCuration	2018-06-19
DOID:0111921	spermatogenic failure 36	skos:exactMatch	MIM:618420	Spermatogenic failure 36	semapv:ManualMappingCuration	2019-05-29
DOID:0111922	spermatogenic failure 31	skos:exactMatch	MIM:618112	Spermatogenic failure 31	semapv:ManualMappingCuration	2017-10-03
DOID:0111923	spermatogenic failure 42	skos:exactMatch	MIM:618745	Spermatogenic failure 42	semapv:ManualMappingCuration	2020-01-24
DOID:0111924	spermatogenic failure 26	skos:exactMatch	MIM:617961	?Spermatogenic failure 26	semapv:ManualMappingCuration	2018-06-19
DOID:0111925	spermatogenic failure 32	skos:exactMatch	MIM:618115	Spermatogenic failure 32	semapv:ManualMappingCuration	2017-10-03
DOID:0111926	spermatogenic failure 39	skos:exactMatch	MIM:618643	Spermatogenic failure 39	semapv:ManualMappingCuration	2019-10-28
DOID:0111927	spermatogenic failure 37	skos:exactMatch	MIM:618429	Spermatogenic failure 37	semapv:ManualMappingCuration	2019-06-11
DOID:0111928	spermatogenic failure 27	skos:exactMatch	MIM:617965	?Spermatogenic failure 27	semapv:ManualMappingCuration	2018-08-17
DOID:0111929	spermatogenic failure 24	skos:exactMatch	MIM:617959	Spermatogenic failure 24	semapv:ManualMappingCuration	2018-08-17
DOID:0111930	spermatogenic failure 29	skos:exactMatch	MIM:618091	?Spermatogenic failure 29	semapv:ManualMappingCuration	2018-09-14
DOID:0111931	syndactyly-telecanthus-anogenital and renal malformations syndrome	skos:exactMatch	MIM:300707	STAR syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0111932	severe congenital encephalopathy due to MECP2 mutation	skos:exactMatch	MIM:300673	Encephalopathy, neonatal severe	semapv:ManualMappingCuration	2017-10-03
DOID:0111933	phosphoglycerate kinase 1 deficiency	skos:exactMatch	MIM:300653	Phosphoglycerate kinase 1 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0111934	immunodeficiency 38	skos:exactMatch	MIM:616126	Immunodeficiency 38	semapv:ManualMappingCuration	2015-04-08
DOID:0111935	immunodeficiency 16	skos:exactMatch	MIM:615593	?Immunodeficiency 16	semapv:ManualMappingCuration	2015-07-01
DOID:0111936	immunodeficiency 14	skos:exactMatch	MIM:615513	Immunodeficiency 14A, autosomal dominant	semapv:ManualMappingCuration	2014-09-09
DOID:0111936	immunodeficiency 14	skos:exactMatch	MIM:619281	Immunodeficiency 14B, autosomal recessive	semapv:ManualMappingCuration	2021-04-22
DOID:0111937	immunodeficiency 22	skos:exactMatch	MIM:615758	Immunodeficiency 22	semapv:ManualMappingCuration	2017-04-27
DOID:0111938	immunodeficiency 24	skos:exactMatch	MIM:615897	Immunodeficiency 24	semapv:ManualMappingCuration	2017-04-27
DOID:0111939	immunodeficiency 37	skos:exactMatch	MIM:616098	?Immunodeficiency 37	semapv:ManualMappingCuration	2017-04-28
DOID:0111940	immunodeficiency 42	skos:exactMatch	MIM:616622	Immunodeficiency 42	semapv:ManualMappingCuration	2017-04-28
DOID:0111941	immunodeficiency 20	skos:exactMatch	MIM:615707	Immunodeficiency 20	semapv:ManualMappingCuration	2014-09-09
DOID:0111942	immunodeficiency 25	skos:exactMatch	MIM:610163	?Immunodeficiency 25	semapv:ManualMappingCuration	2017-10-03
DOID:0111943	immunodeficiency 48	skos:exactMatch	MIM:269840	Immunodeficiency 48	semapv:ManualMappingCuration	2014-10-20
DOID:0111944	immunodeficiency 31B	skos:exactMatch	MIM:613796	Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0111945	immunodeficiency 31A	skos:exactMatch	MIM:614892	Immunodeficiency 31A, mycobacteriosis, autosomal dominant	semapv:ManualMappingCuration	2017-04-28
DOID:0111946	immunodeficiency 31C	skos:exactMatch	MIM:614162	Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant	semapv:ManualMappingCuration	2014-09-02
DOID:0111947	immunodeficiency 21	skos:exactMatch	MIM:614172	Immunodeficiency 21	semapv:ManualMappingCuration	2014-09-09
DOID:0111948	immunodeficiency 46	skos:exactMatch	MIM:616740	Immunodeficiency 46	semapv:ManualMappingCuration	2016-02-09
DOID:0111949	immunodeficiency 36	skos:exactMatch	MIM:616005	Immunodeficiency 36	semapv:ManualMappingCuration	2017-01-30
DOID:0111950	immunodeficiency 29	skos:exactMatch	MIM:614890	Immunodeficiency 29, mycobacteriosis	semapv:ManualMappingCuration	2017-04-28
DOID:0111951	immunodeficiency 40	skos:exactMatch	MIM:616433	Immunodeficiency 40	semapv:ManualMappingCuration	2017-04-28
DOID:0111952	immunodeficiency 57	skos:exactMatch	MIM:618108	Immunodeficiency 57 with autoinflammation	semapv:ManualMappingCuration	2019-04-09
DOID:0111953	immunodeficiency 23	skos:exactMatch	MIM:615816	Immunodeficiency 23	semapv:ManualMappingCuration	2014-09-09
DOID:0111954	immunodeficiency 60	skos:exactMatch	MIM:618394	Immunodeficiency 60 and autoimmunity	semapv:ManualMappingCuration	2019-04-19
DOID:0111955	immunodeficiency 27A	skos:exactMatch	MIM:209950	Immunodeficiency 27A, mycobacteriosis, AR	semapv:ManualMappingCuration	2017-10-03
DOID:0111956	immunodeficiency 27B	skos:exactMatch	MIM:615978	Immunodeficiency 27B, mycobacteriosis, AD	semapv:ManualMappingCuration	2017-01-30
DOID:0111957	immunodeficiency 11A	skos:exactMatch	MIM:615206	Immunodeficiency 11A	semapv:ManualMappingCuration	2014-09-02
DOID:0111958	immunodeficiency 11B	skos:exactMatch	MIM:617638	Immunodeficiency 11B with atopic dermatitis	semapv:ManualMappingCuration	2017-12-04
DOID:0111959	immunodeficiency 15B	skos:exactMatch	MIM:615592	Immunodeficiency 15B	semapv:ManualMappingCuration	2014-09-09
DOID:0111960	immunodeficiency 15A	skos:exactMatch	MIM:618204	Immunodeficiency 15A	semapv:ManualMappingCuration	2019-01-14
DOID:0111961	immunodeficiency 26	skos:exactMatch	MIM:615966	Immunodeficiency 26, with or without neurologic abnormalities	semapv:ManualMappingCuration	2016-06-13
DOID:0111967	immunodeficiency 54	skos:exactMatch	MIM:609981	Immunodeficiency 54	semapv:ManualMappingCuration	2014-06-23
DOID:0111968	immunodeficiency 41	skos:exactMatch	MIM:606367	Immunodeficiency 41 with lymphoproliferation and autoimmunity	semapv:ManualMappingCuration	2017-10-03
DOID:0111969	immunodeficiency 39	skos:exactMatch	MIM:616345	?Immunodeficiency 39	semapv:ManualMappingCuration	2017-04-28
DOID:0111970	immunodeficiency 10	skos:exactMatch	MIM:612783	Immunodeficiency 10	semapv:ManualMappingCuration	2017-10-03
DOID:0111971	immunodeficiency 18	skos:exactMatch	MIM:615615	Immunodeficiency 18	semapv:ManualMappingCuration	2014-10-20
DOID:0111972	immunodeficiency 19	skos:exactMatch	MIM:615617	Immunodeficiency 19, severe combined	semapv:ManualMappingCuration	2014-09-09
DOID:0111973	immunodeficiency 17	skos:exactMatch	MIM:615607	Immunodeficiency 17, CD3 gamma deficient	semapv:ManualMappingCuration	2014-10-20
DOID:0111974	immunodeficiency 59	skos:exactMatch	MIM:233600	?Immunodeficiency 59 and hypoglycemia	semapv:ManualMappingCuration	
DOID:0111975	immunodeficiency 44	skos:exactMatch	MIM:616636	Immunodeficiency 44	semapv:ManualMappingCuration	2016-01-14
DOID:0111976	immunodeficiency 9	skos:exactMatch	MIM:612782	Immunodeficiency 9	semapv:ManualMappingCuration	2017-10-03
DOID:0111977	immunodeficiency 7	skos:exactMatch	MIM:615387	Immunodeficiency 7, TCR-alpha/beta deficient	semapv:ManualMappingCuration	2014-09-09
DOID:0111978	immunodeficiency 65	skos:exactMatch	MIM:618648	Immunodeficiency 65, susceptibility to viral infections	semapv:ManualMappingCuration	2019-10-31
DOID:0111979	immunodeficiency 49	skos:exactMatch	MIM:617237	Immunodeficiency 49, severe combined	semapv:ManualMappingCuration	2017-04-28
DOID:0111980	immunodeficiency 64	skos:exactMatch	MIM:618534	Immunodeficiency 64	semapv:ManualMappingCuration	2019-09-03
DOID:0111981	immunodeficiency 43	skos:exactMatch	MIM:241600	Immunodeficiency 43	semapv:ManualMappingCuration	2017-10-03
DOID:0111982	immunodeficiency 56	skos:exactMatch	MIM:615207	Immunodeficiency 56	semapv:ManualMappingCuration	2014-09-09
DOID:0111983	immunodeficiency 52	skos:exactMatch	MIM:617514	Immunodeficiency 52	semapv:ManualMappingCuration	2017-07-11
DOID:0111984	immunodeficiency 58	skos:exactMatch	MIM:618131	Immunodeficiency 58	semapv:ManualMappingCuration	2018-11-09
DOID:0111985	immunodeficiency 32B	skos:exactMatch	MIM:226990	Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive	semapv:ManualMappingCuration	2014-09-02
DOID:0111986	immunodeficiency 32A	skos:exactMatch	MIM:614893	Immunodeficiency 32A, mycobacteriosis, autosomal dominant	semapv:ManualMappingCuration	2015-06-30
DOID:0111987	immunodeficiency 13	skos:exactMatch	MIM:615518	?Immunodeficiency 13	semapv:ManualMappingCuration	2014-09-09
DOID:0111988	immunodeficiency 12	skos:exactMatch	MIM:615468	Immunodeficiency 12	semapv:ManualMappingCuration	2014-09-09
DOID:0111989	immunodeficiency 35	skos:exactMatch	MIM:611521	Immunodeficiency 35	semapv:ManualMappingCuration	2017-10-03
DOID:0111990	immunodeficiency 30	skos:exactMatch	MIM:614891	Immunodeficiency 30	semapv:ManualMappingCuration	2014-11-21
DOID:0111991	immunodeficiency 62	skos:exactMatch	MIM:618459	?Immunodeficiency 62	semapv:ManualMappingCuration	2019-06-25
DOID:0111992	immunodeficiency 53	skos:exactMatch	MIM:617585	?Immunodeficiency 53	semapv:ManualMappingCuration	2017-12-04
DOID:0111993	immunodeficiency 55	skos:exactMatch	MIM:617827	Immunodeficiency 55	semapv:ManualMappingCuration	2018-02-07
DOID:0111994	immunodeficiency 45	skos:exactMatch	MIM:616669	Immunodeficiency 45	semapv:ManualMappingCuration	2016-01-14
DOID:0111995	immunodeficiency 28	skos:exactMatch	MIM:614889	Immunodeficiency 28, mycobacteriosis	semapv:ManualMappingCuration	2017-04-27
DOID:0111996	immunodeficiency 51	skos:exactMatch	MIM:613953	Immunodeficiency 51	semapv:ManualMappingCuration	2014-09-02
DOID:0111997	immunodeficiency 63	skos:exactMatch	MIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	semapv:ManualMappingCuration	2019-07-16
DOID:0111998	immunodeficiency 66	skos:exactMatch	MIM:618847	?Immunodeficiency 66	semapv:ManualMappingCuration	2020-04-22
DOID:0111999	immunodeficiency 61	skos:exactMatch	MIM:300310	?Immunodeficiency 61	semapv:ManualMappingCuration	2017-10-03
DOID:0112000	immunodeficiency 34	skos:exactMatch	MIM:300645	Immunodeficiency 34, mycobacteriosis, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0112001	immunodeficiency 50	skos:exactMatch	MIM:300988	Immunodeficiency 50	semapv:ManualMappingCuration	2017-04-28
DOID:0112002	immunodeficiency 47	skos:exactMatch	MIM:300972	Immunodeficiency 47	semapv:ManualMappingCuration	2017-10-10
DOID:0112003	immunodeficiency 33	skos:exactMatch	MIM:300636	Immunodeficiency 33	semapv:ManualMappingCuration	2017-10-03
DOID:0112004	immunodeficiency 71	skos:exactMatch	MIM:617718	Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia	semapv:ManualMappingCuration	2017-12-07
DOID:0112005	immunodeficiency 70	skos:exactMatch	MIM:618969	Immunodeficiency 70	semapv:ManualMappingCuration	2020-08-03
DOID:0112006	immunodeficiency 69	skos:exactMatch	MIM:618963	?Immunodeficiency 69, mycobacteriosis	semapv:ManualMappingCuration	2020-08-03
DOID:0112007	growth hormone secreting pituitary adenoma 2	skos:exactMatch	MIM:300943	Pituitary adenoma 2, GH-secreting	semapv:ManualMappingCuration	2017-03-13
DOID:0112008	pituitary adenoma 5	skos:exactMatch	MIM:617540	{Pituitary adenoma 5, multiple types}	semapv:ManualMappingCuration	2017-12-06
DOID:0112009	pituitary adenoma 1	skos:exactMatch	MIM:102200	Pituitary adenoma predisposition	semapv:ManualMappingCuration	2017-10-03
DOID:0112010	pituitary adenoma 3	skos:exactMatch	MIM:617686	Pituitary adenoma 3, multiple types, somatic	semapv:ManualMappingCuration	2017-12-06
DOID:0112011	mutilating palmoplantar keratoderma with periorificial keratotic plaques	skos:exactMatch	MIM:PS614594	Olmsted syndrome 1	semapv:ManualMappingCuration	2021-03-03
DOID:0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques	skos:exactMatch	MIM:300918	?Olmsted syndrome, X-linked	semapv:ManualMappingCuration	2015-07-07
DOID:0112013	autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques	skos:exactMatch	MIM:614594	Olmsted syndrome 1	semapv:ManualMappingCuration	2014-09-09
DOID:0112014	congenital megabladder	skos:exactMatch	MIM:618719	Megabladder, congenital	semapv:ManualMappingCuration	2019-12-30
DOID:0112015	immunodeficiency 72	skos:exactMatch	MIM:618982	Immunodeficiency 72 with autoinflammation	semapv:ManualMappingCuration	2020-08-18
DOID:0112016	non-syndromic X-linked intellectual disability 2	skos:exactMatch	MIM:300428	Intellectual developmental disorder, X-linked 2	semapv:ManualMappingCuration	2017-10-03
DOID:0112017	non-syndromic X-linked intellectual disability 73	skos:exactMatch	MIM:300355	Intellectual developmental disorder, X-linked 73	semapv:ManualMappingCuration	2017-10-03
DOID:0112018	non-syndromic X-linked intellectual disability 104	skos:exactMatch	MIM:300983	Intellectual developmental disorder, X-linked 104	semapv:ManualMappingCuration	2017-05-08
DOID:0112019	non-syndromic X-linked intellectual disability 19	skos:exactMatch	MIM:300844	Intellectual developmental disorder, X-linked 19	semapv:ManualMappingCuration	2014-10-20
DOID:0112020	non-syndromic X-linked intellectual disability 103	skos:exactMatch	MIM:300982	Intellectual developmental disorder, X-linked 103	semapv:ManualMappingCuration	2017-05-08
DOID:0112021	non-syndromic X-linked intellectual disability ARX-related	skos:exactMatch	MIM:300419	Intellectual developmental disorder, X-linked 29	semapv:ManualMappingCuration	2017-10-03
DOID:0112022	non-syndromic X-linked intellectual disability 21	skos:exactMatch	MIM:300143	Intellectual developmental disorder, X-linked 21	semapv:ManualMappingCuration	2014-06-23
DOID:0112023	non-syndromic X-linked intellectual disability 20	skos:exactMatch	MIM:300047	Intellectual developmental disorder, X-linked 20	semapv:ManualMappingCuration	2017-10-03
DOID:0112024	non-syndromic X-linked intellectual disability 58	skos:exactMatch	MIM:300210	Intellectual developmental disorder, X-linked 58	semapv:ManualMappingCuration	2017-10-03
DOID:0112025	female-restricted syndromic X-linked intellectual disability 99	skos:exactMatch	MIM:300968	Intellectual developmental disorder, X-linked 99, syndromic, female-restricted	semapv:ManualMappingCuration	2016-04-14
DOID:0112026	non-syndromic X-linked intellectual disability 99	skos:exactMatch	MIM:300919	Intellectual developmental disorder, X-linked 99	semapv:ManualMappingCuration	2015-07-06
DOID:0112027	non-syndromic X-linked intellectual disability 14	skos:exactMatch	MIM:300062	Intellectual developmental disorder, X-linked 14	semapv:ManualMappingCuration	2017-10-03
DOID:0112028	non-syndromic X-linked intellectual disability 45	skos:exactMatch	MIM:300498	Intellectual developmental disorder, X-linked 45	semapv:ManualMappingCuration	2017-10-03
DOID:0112029	non-syndromic X-linked intellectual disability 50	skos:exactMatch	MIM:300115	Intellectual developmental disorder, X-linked 50	semapv:ManualMappingCuration	2017-10-03
DOID:0112030	non-syndromic X-linked intellectual disability 84	skos:exactMatch	MIM:300505	Intellectual developmental disorder, X-linked 84	semapv:ManualMappingCuration	2017-10-03
DOID:0112031	non-syndromic X-linked intellectual disability 89	skos:exactMatch	MIM:300848	Intellectual developmental disorder, X-linked 89	semapv:ManualMappingCuration	2018-08-22
DOID:0112032	non-syndromic X-linked intellectual disability 92	skos:exactMatch	MIM:300851	Intellectual developmental disorder, X-linked 92	semapv:ManualMappingCuration	2018-08-22
DOID:0112033	non-syndromic X-linked intellectual disability 81	skos:exactMatch	MIM:300433	Intellectual developmental disorder, X-linked 81	semapv:ManualMappingCuration	2017-10-03
DOID:0112034	non-syndromic X-linked intellectual disability 9	skos:exactMatch	MIM:309549	Intellectual developmental disorder, X-linked 9	semapv:ManualMappingCuration	2017-10-03
DOID:0112035	non-syndromic X-linked intellectual disability 96	skos:exactMatch	MIM:300802	Intellectual developmental disorder, X-linked 96	semapv:ManualMappingCuration	2014-06-23
DOID:0112036	non-syndromic X-linked intellectual disability 105	skos:exactMatch	MIM:300984	Intellectual developmental disorder, X-linked 105	semapv:ManualMappingCuration	2017-05-08
DOID:0112037	chromosome Xp11.22 duplication syndrome	skos:exactMatch	MIM:300705	Xp11.22 microduplication syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0112038	non-syndromic X-linked intellectual disability 1	skos:exactMatch	MIM:309530	Intellectual developmental disorder, X-linked 1	semapv:ManualMappingCuration	2017-10-03
DOID:0112039	non-syndromic X-linked intellectual disability 77	skos:exactMatch	MIM:300454	Intellectual developmental disorder, X-linked 77	semapv:ManualMappingCuration	2017-10-03
DOID:0112040	non-syndromic X-linked intellectual disability 100	skos:exactMatch	MIM:300923	Intellectual developmental disorder, X-linked 100	semapv:ManualMappingCuration	2017-10-10
DOID:0112041	non-syndromic X-linked intellectual disability 90	skos:exactMatch	MIM:300850	Intellectual developmental disorder, X-linked 90	semapv:ManualMappingCuration	2014-09-09
DOID:0112042	Tonne-Kalscheuer syndrome	skos:exactMatch	MIM:300978	Tonne-Kalscheuer syndrome	semapv:ManualMappingCuration	2017-05-08
DOID:0112043	non-syndromic X-linked intellectual disability 91	skos:exactMatch	MIM:300577	Intellectual developmental disorder, X-linked 91	semapv:ManualMappingCuration	2017-10-03
DOID:0112044	non-syndromic X-linked intellectual disability 98	skos:exactMatch	MIM:300912	Intellectual developmental disorder, X-linked 98	semapv:ManualMappingCuration	2014-09-02
DOID:0112045	non-syndromic X-linked intellectual disability 93	skos:exactMatch	MIM:300659	Intellectual developmental disorder, X-linked 93	semapv:ManualMappingCuration	2017-10-03
DOID:0112046	non-syndromic X-linked intellectual disability 97	skos:exactMatch	MIM:300803	Intellectual developmental disorder, X-linked 97	semapv:ManualMappingCuration	2014-10-20
DOID:0112047	non-syndromic X-linked intellectual disability 53	skos:exactMatch	MIM:300324	Intellectual developmental disorder, X-linked 53	semapv:ManualMappingCuration	2017-10-03
DOID:0112048	non-syndromic X-linked intellectual disability 101	skos:exactMatch	MIM:300928	?Intellectual developmental disorder, X-linked 101	semapv:ManualMappingCuration	2017-05-08
DOID:0112049	non-syndromic X-linked intellectual disability 23	skos:exactMatch	MIM:300046	Intellectual developmental disorder, X-linked 23	semapv:ManualMappingCuration	2017-10-03
DOID:0112050	non-syndromic X-linked intellectual disability 63	skos:exactMatch	MIM:300387	Intellectual developmental disorder, X-linked 63	semapv:ManualMappingCuration	2017-10-03
DOID:0112051	non-syndromic X-linked intellectual disability 30	skos:exactMatch	MIM:300558	Intellectual developmental disorder, X-linked 30	semapv:ManualMappingCuration	2017-10-03
DOID:0112052	non-syndromic X-linked intellectual disability 82	skos:exactMatch	MIM:300518	Intellectual developmental disorder, X-linked 82	semapv:ManualMappingCuration	2017-10-03
DOID:0112053	non-syndromic X-linked intellectual disability 88	skos:exactMatch	MIM:300852	Intellectual developmental disorder, X-linked 88	semapv:ManualMappingCuration	2018-06-11
DOID:0112054	non-syndromic X-linked intellectual disability 107	skos:exactMatch	MIM:301013	?Intellectual developmental disorder, X-linked 107	semapv:ManualMappingCuration	2018-08-15
DOID:0112055	non-syndromic X-linked intellectual disability 46	skos:exactMatch	MIM:300436	Intellectual developmental disorder, X-linked 46	semapv:ManualMappingCuration	2017-10-03
DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome	skos:exactMatch	MIM:300957	Intellectual developmental disorder, X-linked syndromic, Kumar type	semapv:ManualMappingCuration	2017-05-08
DOID:0112057	non-syndromic X-linked intellectual disability 42	skos:exactMatch	MIM:300372	Intellectual developmental disorder, X-linked 42	semapv:ManualMappingCuration	2017-10-03
DOID:0112058	non-syndromic X-linked intellectual disability 41	skos:exactMatch	MIM:300849	Intellectual developmental disorder, X-linked 41	semapv:ManualMappingCuration	2014-09-09
DOID:0112059	non-syndromic X-linked intellectual disability 72	skos:exactMatch	MIM:300271	Intellectual developmental disorder, X-linked 72	semapv:ManualMappingCuration	2017-10-03
DOID:0112060	Raynaud-Claes syndrome	skos:exactMatch	MIM:300114	Raynaud-Claes syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:0112061	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	skos:exactMatch	MIM:618986	Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia	semapv:ManualMappingCuration	2020-08-25
DOID:0112062	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	skos:exactMatch	MIM:618987	?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia	semapv:ManualMappingCuration	2020-08-25
DOID:0112063	X-Linked immunodeficiency 74	skos:exactMatch	MIM:301051	Immunodeficiency 74, COVID19-related, X-linked	semapv:ManualMappingCuration	2020-08-31
DOID:0112064	immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	skos:exactMatch	MIM:608203	Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis	semapv:ManualMappingCuration	2017-10-03
DOID:0112065	nuclear type mitochondrial complex I deficiency	skos:exactMatch	MIM:PS252010	Mitochondrial complex I deficiency, nuclear type 1	semapv:ManualMappingCuration	2020-10-16
DOID:0112066	nuclear type mitochondrial complex I deficiency 6	skos:exactMatch	MIM:618228	Mitochondrial complex I deficiency, nuclear type 6	semapv:ManualMappingCuration	2019-02-11
DOID:0112067	nuclear type mitochondrial complex I deficiency 25	skos:exactMatch	MIM:618246	Mitochondrial complex I deficiency, nuclear type 25	semapv:ManualMappingCuration	2019-02-08
DOID:0112068	nuclear type mitochondrial complex I deficiency 5	skos:exactMatch	MIM:618226	Mitochondrial complex I deficiency, nuclear type 5	semapv:ManualMappingCuration	2019-02-08
DOID:0112069	nuclear type mitochondrial complex I deficiency 22	skos:exactMatch	MIM:618243	Mitochondrial complex I deficiency, nuclear type 22	semapv:ManualMappingCuration	2019-02-11
DOID:0112070	nuclear type mitochondrial complex I deficiency 18	skos:exactMatch	MIM:618240	Mitochondrial complex I deficiency, nuclear type 18	semapv:ManualMappingCuration	2019-02-08
DOID:0112071	nuclear type mitochondrial complex I deficiency 31	skos:exactMatch	MIM:618251	Mitochondrial complex I deficiency, nuclear type 31	semapv:ManualMappingCuration	2019-02-11
DOID:0112072	nuclear type mitochondrial complex I deficiency 20	skos:exactMatch	MIM:611126	Mitochondrial complex I deficiency, nuclear type 20	semapv:ManualMappingCuration	2017-10-03
DOID:0112073	nuclear type mitochondrial complex I deficiency 9	skos:exactMatch	MIM:618232	Mitochondrial complex I deficiency, nuclear type 9	semapv:ManualMappingCuration	2019-02-11
DOID:0112074	nuclear type mitochondrial complex I deficiency 1	skos:exactMatch	MIM:252010	Mitochondrial complex I deficiency, nuclear type 1	semapv:ManualMappingCuration	2019-02-08
DOID:0112075	nuclear type mitochondrial complex I deficiency 10	skos:exactMatch	MIM:618233	Mitochondrial complex I deficiency, nuclear type 10	semapv:ManualMappingCuration	2019-02-08
DOID:0112076	nuclear type mitochondrial complex I deficiency 13	skos:exactMatch	MIM:618235	Mitochondrial complex I deficiency, nuclear type 13	semapv:ManualMappingCuration	2019-02-11
DOID:0112077	nuclear type mitochondrial complex I deficiency 15	skos:exactMatch	MIM:618237	Mitochondrial complex I deficiency, nuclear type 15	semapv:ManualMappingCuration	2019-02-11
DOID:0112078	nuclear type mitochondrial complex I deficiency 17	skos:exactMatch	MIM:618239	Mitochondrial complex I deficiency, nuclear type 17	semapv:ManualMappingCuration	2019-02-11
DOID:0112079	nuclear type mitochondrial complex I deficiency 24	skos:exactMatch	MIM:618245	?Mitochondrial complex I deficiency, nuclear type 24	semapv:ManualMappingCuration	2019-02-08
DOID:0112080	nuclear type mitochondrial complex I deficiency 32	skos:exactMatch	MIM:618252	Mitochondrial complex I deficiency, nuclear type 32	semapv:ManualMappingCuration	2019-02-11
DOID:0112081	nuclear type mitochondrial complex I deficiency 8	skos:exactMatch	MIM:618230	Mitochondrial complex I deficiency, nuclear type 8	semapv:ManualMappingCuration	2017-10-03
DOID:0112082	nuclear type mitochondrial complex I deficiency 4	skos:exactMatch	MIM:618225	Mitochondrial complex I deficiency, nuclear type 4	semapv:ManualMappingCuration	2018-04-13
DOID:0112083	nuclear type mitochondrial complex I deficiency 2	skos:exactMatch	MIM:618222	Mitochondrial complex I deficiency, nuclear type 2	semapv:ManualMappingCuration	2018-07-05
DOID:0112084	nuclear type mitochondrial complex I deficiency 29	skos:exactMatch	MIM:618250	Mitochondrial complex I deficiency, nuclear type 29	semapv:ManualMappingCuration	2019-02-11
DOID:0112085	nuclear type mitochondrial complex I deficiency 19	skos:exactMatch	MIM:618241	Mitochondrial complex I deficiency, nuclear type 19	semapv:ManualMappingCuration	2019-02-08
DOID:0112086	nuclear type mitochondrial complex I deficiency 26	skos:exactMatch	MIM:618247	Mitochondrial complex I deficiency, nuclear type 26	semapv:ManualMappingCuration	2019-02-08
DOID:0112087	nuclear type mitochondrial complex I deficiency 23	skos:exactMatch	MIM:618244	Mitochondrial complex I deficiency, nuclear type 23	semapv:ManualMappingCuration	2019-02-08
DOID:0112088	nuclear type mitochondrial complex I deficiency 21	skos:exactMatch	MIM:618242	Mitochondrial complex I deficiency, nuclear type 21	semapv:ManualMappingCuration	2019-02-08
DOID:0112089	nuclear type mitochondrial complex I deficiency 11	skos:exactMatch	MIM:618234	Mitochondrial complex I deficiency, nuclear type 11	semapv:ManualMappingCuration	2019-02-11
DOID:0112090	nuclear type mitochondrial complex I deficiency 27	skos:exactMatch	MIM:618248	Mitochondrial complex I deficiency, nuclear type 27	semapv:ManualMappingCuration	2019-02-11
DOID:0112091	nuclear type mitochondrial complex I deficiency 34	skos:exactMatch	MIM:618776	Mitochondrial complex I deficiency, nuclear type 34	semapv:ManualMappingCuration	2020-02-20
DOID:0112092	nuclear type mitochondrial complex I deficiency 7	skos:exactMatch	MIM:618229	Mitochondrial complex I deficiency, nuclear type 7	semapv:ManualMappingCuration	2018-08-21
DOID:0112093	nuclear type mitochondrial complex I deficiency 3	skos:exactMatch	MIM:618224	Mitochondrial complex I deficiency, nuclear type 3	semapv:ManualMappingCuration	2019-02-11
DOID:0112094	nuclear type mitochondrial complex I deficiency 14	skos:exactMatch	MIM:618236	Mitochondrial complex I deficiency, nuclear type 14	semapv:ManualMappingCuration	2019-02-11
DOID:0112095	nuclear type mitochondrial complex I deficiency 28	skos:exactMatch	MIM:618249	Mitochondrial complex I deficiency, nuclear type 28	semapv:ManualMappingCuration	2016-09-13
DOID:0112096	nuclear type mitochondrial complex I deficiency 16	skos:exactMatch	MIM:618238	Mitochondrial complex I deficiency, nuclear type 16	semapv:ManualMappingCuration	2019-02-08
DOID:0112097	nuclear type mitochondrial complex I deficiency 33	skos:exactMatch	MIM:618253	Mitochondrial complex I deficiency, nuclear type 33	semapv:ManualMappingCuration	2019-02-11
DOID:0112098	nuclear type mitochondrial complex I deficiency 30	skos:exactMatch	MIM:301021	?Mitochondrial complex I deficiency, nuclear type 30	semapv:ManualMappingCuration	2019-02-08
DOID:0112099	nuclear type mitochondrial complex I deficiency 12	skos:exactMatch	MIM:301020	Mitochondrial complex I deficiency, nuclear type 12	semapv:ManualMappingCuration	2018-06-12
DOID:0112101	mitochondrial type mitochondrial complex I deficiency 1	skos:exactMatch	MIM:500014	MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1	semapv:ManualMappingCuration	2020-10-17
DOID:0112102	Sotos syndrome 2	skos:exactMatch	MIM:614753	Malan syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:0112103	Sotos syndrome 1	skos:exactMatch	MIM:117550	Sotos syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0112104	Sotos syndrome 3	skos:exactMatch	MIM:617169	Intellectual developmental disorder, autosomal recessive 74	semapv:ManualMappingCuration	2017-04-18
DOID:0112105	X-linked parkinsonism-spasticity syndrome	skos:exactMatch	MIM:300911	?Parkinsonism with spasticity, X-linked	semapv:ManualMappingCuration	2014-09-02
DOID:0112106	chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	skos:exactMatch	MIM:300863	?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	semapv:ManualMappingCuration	2014-09-09
DOID:0112107	McLeod syndrome	skos:exactMatch	MIM:300842	McLeod syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0112108	myofibrillar myopathy 10	skos:exactMatch	MIM:619040	Myofibrillar myopathy 10	semapv:ManualMappingCuration	2020-10-13
DOID:0112109	spermatogenic failure 44	skos:exactMatch	MIM:619044	Spermatogenic failure 44	semapv:ManualMappingCuration	2020-10-13
DOID:0112110	combined oxidative phosphorylation deficiency 49	skos:exactMatch	MIM:619024	?Combined oxidative phosphorylation deficiency 49	semapv:ManualMappingCuration	2020-09-24
DOID:0112111	combined oxidative phosphorylation deficiency 50	skos:exactMatch	MIM:619025	?Combined oxidative phosphorylation deficiency 50	semapv:ManualMappingCuration	2020-09-24
DOID:0112112	combined oxidative phosphorylation deficiency 48	skos:exactMatch	MIM:619012	Combined oxidative phosphorylation deficiency 48	semapv:ManualMappingCuration	2020-09-18
DOID:0112113	combined oxidative phosphorylation deficiency 45	skos:exactMatch	MIM:618951	?Combined oxidative phosphorylation deficiency 45	semapv:ManualMappingCuration	2020-07-31
DOID:0112114	combined oxidative phosphorylation deficiency 47	skos:exactMatch	MIM:618958	?Combined oxidative phosphorylation deficiency 47	semapv:ManualMappingCuration	2020-07-31
DOID:0112115	combined oxidative phosphorylation deficiency 46	skos:exactMatch	MIM:618952	?Combined oxidative phosphorylation deficiency 46	semapv:ManualMappingCuration	2020-07-31
DOID:0112116	combined oxidative phosphorylation deficiency 43	skos:exactMatch	MIM:618851	?Combined oxidative phosphorylation deficiency 43	semapv:ManualMappingCuration	2020-04-27
DOID:0112117	combined oxidative phosphorylation deficiency 40	skos:exactMatch	MIM:618835	Combined oxidative phosphorylation deficiency 40	semapv:ManualMappingCuration	2020-04-13
DOID:0112118	combined oxidative phosphorylation deficiency 42	skos:exactMatch	MIM:618839	Combined oxidative phosphorylation deficiency 42	semapv:ManualMappingCuration	2020-05-15
DOID:0112119	combined oxidative phosphorylation deficiency 41	skos:exactMatch	MIM:618838	?Combined oxidative phosphorylation deficiency 41	semapv:ManualMappingCuration	2020-05-15
DOID:0112120	SHOX-related short stature	skos:exactMatch	MIM:300582	Short stature, idiopathic familial	semapv:ManualMappingCuration	2017-10-03
DOID:0112121	nephrogenic syndrome of inappropriate antidiuresis	skos:exactMatch	MIM:300539	Nephrogenic syndrome of inappropriate antidiuresis	semapv:ManualMappingCuration	2017-10-03
DOID:0112122	X-linked epilepsy with variable learning disabilities and behavior disorders	skos:exactMatch	MIM:300491	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	semapv:ManualMappingCuration	2017-10-03
DOID:0112123	deafness, dystonia, and cerebral hypomyelination	skos:exactMatch	MIM:300475	Deafness, dystonia, and cerebral hypomyelination	semapv:ManualMappingCuration	2017-10-03
DOID:0112124	X-linked retinitis pigmentosa and sinorespiratory infections	skos:exactMatch	MIM:300455	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	semapv:ManualMappingCuration	2017-10-03
DOID:0112125	alpha-thalassemia myelodysplasia syndrome	skos:exactMatch	MIM:300448	Alpha-thalassemia myelodysplasia syndrome, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:0112126	Stocco Dos Santos type X-linked intellectual disability	skos:exactMatch	MIM:300434	Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type	semapv:ManualMappingCuration	2017-10-03
DOID:0112127	HRPT-related hyperuricemia	skos:exactMatch	MIM:300323	Hyperuricemia, HRPT-related	semapv:ManualMappingCuration	2017-10-03
DOID:0112128	X-linked severe congenital neutropenia	skos:exactMatch	MIM:300299	Neutropenia, severe congenital, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0112129	severe congenital neutropenia 7	skos:exactMatch	MIM:617014	Neutropenia, severe congenital, 7, autosomal recessive	semapv:ManualMappingCuration	2017-03-30
DOID:0112131	severe congenital neutropenia 2	skos:exactMatch	MIM:613107	Neutropenia, severe congenital 2, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:0112132	severe congenital neutropenia 5	skos:exactMatch	MIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0112133	severe congenital neutropenia 3	skos:exactMatch	MIM:610738	Neutropenia, severe congenital 3, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0112134	severe congenital neutropenia 6	skos:exactMatch	MIM:616022	Neutropenia, severe congenital, 6, autosomal recessive	semapv:ManualMappingCuration	2015-06-18
DOID:0112135	severe congenital neutropenia 8	skos:exactMatch	MIM:618752	Neutropenia, severe congenital, 8, autosomal dominant	semapv:ManualMappingCuration	2020-02-03
DOID:0112136	severe congenital neutropenia 4	skos:exactMatch	MIM:612541	Neutropenia, severe congenital 4, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:0112137	combined oxidative phosphorylation deficiency 51	skos:exactMatch	MIM:619057	Combined oxidative phosphorylation deficiency 51	semapv:ManualMappingCuration	2020-10-22
DOID:0112138	primary coenzyme Q10 deficiency 9	skos:exactMatch	MIM:619028	?Coenzyme Q10 deficiency, primary, 9	semapv:ManualMappingCuration	2020-09-29
DOID:0112139	nuclear type mitochondrial complex I deficiency 35	skos:exactMatch	MIM:619003	?Mitochondrial complex I deficiency, nuclear type 35	semapv:ManualMappingCuration	2020-09-04
DOID:0112140	retinitis pigmentosa 83	skos:exactMatch	MIM:618173	Retinitis pigmentosa 83	semapv:ManualMappingCuration	2019-02-08
DOID:0112141	retinitis pigmentosa 84	skos:exactMatch	MIM:618220	Retinitis pigmentosa 84	semapv:ManualMappingCuration	2019-02-08
DOID:0112142	retinitis pigmentosa 85	skos:exactMatch	MIM:618345	?Retinitis pigmentosa 85	semapv:ManualMappingCuration	2019-03-05
DOID:0112143	retinitis pigmentosa 86	skos:exactMatch	MIM:618613	Retinitis pigmentosa 86	semapv:ManualMappingCuration	2019-10-04
DOID:0112144	retinitis pigmentosa 87	skos:exactMatch	MIM:618697	Retinitis pigmentosa 87 with choroidal involvement	semapv:ManualMappingCuration	2019-12-16
DOID:0112145	retinitis pigmentosa 88	skos:exactMatch	MIM:618826	Retinitis pigmentosa 88	semapv:ManualMappingCuration	2020-03-27
DOID:0112146	retinitis pigmentosa 89	skos:exactMatch	MIM:618955	Retinitis pigmentosa 89	semapv:ManualMappingCuration	2020-07-17
DOID:0112147	retinitis pigmentosa 90	skos:exactMatch	MIM:619007	Retinitis pigmentosa 90	semapv:ManualMappingCuration	2020-09-04
DOID:0112148	Uruguay faciocardiomusculoskeletal syndrome	skos:exactMatch	MIM:300280	?Uruguay faciocardiomusculoskeletal syndrome	semapv:ManualMappingCuration	2020-11-03
DOID:0112149	terminal osseous dysplasia	skos:exactMatch	MIM:300244	Terminal osseous dysplasia	semapv:ManualMappingCuration	2014-06-23
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia	skos:exactMatch	MIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	semapv:ManualMappingCuration	2017-10-10
DOID:0112151	corpus callosum agenesis-abnormal genitalia syndrome	skos:exactMatch	MIM:300004	Proud syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0112152	CHIME syndrome	skos:exactMatch	MIM:280000	CHIME syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:0112153	hypomyelinating leukodystrophy 20	skos:exactMatch	MIM:619071	?Leukodystrophy, hypomyelinating, 20	semapv:ManualMappingCuration	2020-11-06
DOID:0112154	inflammatory bowel disease 30	skos:exactMatch	MIM:619079	?Inflammatory bowel disease (Crohn disease) 30	semapv:ManualMappingCuration	2020-11-03
DOID:0112155	inflammatory bowel disease 29	skos:exactMatch	MIM:618077	{Inflammatory bowel disease 29}	semapv:ManualMappingCuration	2020-03-11
DOID:0112156	X-linked dyserythropoietic anemia	skos:exactMatch	MIM:300835	Anemia, X-linked, with/without neutropenia and/or platelet abnormalities	semapv:ManualMappingCuration	2014-09-02
DOID:0112157	X-linked atrophic macular degeneration	skos:exactMatch	MIM:300834	Macular degeneration, X-linked atrophic	semapv:ManualMappingCuration	2014-09-09
DOID:0112158	De Sanctis-Cacchione syndrome	skos:exactMatch	MIM:278800	?De Sanctis-Cacchione syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0112159	autosomal dominant nonsyndromic deafness 78	skos:exactMatch	MIM:619081	Deafness, autosomal dominant 78	semapv:ManualMappingCuration	2020-11-10
DOID:0112160	autosomal dominant nonsyndromic deafness 79	skos:exactMatch	MIM:619086	?Deafness, autosomal dominant 79	semapv:ManualMappingCuration	2020-11-10
DOID:0112161	Noonan syndrome 13	skos:exactMatch	MIM:619087	Noonan syndrome 13	semapv:ManualMappingCuration	2020-11-10
DOID:0112162	autosomal recessive nonsyndromic deafness 116	skos:exactMatch	MIM:619093	Deafness, autosomal recessive 116	semapv:ManualMappingCuration	2020-11-13
DOID:0112163	spermatogenic failure 45	skos:exactMatch	MIM:619094	Spermatogenic failure 45	semapv:ManualMappingCuration	2020-11-13
DOID:0112164	spermatogenic failure 46	skos:exactMatch	MIM:619095	Spermatogenic failure 46	semapv:ManualMappingCuration	2020-12-02
DOID:0112165	autosomal dominant nonsyndromic deafness 74	skos:exactMatch	MIM:618140	?Deafness, autosomal dominant 74	semapv:ManualMappingCuration	2018-11-06
DOID:0112166	autosomal dominant nonsyndromic deafness 75	skos:exactMatch	MIM:618778	?Deafness, autosomal dominant 75	semapv:ManualMappingCuration	2020-02-19
DOID:0112167	autosomal dominant nonsyndromic deafness 76	skos:exactMatch	MIM:618787	Deafness, autosomal dominant 76	semapv:ManualMappingCuration	2020-02-24
DOID:0112168	autosomal dominant nonsyndromic deafness 77	skos:exactMatch	MIM:618915	?Deafness, autosomal dominant 77	semapv:ManualMappingCuration	2020-06-22
DOID:0112169	Noonan syndrome 11	skos:exactMatch	MIM:618499	Noonan syndrome 11	semapv:ManualMappingCuration	2019-07-15
DOID:0112170	Noonan syndrome 12	skos:exactMatch	MIM:618624	Noonan syndrome 12	semapv:ManualMappingCuration	2019-10-16
DOID:0112171	wrinkly skin syndrome	skos:exactMatch	MIM:278250	Wrinkly skin syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0112173	combined deficiency of vitamin K-dependent clotting factors 1	skos:exactMatch	MIM:277450	Vitamin K-dependent clotting factors, combined deficiency of, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0112174	combined deficiency of vitamin K-dependent clotting factors 2	skos:exactMatch	MIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2	semapv:ManualMappingCuration	2014-06-23
DOID:0112175	spermatogenic failure 47	skos:exactMatch	MIM:619102	Spermatogenic failure 47	semapv:ManualMappingCuration	2020-11-18
DOID:0112176	spermatogenic failure 48	skos:exactMatch	MIM:619108	Spermatogenic failure 48	semapv:ManualMappingCuration	2020-11-23
DOID:0112178	Mayer-Rokitansky-Kuster-Hauser syndrome type 1	skos:exactMatch	MIM:277000	MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME	semapv:ManualMappingCuration	2014-06-23
DOID:0112179	Mayer-Rokitansky-Kuster-Hauser syndrome type 2	skos:exactMatch	MIM:601076	MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC SOMITE ANOMALIES	semapv:ManualMappingCuration	2020-12-22
DOID:0112180	urocanase deficiency	skos:exactMatch	MIM:276880	?Urocanase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0112181	Schinzel type phocomelia	skos:exactMatch	MIM:276820	Ulna and fibula, absence of, with severe limb deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0112182	mismatch repair cancer syndrome	skos:exactMatch	MIM:PS276300	Mismatch repair cancer syndrome 1	semapv:ManualMappingCuration	2020-11-30
DOID:0112184	thyroid dyshormonogenesis 5	skos:exactMatch	MIM:274900	Thyroid dyshormonogenesis 5	semapv:ManualMappingCuration	2017-10-03
DOID:0112185	thyroid dyshormonogenesis 1	skos:exactMatch	MIM:274400	Thyroid dyshormonogenesis 1	semapv:ManualMappingCuration	2017-10-03
DOID:0112186	thyroid dyshormonogenesis 2A	skos:exactMatch	MIM:274500	Thyroid dyshormonogenesis 2A	semapv:ManualMappingCuration	2017-10-03
DOID:0112187	thyroid dyshormonogenesis 3	skos:exactMatch	MIM:274700	Thyroid dyshormonogenesis 3	semapv:ManualMappingCuration	2017-10-03
DOID:0112188	thyroid dyshormonogenesis 4	skos:exactMatch	MIM:274800	Thyroid dyshormonogenesis 4	semapv:ManualMappingCuration	2017-10-03
DOID:0112189	thyroid dyshormonogenesis 6	skos:exactMatch	MIM:607200	Thyroid dyshormonogenesis 6	semapv:ManualMappingCuration	2017-10-03
DOID:0112190	distal arthrogryposis type 1C	skos:exactMatch	MIM:619110	Arthrogryposis, distal, type 1C	semapv:ManualMappingCuration	2020-12-02
DOID:0112191	tetraamelia syndrome	skos:exactMatch	MIM:PS273395	?Tetra-amelia syndrome 1	semapv:ManualMappingCuration	2024-07-23
DOID:0112192	tetraamelia syndrome 1	skos:exactMatch	MIM:273395	?Tetra-amelia syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:0112193	tetraamelia syndrome 2	skos:exactMatch	MIM:618021	Tetraamelia syndrome 2	semapv:ManualMappingCuration	2019-06-04
DOID:0112194	Filippi syndrome	skos:exactMatch	MIM:272440	Filippi syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0112195	spondyloperipheral dysplasia	skos:exactMatch	MIM:271700	Spondyloperipheral dysplasia	semapv:ManualMappingCuration	2014-06-23
DOID:0112196	spondylometaepiphyseal dysplasia, short limb-hand type	skos:exactMatch	MIM:271665	Spondylometaepiphyseal dysplasia, short limb-hand type	semapv:ManualMappingCuration	2017-10-03
DOID:0112197	spondyloepimetaphyseal dysplasia with joint laxity	skos:exactMatch	MIM:PS271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	semapv:ManualMappingCuration	2014-10-20
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1	skos:exactMatch	MIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	semapv:ManualMappingCuration	2014-10-20
DOID:0112199	spondyloepimetaphyseal dysplasia with joint laxity type 2	skos:exactMatch	MIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	semapv:ManualMappingCuration	2014-10-20
DOID:0112200	spondyloepimetaphyseal dysplasia with joint laxity type 3	skos:exactMatch	MIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	semapv:ManualMappingCuration	2019-04-30
DOID:0112201	osteogenesis imperfecta type 21	skos:exactMatch	MIM:619131	Osteogenesis imperfecta, type XXI	semapv:ManualMappingCuration	2020-12-21
DOID:0112202	developmental and epileptic encephalopathy	skos:exactMatch	MIM:PS308350	Developmental and epileptic encephalopathy 1	semapv:ManualMappingCuration	2021-01-28
DOID:0112203	developmental and epileptic encephalopathy 67	skos:exactMatch	MIM:618141	Developmental and epileptic encephalopathy 67	semapv:ManualMappingCuration	2019-01-14
DOID:0112204	developmental and epileptic encephalopathy 68	skos:exactMatch	MIM:618201	Developmental and epileptic encephalopathy 68	semapv:ManualMappingCuration	2019-01-14
DOID:0112205	developmental and epileptic encephalopathy 69	skos:exactMatch	MIM:618285	Developmental and epileptic encephalopathy 69	semapv:ManualMappingCuration	2019-02-12
DOID:0112206	developmental and epileptic encephalopathy 70	skos:exactMatch	MIM:618298	Developmental and epileptic encephalopathy 70	semapv:ManualMappingCuration	2018-01-15
DOID:0112207	developmental and epileptic encephalopathy 71	skos:exactMatch	MIM:618328	Developmental and epileptic encephalopathy 71	semapv:ManualMappingCuration	
DOID:0112208	developmental and epileptic encephalopathy 72	skos:exactMatch	MIM:618374	Developmental and epileptic encephalopathy 72	semapv:ManualMappingCuration	2019-04-10
DOID:0112209	developmental and epileptic encephalopathy 73	skos:exactMatch	MIM:618379	Developmental and epileptic encephalopathy 73	semapv:ManualMappingCuration	2019-04-10
DOID:0112210	developmental and epileptic encephalopathy 74	skos:exactMatch	MIM:618396	Developmental and epileptic encephalopathy 74	semapv:ManualMappingCuration	2019-04-19
DOID:0112211	developmental and epileptic encephalopathy 75	skos:exactMatch	MIM:618437	Developmental and epileptic encephalopathy 75	semapv:ManualMappingCuration	2019-06-11
DOID:0112212	developmental and epileptic encephalopathy 76	skos:exactMatch	MIM:618468	Developmental and epileptic encephalopathy 76	semapv:ManualMappingCuration	2019-06-25
DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4	skos:exactMatch	MIM:618548	Multiple congenital anomalies-hypotonia-seizures syndrome 4	semapv:ManualMappingCuration	2019-09-03
DOID:0112214	developmental and epileptic encephalopathy 78	skos:exactMatch	MIM:618557	Developmental and epileptic encephalopathy 78	semapv:ManualMappingCuration	2019-09-05
DOID:0112215	developmental and epileptic encephalopathy 79	skos:exactMatch	MIM:618559	Developmental and epileptic encephalopathy 79	semapv:ManualMappingCuration	2019-09-05
DOID:0112216	developmental and epileptic encephalopathy 80	skos:exactMatch	MIM:618580	Developmental and epileptic encephalopathy 80	semapv:ManualMappingCuration	2019-09-16
DOID:0112217	developmental and epileptic encephalopathy 81	skos:exactMatch	MIM:618663	Developmental and epileptic encephalopathy 81	semapv:ManualMappingCuration	2019-11-21
DOID:0112218	developmental and epileptic encephalopathy 83	skos:exactMatch	MIM:618744	Developmental and epileptic encephalopathy 83	semapv:ManualMappingCuration	2020-01-27
DOID:0112219	developmental and epileptic encephalopathy 84	skos:exactMatch	MIM:618792	Developmental and epileptic encephalopathy 84	semapv:ManualMappingCuration	2020-02-27
DOID:0112220	developmental and epileptic encephalopathy 86	skos:exactMatch	MIM:618910	?Developmental and epileptic encephalopathy 86	semapv:ManualMappingCuration	2020-06-19
DOID:0112221	developmental and epileptic encephalopathy 87	skos:exactMatch	MIM:618916	Developmental and epileptic encephalopathy 87	semapv:ManualMappingCuration	2020-06-26
DOID:0112222	developmental and epileptic encephalopathy 88	skos:exactMatch	MIM:618959	?Developmental and epileptic encephalopathy 88	semapv:ManualMappingCuration	2020-07-22
DOID:0112223	developmental and epileptic encephalopathy 89	skos:exactMatch	MIM:619124	Developmental and epileptic encephalopathy 89	semapv:ManualMappingCuration	2020-12-21
DOID:0112224	chondrodysplasia with joint dislocations gPAPP type	skos:exactMatch	MIM:614078	Chondrodysplasia with joint dislocations, GPAPP type	semapv:ManualMappingCuration	2014-09-09
DOID:0112225	BH4-deficient hyperphenylalaninemia B	skos:exactMatch	MIM:233910	Hyperphenylalaninemia, BH4-deficient, B	semapv:ManualMappingCuration	2017-10-03
DOID:0112226	Bosch-Boonstra-Schaaf optic atrophy syndrome	skos:exactMatch	MIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:0112228	lissencephaly 9 with complex brainstem malformation	skos:exactMatch	MIM:618325	Lissencephaly 9 with complex brainstem malformation	semapv:ManualMappingCuration	2019-02-18
DOID:0112229	lissencephaly 10	skos:exactMatch	MIM:618873	Lissencephaly 10	semapv:ManualMappingCuration	2020-05-11
DOID:0112230	lissencephaly 5	skos:exactMatch	MIM:615191	Lissencephaly 5	semapv:ManualMappingCuration	2014-09-09
DOID:0112231	lissencephaly 7 with cerebellar hypoplasia	skos:exactMatch	MIM:616342	?Lissencephaly 7 with cerebellar hypoplasia	semapv:ManualMappingCuration	2017-05-02
DOID:0112232	lissencephaly 3	skos:exactMatch	MIM:611603	Lissencephaly 3	semapv:ManualMappingCuration	2017-10-03
DOID:0112233	lissencephaly 8	skos:exactMatch	MIM:617255	Lissencephaly 8	semapv:ManualMappingCuration	2017-05-02
DOID:0112235	lissencephaly 4	skos:exactMatch	MIM:614019	Lissencephaly 4 (with microcephaly)	semapv:ManualMappingCuration	2014-09-09
DOID:0112236	lissencephaly 6	skos:exactMatch	MIM:616212	Lissencephaly 6, with microcephaly	semapv:ManualMappingCuration	2017-05-02
DOID:0112237	lissencephaly 1	skos:exactMatch	MIM:607432	Subcortical laminar heterotopia	semapv:ManualMappingCuration	2017-10-03
DOID:0112238	X-linked lissencephaly 2	skos:exactMatch	MIM:300215	Lissencephaly, X-linked 2	semapv:ManualMappingCuration	2017-10-03
DOID:0112239	X-linked lissencephaly 1	skos:exactMatch	MIM:300067	Lissencephaly, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:0112240	Leber congenital amaurosis with early-onset deafness	skos:exactMatch	MIM:617879	Leber congenital amaurosis with early-onset deafness	semapv:ManualMappingCuration	2018-03-12
DOID:0112241	multiple benign circumferential skin creases on limbs	skos:exactMatch	MIM:PS156610	Symmetric circumferential skin creases, congenital, 1	semapv:ManualMappingCuration	2019-05-16
DOID:0112242	congenital symmetric circumferential skin creases 1	skos:exactMatch	MIM:156610	Symmetric circumferential skin creases, congenital, 1	semapv:ManualMappingCuration	2016-02-11
DOID:0112243	congenital symmetric circumferential skin creases 2	skos:exactMatch	MIM:616734	Symmetric circumferential skin creases, congenital, 2	semapv:ManualMappingCuration	2016-02-11
DOID:0112244	alopecia, neurologic defects, and endocrinopathy syndrome	skos:exactMatch	MIM:612079	?Alopecia, neurologic defects, and endocrinopathy syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0112245	focal segmental glomerulosclerosis 3	skos:exactMatch	MIM:607832	Glomerulosclerosis, focal segmental, 3	semapv:ManualMappingCuration	
DOID:0112246	glutaric acidemia type 3	skos:exactMatch	MIM:231690	Glutaric aciduria III	semapv:ManualMappingCuration	2017-10-10
DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	skos:exactMatch	MIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	semapv:ManualMappingCuration	2017-06-14
DOID:0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency	skos:exactMatch	MIM:264300	Pseudohermaphroditism, male, with gynecomastia	semapv:ManualMappingCuration	2017-10-03
DOID:0112249	GAPO syndrome	skos:exactMatch	MIM:230740	GAPO syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:0112250	Gaucher's disease type IIIC	skos:exactMatch	MIM:231005	Gaucher disease, type IIIC	semapv:ManualMappingCuration	2017-10-03
DOID:0112251	Ghosal hematodiaphyseal syndrome	skos:exactMatch	MIM:231095	Ghosal hematodiaphyseal syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0112252	glutathione synthetase deficiency of erythrocytes	skos:exactMatch	MIM:231900	ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 6	semapv:ManualMappingCuration	2017-10-03
DOID:0112253	combined cellular and humoral immune defects with granulomas	skos:exactMatch	MIM:233650	Combined cellular and humoral immune defects with granulomas	semapv:ManualMappingCuration	2017-10-03
DOID:0112254	hepatic venoocclusive disease with immunodeficiency	skos:exactMatch	MIM:235550	Hepatic venoocclusive disease with immunodeficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0112255	homocystinuria-megaloblastic anemia cblE type	skos:exactMatch	MIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	semapv:ManualMappingCuration	2017-10-03
DOID:0112257	hydroxykynureninuria	skos:exactMatch	MIM:236800	?Hydroxykynureninuria	semapv:ManualMappingCuration	2017-10-03
DOID:0112258	N-acetylglutamate synthase deficiency	skos:exactMatch	MIM:237310	N-acetylglutamate synthase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:0112259	Leydig cell hypoplasia	skos:exactMatch	MIM:238320	Luteinizing hormone resistance, female	semapv:ManualMappingCuration	2017-10-03
DOID:0112262	leucine-sensitive hypoglycemia of infancy	skos:exactMatch	MIM:240800	Hypoglycemia of infancy, leucine-sensitive	semapv:ManualMappingCuration	2017-10-03
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy	skos:exactMatch	MIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	semapv:ManualMappingCuration	2014-09-09
DOID:0112264	Woodhouse-Sakati syndrome	skos:exactMatch	MIM:241080	Woodhouse-Sakati syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:0112265	iminoglycinuria	skos:exactMatch	MIM:242600	[Iminoglycinuria]	semapv:ManualMappingCuration	2017-10-03
DOID:0112266	nephrotic syndrome type 23	skos:exactMatch	MIM:619201	Nephrotic syndrome, type 23	semapv:ManualMappingCuration	2021-03-03
DOID:0112267	nephrotic syndrome type 21	skos:exactMatch	MIM:618594	Nephrotic syndrome, type 21	semapv:ManualMappingCuration	2019-09-26
DOID:0112268	nephrotic syndrome type 22	skos:exactMatch	MIM:619155	Nephrotic syndrome, type 22	semapv:ManualMappingCuration	2021-01-26
DOID:0112269	primary ovarian insufficiency 18	skos:exactMatch	MIM:619203	?Premature ovarian failure 18	semapv:ManualMappingCuration	2021-02-24
DOID:0112270	spermatogenic failure 52	skos:exactMatch	MIM:619202	Spermatogenic failure 52	semapv:ManualMappingCuration	2021-02-18
DOID:0112271	spermatogenic failure 49	skos:exactMatch	MIM:619144	Spermatogenic failure 49	semapv:ManualMappingCuration	2021-01-04
DOID:0112272	spermatogenic failure 50	skos:exactMatch	MIM:619145	Spermatogenic failure 50	semapv:ManualMappingCuration	2021-01-04
DOID:0112273	spermatogenic failure 51	skos:exactMatch	MIM:619177	Spermatogenic failure 51	semapv:ManualMappingCuration	2021-02-09
DOID:0112274	X-linked spermatogenic failure 3	skos:exactMatch	MIM:301059	Spermatogenic failure, X-linked 3	semapv:ManualMappingCuration	2021-02-18
DOID:0112275	developmental and epileptic encephalopathy 93	skos:exactMatch	MIM:618012	Developmental and epileptic encephalopathy 93	semapv:ManualMappingCuration	2018-11-06
DOID:0112276	neurodevelopmental disorder with involuntary movements	skos:exactMatch	MIM:617493	Neurodevelopmental disorder with involuntary movements	semapv:ManualMappingCuration	2017-07-12
DOID:0112277	immunodeficiency 79	skos:exactMatch	MIM:619238	Immunodeficiency 79	semapv:ManualMappingCuration	2021-04-29
DOID:0112278	primary ovarian insufficiency 19	skos:exactMatch	MIM:619245	Premature ovarian failure 19	semapv:ManualMappingCuration	2021-03-23
DOID:0112279	spermatogenic failure 53	skos:exactMatch	MIM:619258	Spermatogenic failure 53	semapv:ManualMappingCuration	2021-04-05
DOID:0112281	spondyloepiphyseal dysplasia Stanescu type	skos:exactMatch	MIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	semapv:ManualMappingCuration	2017-04-19
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type	skos:exactMatch	MIM:608361	?Spondyloepiphyseal dysplasia, Kimberley type	semapv:ManualMappingCuration	2017-10-03
DOID:0112283	spondyloepiphyseal dysplasia Kondo-Fu type	skos:exactMatch	MIM:618392	?Spondyloepiphyseal dysplasia, Kondo-Fu type	semapv:ManualMappingCuration	2019-09-09
DOID:0112285	autosomal dominant spondyloepiphyseal dysplasia tarda	skos:exactMatch	MIM:184100	Spondyloepiphyseal dysplasia tarda, autosomal dominant	semapv:ManualMappingCuration	2021-04-29
DOID:0112286	spondyloepiphyseal dysplasia with punctate corneal dystrophy	skos:exactMatch	MIM:183850	SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY	semapv:ManualMappingCuration	2021-04-29
DOID:0112287	spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	skos:exactMatch	MIM:611717	SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH	semapv:ManualMappingCuration	2021-04-29
DOID:0112288	spondyloepiphyseal dysplasia Nishimura type	skos:exactMatch	MIM:618618	Spondyloepiphyseal dysplasia, Nishimura type	semapv:ManualMappingCuration	2019-10-10
DOID:0112289	spondyloepiphyseal dysplasia tarda with characteristic facies	skos:exactMatch	MIM:600093	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES	semapv:ManualMappingCuration	2021-04-29
DOID:0112290	spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis	skos:exactMatch	MIM:619260	Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis	semapv:ManualMappingCuration	2021-04-13
DOID:0112291	autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type	skos:exactMatch	MIM:609223	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER TYPE	semapv:ManualMappingCuration	2021-04-29
DOID:0112292	spondyloepiphyseal dysplasia tarda with intellectual disability	skos:exactMatch	MIM:271620	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	2021-04-29
DOID:0112293	autosomal recessive spondyloepiphyseal dysplasia tarda	skos:exactMatch	MIM:271600	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	2021-04-29
DOID:0112294	spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability	skos:exactMatch	MIM:602611	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CORONAL CRANIOSYNOSTOSIS, CATARACTS, CLEFT PALATE, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:0112295	spondylometaphyseal dysplasia	skos:exactMatch	MIM:PS184255	Spondylometaphyseal dysplasia, corner fracture type	semapv:ManualMappingCuration	2021-04-27
DOID:0112296	spondylometaphyseal dysplasia Algerian type	skos:exactMatch	MIM:184253	SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE	semapv:ManualMappingCuration	
DOID:0112297	spondylometaphyseal dysplasia corner fracture type	skos:exactMatch	MIM:184255	Spondylometaphyseal dysplasia, corner fracture type	semapv:ManualMappingCuration	2018-09-17
DOID:0112298	spondylometaphyseal dysplasia Sedaghatian type	skos:exactMatch	MIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	semapv:ManualMappingCuration	2017-10-10
DOID:0112299	axial spondylometaphyseal dysplasia	skos:exactMatch	MIM:602271	Spondylometaphyseal dysplasia, axial	semapv:ManualMappingCuration	
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy	skos:exactMatch	MIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	semapv:ManualMappingCuration	2014-10-20
DOID:0112301	spondylometaphyseal dysplasia type A4	skos:exactMatch	MIM:609052	SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4	semapv:ManualMappingCuration	
DOID:0112302	spondylometaphyseal dysplasia East African type	skos:exactMatch	MIM:611702	SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE	semapv:ManualMappingCuration	2021-04-29
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy	skos:exactMatch	MIM:618961	Spondylometaphyseal dysplasia with corneal dystrophy	semapv:ManualMappingCuration	2020-07-23
DOID:0112304	spondylometaphyseal dysplasia Megarbane-Dagher-Melike type	skos:exactMatch	MIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type	semapv:ManualMappingCuration	2016-09-13
DOID:0112305	spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism	skos:exactMatch	MIM:607543	SPONDYLOMETAPHYSEAL DYSPLASIA WITH BOWED FOREARMS AND FACIAL DYSMORPHISM	semapv:ManualMappingCuration	2021-04-29
DOID:0112306	Mahvash disease	skos:exactMatch	MIM:619290	Mahvash disease	semapv:ManualMappingCuration	2021-05-28
DOID:0112307	sarcosinemia	skos:exactMatch	MIM:268900	[Sarcosinemia]	semapv:ManualMappingCuration	2017-10-03
DOID:0112309	central precocious puberty 2	skos:exactMatch	MIM:615346	Precocious puberty, central, 2	semapv:ManualMappingCuration	2014-09-09
DOID:0112310	central precocious puberty 1	skos:exactMatch	MIM:176400	?Precocious puberty, central, 1	semapv:ManualMappingCuration	2017-10-03
DOID:0112313	brain small vessel disease	skos:exactMatch	MIM:PS175780	Brain small vessel disease with or without ocular anomalies	semapv:ManualMappingCuration	2019-09-11
DOID:0112314	brain small vessel disease 2	skos:exactMatch	MIM:614483	Brain small vessel disease 2	semapv:ManualMappingCuration	2014-09-09
DOID:0112315	brain small vessel disease 3	skos:exactMatch	MIM:618360	Brain small vessel disease 3	semapv:ManualMappingCuration	2019-09-10
DOID:0112316	methemoglobinemia and ambiguous genitalia	skos:exactMatch	MIM:250790	Methemoglobinemia and ambiguous genitalia	semapv:ManualMappingCuration	2017-10-03
DOID:0112318	Schindler disease type 1	skos:exactMatch	MIM:609241	Schindler disease, type I	semapv:ManualMappingCuration	2017-10-03
DOID:0112319	Kanzaki disease	skos:exactMatch	MIM:609242	Kanzaki disease	semapv:ManualMappingCuration	2017-10-03
DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome	skos:exactMatch	MIM:615510	Alacrima, achalasia, and impaired intellectual development syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:0112323	pontocerebellar hypoplasia type 1D	skos:exactMatch	MIM:618065	Pontocerebellar hypoplasia, type 1D	semapv:ManualMappingCuration	2018-09-14
DOID:0112324	pontocerebellar hypoplasia type 11	skos:exactMatch	MIM:617695	Pontocerebellar hypoplasia, type 11	semapv:ManualMappingCuration	2017-12-07
DOID:0112325	pontocerebellar hypoplasia type 14	skos:exactMatch	MIM:619301	Pontocerebellar hypoplasia, type 14	semapv:ManualMappingCuration	2021-05-03
DOID:0112326	pontocerebellar hypoplasia type 15	skos:exactMatch	MIM:619302	?Pontocerebellar hypoplasia, type 15	semapv:ManualMappingCuration	2021-05-03
DOID:0112327	pontocerebellar hypoplasia type 12	skos:exactMatch	MIM:618266	Pontocerebellar hypoplasia, type 12	semapv:ManualMappingCuration	2019-02-12
DOID:0112329	pontocerebellar hypoplasia type 2F	skos:exactMatch	MIM:617026	Pontocerebellar hypoplasia, type 2F	semapv:ManualMappingCuration	2017-03-30
DOID:0112330	pontocerebellar hypoplasia type 1E	skos:exactMatch	MIM:619303	Pontocerebellar hypoplasia, type 1E	semapv:ManualMappingCuration	2021-05-07
DOID:0112331	pontocerebellar hypoplasia type 1F	skos:exactMatch	MIM:619304	?Pontocerebellar hypoplasia, type 1F	semapv:ManualMappingCuration	2021-05-07
DOID:0112332	pontocerebellar hypoplasia type 13	skos:exactMatch	MIM:618606	Pontocerebellar hypoplasia, type 13	semapv:ManualMappingCuration	2019-10-03
DOID:0112333	pontocerebellar hypoplasia type 16	skos:exactMatch	MIM:619527	Pontocerebellar hypoplasia, type 16	semapv:ManualMappingCuration	2021-10-01
DOID:0112334	pontocerebellar hypoplasia type 1C	skos:exactMatch	MIM:616081	Pontocerebellar hypoplasia, type 1C	semapv:ManualMappingCuration	2017-03-30
DOID:0112335	spermatogenic failure 54	skos:exactMatch	MIM:619379	?Spermatogenic failure 54	semapv:ManualMappingCuration	2021-06-23
DOID:0112336	spermatogenic failure 56	skos:exactMatch	MIM:619515	Spermatogenic failure 56	semapv:ManualMappingCuration	2021-09-01
DOID:0112337	spermatogenic failure 55	skos:exactMatch	MIM:619380	?Spermatogenic failure 55	semapv:ManualMappingCuration	2021-06-23
DOID:0112338	spermatogenic failure 57	skos:exactMatch	MIM:619528	Spermatogenic failure 57	semapv:ManualMappingCuration	2021-09-16
DOID:0112339	Tatton-Brown-Rahman syndrome	skos:exactMatch	MIM:615879	Tatton-Brown-Rahman syndrome	semapv:ManualMappingCuration	2017-04-19
DOID:0112340	craniotubular dysplasia Ikegawa type	skos:exactMatch	MIM:619727	Craniotubular dysplasia, Ikegawa type	semapv:ManualMappingCuration	2022-03-07
DOID:0112341	hereditary spastic paraplegia 80	skos:exactMatch	MIM:618418	Spastic paraplegia 80, autosomal dominant	semapv:ManualMappingCuration	2019-09-09
DOID:0112342	hereditary spastic paraplegia 86	skos:exactMatch	MIM:619735	Spastic paraplegia 86, autosomal recessive	semapv:ManualMappingCuration	2022-02-10
DOID:0112343	hereditary spastic paraplegia 82	skos:exactMatch	MIM:618770	Spastic paraplegia 82, autosomal recessive	semapv:ManualMappingCuration	2020-02-17
DOID:0112344	hereditary spastic paraplegia 79B	skos:exactMatch	MIM:615491	Spastic paraplegia 79B, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:0112345	hereditary spastic paraplegia 85	skos:exactMatch	MIM:619686	Spastic paraplegia 85, autosomal recessive	semapv:ManualMappingCuration	2022-01-06
DOID:0112346	hereditary spastic paraplegia 83	skos:exactMatch	MIM:619027	Spastic paraplegia 83, autosomal recessive	semapv:ManualMappingCuration	2020-10-02
DOID:0112347	hereditary spastic paraplegia 84	skos:exactMatch	MIM:619621	Spastic paraplegia 84, autosomal recessive	semapv:ManualMappingCuration	2021-11-30
DOID:0112348	hereditary spastic paraplegia 78	skos:exactMatch	MIM:617225	Spastic paraplegia 78, autosomal recessive	semapv:ManualMappingCuration	2017-04-06
DOID:0112349	hereditary spastic paraplegia 81	skos:exactMatch	MIM:618768	Spastic paraplegia 81, autosomal recessive	semapv:ManualMappingCuration	2020-02-17
DOID:0112350	spermatogenic failure 61	skos:exactMatch	MIM:619672	Spermatogenic failure 61	semapv:ManualMappingCuration	2021-12-22
DOID:0112351	spermatogenic failure 62	skos:exactMatch	MIM:619673	?Spermatogenic failure 62	semapv:ManualMappingCuration	2021-12-22
DOID:0112352	spermatogenic failure 58	skos:exactMatch	MIM:619585	Spermatogenic failure 58	semapv:ManualMappingCuration	2021-11-03
DOID:0112353	spermatogenic failure 64	skos:exactMatch	MIM:619696	Spermatogenic failure 64	semapv:ManualMappingCuration	2022-01-07
DOID:0112354	spermatogenic failure 65	skos:exactMatch	MIM:619712	Spermatogenic failure 65	semapv:ManualMappingCuration	2022-01-20
DOID:0112355	spermatogenic failure 60	skos:exactMatch	MIM:619646	Spermatogenic failure 60	semapv:ManualMappingCuration	2021-12-07
DOID:0112356	spermatogenic failure 63	skos:exactMatch	MIM:619689	?Spermatogenic failure 63	semapv:ManualMappingCuration	2022-01-05
DOID:0112357	spermatogenic failure 59	skos:exactMatch	MIM:619645	?Spermatogenic failure 59	semapv:ManualMappingCuration	2021-12-07
DOID:0112358	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	skos:exactMatch	MIM:619184	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	semapv:ManualMappingCuration	2021-02-16
DOID:0112359	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	skos:exactMatch	MIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	semapv:ManualMappingCuration	2017-12-01
DOID:0112360	spondylocostal dysostosis 6	skos:exactMatch	MIM:616566	?Spondylocostal dysostosis 6	semapv:ManualMappingCuration	2017-02-08
DOID:0112361	spondylocostal dysostosis 3	skos:exactMatch	MIM:609813	Spondylocostal dysostosis 3, autosomal recessive	semapv:ManualMappingCuration	2017-10-10
DOID:0112362	spondylocostal dysostosis 2	skos:exactMatch	MIM:608681	Spondylocostal dysostosis 2, autosomal recessive	semapv:ManualMappingCuration	2017-10-10
DOID:0112363	spondylocostal dysostosis 5	skos:exactMatch	MIM:122600	Spondylocostal dysostosis 5	semapv:ManualMappingCuration	2014-06-23
DOID:0112364	spondylocostal dysostosis 4	skos:exactMatch	MIM:613686	Spondylocostal dysostosis 4, autosomal recessive	semapv:ManualMappingCuration	2017-10-10
DOID:0112365	spondylocostal dysostosis 1	skos:exactMatch	MIM:277300	Spondylocostal dysostosis 1, autosomal recessive	semapv:ManualMappingCuration	2018-07-03
DOID:0112367	Coffin-Siris syndrome 8	skos:exactMatch	MIM:618362	Coffin-Siris syndrome 8	semapv:ManualMappingCuration	2019-03-20
DOID:0112368	Coffin-Siris syndrome 5	skos:exactMatch	MIM:616938	Coffin-Siris syndrome 5	semapv:ManualMappingCuration	2018-01-12
DOID:0112369	Coffin-Siris syndrome 7	skos:exactMatch	MIM:618027	Coffin-Siris syndrome 7	semapv:ManualMappingCuration	2018-07-10
DOID:0112370	Coffin-Siris syndrome 12	skos:exactMatch	MIM:619325	Coffin-Siris syndrome 12	semapv:ManualMappingCuration	2021-05-21
DOID:0112371	Coffin-Siris syndrome 10	skos:exactMatch	MIM:618506	Coffin-Siris syndrome 10	semapv:ManualMappingCuration	2019-07-17
DOID:0112372	Coffin-Siris syndrome 11	skos:exactMatch	MIM:618779	Coffin-Siris syndrome 11	semapv:ManualMappingCuration	2020-02-20
DOID:0112373	autosomal dominant auditory neuropathy 3	skos:exactMatch	MIM:619832	Auditory neuropathy, autosomal dominant 3	semapv:ManualMappingCuration	2022-04-11
DOID:0112375	muscular dystrophy-dystroglycanopathy type B	skos:exactMatch	MIM:PS613155	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1	semapv:ManualMappingCuration	2022-06-03
DOID:0112376	muscular dystrophy-dystroglycanopathy type B15	skos:exactMatch	MIM:618992	?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15	semapv:ManualMappingCuration	2020-08-31
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14	skos:exactMatch	MIM:615351	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14	semapv:ManualMappingCuration	2014-09-09
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3	skos:exactMatch	MIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3	semapv:ManualMappingCuration	2014-06-23
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4	skos:exactMatch	MIM:613152	Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4	semapv:ManualMappingCuration	2014-06-23
DOID:0112380	muscular dystrophy-dystroglycanopathy type B2	skos:exactMatch	MIM:613156	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2	semapv:ManualMappingCuration	2014-06-23
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12	skos:exactMatch	MIM:616094	?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	semapv:ManualMappingCuration	2017-10-10
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8	skos:exactMatch	MIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8	semapv:ManualMappingCuration	2018-11-09
DOID:0112383	KINSSHIP syndrome	skos:exactMatch	MIM:619297	KINSSHIP syndrome	semapv:ManualMappingCuration	2021-06-18
DOID:10016	multiple endocrine neoplasia type 2B	skos:exactMatch	MIM:162300	Multiple endocrine neoplasia IIB	semapv:ManualMappingCuration	2017-10-03
DOID:10017	multiple endocrine neoplasia type 1	skos:exactMatch	MIM:131100	Multiple endocrine neoplasia 1	semapv:ManualMappingCuration	2017-10-03
DOID:10024	migraine with aura	skos:exactMatch	MIM:609179	{Migraine with aura, susceptibility to, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:10024	migraine with aura	skos:exactMatch	MIM:609670	{Migraine with aura, susceptibility to, 9}	semapv:ManualMappingCuration	2017-10-03
DOID:10122	hyperpigmentation of eyelid	skos:exactMatch	MIM:145100	HYPERPIGMENTATION OF EYELIDS	semapv:ManualMappingCuration	2018-06-27
DOID:10123	pigmentation disease	skos:exactMatch	MIM:PS227220	[Skin/hair/eye pigmentation 1, blond/brown hair]	semapv:ManualMappingCuration	2019-03-27
DOID:10126	keratoconus	skos:exactMatch	MIM:PS148300	Keratoconus 1	semapv:ManualMappingCuration	2019-03-27
DOID:10159	osteonecrosis	skos:exactMatch	MIM:PS608805	Avascular necrosis of the femoral head	semapv:ManualMappingCuration	2019-03-27
DOID:1024	leprosy	skos:exactMatch	MIM:246300	{Leprosy, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:1024	leprosy	skos:exactMatch	MIM:607572	{Leprosy, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:1024	leprosy	skos:exactMatch	MIM:609888	{Leprosy, paucibacillary type, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:1024	leprosy	skos:exactMatch	MIM:610988	{Leprosy, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:1024	leprosy	skos:exactMatch	MIM:613223	{Leprosy, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:1024	leprosy	skos:exactMatch	MIM:613407	{Leprosy, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:10283	prostate cancer	skos:exactMatch	MIM:176807	Prostate cancer, somatic	semapv:ManualMappingCuration	2018-04-16
DOID:10300	Raynaud disease	skos:exactMatch	MIM:179600	RAYNAUD DISEASE	semapv:ManualMappingCuration	2018-08-22
DOID:10426	Klippel-Feil syndrome	skos:exactMatch	MIM:PS118100	Klippel-Feil syndrome 1, autosomal dominant	semapv:ManualMappingCuration	2019-03-19
DOID:10457	Legionnaires' disease	skos:exactMatch	MIM:608556	{Legionnaire disease, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:10486	intestinal atresia	skos:exactMatch	MIM:243600	JEJUNAL ATRESIA	semapv:ManualMappingCuration	2022-12-06
DOID:10487	Hirschsprung's disease	skos:exactMatch	MIM:142623	{Hirschsprung disease, protection against}	semapv:ManualMappingCuration	2017-10-03
DOID:10487	Hirschsprung's disease	skos:exactMatch	MIM:600155	{Hirschsprung disease, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:10487	Hirschsprung's disease	skos:exactMatch	MIM:600156	{Hirschsprung disease, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:10487	Hirschsprung's disease	skos:exactMatch	MIM:606874	{Hirschsprung disease, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:10487	Hirschsprung's disease	skos:exactMatch	MIM:606875	{Hirschsprung disease, susceptibility to, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:10487	Hirschsprung's disease	skos:exactMatch	MIM:608462	{Hirschsprung disease, susceptibility to, 8}	semapv:ManualMappingCuration	2017-10-03
DOID:10487	Hirschsprung's disease	skos:exactMatch	MIM:611644	{Hirschsprung disease, susceptibility to, 9}	semapv:ManualMappingCuration	2017-10-03
DOID:10487	Hirschsprung's disease	skos:exactMatch	MIM:613711	{Hirschsprung disease, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:10487	Hirschsprung's disease	skos:exactMatch	MIM:613712	{Hirschsprung disease, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:10487	Hirschsprung's disease	skos:exactMatch	MIM:PS142623	{Hirschsprung disease, protection against}	semapv:ManualMappingCuration	2019-03-27
DOID:10488	imperforate anus	skos:exactMatch	MIM:207500	ANUS, IMPERFORATE	semapv:ManualMappingCuration	2018-08-21
DOID:10488	imperforate anus	skos:exactMatch	MIM:301800	ANUS, IMPERFORATE	semapv:ManualMappingCuration	2018-08-21
DOID:10493	adrenal cortical hypofunction	skos:exactMatch	MIM:184757	Premature ovarian failure 7	semapv:ManualMappingCuration	2015-07-14
DOID:10534	stomach cancer	skos:exactMatch	MIM:613659	{Gastric cancer risk after H. pylori infection}	semapv:ManualMappingCuration	2017-10-03
DOID:1056	oculocerebrorenal syndrome	skos:exactMatch	MIM:309000	Lowe syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:10579	leukodystrophy	skos:exactMatch	MIM:PS221820	Leukoencephalopathy, diffuse hereditary, with spheroids 1	semapv:ManualMappingCuration	2017-10-18
DOID:10581	metachromatic leukodystrophy	skos:exactMatch	MIM:250100	Metachromatic leukodystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:10582	Refsum disease	skos:exactMatch	MIM:266500	Refsum disease	semapv:ManualMappingCuration	2017-10-03
DOID:10584	retinitis pigmentosa	skos:exactMatch	MIM:268000	RETINITIS PIGMENTOSA	semapv:ManualMappingCuration	2017-10-03
DOID:10584	retinitis pigmentosa	skos:exactMatch	MIM:PS268000	RETINITIS PIGMENTOSA	semapv:ManualMappingCuration	2019-03-26
DOID:10587	Krabbe disease	skos:exactMatch	MIM:245200	Krabbe disease	semapv:ManualMappingCuration	2017-10-03
DOID:10588	adrenoleukodystrophy	skos:exactMatch	MIM:300100	Adrenomyeloneuropathy, adult	semapv:ManualMappingCuration	2017-10-03
DOID:10591	pre-eclampsia	skos:exactMatch	MIM:PS189800	Preeclampsia/eclampsia 1	semapv:ManualMappingCuration	2019-03-21
DOID:10595	Charcot-Marie-Tooth disease	skos:exactMatch	MIM:180800	Roussy-Levy syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:10595	Charcot-Marie-Tooth disease	skos:exactMatch	MIM:PS118220	Charcot-Marie-Tooth disease, type 1A	semapv:ManualMappingCuration	2018-06-29
DOID:1060	Hartnup disease	skos:exactMatch	MIM:234500	Hartnup disorder	semapv:ManualMappingCuration	2017-10-03
DOID:10605	short bowel syndrome	skos:exactMatch	MIM:615237	Congenital short bowel syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:10608	celiac disease	skos:exactMatch	MIM:212750	{Celiac disease, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:607202	{Celiac disease, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:609753	{Celiac disease, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:609754	{Celiac disease, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:609755	{Celiac disease, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:611598	{Celiac disease, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:612005	{Celiac disease, susceptibility to, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:612006	{Celiac disease, susceptibility to, 8}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:612007	{Celiac disease, susceptibility to, 9}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:612008	{Celiac disease, susceptibility to, 10}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:612009	{Celiac disease, susceptibility to, 11}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:612010	{Celiac disease, susceptibility to, 12}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:612011	{Celiac disease, susceptibility to, 13}	semapv:ManualMappingCuration	2017-10-03
DOID:10608	celiac disease	skos:exactMatch	MIM:PS212750	{Celiac disease, susceptibility to}	semapv:ManualMappingCuration	2019-03-19
DOID:10611	protein-losing enteropathy	skos:exactMatch	MIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	semapv:ManualMappingCuration	2017-10-03
DOID:1062	Fanconi syndrome	skos:exactMatch	MIM:PS134600	Fanconi renotubular syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:10629	microphthalmia	skos:exactMatch	MIM:PS251600	Microphthalmia, isolated 1	semapv:ManualMappingCuration	2019-03-27
DOID:1064	cystinosis	skos:exactMatch	MIM:219800	Cystinosis, atypical nephropathic	semapv:ManualMappingCuration	2017-10-03
DOID:10652	Alzheimer's disease	skos:exactMatch	MIM:502500	ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL	semapv:ManualMappingCuration	2018-08-22
DOID:1068	juvenile glaucoma	skos:exactMatch	MIM:137750	Glaucoma 1A, primary open angle	semapv:ManualMappingCuration	2017-10-03
DOID:1070	primary open angle glaucoma	skos:exactMatch	MIM:137760	Glaucoma 1, open angle, E	semapv:ManualMappingCuration	2017-10-03
DOID:10754	otitis media	skos:exactMatch	MIM:166760	{Otitis media, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:10762	portal hypertension	skos:exactMatch	MIM:PS617068	PORTAL HYPERTENSION, NONCIRRHOTIC, 1	semapv:ManualMappingCuration	2021-09-03
DOID:10772	thrombotic thrombocytopenic purpura	skos:exactMatch	MIM:274150	Thrombotic thrombocytopenic purpura, hereditary	semapv:ManualMappingCuration	2017-10-03
DOID:10780	primary polycythemia	skos:exactMatch	MIM:PS133100	Erythrocytosis, somatic	semapv:ManualMappingCuration	2018-06-29
DOID:10825	essential hypertension	skos:exactMatch	MIM:145500	{Hypertension, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:10825	essential hypertension	skos:exactMatch	MIM:603918	{Hypertension, essential, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:10825	essential hypertension	skos:exactMatch	MIM:604329	{Hypertension, essential, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:10825	essential hypertension	skos:exactMatch	MIM:607329	{Hypertension, essential, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:10825	essential hypertension	skos:exactMatch	MIM:608742	{Hypertension, essential, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:10825	essential hypertension	skos:exactMatch	MIM:610261	{Hypertension, essential, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:10825	essential hypertension	skos:exactMatch	MIM:610262	{Hypertension, essential, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:10825	essential hypertension	skos:exactMatch	MIM:610948	{Hypertension, essential, susceptibility to, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:10825	essential hypertension	skos:exactMatch	MIM:611014	{Hypertension, essential, susceptibility to, 8}	semapv:ManualMappingCuration	2017-10-03
DOID:10865	abducens nerve palsy	skos:exactMatch	MIM:100200	ABDUCENS PALSY	semapv:ManualMappingCuration	2018-08-21
DOID:10869	fourth cranial nerve palsy	skos:exactMatch	MIM:136480	FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL	semapv:ManualMappingCuration	
DOID:10871	age related macular degeneration	skos:exactMatch	MIM:PS603075	{Macular degeneration, age-related, 1}	semapv:ManualMappingCuration	2018-05-31
DOID:10892	hypospadias	skos:exactMatch	MIM:PS300633	Hypospadias 1, X-linked	semapv:ManualMappingCuration	2019-03-19
DOID:10908	hydrocephalus	skos:exactMatch	MIM:236600	Hydrocephalus, congenital, 1	semapv:ManualMappingCuration	2017-10-03
DOID:10908	hydrocephalus	skos:exactMatch	MIM:236635	HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS	semapv:ManualMappingCuration	2018-08-22
DOID:10908	hydrocephalus	skos:exactMatch	MIM:PS236600	Hydrocephalus, congenital, 1	semapv:ManualMappingCuration	2019-03-27
DOID:10915	Wernicke-Korsakoff syndrome	skos:exactMatch	MIM:277730	WERNICKE-KORSAKOFF SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:10933	obsessive-compulsive disorder	skos:exactMatch	MIM:164230	{Obsessive-compulsive disorder}	semapv:ManualMappingCuration	2017-10-03
DOID:1094	attention deficit hyperactivity disorder	skos:exactMatch	MIM:143465	{Attention deficit-hyperactivity disorder, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:1094	attention deficit hyperactivity disorder	skos:exactMatch	MIM:608903	{Attention deficit-hyperactivity disorder, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:1094	attention deficit hyperactivity disorder	skos:exactMatch	MIM:608904	{Attention deficit-hyperactivity disorder, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:1094	attention deficit hyperactivity disorder	skos:exactMatch	MIM:608905	{Attention deficit-hyperactivity disorder, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:1094	attention deficit hyperactivity disorder	skos:exactMatch	MIM:608906	{Attention deficit-hyperactivity disorder, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:1094	attention deficit hyperactivity disorder	skos:exactMatch	MIM:612311	{Attention deficit-hyperactivity disorder, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:1094	attention deficit hyperactivity disorder	skos:exactMatch	MIM:612312	{Attention deficit-hyperactivity disorder, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:10970	spastic quadriplegic cerebral palsy	skos:exactMatch	MIM:PS612900	Cerebral palsy, spastic quadriplegic, 2	semapv:ManualMappingCuration	2019-03-19
DOID:10976	membranous glomerulonephritis	skos:exactMatch	MIM:614692	{?Membranous nephropathy, susceptibility to}	semapv:ManualMappingCuration	2017-10-10
DOID:10983	Alport syndrome	skos:exactMatch	MIM:PS301050	Alport syndrome 1, X-linked	semapv:ManualMappingCuration	2019-03-27
DOID:1099	alpha thalassemia	skos:exactMatch	MIM:604131	Thalassemia, alpha-	semapv:ManualMappingCuration	2017-10-03
DOID:10992	acute hemorrhagic leukoencephalitis	skos:exactMatch	MIM:606752	ACUTE HEMORRHAGIC LEUKOENCEPHALITIS	semapv:ManualMappingCuration	2018-08-21
DOID:11042	Felty's syndrome	skos:exactMatch	MIM:134750	FELTY SYNDROME	semapv:ManualMappingCuration	2018-08-22
DOID:11044	gastroschisis	skos:exactMatch	MIM:230750	GASTROSCHISIS	semapv:ManualMappingCuration	2018-08-21
DOID:11054	urinary bladder cancer	skos:exactMatch	MIM:109800	Bladder cancer, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:11105	fundus albipunctatus	skos:exactMatch	MIM:136880	Retinitis punctata albescens	semapv:ManualMappingCuration	2017-10-03
DOID:11119	Gilles de la Tourette syndrome	skos:exactMatch	MIM:137580	{Gilles de la Tourette syndrome, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:11132	prostatic hypertrophy	skos:exactMatch	MIM:600082	PROSTATIC HYPERPLASIA, BENIGN	semapv:ManualMappingCuration	2020-03-23
DOID:11156	anhidrosis	skos:exactMatch	MIM:206600	ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS	semapv:ManualMappingCuration	2017-02-14
DOID:11164	band keratopathy	skos:exactMatch	MIM:217500	CORNEAL DYSTROPHY, BAND-SHAPED	semapv:ManualMappingCuration	2018-08-21
DOID:11198	DiGeorge syndrome	skos:exactMatch	MIM:188400	DiGeorge syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:11211	buphthalmos	skos:exactMatch	MIM:231300	Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset	semapv:ManualMappingCuration	2017-10-03
DOID:11252	microcytic anemia	skos:exactMatch	MIM:206200	Iron-refractory iron deficiency anemia	semapv:ManualMappingCuration	2017-10-03
DOID:11329	ainhum	skos:exactMatch	MIM:103400	AINHUM	semapv:ManualMappingCuration	2018-08-21
DOID:11335	sarcoidosis	skos:exactMatch	MIM:181000	{Sarcoidosis, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:11335	sarcoidosis	skos:exactMatch	MIM:612387	{Sarcoidosis, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:11335	sarcoidosis	skos:exactMatch	MIM:612388	{Sarcoidosis, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:11342	arcus senilis	skos:exactMatch	MIM:107800	ARCUS CORNEAE	semapv:ManualMappingCuration	2018-08-22
DOID:11353	bladder diverticulum	skos:exactMatch	MIM:109820	BLADDER DIVERTICULUM	semapv:ManualMappingCuration	2018-08-21
DOID:11383	cryptorchidism	skos:exactMatch	MIM:219050	Cryptorchidism	semapv:ManualMappingCuration	2017-10-03
DOID:11459	pseudotumor cerebri	skos:exactMatch	MIM:243200	INTRACRANIAL HYPERTENSION, IDIOPATHIC	semapv:ManualMappingCuration	2018-08-21
DOID:11476	osteoporosis	skos:exactMatch	MIM:166710	{Osteoporosis, postmenopausal, susceptibility}	semapv:ManualMappingCuration	2017-10-03
DOID:1148	polydactyly	skos:exactMatch	MIM:603596	POLYDACTYLY	semapv:ManualMappingCuration	2018-08-21
DOID:11486	Horner's syndrome	skos:exactMatch	MIM:143000	HORNER SYNDROME, CONGENITAL	semapv:ManualMappingCuration	2018-05-22
DOID:11512	Budd-Chiari syndrome	skos:exactMatch	MIM:600880	{Budd-Chiari syndrome}	semapv:ManualMappingCuration	2017-10-03
DOID:11549	Adie syndrome	skos:exactMatch	MIM:103100	ADIE PUPIL	semapv:ManualMappingCuration	2018-04-16
DOID:11555	Fuchs' endothelial dystrophy	skos:exactMatch	MIM:PS136800	Corneal dystrophy, Fuchs endothelial, 1	semapv:ManualMappingCuration	2019-03-26
DOID:11589	Riley-Day syndrome	skos:exactMatch	MIM:223900	Dysautonomia, familial	semapv:ManualMappingCuration	2017-10-03
DOID:11599	Frey syndrome	skos:exactMatch	MIM:144100	HYPERHIDROSIS, GUSTATORY	semapv:ManualMappingCuration	2018-08-22
DOID:11612	polycystic ovary syndrome	skos:exactMatch	MIM:184700	Polycystic ovary syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:11634	myxedema	skos:exactMatch	MIM:255900	MYXEDEMA	semapv:ManualMappingCuration	2018-08-22
DOID:11656	cicatricial pemphigoid	skos:exactMatch	MIM:164185	OCULAR CICATRICIAL PEMPHIGOID	semapv:ManualMappingCuration	2018-05-22
DOID:11661	blue color blindness	skos:exactMatch	MIM:190900	Colorblindness, tritan	semapv:ManualMappingCuration	2014-06-23
DOID:11701	selective IgA deficiency disease	skos:exactMatch	MIM:137100	Immunoglobulin A deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:1171	hyperlipoproteinemia type V	skos:exactMatch	MIM:144650	Hyperchylomicronemia, late-onset	semapv:ManualMappingCuration	2017-10-03
DOID:11713	diabetic angiopathy	skos:exactMatch	MIM:603933	{Microvascular complications of diabetes 1}	semapv:ManualMappingCuration	2014-06-23
DOID:11713	diabetic angiopathy	skos:exactMatch	MIM:612623	{Microvascular complications of diabetes 2}	semapv:ManualMappingCuration	2014-06-23
DOID:11713	diabetic angiopathy	skos:exactMatch	MIM:612624	{Microvascular complications of diabetes 3}	semapv:ManualMappingCuration	2014-06-23
DOID:11713	diabetic angiopathy	skos:exactMatch	MIM:612628	{Microvascular complications of diabetes 4}	semapv:ManualMappingCuration	2014-06-23
DOID:11713	diabetic angiopathy	skos:exactMatch	MIM:612633	{Microvascular complications of diabetes 5}	semapv:ManualMappingCuration	2014-06-23
DOID:11713	diabetic angiopathy	skos:exactMatch	MIM:612634	{Microvascular complications of diabetes 6}	semapv:ManualMappingCuration	2014-06-23
DOID:11713	diabetic angiopathy	skos:exactMatch	MIM:612635	{Microvascular complications of diabetes, susceptibility to, 7}	semapv:ManualMappingCuration	2014-06-23
DOID:11713	diabetic angiopathy	skos:exactMatch	MIM:PS603933	{Microvascular complications of diabetes 1}	semapv:ManualMappingCuration	2019-03-26
DOID:11719	oculopharyngeal muscular dystrophy	skos:exactMatch	MIM:164300	Oculopharyngeal muscular dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:1172	hyperlipoproteinemia type IV	skos:exactMatch	MIM:144600	HYPERLIPOPROTEINEMIA, TYPE IV	semapv:ManualMappingCuration	2018-08-22
DOID:1172	hyperlipoproteinemia type IV	skos:exactMatch	MIM:145750	{Hypertriglyceridemia, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:11720	distal myopathy	skos:exactMatch	MIM:PS160500	Laing distal myopathy	semapv:ManualMappingCuration	2023-11-30
DOID:11721	glycogen storage disease VII	skos:exactMatch	MIM:232800	Glycogen storage disease VII	semapv:ManualMappingCuration	2017-10-03
DOID:11722	myotonic dystrophy type 1	skos:exactMatch	MIM:160900	Myotonic dystrophy 1	semapv:ManualMappingCuration	2017-10-03
DOID:11723	Duchenne muscular dystrophy	skos:exactMatch	MIM:310200	Duchenne muscular dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:11724	limb-girdle muscular dystrophy	skos:exactMatch	MIM:PS609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	semapv:ManualMappingCuration	2019-03-27
DOID:11725	Cornelia de Lange syndrome	skos:exactMatch	MIM:PS122470	Cornelia de Lange syndrome 1	semapv:ManualMappingCuration	2018-10-11
DOID:11726	Emery-Dreifuss muscular dystrophy	skos:exactMatch	MIM:PS310300	Emery-Dreifuss muscular dystrophy 1, X-linked	semapv:ManualMappingCuration	2018-09-12
DOID:11727	facioscapulohumeral muscular dystrophy	skos:exactMatch	MIM:PS158900	Facioscapulohumeral muscular dystrophy 1	semapv:ManualMappingCuration	2021-11-09
DOID:11782	astigmatism	skos:exactMatch	MIM:603047	ASTIGMATISM	semapv:ManualMappingCuration	2018-08-22
DOID:11819	ureter cancer	skos:exactMatch	MIM:191600	URETER, CANCER OF	semapv:ManualMappingCuration	2018-08-21
DOID:11830	myopia	skos:exactMatch	MIM:PS160700	Myopia 2	semapv:ManualMappingCuration	2019-03-28
DOID:11836	clubfoot	skos:exactMatch	MIM:119800	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	semapv:ManualMappingCuration	2017-10-03
DOID:11840	coronary artery vasospasm	skos:exactMatch	MIM:163729	{Hypertension, susceptibility to}	semapv:ManualMappingCuration	
DOID:11870	Pick's disease	skos:exactMatch	MIM:172700	Pick disease	semapv:ManualMappingCuration	2017-10-03
DOID:11949	Creutzfeldt-Jakob disease	skos:exactMatch	MIM:123400	Creutzfeldt-Jakob disease	semapv:ManualMappingCuration	2017-10-03
DOID:11975	coloboma of optic nerve	skos:exactMatch	MIM:120430	?Morning glory disc anomaly	semapv:ManualMappingCuration	2017-10-03
DOID:11983	Prader-Willi syndrome	skos:exactMatch	MIM:176270	Prader-Willi syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:11996	spermatic cord torsion	skos:exactMatch	MIM:187400	TESTICULAR TORSION	semapv:ManualMappingCuration	2018-08-21
DOID:1206	Rett syndrome	skos:exactMatch	MIM:312750	Rett syndrome, atypical	semapv:ManualMappingCuration	2017-10-03
DOID:12098	trigeminal neuralgia	skos:exactMatch	MIM:190400	TRIGEMINAL NEURALGIA	semapv:ManualMappingCuration	2018-08-22
DOID:12117	pulmonary alveolar microlithiasis	skos:exactMatch	MIM:265100	Pulmonary alveolar microlithiasis	semapv:ManualMappingCuration	2017-10-03
DOID:12118	pulmonary hemosiderosis	skos:exactMatch	MIM:178550	PULMONARY HEMOSIDEROSIS	semapv:ManualMappingCuration	2018-08-22
DOID:12118	pulmonary hemosiderosis	skos:exactMatch	MIM:235500	HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN	semapv:ManualMappingCuration	2018-08-22
DOID:12120	pulmonary alveolar proteinosis	skos:exactMatch	MIM:PS265120	Surfactant metabolism dysfunction, pulmonary, 1	semapv:ManualMappingCuration	2019-03-27
DOID:12129	bulimia nervosa	skos:exactMatch	MIM:607499	{Bulimia nervosa, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:12132	granulomatosis with polyangiitis	skos:exactMatch	MIM:608710	Granulomatosis with polyangiitis	semapv:ManualMappingCuration	2017-10-03
DOID:12134	factor VIII deficiency	skos:exactMatch	MIM:306700	Hemophilia A	semapv:ManualMappingCuration	2017-10-03
DOID:12169	carpal tunnel syndrome	skos:exactMatch	MIM:PS115430	Carpal tunnel syndrome, familial	semapv:ManualMappingCuration	2021-02-01
DOID:12177	common variable immunodeficiency	skos:exactMatch	MIM:PS607594	Immunodeficiency, common variable, 1	semapv:ManualMappingCuration	2019-03-28
DOID:12185	otosclerosis	skos:exactMatch	MIM:PS166800	Otosclerosis 1	semapv:ManualMappingCuration	2019-03-15
DOID:12205	dengue disease	skos:exactMatch	MIM:614371	{Dengue fever, protection against}	semapv:ManualMappingCuration	2017-10-10
DOID:12217	Lewy body dementia	skos:exactMatch	MIM:127750	{Lewy body dementia, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:12236	primary biliary cholangitis	skos:exactMatch	MIM:PS109720	Biliary cirrhosis, primary, 1	semapv:ManualMappingCuration	2019-03-20
DOID:12241	beta thalassemia	skos:exactMatch	MIM:613985	Thalassemia, Hispanic gamma-delta-beta	semapv:ManualMappingCuration	2014-10-20
DOID:12259	hemophilia B	skos:exactMatch	MIM:306900	Hemophilia B	semapv:ManualMappingCuration	2017-10-03
DOID:12270	coloboma	skos:exactMatch	MIM:120300	COLOBOMA OF MACULA	semapv:ManualMappingCuration	2018-08-21
DOID:12270	coloboma	skos:exactMatch	MIM:216820	?Coloboma, ocular, autosomal recessive	semapv:ManualMappingCuration	2017-10-10
DOID:12271	aniridia	skos:exactMatch	MIM:PS106210	Aniridia	semapv:ManualMappingCuration	2019-03-26
DOID:12305	Bloch-Sulzberger syndrome	skos:exactMatch	MIM:308300	Incontinentia pigmenti	semapv:ManualMappingCuration	2017-10-03
DOID:12306	vitiligo	skos:exactMatch	MIM:193200	{Vitiligo-associated multiple autoimmune disease susceptibility 6}	semapv:ManualMappingCuration	2014-06-23
DOID:12306	vitiligo	skos:exactMatch	MIM:606579	{Vitiligo-associated multiple autoimmune disease susceptibility 1}	semapv:ManualMappingCuration	2014-06-23
DOID:12306	vitiligo	skos:exactMatch	MIM:607836	{Autoimmune disease, susceptibility to, 1}	semapv:ManualMappingCuration	2014-06-23
DOID:12306	vitiligo	skos:exactMatch	MIM:608391	{Autoimmune disease, susceptibility to, 2}	semapv:ManualMappingCuration	2014-06-23
DOID:12306	vitiligo	skos:exactMatch	MIM:608392	{Autoimmune disease, susceptibility to, 3}	semapv:ManualMappingCuration	2014-06-23
DOID:12306	vitiligo	skos:exactMatch	MIM:609400	{Autoimmune disease, susceptibility to, 4}	semapv:ManualMappingCuration	2014-06-23
DOID:12308	Dubin-Johnson syndrome	skos:exactMatch	MIM:237500	Dubin-Johnson syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:1234	gender incongruence	skos:exactMatch	MIM:600952	TRANSSEXUALITY	semapv:ManualMappingCuration	2022-12-06
DOID:12347	osteogenesis imperfecta	skos:exactMatch	MIM:PS166200	Osteogenesis imperfecta, type I	semapv:ManualMappingCuration	2018-06-29
DOID:12361	Graves' disease	skos:exactMatch	MIM:275000	{Graves disease, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:12361	Graves' disease	skos:exactMatch	MIM:300351	{Graves disease, susceptibility to, X-linked}	semapv:ManualMappingCuration	2014-06-23
DOID:12361	Graves' disease	skos:exactMatch	MIM:603372	Hyperthyroidism, nonautoimmune	semapv:ManualMappingCuration	2014-10-20
DOID:12361	Graves' disease	skos:exactMatch	MIM:603388	{Graves disease, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:12365	malaria	skos:exactMatch	MIM:609148	{Malaria, mild, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:12365	malaria	skos:exactMatch	MIM:611162	{Malaria, vivax, protection against}	semapv:ManualMappingCuration	2017-10-03
DOID:12376	juvenile spinal muscular atrophy	skos:exactMatch	MIM:253400	{Spinal muscular atrophy, type III, modifier of}	semapv:ManualMappingCuration	2017-10-03
DOID:12388	neurohypophyseal diabetes insipidus	skos:exactMatch	MIM:125700	Diabetes insipidus, neurohypophyseal	semapv:ManualMappingCuration	2017-10-03
DOID:12399	pathological gambling	skos:exactMatch	MIM:606349	GAMBLING, PATHOLOGIC	semapv:ManualMappingCuration	2018-08-21
DOID:12449	aplastic anemia	skos:exactMatch	MIM:609135	Aplastic anemia	semapv:ManualMappingCuration	2017-10-03
DOID:12554	hemolytic-uremic syndrome	skos:exactMatch	MIM:PS235400	{Hemolytic uremic syndrome, atypical, susceptibility to}	semapv:ManualMappingCuration	2019-03-27
DOID:12557	Duane retraction syndrome	skos:exactMatch	MIM:PS126800	Duane retraction syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:12558	chronic progressive external ophthalmoplegia	skos:exactMatch	MIM:PS157640	Progressive external ophthalmoplegia, autosomal dominant 1	semapv:ManualMappingCuration	2019-03-27
DOID:12559	idiopathic juvenile osteoporosis	skos:exactMatch	MIM:259750	OSTEOPOROSIS, JUVENILE	semapv:ManualMappingCuration	2018-08-21
DOID:12580	Cri-du-Chat syndrome	skos:exactMatch	MIM:123450	CRI-DU-CHAT SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:12583	velocardiofacial syndrome	skos:exactMatch	MIM:192430	Velocardiofacial syndrome	semapv:ManualMappingCuration	2018-04-16
DOID:12638	hypertrophic pyloric stenosis	skos:exactMatch	MIM:PS179010	Pyloric stenosis, infantile hypertrophic 1	semapv:ManualMappingCuration	2019-03-27
DOID:12642	hiatus hernia	skos:exactMatch	MIM:142400	HERNIA, HIATUS	semapv:ManualMappingCuration	2018-08-22
DOID:12661	tooth ankylosis	skos:exactMatch	MIM:157950	PERMANENT MOLARS, SECONDARY RETENTION OF	semapv:ManualMappingCuration	2018-08-22
DOID:12678	hypercalcemia	skos:exactMatch	MIM:PS143880	Hypercalcemia, infantile, 1	semapv:ManualMappingCuration	2019-03-27
DOID:1270	hereditary hemorrhagic telangiectasia	skos:exactMatch	MIM:PS187300	Telangiectasia, hereditary hemorrhagic, type 1	semapv:ManualMappingCuration	2019-03-15
DOID:12700	hyperprolactinemia	skos:exactMatch	MIM:615555	Hyperprolactinemia	semapv:ManualMappingCuration	2014-10-20
DOID:12704	ataxia telangiectasia	skos:exactMatch	MIM:208900	Ataxia-telangiectasia	semapv:ManualMappingCuration	2017-10-03
DOID:12707	myoclonic cerebellar dyssynergia	skos:exactMatch	MIM:213400	DYSSYNERGIA CEREBELLARIS MYOCLONICA OF HUNT	semapv:ManualMappingCuration	2018-08-22
DOID:12712	nephronophthisis	skos:exactMatch	MIM:PS256100	Nephronophthisis 1, juvenile	semapv:ManualMappingCuration	2018-06-29
DOID:12714	Ellis-Van Creveld syndrome	skos:exactMatch	MIM:225500	Ellis-van Creveld syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:12721	multiple epiphyseal dysplasia	skos:exactMatch	MIM:PS132400	Epiphyseal dysplasia, multiple, 1	semapv:ManualMappingCuration	2019-03-27
DOID:12731	pars planitis	skos:exactMatch	MIM:606177	PARS PLANITIS	semapv:ManualMappingCuration	2018-08-21
DOID:12783	migraine without aura	skos:exactMatch	MIM:607501	{Migraine without aura, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:12798	mucopolysaccharidosis	skos:exactMatch	MIM:PS607014	Mucopolysaccharidosis Ih	semapv:ManualMappingCuration	2019-03-27
DOID:12799	mucopolysaccharidosis II	skos:exactMatch	MIM:309900	Mucopolysaccharidosis II	semapv:ManualMappingCuration	2017-10-03
DOID:12800	mucopolysaccharidosis VI	skos:exactMatch	MIM:253200	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	semapv:ManualMappingCuration	2017-10-03
DOID:12803	Sly syndrome	skos:exactMatch	MIM:253220	Mucopolysaccharidosis VII	semapv:ManualMappingCuration	2017-10-03
DOID:12842	Guillain-Barre syndrome	skos:exactMatch	MIM:139393	?Neuropathy, inflammatory demyelinating	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:209850	{Autism susceptibility 1}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:300425	{Autism susceptibility, X-linked 1}	semapv:ManualMappingCuration	2017-07-27
DOID:12849	autistic disorder	skos:exactMatch	MIM:300495	{Autism susceptibility, X-linked 2}	semapv:ManualMappingCuration	2017-07-27
DOID:12849	autistic disorder	skos:exactMatch	MIM:300496	{Autism susceptibility, X-linked 3}	semapv:ManualMappingCuration	2017-07-26
DOID:12849	autistic disorder	skos:exactMatch	MIM:300830	{Autism, susceptibility to, X-linked 4}	semapv:ManualMappingCuration	2016-01-13
DOID:12849	autistic disorder	skos:exactMatch	MIM:300847	{Autism, susceptibility to, X-linked 5}	semapv:ManualMappingCuration	2016-01-13
DOID:12849	autistic disorder	skos:exactMatch	MIM:300872	{Autism, susceptibility to, X-linked 6}	semapv:ManualMappingCuration	2014-09-09
DOID:12849	autistic disorder	skos:exactMatch	MIM:607373	{Autism susceptibility 8}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:608049	{Autism susceptibility 3}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:608636	Chromosome 15q11-q13 duplication syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:609378	{Autism susceptibility 6}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:610676	{Autism susceptibility 7}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:610836	{Autism susceptibility 11}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:610838	{Autism susceptibility 12}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:610908	{Autism susceptibility 13}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:611015	{Autism, susceptibility to, 9}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:611016	{Autism, susceptibility to, 10}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:612100	{Autism susceptibility 15}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:613410	{?Autism susceptibility 16}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:613436	{Autism susceptibility 17}	semapv:ManualMappingCuration	2017-10-03
DOID:12849	autistic disorder	skos:exactMatch	MIM:615091	{Autism, susceptibility to, 19}	semapv:ManualMappingCuration	2015-06-08
DOID:12849	autistic disorder	skos:exactMatch	MIM:618830	{Autism, susceptibility to, 20}	semapv:ManualMappingCuration	2024-02-08
DOID:12849	autistic disorder	skos:exactMatch	MIM:PS209850	{Autism susceptibility 1}	semapv:ManualMappingCuration	2019-03-26
DOID:12858	Huntington's disease	skos:exactMatch	MIM:143100	Huntington disease	semapv:ManualMappingCuration	2017-10-03
DOID:12859	choreatic disease	skos:exactMatch	MIM:118700	Chorea, hereditary benign	semapv:ManualMappingCuration	2017-10-03
DOID:12894	Sjogren's syndrome	skos:exactMatch	MIM:270150	SJOGREN SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:12918	thromboangiitis obliterans	skos:exactMatch	MIM:211480	BUERGER DISEASE	semapv:ManualMappingCuration	2018-08-21
DOID:12929	endocardial fibroelastosis	skos:exactMatch	MIM:226000	ENDOCARDIAL FIBROELASTOSIS	semapv:ManualMappingCuration	2018-08-21
DOID:12930	dilated cardiomyopathy	skos:exactMatch	MIM:PS115200	Cardiomyopathy, dilated, 1A	semapv:ManualMappingCuration	2018-06-29
DOID:12934	Kearns-Sayre syndrome	skos:exactMatch	MIM:530000	KEARNS-SAYRE SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:12960	acrocephalosyndactylia	skos:exactMatch	MIM:101200	Apert syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:12961	Poland syndrome	skos:exactMatch	MIM:173800	POLAND SYNDROME	semapv:ManualMappingCuration	2018-08-21
DOID:12978	Plasmodium vivax malaria	skos:exactMatch	MIM:110700	[Blood group, Duffy system]	semapv:ManualMappingCuration	2017-10-03
DOID:13042	persistent fetal circulation syndrome	skos:exactMatch	MIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins	semapv:ManualMappingCuration	2017-10-03
DOID:13087	Lown-Ganong-Levine syndrome	skos:exactMatch	MIM:108950	ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL	semapv:ManualMappingCuration	2018-05-23
DOID:13096	Sneddon syndrome	skos:exactMatch	MIM:182410	Sneddon syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:13099	Moyamoya disease	skos:exactMatch	MIM:PS252350	Moyamoya disease	semapv:ManualMappingCuration	2019-03-27
DOID:1312	focal segmental glomerulosclerosis	skos:exactMatch	MIM:PS603278	Glomerulosclerosis, focal segmental, 1	semapv:ManualMappingCuration	2018-06-29
DOID:13137	Werdnig-Hoffmann disease	skos:exactMatch	MIM:253300	Spinal muscular atrophy-1	semapv:ManualMappingCuration	2018-05-24
DOID:13166	allergic bronchopulmonary aspergillosis	skos:exactMatch	MIM:103920	ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, FAMILIAL	semapv:ManualMappingCuration	2018-06-19
DOID:13189	gout	skos:exactMatch	MIM:138900	[Uric acid concentration, serum, QTL1]	semapv:ManualMappingCuration	2018-09-28
DOID:13189	gout	skos:exactMatch	MIM:191530	URATE-BINDING GLOBULIN, DECREASE IN	semapv:ManualMappingCuration	
DOID:13189	gout	skos:exactMatch	MIM:612671	{Gout susceptibility 4}	semapv:ManualMappingCuration	2018-09-28
DOID:13223	uterine fibroid	skos:exactMatch	MIM:150699	LEIOMYOMA, UTERINE	semapv:ManualMappingCuration	2017-10-10
DOID:1324	lung cancer	skos:exactMatch	MIM:211980	Nonsmall cell lung cancer, somatic	semapv:ManualMappingCuration	2024-01-23
DOID:1324	lung cancer	skos:exactMatch	MIM:608935	{Lung cancer susceptibility}	semapv:ManualMappingCuration	2018-07-06
DOID:1324	lung cancer	skos:exactMatch	MIM:612052	{Lung cancer susceptibility 2}	semapv:ManualMappingCuration	2018-07-06
DOID:1324	lung cancer	skos:exactMatch	MIM:612571	{Lung cancer susceptibility 3}	semapv:ManualMappingCuration	2018-07-06
DOID:1324	lung cancer	skos:exactMatch	MIM:612593	{Lung cancer susceptibility 4}	semapv:ManualMappingCuration	2018-07-06
DOID:1324	lung cancer	skos:exactMatch	MIM:614210	{Lung cancer susceptibility 5}	semapv:ManualMappingCuration	2018-07-06
DOID:13241	Behcet's disease	skos:exactMatch	MIM:109650	BEHCET SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:13269	hereditary coproporphyria	skos:exactMatch	MIM:121300	Coproporphyria	semapv:ManualMappingCuration	2017-10-03
DOID:13270	erythropoietic protoporphyria	skos:exactMatch	MIM:PS177000	Protoporphyria, erythropoietic, 1	semapv:ManualMappingCuration	2019-03-26
DOID:13271	cutaneous porphyria	skos:exactMatch	MIM:263700	Porphyria, congenital erythropoietic	semapv:ManualMappingCuration	2017-10-03
DOID:13300	Scheuermann's disease	skos:exactMatch	MIM:181440	SCHEUERMANN DISEASE	semapv:ManualMappingCuration	2017-10-03
DOID:13317	hyperinsulinemic hypoglycemia	skos:exactMatch	MIM:PS256450	Hyperinsulinemic hypoglycemia, familial, 1	semapv:ManualMappingCuration	2019-03-15
DOID:13357	chondromalacia patellae	skos:exactMatch	MIM:168900	PATELLA, CHONDROMALACIA OF	semapv:ManualMappingCuration	2018-08-22
DOID:13359	Ehlers-Danlos syndrome	skos:exactMatch	MIM:PS130000	Ehlers-Danlos syndrome, classic type, 1	semapv:ManualMappingCuration	2018-06-29
DOID:13366	Stiff-Person syndrome	skos:exactMatch	MIM:184850	STIFF-PERSON SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:13372	alpha 1-antitrypsin deficiency	skos:exactMatch	MIM:613490	Hemorrhagic diathesis due to antithrombin Pittsburgh	semapv:ManualMappingCuration	2017-10-03
DOID:13374	fibrodysplasia ossificans progressiva	skos:exactMatch	MIM:135100	Fibrodysplasia ossificans progressiva	semapv:ManualMappingCuration	2017-10-03
DOID:13375	temporal arteritis	skos:exactMatch	MIM:187360	TEMPORAL ARTERITIS	semapv:ManualMappingCuration	2018-08-22
DOID:13378	Kawasaki disease	skos:exactMatch	MIM:611775	KAWASAKI DISEASE	semapv:ManualMappingCuration	2017-10-03
DOID:1338	congenital dyserythropoietic anemia	skos:exactMatch	MIM:PS224120	Dyserythropoietic anemia, congenital, type Ia	semapv:ManualMappingCuration	2019-03-19
DOID:13381	pernicious anemia	skos:exactMatch	MIM:170900	PERNICIOUS ANEMIA	semapv:ManualMappingCuration	2018-08-22
DOID:1339	Diamond-Blackfan anemia	skos:exactMatch	MIM:PS105650	Diamond-Blackfan anemia 1	semapv:ManualMappingCuration	2019-03-21
DOID:13401	angioid streaks	skos:exactMatch	MIM:607140	ANGIOID STREAKS	semapv:ManualMappingCuration	2018-08-22
DOID:13482	Proteus syndrome	skos:exactMatch	MIM:176920	Proteus syndrome, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:13501	Moebius syndrome	skos:exactMatch	MIM:157900	?Moebius syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:13515	tuberous sclerosis	skos:exactMatch	MIM:PS191100	Tuberous sclerosis-1	semapv:ManualMappingCuration	2018-09-12
DOID:13533	osteopetrosis	skos:exactMatch	MIM:PS259700	Osteopetrosis, autosomal recessive 1	semapv:ManualMappingCuration	2018-06-29
DOID:13533	osteopetrosis	skos:exactMatch	MIM:PS607634	Osteopetrosis, autosomal dominant 1	semapv:ManualMappingCuration	2018-06-29
DOID:13543	hyperparathyroidism	skos:exactMatch	MIM:PS145000	Hyperparathyroidism, familial primary	semapv:ManualMappingCuration	2019-03-20
DOID:13564	aspergillosis	skos:exactMatch	MIM:614079	{Aspergillosis, susceptibility to}	semapv:ManualMappingCuration	2017-10-10
DOID:13608	biliary atresia	skos:exactMatch	MIM:210500	BILIARY ATRESIA, EXTRAHEPATIC	semapv:ManualMappingCuration	2018-05-23
DOID:13628	favism	skos:exactMatch	MIM:300908	Anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient	semapv:ManualMappingCuration	2014-10-20
DOID:13636	Fanconi anemia	skos:exactMatch	MIM:PS227650	Fanconi anemia, complementation group A	semapv:ManualMappingCuration	2018-06-29
DOID:13641	exfoliation syndrome	skos:exactMatch	MIM:177650	{Exfoliation syndrome, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:13724	scurvy	skos:exactMatch	MIM:240400	Scurvy	semapv:ManualMappingCuration	2017-10-03
DOID:13774	Addison's disease	skos:exactMatch	MIM:240200	HYPOADRENOCORTICISM, FAMILIAL	semapv:ManualMappingCuration	2018-08-21
DOID:13777	epidermodysplasia verruciformis	skos:exactMatch	MIM:PS226400	{Epidermodysplasia verruciformis, susceptibility to, 1}	semapv:ManualMappingCuration	2019-03-26
DOID:1380	endometrial cancer	skos:exactMatch	MIM:608089	Endometrial carcinoma, somatic	semapv:ManualMappingCuration	2019-02-13
DOID:13809	familial combined hyperlipidemia	skos:exactMatch	MIM:144250	Combined hyperlipidemia, familial	semapv:ManualMappingCuration	2017-10-03
DOID:13810	familial hypercholesterolemia	skos:exactMatch	MIM:143890	{Hypercholesterolemia, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:13810	familial hypercholesterolemia	skos:exactMatch	MIM:PS143890	{Hypercholesterolemia, susceptibility to}	semapv:ManualMappingCuration	2017-11-10
DOID:13832	patent ductus arteriosus	skos:exactMatch	MIM:607411	{Patent ductus arteriosus, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:13832	patent ductus arteriosus	skos:exactMatch	MIM:PS607411	{Patent ductus arteriosus, susceptibility to}	semapv:ManualMappingCuration	2019-03-27
DOID:1386	abetalipoproteinemia	skos:exactMatch	MIM:200100	Abetalipoproteinemia	semapv:ManualMappingCuration	2017-10-03
DOID:1388	Tangier disease	skos:exactMatch	MIM:205400	Tangier disease	semapv:ManualMappingCuration	2017-10-03
DOID:13884	sick sinus syndrome	skos:exactMatch	MIM:PS608567	Sick sinus syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:13909	red-green color blindness	skos:exactMatch	MIM:303800	Colorblindness, deutan	semapv:ManualMappingCuration	2014-06-23
DOID:1391	Norum disease	skos:exactMatch	MIM:136120	Fish-eye disease	semapv:ManualMappingCuration	2017-10-03
DOID:1391	Norum disease	skos:exactMatch	MIM:245900	Norum disease	semapv:ManualMappingCuration	2017-10-03
DOID:13910	red color blindness	skos:exactMatch	MIM:303900	Colorblindness, protan	semapv:ManualMappingCuration	2014-06-23
DOID:1392	pseudopapilledema	skos:exactMatch	MIM:177800	PSEUDOPAPILLEDEMA	semapv:ManualMappingCuration	2018-08-22
DOID:13922	eosinophilic esophagitis	skos:exactMatch	MIM:610247	{Esophagitis, eosinophilic, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:13922	eosinophilic esophagitis	skos:exactMatch	MIM:613412	{Esophagitis, eosinophilic, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:13929	lacrimal duct obstruction	skos:exactMatch	MIM:149700	?Lacrimal duct defect	semapv:ManualMappingCuration	2017-10-10
DOID:13945	CADASIL	skos:exactMatch	MIM:PS125310	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1	semapv:ManualMappingCuration	2018-06-29
DOID:13994	cleidocranial dysplasia	skos:exactMatch	MIM:119600	Cleidocranial dysplasia, forme fruste, with brachydactyly	semapv:ManualMappingCuration	2017-10-03
DOID:14004	thoracic aortic aneurysm	skos:exactMatch	MIM:PS607086	Aortic aneurysm, familial thoracic 1	semapv:ManualMappingCuration	2019-03-21
DOID:14042	bipolar I disorder	skos:exactMatch	MIM:125480	{Major affective disorder 1}	semapv:ManualMappingCuration	2017-10-03
DOID:1405	primary angle-closure glaucoma	skos:exactMatch	MIM:618880	Glaucoma, primary closed-angle	semapv:ManualMappingCuration	2020-07-10
DOID:14080	glucocorticoid-remediable aldosteronism	skos:exactMatch	MIM:103900	Aldosteronism, glucocorticoid-remediable	semapv:ManualMappingCuration	2017-10-03
DOID:14116	multiple symmetric lipomatosis	skos:exactMatch	MIM:151800	Lipomatosis, multiple symmetric, with or without peripheral neuropathy	semapv:ManualMappingCuration	2018-08-21
DOID:14118	familial lipoprotein lipase deficiency	skos:exactMatch	MIM:238600	[High density lipoprotein cholesterol level QTL 11]	semapv:ManualMappingCuration	2017-10-03
DOID:1415	gyrate atrophy	skos:exactMatch	MIM:258870	Gyrate atrophy of choroid and retina with or without ornithinemia	semapv:ManualMappingCuration	2017-10-03
DOID:14175	von Hippel-Lindau disease	skos:exactMatch	MIM:193300	von Hippel-Lindau syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14179	X-linked agammaglobulinemia	skos:exactMatch	MIM:300755	Agammaglobulinemia, X-linked 1	semapv:ManualMappingCuration	2017-10-03
DOID:14218	dihydropyrimidine dehydrogenase deficiency	skos:exactMatch	MIM:274270	Dihydropyrimidine dehydrogenase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:14219	renal tubular acidosis	skos:exactMatch	MIM:179830	RENAL TUBULAR ACIDOSIS, PROXIMAL	semapv:ManualMappingCuration	2018-08-22
DOID:14221	abdominal obesity-metabolic syndrome 1	skos:exactMatch	MIM:605552	Abdominal obesity-metabolic syndrome 1	semapv:ManualMappingCuration	2017-07-21
DOID:14250	Down syndrome	skos:exactMatch	MIM:190685	Down syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14261	fragile X syndrome	skos:exactMatch	MIM:300624	Fragile X syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14264	benign neonatal seizures	skos:exactMatch	MIM:PS121200	Myokymia	semapv:ManualMappingCuration	2019-03-27
DOID:14268	sclerosing cholangitis	skos:exactMatch	MIM:617394	Sclerosing cholangitis, neonatal	semapv:ManualMappingCuration	2017-10-03
DOID:14283	primary hypertrophic osteoarthropathy	skos:exactMatch	MIM:119900	?Digital clubbing, isolated congenital	semapv:ManualMappingCuration	2017-10-03
DOID:14283	primary hypertrophic osteoarthropathy	skos:exactMatch	MIM:PS259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	semapv:ManualMappingCuration	2019-03-26
DOID:14289	Ebstein anomaly	skos:exactMatch	MIM:224700	EBSTEIN ANOMALY	semapv:ManualMappingCuration	2017-10-03
DOID:14291	Noonan syndrome with multiple lentigines	skos:exactMatch	MIM:PS151100	LEOPARD syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:14323	Marfan syndrome	skos:exactMatch	MIM:154700	Marfan syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14330	Parkinson's disease	skos:exactMatch	MIM:PS168600	{Parkinson disease, susceptibility to}	semapv:ManualMappingCuration	2019-03-19
DOID:14365	systemic primary carnitine deficiency disease	skos:exactMatch	MIM:212140	Carnitine deficiency, systemic primary	semapv:ManualMappingCuration	2017-10-03
DOID:1440	Machado-Joseph disease	skos:exactMatch	MIM:109150	Machado-Joseph disease	semapv:ManualMappingCuration	2017-10-03
DOID:1441	autosomal dominant cerebellar ataxia	skos:exactMatch	MIM:PS164400	Spinocerebellar ataxia 1	semapv:ManualMappingCuration	2019-03-21
DOID:14415	Legg-Calve-Perthes disease	skos:exactMatch	MIM:150600	Legg-Calve-Perthes disease	semapv:ManualMappingCuration	2017-10-03
DOID:14447	gonadal dysgenesis	skos:exactMatch	MIM:600171	GONADAL AGENESIS	semapv:ManualMappingCuration	2020-09-21
DOID:14448	46,XY sex reversal	skos:exactMatch	MIM:PS400044	46XY sex reversal 1	semapv:ManualMappingCuration	2019-03-27
DOID:14450	46 XX gonadal dysgenesis	skos:exactMatch	MIM:PS233300	Ovarian dysgenesis 1	semapv:ManualMappingCuration	2018-10-11
DOID:14451	hyperkalemic periodic paralysis	skos:exactMatch	MIM:170500	Hyperkalemic periodic paralysis	semapv:ManualMappingCuration	2017-10-03
DOID:14497	Wolman disease	skos:exactMatch	MIM:620151	Wolman disease	semapv:ManualMappingCuration	2023-06-06
DOID:14498	lipoid proteinosis	skos:exactMatch	MIM:247100	Urbach-Wiethe disease	semapv:ManualMappingCuration	2017-10-03
DOID:14499	Fabry disease	skos:exactMatch	MIM:301500	Fabry disease, cardiac variant	semapv:ManualMappingCuration	2017-10-03
DOID:14500	fucosidosis	skos:exactMatch	MIM:230000	Fucosidosis	semapv:ManualMappingCuration	2017-10-03
DOID:14501	Sjogren-Larsson syndrome	skos:exactMatch	MIM:270200	Sjogren-Larsson syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14502	cholesterol ester storage disease	skos:exactMatch	MIM:278000	Cholesteryl ester storage disease	semapv:ManualMappingCuration	2024-02-28
DOID:14503	neuronal ceroid lipofuscinosis	skos:exactMatch	MIM:PS256730	Ceroid lipofuscinosis, neuronal, 1	semapv:ManualMappingCuration	2018-06-29
DOID:14515	WAGR syndrome	skos:exactMatch	MIM:194072	Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:1455	geographic tongue	skos:exactMatch	MIM:137400	GEOGRAPHIC AND FISSURED TONGUE	semapv:ManualMappingCuration	2018-08-21
DOID:14557	primary pulmonary hypertension	skos:exactMatch	MIM:PS178600	Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated	semapv:ManualMappingCuration	2019-03-26
DOID:14669	acrodysostosis	skos:exactMatch	MIM:170700	PERIPHERAL DYSOSTOSIS	semapv:ManualMappingCuration	2022-11-14
DOID:14669	acrodysostosis	skos:exactMatch	MIM:PS101800	Acrodysostosis 1, with or without hormone resistance	semapv:ManualMappingCuration	2019-03-15
DOID:14670	hypertelorism, microtia, facial clefting syndrome	skos:exactMatch	MIM:239800	HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME	semapv:ManualMappingCuration	2018-08-21
DOID:14671	multiple intestinal atresia	skos:exactMatch	MIM:243150	Gastrointestinal defects and immunodeficiency syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14679	VACTERL association	skos:exactMatch	MIM:192350	VATER/VACTERL ASSOCIATION	semapv:ManualMappingCuration	2017-10-03
DOID:14681	Silver-Russell syndrome	skos:exactMatch	MIM:PS180860	Silver-Russell syndrome 1	semapv:ManualMappingCuration	2020-07-01
DOID:14683	Binder syndrome	skos:exactMatch	MIM:155050	MAXILLONASAL DYSPLASIA, BINDER TYPE	semapv:ManualMappingCuration	2018-08-21
DOID:14686	Axenfeld-Rieger syndrome	skos:exactMatch	MIM:PS180500	Axenfeld-Rieger syndrome, type 1	semapv:ManualMappingCuration	2019-03-15
DOID:14687	diastrophic dysplasia	skos:exactMatch	MIM:222600	Diastrophic dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:14692	Smith-Lemli-Opitz syndrome	skos:exactMatch	MIM:270400	Smith-Lemli-Opitz syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14693	Clouston syndrome	skos:exactMatch	MIM:129500	Ectodermal dysplasia 2, Clouston type	semapv:ManualMappingCuration	2017-10-03
DOID:14694	Johanson-Blizzard syndrome	skos:exactMatch	MIM:243800	Johanson-Blizzard syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14695	galactokinase deficiency	skos:exactMatch	MIM:230200	Galactokinase deficiency with cataracts	semapv:ManualMappingCuration	2018-01-25
DOID:14699	thrombocytopenia-absent radius syndrome	skos:exactMatch	MIM:274000	Thrombocytopenia-absent radius syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:1470	major depressive disorder	skos:exactMatch	MIM:608516	{Major depressive disorder, response to citalopram therapy in}	semapv:ManualMappingCuration	2017-10-03
DOID:14701	propionic acidemia	skos:exactMatch	MIM:606054	Propionicacidemia	semapv:ManualMappingCuration	2017-10-03
DOID:14702	branchiootorenal syndrome	skos:exactMatch	MIM:PS166780	?Otofaciocervical syndrome	semapv:ManualMappingCuration	2019-03-27
DOID:14705	Pfeiffer syndrome	skos:exactMatch	MIM:101600	Pfeiffer syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14711	FG syndrome	skos:exactMatch	MIM:PS305450	Opitz-Kaveggia syndrome	semapv:ManualMappingCuration	2020-04-29
DOID:14717	centronuclear myopathy	skos:exactMatch	MIM:PS160150	{Centronuclear myopathy, autosomal, modifier of}	semapv:ManualMappingCuration	2019-03-19
DOID:14720	Ehlers-Danlos syndrome classic type 1	skos:exactMatch	MIM:130000	Ehlers-Danlos syndrome, classic type, 1	semapv:ManualMappingCuration	2016-04-05
DOID:14723	beta-ketothiolase deficiency	skos:exactMatch	MIM:203750	Alpha-methylacetoacetic aciduria	semapv:ManualMappingCuration	2017-10-03
DOID:14725	autosomal dominant microcephaly	skos:exactMatch	MIM:156580	MICROCEPHALY, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2018-08-21
DOID:14731	Weaver syndrome	skos:exactMatch	MIM:277590	Weaver syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14735	hereditary angioedema	skos:exactMatch	MIM:PS106100	Angioedema, hereditary, 1 and 2	semapv:ManualMappingCuration	2021-11-15
DOID:14737	craniofrontonasal syndrome	skos:exactMatch	MIM:304110	Craniofrontonasal dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:1474	aggressive periodontitis	skos:exactMatch	MIM:170650	Periodontitis 1, juvenile	semapv:ManualMappingCuration	2017-10-03
DOID:14743	trichorhinophalangeal syndrome type I	skos:exactMatch	MIM:190350	Trichorhinophalangeal syndrome, type I	semapv:ManualMappingCuration	2017-10-03
DOID:14744	Partington syndrome	skos:exactMatch	MIM:309510	Partington syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14748	Sotos syndrome	skos:exactMatch	MIM:PS117550	Sotos syndrome	semapv:ManualMappingCuration	2019-03-20
DOID:14753	isovaleric acidemia	skos:exactMatch	MIM:243500	Isovaleric acidemia	semapv:ManualMappingCuration	2017-10-03
DOID:14755	argininosuccinic aciduria	skos:exactMatch	MIM:207900	Argininosuccinic aciduria	semapv:ManualMappingCuration	2017-10-03
DOID:14756	vascular type Ehlers-Danlos syndrome	skos:exactMatch	MIM:130050	Ehlers-Danlos syndrome, vascular type	semapv:ManualMappingCuration	2018-06-19
DOID:14757	Ehlers-Danlos syndrome hypermobility type	skos:exactMatch	MIM:130020	EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE	semapv:ManualMappingCuration	2017-10-03
DOID:14761	Greig cephalopolysyndactyly syndrome	skos:exactMatch	MIM:175700	Greig cephalopolysyndactyly syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14762	calcaneonavicular coalition	skos:exactMatch	MIM:186400	SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL	semapv:ManualMappingCuration	2018-08-22
DOID:14764	Larsen syndrome	skos:exactMatch	MIM:150250	Larsen syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:14766	renal agenesis	skos:exactMatch	MIM:PS191830	Renal hypodysplasia/aplasia 1	semapv:ManualMappingCuration	2019-03-15
DOID:14768	Saethre-Chotzen syndrome	skos:exactMatch	MIM:101400	Saethre-Chotzen syndrome	semapv:ManualMappingCuration	2018-07-24
DOID:14773	cartilage-hair hypoplasia	skos:exactMatch	MIM:250250	Cartilage-hair hypoplasia	semapv:ManualMappingCuration	2017-10-03
DOID:14775	brittle cornea syndrome 1	skos:exactMatch	MIM:229200	Brittle cornea syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome	skos:exactMatch	MIM:110100	Blepharophimosis, epicanthus inversus, and ptosis, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:14780	KBG syndrome	skos:exactMatch	MIM:148050	KBG syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:14789	spondyloepiphyseal dysplasia congenita	skos:exactMatch	MIM:183900	SED congenita	semapv:ManualMappingCuration	2017-10-03
DOID:14791	Leber congenital amaurosis	skos:exactMatch	MIM:PS204000	Leber congenital amaurosis 1	semapv:ManualMappingCuration	2018-06-29
DOID:14796	Dubowitz syndrome	skos:exactMatch	MIM:223370	DUBOWITZ SYNDROME	semapv:ManualMappingCuration	2018-08-22
DOID:14798	Blount's disease	skos:exactMatch	MIM:188700	BLOUNT DISEASE, INFANTILE	semapv:ManualMappingCuration	2018-08-21
DOID:14798	Blount's disease	skos:exactMatch	MIM:259200	BLOUNT DISEASE, ADOLESCENT	semapv:ManualMappingCuration	2018-08-22
DOID:1485	cystic fibrosis	skos:exactMatch	MIM:219700	Cystic fibrosis	semapv:ManualMappingCuration	2017-10-03
DOID:1485	cystic fibrosis	skos:exactMatch	MIM:603855	{Meconium ileus in cystic fibrosis, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:1540	parathyroid carcinoma	skos:exactMatch	MIM:608266	Parathyroid carcinoma	semapv:ManualMappingCuration	2017-10-03
DOID:1554	vibratory urticaria	skos:exactMatch	MIM:125630	Vibratory urticaria	semapv:ManualMappingCuration	2017-10-03
DOID:1572	normal pressure hydrocephalus	skos:exactMatch	MIM:236690	Hydrocephalus, normal pressure, 1	semapv:ManualMappingCuration	2017-10-03
DOID:1586	rheumatic fever	skos:exactMatch	MIM:268240	RHEUMATIC FEVER-RELATED ANTIGEN	semapv:ManualMappingCuration	2022-12-05
DOID:1588	thrombocytopenia	skos:exactMatch	MIM:PS313900	Thrombocytopenia, X-linked	semapv:ManualMappingCuration	2021-02-08
DOID:1588	thrombocytopenia	skos:exactMatch	MIM:PS613112	Macrothrombocytopenia, isolated, 1, autosomal dominant	semapv:ManualMappingCuration	2022-04-28
DOID:1612	breast cancer	skos:exactMatch	MIM:114480	Breast cancer, somatic	semapv:ManualMappingCuration	2018-07-11
DOID:1657	ventricular septal defect	skos:exactMatch	MIM:PS614429	Ventricular septal defect 1	semapv:ManualMappingCuration	2019-03-19
DOID:1682	congenital heart disease	skos:exactMatch	MIM:PS212093	Cardiac valvular dysplasia 1	semapv:ManualMappingCuration	2023-09-01
DOID:1697	ichthyosis	skos:exactMatch	MIM:PS146590	Ichthyosis histrix, Curth-Macklin type	semapv:ManualMappingCuration	2023-07-28
DOID:1700	X-linked ichthyosis	skos:exactMatch	MIM:308100	Ichthyosis, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:1702	ichthyosis vulgaris	skos:exactMatch	MIM:146700	Ichthyosis vulgaris	semapv:ManualMappingCuration	2017-10-03
DOID:1757	facial hemiatrophy	skos:exactMatch	MIM:141300	HEMIFACIAL ATROPHY, PROGRESSIVE	semapv:ManualMappingCuration	2018-08-22
DOID:1761	Melkersson-Rosenthal syndrome	skos:exactMatch	MIM:155900	?Melkersson-Rosenthal syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:1790	malignant mesothelioma	skos:exactMatch	MIM:156240	Mesothelioma, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:1793	pancreatic cancer	skos:exactMatch	MIM:260350	Pancreatic carcinoma, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:1793	pancreatic cancer	skos:exactMatch	MIM:606856	{Pancreatic cancer, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:1793	pancreatic cancer	skos:exactMatch	MIM:613347	{Pancreatic cancer 2}	semapv:ManualMappingCuration	2017-10-03
DOID:1793	pancreatic cancer	skos:exactMatch	MIM:613348	{Pancreatic cancer, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:1793	pancreatic cancer	skos:exactMatch	MIM:614320	{Pancreatic cancer, susceptibility to, 4}	semapv:ManualMappingCuration	2019-11-27
DOID:1793	pancreatic cancer	skos:exactMatch	MIM:618680	{?Pancreatic cancer, susceptibility to, 5}	semapv:ManualMappingCuration	2019-11-27
DOID:1811	reflex sympathetic dystrophy	skos:exactMatch	MIM:604335	REFLEX SYMPATHETIC DYSTROPHY	semapv:ManualMappingCuration	2018-08-21
DOID:1825	childhood absence epilepsy	skos:exactMatch	MIM:PS600131	Epilepsy, childhood absence, 1	semapv:ManualMappingCuration	2020-03-23
DOID:1826	epilepsy	skos:exactMatch	MIM:PS617290	Epilepsy, early-onset, 1, vitamin B6-dependent	semapv:ManualMappingCuration	2023-10-09
DOID:1827	idiopathic generalized epilepsy	skos:exactMatch	MIM:600669	{Epilepsy, idiopathic generalized, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:1827	idiopathic generalized epilepsy	skos:exactMatch	MIM:PS600669	{Epilepsy, idiopathic generalized, susceptibility to, 1}	semapv:ManualMappingCuration	2019-10-07
DOID:1837	diabetic ketoacidosis	skos:exactMatch	MIM:612227	{Diabetes mellitus, ketosis-prone, susceptibility to}	semapv:ManualMappingCuration	2018-04-16
DOID:1838	Menkes disease	skos:exactMatch	MIM:309400	Menkes disease	semapv:ManualMappingCuration	2017-10-03
DOID:1856	cherubism	skos:exactMatch	MIM:118400	Cherubism	semapv:ManualMappingCuration	2017-10-03
DOID:1858	McCune Albright syndrome	skos:exactMatch	MIM:174800	MCCUNE-ALBRIGHT SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:1882	atrial heart septal defect	skos:exactMatch	MIM:PS108800	Atrial septal defect 1	semapv:ManualMappingCuration	2018-06-29
DOID:1883	hepatitis C	skos:exactMatch	MIM:609532	{Hepatitis C virus, resistance to}	semapv:ManualMappingCuration	2017-10-03
DOID:1919	Lesch-Nyhan syndrome	skos:exactMatch	MIM:300322	Lesch-Nyhan syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:1924	hypogonadism	skos:exactMatch	MIM:241100	HYPOGONADISM, MALE	semapv:ManualMappingCuration	2018-08-22
DOID:1925	Coffin-Siris syndrome	skos:exactMatch	MIM:PS135900	Coffin-Siris syndrome 1	semapv:ManualMappingCuration	2018-10-11
DOID:1928	Williams-Beuren syndrome	skos:exactMatch	MIM:194050	Williams-Beuren syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:1929	supravalvular aortic stenosis	skos:exactMatch	MIM:185500	Supravalvar aortic stenosis	semapv:ManualMappingCuration	2017-10-03
DOID:1930	Laurence-Moon syndrome	skos:exactMatch	MIM:245800	?Laurence-Moon syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:1932	Angelman syndrome	skos:exactMatch	MIM:105830	Angelman syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:1933	Rubinstein-Taybi syndrome	skos:exactMatch	MIM:180849	Rubinstein-Taybi syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:1933	Rubinstein-Taybi syndrome	skos:exactMatch	MIM:613684	Rubinstein-Taybi syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:1933	Rubinstein-Taybi syndrome	skos:exactMatch	MIM:PS180849	Rubinstein-Taybi syndrome 1	semapv:ManualMappingCuration	2019-03-28
DOID:1935	Bardet-Biedl syndrome	skos:exactMatch	MIM:PS209900	{Bardet-Biedl syndrome 1, modifier of}	semapv:ManualMappingCuration	2018-06-29
DOID:1936	atherosclerosis	skos:exactMatch	MIM:108725	{Atherosclerosis, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:2012	Nezelof syndrome	skos:exactMatch	MIM:242700	T-CELL IMMUNODEFICIENCY WITH THYMIC APLASIA	semapv:ManualMappingCuration	2018-08-22
DOID:2030	anxiety disorder	skos:exactMatch	MIM:607834	{Anxiety-related personality traits}	semapv:ManualMappingCuration	2017-10-03
DOID:2043	hepatitis B	skos:exactMatch	MIM:610424	{Hepatitis B virus, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:2058	chronic mucocutaneous candidiasis	skos:exactMatch	MIM:PS114580	Candidiasis, familial, 1, autosomal dominant	semapv:ManualMappingCuration	2019-03-26
DOID:2120	focal dermal hypoplasia	skos:exactMatch	MIM:305600	Focal dermal hypoplasia	semapv:ManualMappingCuration	2017-10-03
DOID:2121	ectodermal dysplasia	skos:exactMatch	MIM:PS305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	semapv:ManualMappingCuration	2018-10-11
DOID:2154	nephroblastoma	skos:exactMatch	MIM:194070	Wilms tumor	semapv:ManualMappingCuration	2017-10-03
DOID:2154	nephroblastoma	skos:exactMatch	MIM:PS194070	Wilms tumor	semapv:ManualMappingCuration	2019-03-27
DOID:2156	ovarian germ cell cancer	skos:exactMatch	MIM:603737	OVARIAN GERM CELL CANCER	semapv:ManualMappingCuration	2018-08-22
DOID:2187	amelogenesis imperfecta	skos:exactMatch	MIM:PS104500	Amelogenesis imperfecta, type IB	semapv:ManualMappingCuration	2018-06-29
DOID:2215	factor VII deficiency	skos:exactMatch	MIM:227500	Factor VII deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:2216	factor V deficiency	skos:exactMatch	MIM:227400	Factor V deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:2217	Bernard-Soulier syndrome	skos:exactMatch	MIM:231200	Giant platelet disorder, isolated	semapv:ManualMappingCuration	2017-10-03
DOID:2218	blood platelet disease	skos:exactMatch	MIM:PS231200	Giant platelet disorder, isolated	semapv:ManualMappingCuration	2019-03-27
DOID:2219	Glanzmann's thrombasthenia	skos:exactMatch	MIM:PS273800	Glanzmann thrombasthenia 1	semapv:ManualMappingCuration	2022-04-25
DOID:2222	factor X deficiency	skos:exactMatch	MIM:227600	Factor X deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:2223	platelet storage pool deficiency	skos:exactMatch	MIM:185050	STORAGE POOL PLATELET DISEASE	semapv:ManualMappingCuration	2017-10-03
DOID:2224	essential thrombocythemia	skos:exactMatch	MIM:187950	Thrombocythemia 1	semapv:ManualMappingCuration	2017-10-03
DOID:2226	myeloproliferative neoplasm	skos:exactMatch	MIM:616871	{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}	semapv:ManualMappingCuration	2023-01-16
DOID:2228	thrombocytosis	skos:exactMatch	MIM:PS187950	Thrombocythemia 1	semapv:ManualMappingCuration	2019-03-26
DOID:2229	factor XI deficiency	skos:exactMatch	MIM:612416	Factor XI deficiency, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:2231	factor XII deficiency	skos:exactMatch	MIM:234000	Factor XII deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:2236	congenital afibrinogenemia	skos:exactMatch	MIM:202400	Afibrinogenemia, congenital	semapv:ManualMappingCuration	2015-12-10
DOID:2247	spondylosis	skos:exactMatch	MIM:184300	SPONDYLOSIS, CERVICAL	semapv:ManualMappingCuration	2018-08-22
DOID:2277	gonadal disease	skos:exactMatch	MIM:PS176400	?Precocious puberty, central, 1	semapv:ManualMappingCuration	2019-03-28
DOID:2280	hidradenitis suppurativa	skos:exactMatch	MIM:PS142690	Acne inversa, familial, 1	semapv:ManualMappingCuration	2019-03-26
DOID:230	lateral sclerosis	skos:exactMatch	MIM:611637	Primary lateral sclerosis, adult, 1	semapv:ManualMappingCuration	2017-10-03
DOID:2339	Crouzon syndrome	skos:exactMatch	MIM:123500	Crouzon syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:2340	craniosynostosis	skos:exactMatch	MIM:123100	Craniosynostosis 1	semapv:ManualMappingCuration	2017-10-03
DOID:2340	craniosynostosis	skos:exactMatch	MIM:PS123100	Craniosynostosis 1	semapv:ManualMappingCuration	2019-03-27
DOID:2352	hemochromatosis	skos:exactMatch	MIM:PS235200	Hemochromatosis, type 1	semapv:ManualMappingCuration	2018-06-29
DOID:2366	West Nile fever	skos:exactMatch	MIM:610379	{West nile virus, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:2377	multiple sclerosis	skos:exactMatch	MIM:126200	{Multiple sclerosis, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:2377	multiple sclerosis	skos:exactMatch	MIM:612594	{Multiple sclerosis, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:2377	multiple sclerosis	skos:exactMatch	MIM:612595	{Multiple sclerosis, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:2377	multiple sclerosis	skos:exactMatch	MIM:612596	{Multiple sclerosis, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:2377	multiple sclerosis	skos:exactMatch	MIM:614810	{Multiple sclerosis, susceptibility to, 5}	semapv:ManualMappingCuration	2020-09-29
DOID:2377	multiple sclerosis	skos:exactMatch	MIM:PS126200	{Multiple sclerosis, susceptibility to, 1}	semapv:ManualMappingCuration	2019-03-27
DOID:2394	ovarian cancer	skos:exactMatch	MIM:167000	Ovarian cancer, somatic	semapv:ManualMappingCuration	2019-02-13
DOID:2394	ovarian cancer	skos:exactMatch	MIM:607893	{Ovarian cancer, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:2436	glomangioma	skos:exactMatch	MIM:138000	Glomuvenous malformations	semapv:ManualMappingCuration	2023-11-30
DOID:2452	thrombophilia	skos:exactMatch	MIM:PS188050	{Venous thromboembolism, susceptibility to}	semapv:ManualMappingCuration	2019-03-27
DOID:2476	hereditary spastic paraplegia	skos:exactMatch	MIM:PS303350	MASA syndrome	semapv:ManualMappingCuration	2018-06-29
DOID:2508	Takayasu's arteritis	skos:exactMatch	MIM:207600	TAKAYASU ARTERITIS	semapv:ManualMappingCuration	2018-08-23
DOID:2512	nevoid basal cell carcinoma syndrome	skos:exactMatch	MIM:PS109400	Basal cell nevus syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:2513	basal cell carcinoma	skos:exactMatch	MIM:605462	Basal cell carcinoma, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:2513	basal cell carcinoma	skos:exactMatch	MIM:613058	{Basal cell carcinoma, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:2513	basal cell carcinoma	skos:exactMatch	MIM:613059	{Basal cell carcinoma, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:2513	basal cell carcinoma	skos:exactMatch	MIM:613061	{Basal cell carcinoma, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:2513	basal cell carcinoma	skos:exactMatch	MIM:613062	{Basal cell carcinoma, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:2513	basal cell carcinoma	skos:exactMatch	MIM:613063	{Basal cell carcinoma, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:2513	basal cell carcinoma	skos:exactMatch	MIM:614740	{Basal cell carcinoma 7}	semapv:ManualMappingCuration	2015-06-08
DOID:2526	prostate adenocarcinoma	skos:exactMatch	MIM:601188	Prostate adenocarcinoma	semapv:ManualMappingCuration	2022-12-06
DOID:2548	reflex epilepsy	skos:exactMatch	MIM:132300	EPILEPSY, READING	semapv:ManualMappingCuration	2022-11-29
DOID:2559	opiate dependence	skos:exactMatch	MIM:610064	{Opioid dependence, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:2565	macular corneal dystrophy	skos:exactMatch	MIM:217800	Macular corneal dystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:2571	Langerhans-cell histiocytosis	skos:exactMatch	MIM:604856	LANGERHANS CELL HISTIOCYTOSIS	semapv:ManualMappingCuration	2018-08-21
DOID:2580	rhizomelic chondrodysplasia punctata	skos:exactMatch	MIM:PS215100	Rhizomelic chondrodysplasia punctata, type 1	semapv:ManualMappingCuration	2018-06-29
DOID:2581	chondrodysplasia punctata	skos:exactMatch	MIM:215105	CHONDRODYSPLASIA PUNCTATA SYNDROME	semapv:ManualMappingCuration	2018-08-22
DOID:2582	acatalasia	skos:exactMatch	MIM:614097	Acatalasemia	semapv:ManualMappingCuration	2017-10-10
DOID:2583	agammaglobulinemia	skos:exactMatch	MIM:PS601495	Agammaglobulinemia 1	semapv:ManualMappingCuration	2019-03-26
DOID:2590	familial nephrotic syndrome	skos:exactMatch	MIM:PS256300	Nephrotic syndrome, type 1	semapv:ManualMappingCuration	2018-06-20
DOID:2626	choroid plexus papilloma	skos:exactMatch	MIM:260500	{Choroid plexus papilloma}	semapv:ManualMappingCuration	2017-10-03
DOID:2717	Bloom syndrome	skos:exactMatch	MIM:210900	Bloom syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:2729	dyskeratosis congenita	skos:exactMatch	MIM:PS127550	Dyskeratosis congenita, autosomal dominant 1	semapv:ManualMappingCuration	2018-06-29
DOID:2732	Rothmund-Thomson syndrome	skos:exactMatch	MIM:PS268400	Rothmund-Thomson syndrome, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:2734	keratosis follicularis	skos:exactMatch	MIM:124200	Darier disease	semapv:ManualMappingCuration	2017-10-03
DOID:2736	Hajdu-Cheney syndrome	skos:exactMatch	MIM:102500	Hajdu-Cheney syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:2738	pseudoxanthoma elasticum	skos:exactMatch	MIM:177850	Pseudoxanthoma elasticum, forme fruste	semapv:ManualMappingCuration	2017-10-03
DOID:2738	pseudoxanthoma elasticum	skos:exactMatch	MIM:264800	{Pseudoxanthoma elasticum, modifier of severity of}	semapv:ManualMappingCuration	2017-10-03
DOID:2739	Gilbert syndrome	skos:exactMatch	MIM:143500	[Gilbert syndrome]	semapv:ManualMappingCuration	2017-10-03
DOID:2741	bilirubin metabolic disorder	skos:exactMatch	MIM:PS237450	Hyperbilirubinemia, Rotor type, digenic	semapv:ManualMappingCuration	2019-03-26
DOID:2746	glycogen storage disease V	skos:exactMatch	MIM:232600	McArdle disease	semapv:ManualMappingCuration	2017-10-03
DOID:2747	glycogen storage disease	skos:exactMatch	MIM:PS232200	Glycogen storage disease Ia	semapv:ManualMappingCuration	2024-09-30
DOID:2747	glycogen storage disease	skos:exactMatch	MIM:PS615895	Polyglucosan body myopathy 1 with or without immunodeficiency	semapv:ManualMappingCuration	2019-03-27
DOID:2748	glycogen storage disease III	skos:exactMatch	MIM:232400	Glycogen storage disease IIIb	semapv:ManualMappingCuration	2017-10-03
DOID:2749	glycogen storage disease Ia	skos:exactMatch	MIM:232200	Glycogen storage disease Ia	semapv:ManualMappingCuration	2017-10-03
DOID:2750	glycogen storage disease IV	skos:exactMatch	MIM:232500	Glycogen storage disease IV	semapv:ManualMappingCuration	2017-10-03
DOID:2752	glycogen storage disease II	skos:exactMatch	MIM:232300	Glycogen storage disease II	semapv:ManualMappingCuration	2017-10-03
DOID:2754	glycogen storage disease VI	skos:exactMatch	MIM:232700	Glycogen storage disease VI	semapv:ManualMappingCuration	2017-10-03
DOID:2775	long bone adamantinoma	skos:exactMatch	MIM:102660	ADAMANTINOMA OF LONG BONES	semapv:ManualMappingCuration	2018-05-08
DOID:2785	Dandy-Walker syndrome	skos:exactMatch	MIM:220200	Dandy-Walker syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:2841	asthma	skos:exactMatch	MIM:600807	{Asthma, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:2841	asthma	skos:exactMatch	MIM:601690	Platelet-activating factor acetylhydrolase deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:2841	asthma	skos:exactMatch	MIM:607277	{Asthma, susceptibility to, 1}	semapv:ManualMappingCuration	2014-06-23
DOID:2841	asthma	skos:exactMatch	MIM:608584	{Asthma, susceptibility to, 2}	semapv:ManualMappingCuration	2014-06-23
DOID:2841	asthma	skos:exactMatch	MIM:609958	{Asthma-related traits, susceptibility to, 3}	semapv:ManualMappingCuration	2014-06-23
DOID:2841	asthma	skos:exactMatch	MIM:610906	{Asthma-related traits, susceptibility to, 4}	semapv:ManualMappingCuration	2014-06-23
DOID:2841	asthma	skos:exactMatch	MIM:611064	{Asthma susceptibility 5}	semapv:ManualMappingCuration	2014-06-23
DOID:2841	asthma	skos:exactMatch	MIM:611403	{Asthma-related traits, susceptibility to, 6}	semapv:ManualMappingCuration	2014-06-23
DOID:2841	asthma	skos:exactMatch	MIM:611960	{Asthma-related traits, susceptibility to, 7}	semapv:ManualMappingCuration	2014-06-23
DOID:2841	asthma	skos:exactMatch	MIM:613207	{Asthma-related traits, susceptibility to, 8}	semapv:ManualMappingCuration	2014-06-23
DOID:2842	Jervell-Lange Nielsen syndrome	skos:exactMatch	MIM:220400	Jervell and Lange-Nielsen syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:2842	Jervell-Lange Nielsen syndrome	skos:exactMatch	MIM:PS220400	Jervell and Lange-Nielsen syndrome	semapv:ManualMappingCuration	2019-03-26
DOID:2843	long QT syndrome	skos:exactMatch	MIM:PS192500	Long QT syndrome 1	semapv:ManualMappingCuration	2019-03-19
DOID:288	endometriosis of uterus	skos:exactMatch	MIM:600458	ADENOMYOSIS	semapv:ManualMappingCuration	2018-08-22
DOID:289	endometriosis	skos:exactMatch	MIM:131200	{Endometriosis, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:2907	Goldenhar syndrome	skos:exactMatch	MIM:141400	HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS	semapv:ManualMappingCuration	2017-10-03
DOID:2907	Goldenhar syndrome	skos:exactMatch	MIM:164210	Craniofacial microsomia	semapv:ManualMappingCuration	2017-10-03
DOID:2908	Treacher Collins syndrome	skos:exactMatch	MIM:PS154500	Treacher Collins syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:2920	membranoproliferative glomerulonephritis	skos:exactMatch	MIM:PS137950	Glomerulopathy with fibronectin deposits 1	semapv:ManualMappingCuration	2019-03-28
DOID:2926	Klippel-Trenaunay syndrome	skos:exactMatch	MIM:149000	Klippel-Trenaunay-Weber syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:2935	Chediak-Higashi syndrome	skos:exactMatch	MIM:214500	Chediak-Higashi syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:2938	Epstein-Barr virus infectious disease	skos:exactMatch	MIM:132850	EPSTEIN-BARR VIRUS INSERTION SITE 1	semapv:ManualMappingCuration	2024-08-15
DOID:2951	motion sickness	skos:exactMatch	MIM:158280	MOTION SICKNESS	semapv:ManualMappingCuration	2018-08-21
DOID:2977	primary hyperoxaluria	skos:exactMatch	MIM:PS259900	Hyperoxaluria, primary, type 1	semapv:ManualMappingCuration	2019-03-20
DOID:2986	IgA glomerulonephritis	skos:exactMatch	MIM:161950	{IgA nephropathy, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:2986	IgA glomerulonephritis	skos:exactMatch	MIM:613944	{IgA nephropathy, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:2986	IgA glomerulonephritis	skos:exactMatch	MIM:616818	{?IgA nephropathy, susceptibility to, 3}	semapv:ManualMappingCuration	2016-03-10
DOID:2986	IgA glomerulonephritis	skos:exactMatch	MIM:PS161950	{IgA nephropathy, susceptibility to, 1}	semapv:ManualMappingCuration	2019-03-27
DOID:2987	familial Mediterranean fever	skos:exactMatch	MIM:249100	Familial Mediterranean fever, AR	semapv:ManualMappingCuration	2017-10-03
DOID:3012	Li-Fraumeni syndrome	skos:exactMatch	MIM:PS151623	Li-Fraumeni syndrome	semapv:ManualMappingCuration	2019-03-26
DOID:303	substance-related disorder	skos:exactMatch	MIM:606581	{Drug addiction, susceptibility to}	semapv:ManualMappingCuration	2017-10-10
DOID:3052	Balkan nephropathy	skos:exactMatch	MIM:124100	DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY	semapv:ManualMappingCuration	2018-08-22
DOID:3070	high grade glioma	skos:exactMatch	MIM:137800	{Glioma susceptibility 1}	semapv:ManualMappingCuration	2017-10-03
DOID:3070	high grade glioma	skos:exactMatch	MIM:607248	{Glioma susceptibility 4}	semapv:ManualMappingCuration	2017-10-03
DOID:3070	high grade glioma	skos:exactMatch	MIM:613028	{Glioma susceptibility 2}	semapv:ManualMappingCuration	2017-10-03
DOID:3070	high grade glioma	skos:exactMatch	MIM:613029	{Glioblastoma 3}	semapv:ManualMappingCuration	2017-10-03
DOID:3070	high grade glioma	skos:exactMatch	MIM:613030	{Glioma susceptibility 5}	semapv:ManualMappingCuration	2017-10-03
DOID:3070	high grade glioma	skos:exactMatch	MIM:613031	{Glioma susceptibility 6}	semapv:ManualMappingCuration	2017-10-03
DOID:3070	high grade glioma	skos:exactMatch	MIM:613032	{Glioma susceptibility 7}	semapv:ManualMappingCuration	2022-10-24
DOID:3070	high grade glioma	skos:exactMatch	MIM:613033	{Glioma susceptibility 8}	semapv:ManualMappingCuration	2017-10-03
DOID:3070	high grade glioma	skos:exactMatch	MIM:616568	null	semapv:ManualMappingCuration	2017-10-10
DOID:3070	high grade glioma	skos:exactMatch	MIM:PS137800	{Glioma susceptibility 1}	semapv:ManualMappingCuration	2018-06-29
DOID:3082	interstitial lung disease	skos:exactMatch	MIM:PS619611	Interstitial lung disease 1	semapv:ManualMappingCuration	2021-11-19
DOID:3083	chronic obstructive pulmonary disease	skos:exactMatch	MIM:606963	{Pulmonary disease, chronic obstructive, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:310	MERRF Syndrome	skos:exactMatch	MIM:545000	MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS	semapv:ManualMappingCuration	2014-10-23
DOID:3125	multiple endocrine neoplasia	skos:exactMatch	MIM:PS131100	Multiple endocrine neoplasia 1	semapv:ManualMappingCuration	2019-03-26
DOID:3132	porphyria cutanea tarda	skos:exactMatch	MIM:176100	Porphyria, hepatoerythropoietic	semapv:ManualMappingCuration	2017-10-03
DOID:3138	acanthosis nigricans	skos:exactMatch	MIM:100600	ACANTHOSIS NIGRICANS	semapv:ManualMappingCuration	2018-08-22
DOID:3144	cutis laxa	skos:exactMatch	MIM:PS123700	Cutis laxa, autosomal dominant	semapv:ManualMappingCuration	2019-03-27
DOID:3145	hyperlipoproteinemia type III	skos:exactMatch	MIM:617347	Hyperlipoproteinemia, type III	semapv:ManualMappingCuration	2017-10-10
DOID:3156	hypomelanosis of Ito	skos:exactMatch	MIM:300337	HYPOMELANOSIS OF ITO	semapv:ManualMappingCuration	2014-06-23
DOID:3191	nemaline myopathy	skos:exactMatch	MIM:PS161800	Congenital myopathy 2A, typical, autosomal dominant	semapv:ManualMappingCuration	2018-06-29
DOID:3204	schwannomatosis	skos:exactMatch	MIM:PS162091	{Schwannomatosis-1, susceptibility to}	semapv:ManualMappingCuration	2019-03-27
DOID:3209	junctional epidermolysis bullosa	skos:exactMatch	MIM:PS226650	Epidermolysis bullosa, junctional 1A, intermediate	semapv:ManualMappingCuration	2022-06-07
DOID:321	tropical spastic paraparesis	skos:exactMatch	MIM:159580	MYELOPATHY, HTLV-1-ASSOCIATED	semapv:ManualMappingCuration	2017-10-03
DOID:3210	Pelizaeus-Merzbacher disease	skos:exactMatch	MIM:312080	Pelizaeus-Merzbacher disease	semapv:ManualMappingCuration	2017-10-03
DOID:3261	hyper IgE recurrent infection syndrome 1	skos:exactMatch	MIM:147060	Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections	semapv:ManualMappingCuration	2017-10-03
DOID:3263	piebaldism	skos:exactMatch	MIM:172800	Piebaldism	semapv:ManualMappingCuration	2017-10-03
DOID:3265	chronic granulomatous disease	skos:exactMatch	MIM:PS306400	Chronic granulomatous disease, X-linked	semapv:ManualMappingCuration	2019-03-20
DOID:3301	gonadoblastoma	skos:exactMatch	MIM:424500	GONADOBLASTOMA	semapv:ManualMappingCuration	2018-08-21
DOID:3302	chordoma	skos:exactMatch	MIM:215400	{Chordoma, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:3310	atopic dermatitis	skos:exactMatch	MIM:PS603165	{Dermatitis, atopic, susceptibility to, 1}	semapv:ManualMappingCuration	2018-06-29
DOID:3319	lymphangioleiomyomatosis	skos:exactMatch	MIM:606690	Lymphangioleiomyomatosis, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:332	amyotrophic lateral sclerosis	skos:exactMatch	MIM:PS105400	{Amyotrophic lateral sclerosis, susceptibility to}	semapv:ManualMappingCuration	2018-06-29
DOID:3320	Tay-Sachs disease	skos:exactMatch	MIM:272800	GM2-gangliosidosis, several forms	semapv:ManualMappingCuration	2017-10-03
DOID:3323	Sandhoff disease	skos:exactMatch	MIM:268800	Sandhoff disease, infantile, juvenile, and adult forms	semapv:ManualMappingCuration	2017-10-03
DOID:3328	temporal lobe epilepsy	skos:exactMatch	MIM:PS600512	Epilepsy, familial temporal lobe, 1	semapv:ManualMappingCuration	2019-03-27
DOID:3329	benign epilepsy with centrotemporal spikes	skos:exactMatch	MIM:117100	Centrotemporal epilepsy	semapv:ManualMappingCuration	2017-10-03
DOID:3345	xanthomatosis	skos:exactMatch	MIM:602247	XANTHOMATOSIS, SUSCEPTIBILITY TO	semapv:ManualMappingCuration	2022-11-14
DOID:3347	osteosarcoma	skos:exactMatch	MIM:259500	{Osteosarcoma}	semapv:ManualMappingCuration	2017-10-03
DOID:3369	Ewing sarcoma	skos:exactMatch	MIM:612219	Neuroepithelioma	semapv:ManualMappingCuration	2017-10-03
DOID:3371	chondrosarcoma	skos:exactMatch	MIM:215300	Chondrosarcoma	semapv:ManualMappingCuration	2017-10-03
DOID:3389	Papillon-Lefevre disease	skos:exactMatch	MIM:245000	Papillon-Lefevre syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:3413	alpha-mannosidosis	skos:exactMatch	MIM:248500	Mannosidosis, alpha-, types I and II	semapv:ManualMappingCuration	2017-10-03
DOID:3429	inclusion body myositis	skos:exactMatch	MIM:147421	INCLUSION BODY MYOSITIS	semapv:ManualMappingCuration	2017-10-03
DOID:3450	cutaneous Paget's disease	skos:exactMatch	MIM:167300	PAGET DISEASE, EXTRAMAMMARY	semapv:ManualMappingCuration	2022-11-29
DOID:348	blepharochalasis	skos:exactMatch	MIM:110000	BLEPHAROCHALASIS, SUPERIOR	semapv:ManualMappingCuration	2022-11-21
DOID:3490	Noonan syndrome	skos:exactMatch	MIM:PS163950	Noonan syndrome 1	semapv:ManualMappingCuration	2018-06-29
DOID:350	mastocytosis	skos:exactMatch	MIM:154800	Mastocytosis, cutaneous	semapv:ManualMappingCuration	2014-10-20
DOID:3507	dermatofibrosarcoma protuberans	skos:exactMatch	MIM:607907	Dermatofibrosarcoma protuberans	semapv:ManualMappingCuration	2017-10-10
DOID:3526	cerebral infarction	skos:exactMatch	MIM:601367	{Stroke, ischemic, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:3529	congenital myopathy 1A	skos:exactMatch	MIM:117000	Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia	semapv:ManualMappingCuration	2017-10-03
DOID:3534	Lafora disease	skos:exactMatch	MIM:PS254780	Myoclonic epilepsy of Lafora 1	semapv:ManualMappingCuration	2024-01-31
DOID:3535	Unverricht-Lundborg syndrome	skos:exactMatch	MIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	semapv:ManualMappingCuration	2019-11-12
DOID:3590	gestational trophoblastic neoplasm	skos:exactMatch	MIM:PS231090	Hydatidiform mole, recurrent, 1	semapv:ManualMappingCuration	2019-03-27
DOID:3613	Canavan disease	skos:exactMatch	MIM:271900	Canavan disease	semapv:ManualMappingCuration	2017-10-03
DOID:3633	beta-mannosidosis	skos:exactMatch	MIM:248510	Mannosidosis, beta	semapv:ManualMappingCuration	2018-08-22
DOID:3635	congenital myasthenic syndrome	skos:exactMatch	MIM:PS601462	Myasthenic syndrome, congenital, 1A, slow-channel	semapv:ManualMappingCuration	2018-06-29
DOID:3635	congenital myasthenic syndrome	skos:exactMatch	MIM:PS610542	Myasthenia, congenital, 12, with tubular aggregates	semapv:ManualMappingCuration	2019-03-27
DOID:3649	pyruvate decarboxylase deficiency	skos:exactMatch	MIM:312170	Pyruvate dehydrogenase E1-alpha deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:3649	pyruvate decarboxylase deficiency	skos:exactMatch	MIM:PS312170	Pyruvate dehydrogenase E1-alpha deficiency	semapv:ManualMappingCuration	2019-03-27
DOID:3651	pyruvate carboxylase deficiency disease	skos:exactMatch	MIM:266150	Pyruvate carboxylase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:3652	Leigh disease	skos:exactMatch	MIM:256000	LEIGH SYNDROME, NUCLEAR	semapv:ManualMappingCuration	2017-10-03
DOID:3659	sialuria	skos:exactMatch	MIM:269921	Sialuria	semapv:ManualMappingCuration	2017-10-03
DOID:3659	sialuria	skos:exactMatch	MIM:604369	Salla disease	semapv:ManualMappingCuration	2017-10-03
DOID:3687	MELAS syndrome	skos:exactMatch	MIM:540000	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	semapv:ManualMappingCuration	2017-10-03
DOID:3689	brachial plexus neuritis	skos:exactMatch	MIM:162100	Amyotrophy, hereditary neuralgic	semapv:ManualMappingCuration	2017-10-03
DOID:3748	esophagus squamous cell carcinoma	skos:exactMatch	MIM:133239	Esophageal cancer, somatic	semapv:ManualMappingCuration	2024-02-06
DOID:3753	Hermansky-Pudlak syndrome	skos:exactMatch	MIM:PS203300	Hermansky-Pudlak syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:3755	antithrombin III deficiency	skos:exactMatch	MIM:613118	Thrombophilia 7 due to antithrombin III deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:3762	cytochrome-c oxidase deficiency disease	skos:exactMatch	MIM:PS220110	Mitochondrial complex IV deficiency, nuclear type 1	semapv:ManualMappingCuration	2020-11-02
DOID:3764	Denys-Drash syndrome	skos:exactMatch	MIM:194080	Denys-Drash syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:3783	Coffin-Lowry syndrome	skos:exactMatch	MIM:303600	Coffin-Lowry syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:3803	Crigler-Najjar syndrome	skos:exactMatch	MIM:218800	Crigler-Najjar syndrome, type I	semapv:ManualMappingCuration	2017-10-03
DOID:3805	porokeratosis	skos:exactMatch	MIM:PS175800	Porokeratosis 1, multiple types	semapv:ManualMappingCuration	2019-03-27
DOID:3827	congenital diaphragmatic hernia	skos:exactMatch	MIM:142340	Diaphragmatic hernia 1	semapv:ManualMappingCuration	2017-10-03
DOID:3827	congenital diaphragmatic hernia	skos:exactMatch	MIM:PS142340	Diaphragmatic hernia 1	semapv:ManualMappingCuration	2022-10-11
DOID:3829	pituitary adenoma	skos:exactMatch	MIM:PS102200	Pituitary adenoma predisposition	semapv:ManualMappingCuration	2019-03-26
DOID:384	Wolff-Parkinson-White syndrome	skos:exactMatch	MIM:194200	Wolff-Parkinson-White syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:3852	Peutz-Jeghers syndrome	skos:exactMatch	MIM:175200	Peutz-Jeghers syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:3883	Lynch syndrome	skos:exactMatch	MIM:PS120435	Lynch syndrome 1	semapv:ManualMappingCuration	2019-03-26
DOID:3890	acute intermittent porphyria	skos:exactMatch	MIM:176000	Porphyria, acute intermittent	semapv:ManualMappingCuration	2017-10-03
DOID:3892	insulinoma	skos:exactMatch	MIM:606960	Insulinoma	semapv:ManualMappingCuration	2017-10-03
DOID:3908	lung non-small cell carcinoma	skos:exactMatch	MIM:603040	{Nonsmall cell lung cancer}	semapv:ManualMappingCuration	2014-06-23
DOID:3911	progeria	skos:exactMatch	MIM:176670	Hutchinson-Gilford progeria	semapv:ManualMappingCuration	2017-10-03
DOID:3928	adiposis dolorosa	skos:exactMatch	MIM:103200	ADIPOSIS DOLOROSA	semapv:ManualMappingCuration	2018-08-22
DOID:3969	papillary thyroid carcinoma	skos:exactMatch	MIM:PS188550	{Thyroid cancer, nonmedullary, 1}	semapv:ManualMappingCuration	2019-03-27
DOID:397	restrictive cardiomyopathy	skos:exactMatch	MIM:PS115210	Cardiomyopathy, familial restrictive, 1	semapv:ManualMappingCuration	2019-03-19
DOID:3981	pantothenate kinase-associated neurodegeneration	skos:exactMatch	MIM:234200	Neurodegeneration with brain iron accumulation 1	semapv:ManualMappingCuration	2017-10-03
DOID:399	tuberculosis	skos:exactMatch	MIM:300259	{Mycobacterium tuberculosis, susceptibility, X-linked}	semapv:ManualMappingCuration	2014-06-23
DOID:399	tuberculosis	skos:exactMatch	MIM:607948	{Tuberculosis, protection against}	semapv:ManualMappingCuration	2014-06-23
DOID:399	tuberculosis	skos:exactMatch	MIM:607949	{Tuberculosis, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:399	tuberculosis	skos:exactMatch	MIM:611046	{Mycobacterium tuberculosis, susceptibility to, 2}	semapv:ManualMappingCuration	2014-06-23
DOID:399	tuberculosis	skos:exactMatch	MIM:612929	{Mycobacterium tuberculosis, susceptibility to, 3}	semapv:ManualMappingCuration	2014-06-23
DOID:4022	ureterocele	skos:exactMatch	MIM:191650	URETEROCELE	semapv:ManualMappingCuration	2018-08-21
DOID:4028	angioma serpiginosum	skos:exactMatch	MIM:300652	Angio serpiginosum	semapv:ManualMappingCuration	2017-10-03
DOID:4051	alveolar rhabdomyosarcoma	skos:exactMatch	MIM:268220	Rhabdomyosarcoma 2, alveolar	semapv:ManualMappingCuration	2017-10-03
DOID:4154	dentinogenesis imperfecta	skos:exactMatch	MIM:125490	Dentinogenesis imperfecta, Shields type II	semapv:ManualMappingCuration	2017-10-03
DOID:417	autoimmune disease	skos:exactMatch	MIM:109100	AUTOIMMUNE DISEASE	semapv:ManualMappingCuration	2017-10-03
DOID:417	autoimmune disease	skos:exactMatch	MIM:613551	{Autoimmune disease, susceptibility to, 6}	semapv:ManualMappingCuration	2018-07-25
DOID:4175	Rh isoimmunization	skos:exactMatch	MIM:619462	{Hemolytic disease of fetus and newborn, RH-induced}	semapv:ManualMappingCuration	2017-10-18
DOID:4183	pseudopseudohypoparathyroidism	skos:exactMatch	MIM:612463	Pseudopseudohypoparathyroidism	semapv:ManualMappingCuration	2017-10-03
DOID:4186	articulation disorder	skos:exactMatch	MIM:608445	{Speech-sound disorder}	semapv:ManualMappingCuration	2017-10-03
DOID:423	myopathy	skos:exactMatch	MIM:PS160565	Myopathy, tubular aggregate, 1	semapv:ManualMappingCuration	2019-03-26
DOID:4239	alveolar soft part sarcoma	skos:exactMatch	MIM:606243	Alveolar soft-part sarcoma	semapv:ManualMappingCuration	2017-10-03
DOID:4249	Gerstmann-Straussler-Scheinker syndrome	skos:exactMatch	MIM:137440	Gerstmann-Straussler disease	semapv:ManualMappingCuration	2017-10-03
DOID:4252	Alexander disease	skos:exactMatch	MIM:203450	Alexander disease	semapv:ManualMappingCuration	2017-10-03
DOID:4253	melorheostosis	skos:exactMatch	MIM:155950	Melorheostosis, isolated, somatic mosaic	semapv:ManualMappingCuration	2017-10-03
DOID:4257	Caffey disease	skos:exactMatch	MIM:114000	Caffey disease	semapv:ManualMappingCuration	2017-10-03
DOID:4258	Weissenbacher-Zweymuller syndrome	skos:exactMatch	MIM:261800	Pierre Robin syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:4279	infundibulocystic basal cell carcinoma	skos:exactMatch	MIM:604451	BASAL CELL CARCINOMA, INFUNDIBULOCYSTIC	semapv:ManualMappingCuration	2018-08-21
DOID:4297	scimitar syndrome	skos:exactMatch	MIM:106700	Total anomalous pulmonary venous return	semapv:ManualMappingCuration	2017-10-03
DOID:4346	variegate porphyria	skos:exactMatch	MIM:176200	Variegate porphyria	semapv:ManualMappingCuration	2017-10-03
DOID:4367	apparent mineralocorticoid excess syndrome	skos:exactMatch	MIM:218030	Apparent mineralocorticoid excess	semapv:ManualMappingCuration	2014-10-20
DOID:437	myasthenia gravis	skos:exactMatch	MIM:254200	MYASTHENIA GRAVIS	semapv:ManualMappingCuration	2018-08-22
DOID:4400	dermatosis papulosa nigra	skos:exactMatch	MIM:125600	DERMATOSIS PAPULOSA NIGRA	semapv:ManualMappingCuration	2018-08-22
DOID:4423	sea-blue histiocytosis	skos:exactMatch	MIM:269600	Sea-blue histiocyte disease	semapv:ManualMappingCuration	2017-10-03
DOID:4428	dyslexia	skos:exactMatch	MIM:127700	{Dyslexia, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:4428	dyslexia	skos:exactMatch	MIM:300509	{Dyslexia, susceptibility to, 9}	semapv:ManualMappingCuration	2017-10-03
DOID:4428	dyslexia	skos:exactMatch	MIM:600202	{Dyslexia, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:4428	dyslexia	skos:exactMatch	MIM:604254	{Dyslexia, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:4428	dyslexia	skos:exactMatch	MIM:606616	{Dyslexia, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:4428	dyslexia	skos:exactMatch	MIM:606896	{Dyslexia, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:4428	dyslexia	skos:exactMatch	MIM:608995	{Dyslexia, susceptibility to, 8}	semapv:ManualMappingCuration	2017-10-03
DOID:4447	cystoid macular edema	skos:exactMatch	MIM:153880	Macular dystrophy, dominant cystoid	semapv:ManualMappingCuration	2017-11-21
DOID:4448	macular degeneration	skos:exactMatch	MIM:620762	Macular dystrophy with or without cone dysfunction	semapv:ManualMappingCuration	2024-05-23
DOID:445	Bartter disease	skos:exactMatch	MIM:PS601678	Bartter syndrome, type 1	semapv:ManualMappingCuration	2018-06-29
DOID:4450	renal cell carcinoma	skos:exactMatch	MIM:144700	Renal carcinoma, chromophobe, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:446	primary hyperaldosteronism	skos:exactMatch	MIM:PS103900	Aldosteronism, glucocorticoid-remediable	semapv:ManualMappingCuration	2019-03-20
DOID:4465	papillary renal cell carcinoma	skos:exactMatch	MIM:605074	Renal cell carcinoma, papillary, 1, familial and somatic	semapv:ManualMappingCuration	2018-09-17
DOID:4479	pseudohypoaldosteronism	skos:exactMatch	MIM:PS145260	Pseudohypoaldosteronism, type IIA	semapv:ManualMappingCuration	2019-03-19
DOID:4479	pseudohypoaldosteronism	skos:exactMatch	MIM:PS177735	Pseudohypoaldosteronism type I, autosomal dominant	semapv:ManualMappingCuration	2023-07-10
DOID:4480	achondroplasia	skos:exactMatch	MIM:100800	Achondroplasia	semapv:ManualMappingCuration	2017-10-03
DOID:4481	allergic rhinitis	skos:exactMatch	MIM:607154	{Allergic rhinitis, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:450	myotonic disease	skos:exactMatch	MIM:PS160900	Myotonic dystrophy 1	semapv:ManualMappingCuration	2019-03-27
DOID:4501	orofaciodigital syndrome	skos:exactMatch	MIM:PS311200	Orofaciodigital syndrome I	semapv:ManualMappingCuration	2019-04-22
DOID:452	pleomorphic adenoma	skos:exactMatch	MIM:181030	Adenomas, salivary gland pleomorphic, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:4534	Hallermann-Streiff syndrome	skos:exactMatch	MIM:234100	HALLERMANN-STREIFF SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:4535	hypotrichosis	skos:exactMatch	MIM:PS605389	Hypotrichosis 1	semapv:ManualMappingCuration	2018-06-29
DOID:4549	extraskeletal myxoid chondrosarcoma	skos:exactMatch	MIM:612237	Chondrosarcoma, extraskeletal myxoid	semapv:ManualMappingCuration	2017-10-03
DOID:456	ascariasis	skos:exactMatch	MIM:604291	ASCARIS LUMBRICOIDES INFECTION, SUSCEPTIBILITY TO	semapv:ManualMappingCuration	2022-11-21
DOID:4586	familial meningioma	skos:exactMatch	MIM:607174	{Meningioma, familial, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:4603	epidermolytic hyperkeratosis	skos:exactMatch	MIM:PS113800	Epidermolytic hyperkeratosis 1	semapv:ManualMappingCuration	2023-05-12
DOID:4603	epidermolytic hyperkeratosis	skos:exactMatch	MIM:PS607602	Ichthyosis, annular epidermolytic 1	semapv:ManualMappingCuration	2022-12-06
DOID:4621	holoprosencephaly	skos:exactMatch	MIM:PS236100	Holoprosencephaly 1	semapv:ManualMappingCuration	2019-03-26
DOID:4624	Ollier disease	skos:exactMatch	MIM:166000	ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE	semapv:ManualMappingCuration	2017-10-03
DOID:4644	epidermolysis bullosa simplex	skos:exactMatch	MIM:PS131760	Epidermolysis bullosa simplex 1A, generalized severe	semapv:ManualMappingCuration	2017-10-03
DOID:4674	androgen insensitivity syndrome	skos:exactMatch	MIM:300068	Androgen insensitivity	semapv:ManualMappingCuration	2017-10-03
DOID:4751	striatonigral degeneration	skos:exactMatch	MIM:PS271930	Striatonigral degeneration, infantile	semapv:ManualMappingCuration	2019-03-27
DOID:4795	GM2 Gangliosidosis, AB variant	skos:exactMatch	MIM:272750	GM2-gangliosidosis, AB variant	semapv:ManualMappingCuration	2017-10-03
DOID:4810	cerebrotendinous xanthomatosis	skos:exactMatch	MIM:213700	Cerebrotendinous xanthomatosis	semapv:ManualMappingCuration	2017-10-03
DOID:4837	Gorham's disease	skos:exactMatch	MIM:123880	CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE	semapv:ManualMappingCuration	2022-11-28
DOID:4890	juvenile myoclonic epilepsy	skos:exactMatch	MIM:254770	{Myoclonic epilepsy, juvenile, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:4890	juvenile myoclonic epilepsy	skos:exactMatch	MIM:PS254770	{Myoclonic epilepsy, juvenile, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:4959	epidermolysis bullosa dystrophica	skos:exactMatch	MIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:4971	myelofibrosis	skos:exactMatch	MIM:254450	Myelofibrosis, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:4990	essential tremor	skos:exactMatch	MIM:PS190300	{Essential tremor, hereditary, 1}	semapv:ManualMappingCuration	2019-03-26
DOID:4997	Camurati-Engelmann disease	skos:exactMatch	MIM:131300	Camurati-Engelmann disease	semapv:ManualMappingCuration	2017-10-03
DOID:4998	trichorhinophalangeal syndrome type II	skos:exactMatch	MIM:150230	Trichorhinophalangeal syndrome, type II	semapv:ManualMappingCuration	2017-10-03
DOID:50	thyroid gland disease	skos:exactMatch	MIM:PS609698	Thyroid hormone metabolism, abnormal, 1	semapv:ManualMappingCuration	2022-04-28
DOID:5052	melioidosis	skos:exactMatch	MIM:615557	{Melioidosis, susceptibility to}	semapv:ManualMappingCuration	2017-10-10
DOID:5117	dermoid cyst of ovary	skos:exactMatch	MIM:166950	TERATOMA, OVARIAN	semapv:ManualMappingCuration	2018-08-22
DOID:5204	fructose-1,6-bisphosphatase deficiency	skos:exactMatch	MIM:229700	Fructose-1,6-bisphosphatase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:5223	infertility	skos:exactMatch	MIM:PS616814	Oocyte/zygote/embryo maturation arrest 15	semapv:ManualMappingCuration	2019-03-27
DOID:526	human immunodeficiency virus infectious disease	skos:exactMatch	MIM:609423	{HIV-1, resistance to}	semapv:ManualMappingCuration	2017-10-03
DOID:5325	Roberts syndrome	skos:exactMatch	MIM:268300	Roberts-SC phocomelia syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:5327	retinal detachment	skos:exactMatch	MIM:180050	RETINAL DETACHMENT	semapv:ManualMappingCuration	2017-10-03
DOID:5339	cyclic hematopoiesis	skos:exactMatch	MIM:162800	Neutropenia, cyclic	semapv:ManualMappingCuration	2017-10-03
DOID:5362	focal epithelial hyperplasia	skos:exactMatch	MIM:136400	FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA	semapv:ManualMappingCuration	2022-11-29
DOID:5362	focal epithelial hyperplasia	skos:exactMatch	MIM:229045	FOCAL EPITHELIAL HYPERPLASIA, ORAL	semapv:ManualMappingCuration	2018-08-22
DOID:5363	myxoid liposarcoma	skos:exactMatch	MIM:613488	Myxoid liposarcoma	semapv:ManualMappingCuration	2017-10-03
DOID:5374	pilomatrixoma	skos:exactMatch	MIM:132600	Pilomatricoma, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:540	strabismus	skos:exactMatch	MIM:185100	{Strabismus, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:5408	Paget's disease of bone	skos:exactMatch	MIM:PS167250	Paget disease of bone 3	semapv:ManualMappingCuration	2019-03-21
DOID:5419	schizophrenia	skos:exactMatch	MIM:181500	{?Schizophrenia}	semapv:ManualMappingCuration	2017-10-03
DOID:5425	ovarian hyperstimulation syndrome	skos:exactMatch	MIM:276400	TWINNING, DIZYGOTIC	semapv:ManualMappingCuration	2022-12-06
DOID:5425	ovarian hyperstimulation syndrome	skos:exactMatch	MIM:608115	Ovarian hyperstimulation syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:5426	primary ovarian insufficiency	skos:exactMatch	MIM:PS311360	Premature ovarian failure 1	semapv:ManualMappingCuration	2019-03-27
DOID:543	dystonia	skos:exactMatch	MIM:PS128100	Dystonia-1, torsion	semapv:ManualMappingCuration	2019-03-20
DOID:543	dystonia	skos:exactMatch	MIM:PS128200	Episodic kinesigenic dyskinesia 1	semapv:ManualMappingCuration	2019-03-27
DOID:5453	pulmonary venoocclusive disease	skos:exactMatch	MIM:PS265450	Pulmonary venoocclusive disease 1	semapv:ManualMappingCuration	2019-03-27
DOID:5485	synovial sarcoma	skos:exactMatch	MIM:300813	?Sarcoma, synovial	semapv:ManualMappingCuration	2017-10-03
DOID:5520	head and neck squamous cell carcinoma	skos:exactMatch	MIM:275355	Squamous cell carcinoma, head and neck	semapv:ManualMappingCuration	2017-10-03
DOID:557	kidney disease	skos:exactMatch	MIM:602914	null	semapv:ManualMappingCuration	2014-10-20
DOID:5572	Beckwith-Wiedemann syndrome	skos:exactMatch	MIM:130650	Beckwith-Wiedemann syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:5585	Ferguson-Smith tumor	skos:exactMatch	MIM:132800	{Multiple self-healing squamous epithelioma, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:560	jaw-winking syndrome	skos:exactMatch	MIM:154600	MARCUS GUNN PHENOMENON	semapv:ManualMappingCuration	2018-08-21
DOID:5603	T-cell acute lymphoblastic leukemia	skos:exactMatch	MIM:151440	Leukemia, T-cell acute lymphoblastoid	semapv:ManualMappingCuration	2014-10-20
DOID:5683	hereditary breast ovarian cancer syndrome	skos:exactMatch	MIM:604370	{Breast-ovarian cancer, familial, 1}	semapv:ManualMappingCuration	2014-06-23
DOID:5683	hereditary breast ovarian cancer syndrome	skos:exactMatch	MIM:612555	{Breast-ovarian cancer, familial, 2}	semapv:ManualMappingCuration	2014-06-23
DOID:5683	hereditary breast ovarian cancer syndrome	skos:exactMatch	MIM:613399	{Breast-ovarian cancer, familial, susceptibility to, 3}	semapv:ManualMappingCuration	2014-06-23
DOID:5683	hereditary breast ovarian cancer syndrome	skos:exactMatch	MIM:614291	{Breast-ovarian cancer, familial, susceptibility to, 4}	semapv:ManualMappingCuration	2014-10-16
DOID:5683	hereditary breast ovarian cancer syndrome	skos:exactMatch	MIM:620442	{Breast-ovarian cancer, familial, susceptibility to, 5}	semapv:ManualMappingCuration	2023-07-25
DOID:5683	hereditary breast ovarian cancer syndrome	skos:exactMatch	MIM:PS604370	{Breast-ovarian cancer, familial, 1}	semapv:ManualMappingCuration	2019-03-19
DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type	skos:exactMatch	MIM:271510	Spondyloepimetaphyseal dysplasia, sponastrime type	semapv:ManualMappingCuration	2018-08-22
DOID:5688	Werner syndrome	skos:exactMatch	MIM:277700	Werner syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:5723	optic atrophy	skos:exactMatch	MIM:PS165500	Optic atrophy 1	semapv:ManualMappingCuration	2019-03-26
DOID:5768	Nager acrofacial dysostosis	skos:exactMatch	MIM:154400	Acrofacial dysostosis 1, Nager type	semapv:ManualMappingCuration	2017-10-03
DOID:580	uric acid nephrolithiasis	skos:exactMatch	MIM:605990	{Nephrolithiasis, uric acid, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:5806	stork bite	skos:exactMatch	MIM:163100	NEVUS FLAMMEUS OF NAPE OF NECK	semapv:ManualMappingCuration	2018-08-22
DOID:5810	adenosine deaminase deficiency	skos:exactMatch	MIM:102700	Adenosine deaminase deficiency, partial	semapv:ManualMappingCuration	2017-10-03
DOID:5812	MHC class II deficiency	skos:exactMatch	MIM:PS209920	MHC class II deficiency 1	semapv:ManualMappingCuration	2024-08-19
DOID:5813	purine nucleoside phosphorylase deficiency	skos:exactMatch	MIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:5844	myocardial infarction	skos:exactMatch	MIM:608446	{Myocardial infarction, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:5844	myocardial infarction	skos:exactMatch	MIM:608557	{Myocardial infarction, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:594	panic disorder	skos:exactMatch	MIM:167870	{Panic disorder, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:594	panic disorder	skos:exactMatch	MIM:607853	Panic disorder 2	semapv:ManualMappingCuration	2017-10-03
DOID:594	panic disorder	skos:exactMatch	MIM:609985	Panic disorder 3	semapv:ManualMappingCuration	2017-10-03
DOID:594	panic disorder	skos:exactMatch	MIM:PS167870	{Panic disorder, susceptibility to}	semapv:ManualMappingCuration	2022-10-11
DOID:599	specific phobia	skos:exactMatch	MIM:608251	Phobia, specific	semapv:ManualMappingCuration	2017-10-03
DOID:6039	uveal melanoma	skos:exactMatch	MIM:155720	MELANOMA, UVEAL	semapv:ManualMappingCuration	2017-10-03
DOID:6039	uveal melanoma	skos:exactMatch	MIM:606660	{Uveal melanoma, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:6039	uveal melanoma	skos:exactMatch	MIM:606661	{Uveal melanoma, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:612	primary immunodeficiency disease	skos:exactMatch	MIM:242850	IMMUNE DEFICIENCY DISEASE	semapv:ManualMappingCuration	2018-08-21
DOID:612	primary immunodeficiency disease	skos:exactMatch	MIM:PS300755	Agammaglobulinemia, X-linked 1	semapv:ManualMappingCuration	2019-03-20
DOID:6126	anal canal carcinoma	skos:exactMatch	MIM:105580	?Anal canal carcinoma	semapv:ManualMappingCuration	2017-10-03
DOID:6225	Cronkhite-Canada syndrome	skos:exactMatch	MIM:175500	POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES	semapv:ManualMappingCuration	2018-05-23
DOID:6245	renal oncocytoma	skos:exactMatch	MIM:553000	ONCOCYTOMA	semapv:ManualMappingCuration	2018-04-16
DOID:627	severe combined immunodeficiency	skos:exactMatch	MIM:PS601457	Severe combined immunodeficiency, B cell-negative	semapv:ManualMappingCuration	2022-10-05
DOID:628	combined T cell and B cell immunodeficiency	skos:exactMatch	MIM:312863	Combined immunodeficiency, X-linked, moderate	semapv:ManualMappingCuration	2017-10-03
DOID:6364	migraine	skos:exactMatch	MIM:157300	{Migraine without aura, susceptibility to}	semapv:ManualMappingCuration	2016-05-09
DOID:6364	migraine	skos:exactMatch	MIM:300125	{Migraine, familial typical, susceptibility to, 2}	semapv:ManualMappingCuration	2014-06-23
DOID:6364	migraine	skos:exactMatch	MIM:607498	{Migraine with or without aura, susceptibility to, 3}	semapv:ManualMappingCuration	2016-05-09
DOID:6364	migraine	skos:exactMatch	MIM:607508	{Migraine with or without aura, susceptibility to, 5}	semapv:ManualMappingCuration	2016-05-09
DOID:6364	migraine	skos:exactMatch	MIM:609570	{Migraine, susceptibility to, 8}	semapv:ManualMappingCuration	2016-05-09
DOID:6364	migraine	skos:exactMatch	MIM:610208	{Migraine with or without aura, susceptibility to, 10}	semapv:ManualMappingCuration	2022-12-06
DOID:6364	migraine	skos:exactMatch	MIM:610209	{Migraine with or without aura, susceptibility to, 11}	semapv:ManualMappingCuration	
DOID:6364	migraine	skos:exactMatch	MIM:611706	{Migraine, with or without aura, susceptibility to, 12}	semapv:ManualMappingCuration	2016-05-09
DOID:6364	migraine	skos:exactMatch	MIM:613656	{Migraine, with or without aura, susceptibility to, 13}	semapv:ManualMappingCuration	2022-02-10
DOID:6364	migraine	skos:exactMatch	MIM:PS157300	{Migraine without aura, susceptibility to}	semapv:ManualMappingCuration	2020-05-26
DOID:6419	tetralogy of Fallot	skos:exactMatch	MIM:187500	Tetralogy of Fallot	semapv:ManualMappingCuration	2017-10-03
DOID:6420	pulmonary valve stenosis	skos:exactMatch	MIM:265500	PULMONIC STENOSIS	semapv:ManualMappingCuration	2018-05-23
DOID:6457	Cowden syndrome	skos:exactMatch	MIM:PS158350	Lhermitte-Duclos disease	semapv:ManualMappingCuration	2019-02-25
DOID:648	kuru	skos:exactMatch	MIM:245300	{Kuru, susceptibility to}	semapv:ManualMappingCuration	2017-10-10
DOID:6498	seborrheic keratosis	skos:exactMatch	MIM:182000	Keratosis, seborrheic, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:655	inherited metabolic disorder	skos:exactMatch	MIM:PS249270	Thiamine-responsive megaloblastic anemia syndrome	semapv:ManualMappingCuration	2019-03-27
DOID:6652	diffuse idiopathic skeletal hyperostosis	skos:exactMatch	MIM:106400	ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS	semapv:ManualMappingCuration	2018-08-21
DOID:6678	tooth and nail syndrome	skos:exactMatch	MIM:189500	Ectodermal dysplasia 3, Witkop type	semapv:ManualMappingCuration	2017-10-03
DOID:6682	spondylolisthesis	skos:exactMatch	MIM:184200	SPONDYLOLISTHESIS	semapv:ManualMappingCuration	2018-08-21
DOID:6683	X-linked Aarskog syndrome	skos:exactMatch	MIM:227330	FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	2020-12-09
DOID:6683	X-linked Aarskog syndrome	skos:exactMatch	MIM:305400	Aarskog-Scott syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:6686	Achard syndrome	skos:exactMatch	MIM:100700	ACHARD SYNDROME	semapv:ManualMappingCuration	2018-08-23
DOID:6688	autoimmune lymphoproliferative syndrome	skos:exactMatch	MIM:601859	Autoimmune lymphoproliferative syndrome, type IA	semapv:ManualMappingCuration	2017-10-03
DOID:6691	Aagenaes syndrome	skos:exactMatch	MIM:214900	Cholestasis-lymphedema syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:674	cleft palate	skos:exactMatch	MIM:119540	CLEFT PALATE, ISOLATED	semapv:ManualMappingCuration	2017-10-03
DOID:676	juvenile rheumatoid arthritis	skos:exactMatch	MIM:618795	Juvenile arthritis	semapv:ManualMappingCuration	2017-10-03
DOID:678	progressive supranuclear palsy	skos:exactMatch	MIM:PS601104	Supranuclear palsy, progressive	semapv:ManualMappingCuration	2017-10-03
DOID:684	hepatocellular carcinoma	skos:exactMatch	MIM:114550	Hepatocellular carcinoma, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:6846	familial melanoma	skos:exactMatch	MIM:155600	{Melanoma, cutaneous malignant, 1}	semapv:ManualMappingCuration	2014-06-23
DOID:6846	familial melanoma	skos:exactMatch	MIM:155601	{Melanoma, cutaneous malignant, 2}	semapv:ManualMappingCuration	2014-06-23
DOID:6846	familial melanoma	skos:exactMatch	MIM:608035	{Melanoma, cutaneous malignant, 4}	semapv:ManualMappingCuration	2014-06-23
DOID:6846	familial melanoma	skos:exactMatch	MIM:609048	{Melanoma, cutaneous malignant, 3}	semapv:ManualMappingCuration	2014-06-23
DOID:6846	familial melanoma	skos:exactMatch	MIM:612263	{Melanoma, cutaneous malignant, 7}	semapv:ManualMappingCuration	2014-06-23
DOID:6846	familial melanoma	skos:exactMatch	MIM:613099	{Melanoma, cutaneous malignant, 5}	semapv:ManualMappingCuration	2014-06-23
DOID:6846	familial melanoma	skos:exactMatch	MIM:613972	{Melanoma, cutaneous malignant, 6}	semapv:ManualMappingCuration	2015-02-17
DOID:6846	familial melanoma	skos:exactMatch	MIM:614456	{Melanoma, cutaneous malignant, susceptibility to, 8}	semapv:ManualMappingCuration	2014-10-13
DOID:6846	familial melanoma	skos:exactMatch	MIM:615134	{Melanoma, cutaneous malignant, 9}	semapv:ManualMappingCuration	2015-06-08
DOID:6846	familial melanoma	skos:exactMatch	MIM:615848	Tumor predisposition syndrome 3	semapv:ManualMappingCuration	2017-05-04
DOID:6846	familial melanoma	skos:exactMatch	MIM:PS155600	{Melanoma, cutaneous malignant, 1}	semapv:ManualMappingCuration	2019-03-27
DOID:6856	pineal region teratoma	skos:exactMatch	MIM:273120	TERATOMA, PINEAL	semapv:ManualMappingCuration	2022-11-14
DOID:699	mitochondrial myopathy	skos:exactMatch	MIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	semapv:ManualMappingCuration	2017-10-03
DOID:7004	ACTH-secreting pituitary adenoma	skos:exactMatch	MIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:705	Leber hereditary optic neuropathy	skos:exactMatch	MIM:535000	LEBER OPTIC ATROPHY	semapv:ManualMappingCuration	2017-10-03
DOID:7147	ankylosing spondylitis	skos:exactMatch	MIM:PS106300	{Spondyloarthropathy, susceptibility to, 1}	semapv:ManualMappingCuration	2020-02-19
DOID:7148	rheumatoid arthritis	skos:exactMatch	MIM:180300	{Rheumatoid arthritis, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:718	autoimmune hemolytic anemia	skos:exactMatch	MIM:205700	ANEMIA, AUTOIMMUNE HEMOLYTIC	semapv:ManualMappingCuration	2017-10-03
DOID:7188	autoimmune thyroiditis	skos:exactMatch	MIM:608173	{Autoimmune thyroid disease, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:7188	autoimmune thyroiditis	skos:exactMatch	MIM:608174	{Autoimmune thyroid disease, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:7188	autoimmune thyroiditis	skos:exactMatch	MIM:608175	{Autoimmune thyroid disease, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:7188	autoimmune thyroiditis	skos:exactMatch	MIM:608176	{Autoimmune thyroid disease, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:7400	Nijmegen breakage syndrome	skos:exactMatch	MIM:251260	Nijmegen breakage syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:743	dermatographia	skos:exactMatch	MIM:125635	DERMOGRAPHISM, FAMILIAL	semapv:ManualMappingCuration	2018-08-22
DOID:768	retinoblastoma	skos:exactMatch	MIM:180200	Retinoblastoma, trilateral	semapv:ManualMappingCuration	2017-10-03
DOID:769	neuroblastoma	skos:exactMatch	MIM:256700	{Neuroblastoma, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:769	neuroblastoma	skos:exactMatch	MIM:613015	{Neuroblastoma, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:769	neuroblastoma	skos:exactMatch	MIM:613016	{Neuroblastoma, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:769	neuroblastoma	skos:exactMatch	MIM:613017	{Neuroblastoma, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:769	neuroblastoma	skos:exactMatch	MIM:616792	{Neuroblastoma, susceptibility to, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:7693	abdominal aortic aneurysm	skos:exactMatch	MIM:PS100070	Aortic aneurysm, familial abdominal 1	semapv:ManualMappingCuration	2019-03-15
DOID:7736	retinal telangiectasia	skos:exactMatch	MIM:300216	COATS DISEASE	semapv:ManualMappingCuration	2017-10-03
DOID:799	varicose veins	skos:exactMatch	MIM:192200	VARICOSE VEINS	semapv:ManualMappingCuration	2017-10-03
DOID:8158	complement component 5 deficiency	skos:exactMatch	MIM:609536	C5 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:8161	oncocytic carcinoma of the thyroid	skos:exactMatch	MIM:607464	{Thyroid carcinoma, Hurthle cell}	semapv:ManualMappingCuration	2017-10-03
DOID:83	cataract	skos:exactMatch	MIM:PS116200	Cataract 1, multiple types	semapv:ManualMappingCuration	2019-03-28
DOID:8337	appendicitis	skos:exactMatch	MIM:107700	APPENDICITIS, PRONENESS TO	semapv:ManualMappingCuration	2022-11-29
DOID:8354	complement component 3 deficiency	skos:exactMatch	MIM:613779	C3 deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:8398	osteoarthritis	skos:exactMatch	MIM:140600	{Osteoarthritis susceptibility 2}	semapv:ManualMappingCuration	2017-10-03
DOID:8398	osteoarthritis	skos:exactMatch	MIM:165720	{Osteoarthritis susceptibility 1}	semapv:ManualMappingCuration	2017-10-03
DOID:8398	osteoarthritis	skos:exactMatch	MIM:607850	{Osteoarthritis susceptibility 3}	semapv:ManualMappingCuration	2017-10-03
DOID:8398	osteoarthritis	skos:exactMatch	MIM:610839	{Osteoarthritis susceptibility 4}	semapv:ManualMappingCuration	2017-10-03
DOID:8398	osteoarthritis	skos:exactMatch	MIM:612400	{Osteoarthritis-5}	semapv:ManualMappingCuration	2017-10-03
DOID:8398	osteoarthritis	skos:exactMatch	MIM:612401	{Osteoarthritis susceptibility 6}	semapv:ManualMappingCuration	2017-10-03
DOID:8445	intestinal volvulus	skos:exactMatch	MIM:193250	VOLVULUS OF MIDGUT	semapv:ManualMappingCuration	2017-10-03
DOID:8446	intussusception	skos:exactMatch	MIM:147710	INTUSSUSCEPTION	semapv:ManualMappingCuration	2018-08-21
DOID:8454	riboflavin deficiency	skos:exactMatch	MIM:615026	Riboflavin deficiency	semapv:ManualMappingCuration	2017-10-10
DOID:8461	Aicardi syndrome	skos:exactMatch	MIM:304050	Aicardi syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:8499	night blindness	skos:exactMatch	MIM:310500	Night blindness, congenital stationary (complete), 1A, X-linked	semapv:ManualMappingCuration	2024-02-08
DOID:8534	gastroesophageal reflux disease	skos:exactMatch	MIM:109350	Gastroesophageal reflux	semapv:ManualMappingCuration	2017-10-03
DOID:8538	reticulosarcoma	skos:exactMatch	MIM:267730	RETICULUM CELL SARCOMA	semapv:ManualMappingCuration	2018-08-21
DOID:8545	malignant hyperthermia	skos:exactMatch	MIM:145600	{Malignant hyperthermia susceptibility 1}	semapv:ManualMappingCuration	2017-10-03
DOID:8545	malignant hyperthermia	skos:exactMatch	MIM:154275	{Malignant hyperthermia susceptibility 2}	semapv:ManualMappingCuration	2017-10-03
DOID:8545	malignant hyperthermia	skos:exactMatch	MIM:154276	{Malignant hyperthermia susceptibility 3}	semapv:ManualMappingCuration	2017-10-03
DOID:8545	malignant hyperthermia	skos:exactMatch	MIM:600467	{Malignant hyperthermia susceptibility 4}	semapv:ManualMappingCuration	2017-10-03
DOID:8545	malignant hyperthermia	skos:exactMatch	MIM:601887	{Malignant hyperthermia susceptibility 5}	semapv:ManualMappingCuration	2017-10-03
DOID:8545	malignant hyperthermia	skos:exactMatch	MIM:601888	{Malignant hyperthermia susceptibility 6}	semapv:ManualMappingCuration	2017-10-03
DOID:8545	malignant hyperthermia	skos:exactMatch	MIM:PS145600	{Malignant hyperthermia susceptibility 1}	semapv:ManualMappingCuration	2018-10-11
DOID:8552	chronic myeloid leukemia	skos:exactMatch	MIM:608232	Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:856	biotinidase deficiency	skos:exactMatch	MIM:253260	Biotinidase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:8567	Hodgkin's lymphoma	skos:exactMatch	MIM:236000	{Hodgkin lymphoma, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:8584	Burkitt lymphoma	skos:exactMatch	MIM:113970	Burkitt lymphoma, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:859	holocarboxylase synthetase deficiency	skos:exactMatch	MIM:253270	Holocarboxylase synthetase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:8616	Peyronie's disease	skos:exactMatch	MIM:171000	PEYRONIE DISEASE	semapv:ManualMappingCuration	2018-08-22
DOID:8632	Kaposi's sarcoma	skos:exactMatch	MIM:148000	{Kaposi sarcoma, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:8689	anorexia nervosa	skos:exactMatch	MIM:606788	{Anorexia nervosa, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:8691	mycosis fungoides	skos:exactMatch	MIM:254400	MYCOSIS FUNGOIDES	semapv:ManualMappingCuration	2018-08-21
DOID:8757	gastric mucosal hypertrophy	skos:exactMatch	MIM:137280	GASTRITIS, FAMILIAL GIANT HYPERTROPHIC	semapv:ManualMappingCuration	2018-08-22
DOID:8778	Crohn's disease	skos:exactMatch	MIM:266600	{Crohn disease-associated growth failure}	semapv:ManualMappingCuration	2018-05-23
DOID:8864	acute monocytic leukemia	skos:exactMatch	MIM:151380	LEUKEMIA, ACUTE MONOCYTIC	semapv:ManualMappingCuration	2018-08-21
DOID:8893	psoriasis	skos:exactMatch	MIM:PS177900	{Psoriasis susceptibility 1}	semapv:ManualMappingCuration	2019-03-20
DOID:891	progressive myoclonus epilepsy	skos:exactMatch	MIM:310370	MYOCLONIC EPILEPSY, PROGRESSIVE	semapv:ManualMappingCuration	2018-08-22
DOID:891	progressive myoclonus epilepsy	skos:exactMatch	MIM:PS254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	semapv:ManualMappingCuration	2019-03-27
DOID:8924	autoimmune thrombocytopenic purpura	skos:exactMatch	MIM:188030	IMMUNE THROMBOCYTOPENIA	semapv:ManualMappingCuration	2017-10-03
DOID:893	Wilson disease	skos:exactMatch	MIM:277900	Wilson disease	semapv:ManualMappingCuration	2017-10-03
DOID:8955	sideroblastic anemia	skos:exactMatch	MIM:PS300751	Anemia, sideroblastic, 1	semapv:ManualMappingCuration	2018-10-11
DOID:8970	subacute sclerosing panencephalitis	skos:exactMatch	MIM:260470	SUBACUTE SCLEROSING PANENCEPHALITIS	semapv:ManualMappingCuration	2018-08-23
DOID:8986	narcolepsy	skos:exactMatch	MIM:605841	Narcolepsy 2	semapv:ManualMappingCuration	2017-10-03
DOID:8986	narcolepsy	skos:exactMatch	MIM:609039	Narcolepsy 3	semapv:ManualMappingCuration	2017-10-03
DOID:8986	narcolepsy	skos:exactMatch	MIM:612417	{Narcolepsy 4}	semapv:ManualMappingCuration	2017-10-03
DOID:8986	narcolepsy	skos:exactMatch	MIM:612851	{Narcolepsy 5}	semapv:ManualMappingCuration	2017-10-03
DOID:8986	narcolepsy	skos:exactMatch	MIM:614223	Narcolepsy 6	semapv:ManualMappingCuration	2017-10-03
DOID:8986	narcolepsy	skos:exactMatch	MIM:PS161400	?Narcolepsy 1	semapv:ManualMappingCuration	2019-03-27
DOID:899	choledochal cyst	skos:exactMatch	MIM:603003	BILE DUCT CYSTS	semapv:ManualMappingCuration	2022-07-27
DOID:8997	polycythemia vera	skos:exactMatch	MIM:263300	Polycythemia vera, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:9000017	Devriendt syndrome	skos:exactMatch	MIM:610136	DEVRIENDT SYNDROME	semapv:ManualMappingCuration	2017-12-05
DOID:9000019	Attention Deficit-Hyperactivity Disorder 8	skos:exactMatch	MIM:619957	?Attention deficit-hyperactivity disorder 8	semapv:ManualMappingCuration	2022-07-18
DOID:9000022	Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals	skos:exactMatch	MIM:609655	TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS	semapv:ManualMappingCuration	
DOID:9000023	Camurati Engelmann Disease, Type 2	skos:exactMatch	MIM:606631	CAMURATI-ENGELMANN DISEASE, TYPE 2	semapv:ManualMappingCuration	2018-08-22
DOID:9000028	Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia	skos:exactMatch	MIM:251240	MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA	semapv:ManualMappingCuration	2022-12-06
DOID:9000029	Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation	skos:exactMatch	MIM:204850	AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA WITH IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	2022-03-29
DOID:9000030	Radial Ray Hypoplasia Choanal Atresia	skos:exactMatch	MIM:179270	RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA	semapv:ManualMappingCuration	2022-11-04
DOID:9000033	Sakoda Complex	skos:exactMatch	MIM:610871	SAKODA COMPLEX	semapv:ManualMappingCuration	
DOID:9000037	Lymphatic Malformation 10	skos:exactMatch	MIM:619369	Lymphatic malformation 10	semapv:ManualMappingCuration	2021-06-04
DOID:9000038	Urban Schosser Spohn Syndrome	skos:exactMatch	MIM:158310	Mucoepithelial dysplasia, hereditary	semapv:ManualMappingCuration	
DOID:9000043	Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas	skos:exactMatch	MIM:600419	ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS	semapv:ManualMappingCuration	2022-11-14
DOID:9000044	Al Gazali Hirschsprung Syndrome	skos:exactMatch	MIM:235760	HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES	semapv:ManualMappingCuration	
DOID:9000045	De Hauwere syndrome	skos:exactMatch	MIM:109120	AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES	semapv:ManualMappingCuration	
DOID:9000047	Dystonia with Ringbinden	skos:exactMatch	MIM:224550	DYSTONIA WITH RINGBINDEN	semapv:ManualMappingCuration	
DOID:9000049	Deoxyribose-5-Phosphate Aldolase Deficiency	skos:exactMatch	MIM:125460	DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY	semapv:ManualMappingCuration	
DOID:9000050	Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency	skos:exactMatch	MIM:602199	MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY	semapv:ManualMappingCuration	
DOID:9000051	PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY	skos:exactMatch	MIM:619859	?Phosphoribosylaminoimidazole carboxylase deficiency	semapv:ManualMappingCuration	2022-07-07
DOID:9000056	IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION	skos:exactMatch	MIM:260570	?Immunodeficiency 108 with autoinflammation	semapv:ManualMappingCuration	
DOID:9000057	Pseudohypoaldosteronism Type IB2, Autosomal Recessive	skos:exactMatch	MIM:620125	Pseudohypoaldosteronism, type IB2, autosomal recessive	semapv:ManualMappingCuration	2022-12-05
DOID:9000058	Keloid	skos:exactMatch	MIM:148100	KELOID FORMATION	semapv:ManualMappingCuration	2018-01-17
DOID:9000064	Cardiac Arrhythmias	skos:exactMatch	MIM:115000	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9000065	Myopia 25, Autosomal Dominant	skos:exactMatch	MIM:617238	Myopia 25, autosomal dominant	semapv:ManualMappingCuration	2017-03-29
DOID:9000068	X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy	skos:exactMatch	MIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy	semapv:ManualMappingCuration	2017-10-03
DOID:9000070	Progressive Renal Failure with Hypertension	skos:exactMatch	MIM:161900	Nephropathy-hypertension	semapv:ManualMappingCuration	2017-10-03
DOID:9000074	Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly	skos:exactMatch	MIM:602556	FACIAL DYSMORPHISM, CLEFT PALATE, HEARING LOSS, AND CAMPTODACTYLY	semapv:ManualMappingCuration	
DOID:9000077	GOMBO Syndrome	skos:exactMatch	MIM:233270	GOMBO SYNDROME	semapv:ManualMappingCuration	
DOID:9000084	Childhood-Onset Neurodegeneration with Cerebellar Atrophy	skos:exactMatch	MIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	semapv:ManualMappingCuration	2019-04-30
DOID:9000085	Book Syndrome	skos:exactMatch	MIM:112300	BOOK SYNDROME	semapv:ManualMappingCuration	2022-11-29
DOID:9000086	Rhiny	skos:exactMatch	MIM:180360	RHINY	semapv:ManualMappingCuration	2022-12-05
DOID:9000092	Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male	skos:exactMatch	MIM:300233	RADIOULNAR SYNOSTOSIS, RADIAL RAY ABNORMALITIES, AND SEVERE MALFORMATIONS IN THE MALE	semapv:ManualMappingCuration	2021-02-16
DOID:9000094	Pterygium Of Conjunctiva And Cornea	skos:exactMatch	MIM:178000	PTERYGIUM OF CONJUNCTIVA AND CORNEA	semapv:ManualMappingCuration	2017-10-03
DOID:9000096	Lung Agenesis	skos:exactMatch	MIM:265430	PULMONARY HYPOPLASIA, PRIMARY	semapv:ManualMappingCuration	
DOID:9000097	Skin/Hair/Eye Pigmentation, Variation In, 10	skos:exactMatch	MIM:612267	[Skin/hair/eye pigmentation 10, blond/brown hair]	semapv:ManualMappingCuration	
DOID:9000098	Mucus Inspissation of Respiratory Tract	skos:exactMatch	MIM:253240	MUCUS INSPISSATION OF RESPIRATORY TRACT	semapv:ManualMappingCuration	
DOID:9000100	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA	skos:exactMatch	MIM:619651	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	semapv:ManualMappingCuration	2022-02-10
DOID:9000103	Aprosencephaly and Cerebellar Dysgenesis	skos:exactMatch	MIM:601374	APROSENCEPHALY AND CEREBELLAR DYSGENESIS	semapv:ManualMappingCuration	
DOID:9000105	Glaucoma with Elevated Episcleral Venous Pressure	skos:exactMatch	MIM:137700	GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE	semapv:ManualMappingCuration	
DOID:9000107	Hall Riggs Mental Retardation Syndrome	skos:exactMatch	MIM:234250	HALL-RIGGS SYNDROME	semapv:ManualMappingCuration	2022-11-29
DOID:9000108	Dermochondrocorneal Dystrophy of François	skos:exactMatch	MIM:221800	DERMOCHONDROCORNEAL DYSTROPHY	semapv:ManualMappingCuration	
DOID:9000110	Congenital Chylous Ascites	skos:exactMatch	MIM:208300	ASCITES, CHYLOUS	semapv:ManualMappingCuration	2022-12-06
DOID:9000112	Alopecia Contractures Dwarfism Mental Retardation	skos:exactMatch	MIM:203550	INTELLECTUAL DEVELOPMENTAL SYNDROME WITH ALOPECIA, CONTRACTURES, AND DWARFISM	semapv:ManualMappingCuration	
DOID:9000116	Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss	skos:exactMatch	MIM:609466	CLEFT PALATE, MIDFACIAL HYPOPLASIA, TRIANGULAR FACIES, AND SENSORINEURAL HEARING LOSS	semapv:ManualMappingCuration	
DOID:9000121	Malocclusion	skos:exactMatch	MIM:154300	MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH	semapv:ManualMappingCuration	2022-11-21
DOID:9000122	Pulmonary Surfactant Metabolism Dysfunction 3	skos:exactMatch	MIM:610921	Surfactant metabolism dysfunction, pulmonary, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9000124	Perrault Syndrome 5	skos:exactMatch	MIM:616138	Perrault syndrome 5	semapv:ManualMappingCuration	2015-03-10
DOID:9000127	Knobloch Syndrome Type II	skos:exactMatch	MIM:618458	?Knobloch syndrome 2	semapv:ManualMappingCuration	2022-07-26
DOID:9000136	Osteoma of Middle Ear	skos:exactMatch	MIM:259650	OSTEOMA OF MIDDLE EAR	semapv:ManualMappingCuration	2022-11-21
DOID:9000137	Corneal Dystrophy, Fuchs' Endothelial, 1	skos:exactMatch	MIM:136800	Corneal dystrophy, Fuchs endothelial, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9000141	Autosomal Dominant Intellectual Developmental Disorder 58	skos:exactMatch	MIM:618106	Intellectual developmental disorder, autosomal dominant 58	semapv:ManualMappingCuration	2018-10-11
DOID:9000145	IGF1R-RELATED DISORDER	skos:exactMatch	MIM:270450	Insulin-like growth factor I, resistance to	semapv:ManualMappingCuration	2017-10-03
DOID:9000148	Familial Hypersecretion of Adrenal Androgens	skos:exactMatch	MIM:145295	HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL	semapv:ManualMappingCuration	
DOID:9000149	Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive	skos:exactMatch	MIM:620009	Keratoderma-ichthyosis-deafness syndrome, autosomal recessive	semapv:ManualMappingCuration	2022-08-22
DOID:9000151	Parietal Foramina 3	skos:exactMatch	MIM:609566	Parietal foramina 3	semapv:ManualMappingCuration	2017-10-03
DOID:9000152	Braddock-Carey Syndrome 2	skos:exactMatch	MIM:619981	?Braddock-Carey syndrome 2	semapv:ManualMappingCuration	2022-08-01
DOID:9000154	Major Affective Disorder 6	skos:exactMatch	MIM:611536	{Major affective disorder 6}	semapv:ManualMappingCuration	2017-10-03
DOID:9000157	Striae Distensae, Familial	skos:exactMatch	MIM:185200	STRIAE DISTENSAE, FAMILIAL	semapv:ManualMappingCuration	2022-10-19
DOID:9000159	Thumb Deformity and Alopecia	skos:exactMatch	MIM:188150	THUMB DEFORMITY AND ALOPECIA	semapv:ManualMappingCuration	
DOID:9000161	Autosomal Recessive Nonsyndromic Deafness 120	skos:exactMatch	MIM:620238	Deafness, autosomal recessive 120	semapv:ManualMappingCuration	2023-02-06
DOID:9000163	Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment	skos:exactMatch	MIM:242530	ICHTHYOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, DWARFISM, AND RENAL IMPAIRMENT	semapv:ManualMappingCuration	
DOID:9000164	Axial Osteosclerosis	skos:exactMatch	MIM:166450	OSTEOMESOPYKNOSIS	semapv:ManualMappingCuration	
DOID:9000170	Ragweed Sensitivity	skos:exactMatch	MIM:179450	?Ragweed sensitivity	semapv:ManualMappingCuration	2017-10-03
DOID:9000174	Becker Nevus Syndrome	skos:exactMatch	MIM:604919	Becker nevus, syndromic or isolated, somatic mosaic	semapv:ManualMappingCuration	2022-11-15
DOID:9000175	Thoracomelic Dysplasia	skos:exactMatch	MIM:273740	THORACOMELIC DYSPLASIA	semapv:ManualMappingCuration	2022-11-14
DOID:9000177	Chudley-Mccullough syndrome	skos:exactMatch	MIM:604213	Chudley-McCullough syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9000179	Infantile Hypertrophic Pyloric Stenosis 5	skos:exactMatch	MIM:612525	Pyloric stenosis, infantile hypertrophic, 5	semapv:ManualMappingCuration	2017-10-03
DOID:9000183	Familial Eosinophilia	skos:exactMatch	MIM:131400	Eosinophilia, familial	semapv:ManualMappingCuration	2017-10-03
DOID:9000184	Ventricular Fibrillation	skos:exactMatch	MIM:613601	EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION	semapv:ManualMappingCuration	
DOID:9000186	Ossified Ear Cartilages	skos:exactMatch	MIM:165670	OSSIFIED EAR CARTILAGES	semapv:ManualMappingCuration	
DOID:9000187	Spastic Ataxia 9, Autosomal Recessive	skos:exactMatch	MIM:618438	?Spastic ataxia 9, autosomal recessive	semapv:ManualMappingCuration	2019-06-25
DOID:9000188	HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2	skos:exactMatch	MIM:620085	?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2	semapv:ManualMappingCuration	2022-11-14
DOID:9000190	Hypophosphatemic Bone Disease	skos:exactMatch	MIM:146350	HYPOPHOSPHATEMIC BONE DISEASE	semapv:ManualMappingCuration	2017-10-03
DOID:9000193	Short Stature and Facioauriculothoracic Malformations	skos:exactMatch	MIM:609654	SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS	semapv:ManualMappingCuration	
DOID:9000195	Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism	skos:exactMatch	MIM:601552	Traboulsi syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9000196	Fibular Aplasia Ectrodactyly	skos:exactMatch	MIM:113310	BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA	semapv:ManualMappingCuration	
DOID:9000198	Erythrokeratodermia Variabilis et Progressiva 7	skos:exactMatch	MIM:619209	Erythrokeratodermia variabilis et progressiva 7	semapv:ManualMappingCuration	2021-03-01
DOID:9000200	Leber Hereditary Optic Neuropathy, Autosomal Recessive  2	skos:exactMatch	MIM:620569	?Leber-like hereditary optic neuropathy, autosomal recessive 2	semapv:ManualMappingCuration	2023-11-10
DOID:9000201	Yim Ebbin Syndrome	skos:exactMatch	MIM:601357	BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY	semapv:ManualMappingCuration	
DOID:9000204	Platelet-Activating Factor Acetylhydrolase Deficiency	skos:exactMatch	MIM:614278	Platelet-activating factor acetylhydrolase deficiency	semapv:ManualMappingCuration	2017-10-10
DOID:9000208	Auriculocondylar Syndrome	skos:exactMatch	MIM:PS602483	Auriculocondylar syndrome 1	semapv:ManualMappingCuration	2019-03-21
DOID:9000211	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE	skos:exactMatch	MIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	semapv:ManualMappingCuration	2017-03-29
DOID:9000212	Hereditary Pyropoikilocytosis	skos:exactMatch	MIM:266140	Pyropoikilocytosis	semapv:ManualMappingCuration	2017-10-03
DOID:9000213	Chromosome 15q14 Deletion Syndrome	skos:exactMatch	MIM:616898	Chromosome 15q14 deletion syndrome	semapv:ManualMappingCuration	2020-07-09
DOID:9000214	Myopia 7	skos:exactMatch	MIM:609256	Myopia 7	semapv:ManualMappingCuration	2017-10-03
DOID:9000218	Craniosynostosis with Ectopia Lentis	skos:exactMatch	MIM:603595	CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS	semapv:ManualMappingCuration	
DOID:9000219	Carney Complex Variant	skos:exactMatch	MIM:608837	Carney complex variant	semapv:ManualMappingCuration	2017-10-03
DOID:9000220	Coxsackievirus Infections	skos:exactMatch	MIM:120050	COXSACKIEVIRUS B3 SUSCEPTIBILITY	semapv:ManualMappingCuration	2014-06-23
DOID:9000221	Epiblepharon of Upper Lid	skos:exactMatch	MIM:131450	EPIBLEPHARON OF LOWER LID	semapv:ManualMappingCuration	2020-06-02
DOID:9000221	Epiblepharon of Upper Lid	skos:exactMatch	MIM:131460	EPIBLEPHARON OF UPPER LID	semapv:ManualMappingCuration	
DOID:9000222	Cerebellar Degeneration-Related Autoantigen 3	skos:exactMatch	MIM:602197	CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3	semapv:ManualMappingCuration	2014-06-23
DOID:9000223	Beta-Ureidopropionase Deficiency	skos:exactMatch	MIM:613161	Beta-ureidopropionase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9000225	Hypotrichosis and Recurrent Skin Vesicles	skos:exactMatch	MIM:613102	Hypotrichosis and recurrent skin vesicles	semapv:ManualMappingCuration	2017-10-03
DOID:9000230	Hyper-IgE Recurrent Infection Syndrome 5	skos:exactMatch	MIM:618944	Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections	semapv:ManualMappingCuration	2020-07-22
DOID:9000232	Conjugated Hyperbilirubinemia Type III	skos:exactMatch	MIM:237550	HYPERBILIRUBINEMIA, CONJUGATED, TYPE III	semapv:ManualMappingCuration	
DOID:9000233	PARKINSONISM WITH POLYNEUROPATHY	skos:exactMatch	MIM:619279	Parkinsonism with polyneuropathy	semapv:ManualMappingCuration	2021-05-14
DOID:9000234	Familial Atrial Fibrillation 15	skos:exactMatch	MIM:615770	?Atrial fibrillation 15	semapv:ManualMappingCuration	2014-09-09
DOID:9000235	Malignant Hemangiopericytoma	skos:exactMatch	MIM:234820	HEMANGIOPERICYTOMA, MALIGNANT	semapv:ManualMappingCuration	2022-12-06
DOID:9000236	Persistent Hyperplastic Primary Vitreous, Autosomal Dominant	skos:exactMatch	MIM:611308	PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2018-08-21
DOID:9000239	Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements	skos:exactMatch	MIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	semapv:ManualMappingCuration	2019-06-11
DOID:9000240	T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations	skos:exactMatch	MIM:614868	T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations	semapv:ManualMappingCuration	2014-09-02
DOID:9000244	Ectodermal Dysplasia-Syndactyly Syndrome	skos:exactMatch	MIM:PS613573	Ectodermal dysplasia-syndactyly syndrome 1	semapv:ManualMappingCuration	2019-03-26
DOID:9000248	Nephropathy, Deafness, and Hyperparathyroidism	skos:exactMatch	MIM:256120	NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM	semapv:ManualMappingCuration	2022-11-21
DOID:9000249	Oculorenocerebellar Syndrome	skos:exactMatch	MIM:257970	OCULORENOCEREBELLAR SYNDROME	semapv:ManualMappingCuration	2022-11-14
DOID:9000250	Cardioacrofacial Dysplasia	skos:exactMatch	MIM:PS619142	Cardioacrofacial dysplasia 1	semapv:ManualMappingCuration	2021-01-04
DOID:9000258	Aicardi-Goutieres Syndrome 4	skos:exactMatch	MIM:610333	Aicardi-Goutieres syndrome 4	semapv:ManualMappingCuration	2017-10-03
DOID:9000260	OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE	skos:exactMatch	MIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	semapv:ManualMappingCuration	2016-04-19
DOID:9000261	Pseudodiastrophic Dysplasia	skos:exactMatch	MIM:264180	PSEUDODIASTROPHIC DYSPLASIA	semapv:ManualMappingCuration	2022-11-29
DOID:9000262	Distal Arthrogryposis, with Mental Retardation and Characteristic Facies	skos:exactMatch	MIM:208081	ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CHARACTERISTIC FACIES	semapv:ManualMappingCuration	
DOID:9000264	Hypercalcemia, Infantile, 2	skos:exactMatch	MIM:616963	Hypercalcemia, infantile, 2	semapv:ManualMappingCuration	2016-06-13
DOID:9000265	Specific Granule Deficiency	skos:exactMatch	MIM:PS245480	Specific granule deficiency	semapv:ManualMappingCuration	2019-03-26
DOID:9000266	Lutz Richner Landolt Syndrome	skos:exactMatch	MIM:210550	BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY	semapv:ManualMappingCuration	
DOID:9000267	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA	skos:exactMatch	MIM:617182	Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	semapv:ManualMappingCuration	2017-10-10
DOID:9000270	Congenital Central Hypoventilation Syndrome 1	skos:exactMatch	MIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	semapv:ManualMappingCuration	2017-10-03
DOID:9000271	Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation	skos:exactMatch	MIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	semapv:ManualMappingCuration	2016-08-10
DOID:9000279	Congenital Progeroid Syndrome, Petty Type	skos:exactMatch	MIM:612289	Fontaine progeroid syndrome	semapv:ManualMappingCuration	2018-08-31
DOID:9000281	Parkinson's Disease 16	skos:exactMatch	MIM:613164	{Parkinson disease 16}	semapv:ManualMappingCuration	2017-10-03
DOID:9000282	IMAGEI Syndrome	skos:exactMatch	MIM:618336	IMAGE-I syndrome	semapv:ManualMappingCuration	2019-02-22
DOID:9000284	X-linked Microhydranencephaly	skos:exactMatch	MIM:306990	MICROHYDRANENCEPHALY, X-LINKED	semapv:ManualMappingCuration	2022-09-06
DOID:9000286	Myopia 13	skos:exactMatch	MIM:300613	Myopia 13	semapv:ManualMappingCuration	2017-10-03
DOID:9000287	Progressive Muscular Dystrophy, Pectorodorsal	skos:exactMatch	MIM:310095	MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL	semapv:ManualMappingCuration	2018-08-22
DOID:9000289	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES	skos:exactMatch	MIM:619228	Developmental delay with dysmorphic facies and dental anomalies	semapv:ManualMappingCuration	2021-04-08
DOID:9000290	Stargardt Disease 3	skos:exactMatch	MIM:600110	Stargardt disease 3	semapv:ManualMappingCuration	2017-10-03
DOID:9000295	Ring Chromosome 14 Syndrome	skos:exactMatch	MIM:616606	Ring chromosome 14 syndrome	semapv:ManualMappingCuration	
DOID:9000296	Immunodeficiency 96	skos:exactMatch	MIM:619774	Immunodeficiency 96	semapv:ManualMappingCuration	2022-03-08
DOID:9000301	Myotubular Myopathy with Abnormal Genital Development	skos:exactMatch	MIM:300219	MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9000303	Familial Restrictive Cardiomyopathy 6	skos:exactMatch	MIM:619433	?Cardiomyopathy, familial restrictive, 6	semapv:ManualMappingCuration	2021-07-16
DOID:9000305	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS	skos:exactMatch	MIM:619147	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	semapv:ManualMappingCuration	2021-04-09
DOID:9000309	Growth Hormone Insensitivity with Immune Dysregulation	skos:exactMatch	MIM:PS245590	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	semapv:ManualMappingCuration	2020-10-09
DOID:9000311	Lichtenstein Syndrome	skos:exactMatch	MIM:246550	LICHTENSTEIN SYNDROME	semapv:ManualMappingCuration	
DOID:9000316	UV-Sensitive Syndrome 2	skos:exactMatch	MIM:614621	UV-sensitive syndrome 2	semapv:ManualMappingCuration	2014-09-02
DOID:9000319	Lentigo	skos:exactMatch	MIM:150900	LENTIGINES	semapv:ManualMappingCuration	
DOID:9000321	Autosomal Recessive Nonsyndromic Deafness 117	skos:exactMatch	MIM:619174	Deafness, autosomal recessive 117	semapv:ManualMappingCuration	2021-02-03
DOID:9000324	Autoimmune Limb-Girdle Myasthenia	skos:exactMatch	MIM:159400	MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE	semapv:ManualMappingCuration	
DOID:9000327	Acute Myelocytic Leukemia with Polyposis Coli and Colon Cancer	skos:exactMatch	MIM:246470	LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER	semapv:ManualMappingCuration	
DOID:9000330	Kahn-Kahn-Katsanis Syndrome	skos:exactMatch	MIM:618460	Khan-Khan-Katsanis syndrome	semapv:ManualMappingCuration	2019-06-25
DOID:9000333	Progressive Vestibulocochlear Dysfunction	skos:exactMatch	MIM:193005	VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE	semapv:ManualMappingCuration	
DOID:9000334	Metaphyseal Dysplasia, Braun-Tinschert Type	skos:exactMatch	MIM:605946	METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE	semapv:ManualMappingCuration	2021-05-28
DOID:9000335	Keratoconus 8	skos:exactMatch	MIM:614628	Keratoconus 8	semapv:ManualMappingCuration	2017-10-03
DOID:9000339	Immunodeficiency 102	skos:exactMatch	MIM:301082	Immunodeficiency 102	semapv:ManualMappingCuration	2022-06-02
DOID:9000341	Concentric Annular Macular Dystrophy	skos:exactMatch	MIM:153870	Retinitis pigmentosa 91	semapv:ManualMappingCuration	2017-10-03
DOID:9000346	Congenital Disorder of Glycosylation Type IIt	skos:exactMatch	MIM:618885	Congenital disorder of glycosylation, type IIt	semapv:ManualMappingCuration	2020-05-21
DOID:9000347	Multisystem Autoimmune Disease, Infantile-Onset, 1	skos:exactMatch	MIM:615952	Autoimmune disease, multisystem, infantile-onset, 1	semapv:ManualMappingCuration	2016-07-14
DOID:9000349	Spastic Paraplegia with Kallmann Syndrome	skos:exactMatch	MIM:308750	KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA	semapv:ManualMappingCuration	
DOID:9000351	Diarrhea 9	skos:exactMatch	MIM:618168	Diarrhea 9	semapv:ManualMappingCuration	2018-12-06
DOID:9000355	Neurodevelopmental Disorder with Microcephaly and Gray Sclerae	skos:exactMatch	MIM:617051	Neurodevelopmental disorder with microcephaly and gray sclerae	semapv:ManualMappingCuration	2016-09-09
DOID:9000356	Transaldolase Deficiency	skos:exactMatch	MIM:606003	Transaldolase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9000359	NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY	skos:exactMatch	MIM:619847	Neurodegeneration, childhood-onset, with progressive microcephaly	semapv:ManualMappingCuration	2022-06-28
DOID:9000361	Nonspherocytic Hemolytic Anemia, associated with Abnormality of Red Cell Membrane	skos:exactMatch	MIM:206300	ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF RED CELL MEMBRANE	semapv:ManualMappingCuration	2018-08-21
DOID:9000365	Immunodeficiency 92	skos:exactMatch	MIM:619652	Immunodeficiency 92	semapv:ManualMappingCuration	2021-12-14
DOID:9000368	Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets	skos:exactMatch	MIM:618372	Gastrointestinal ulceration, recurrent, with dysfunctional platelets	semapv:ManualMappingCuration	2016-06-13
DOID:9000369	Talonavicular Coalition	skos:exactMatch	MIM:186750	TALONAVICULAR COALITION	semapv:ManualMappingCuration	
DOID:9000372	Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly	skos:exactMatch	MIM:618825	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	semapv:ManualMappingCuration	2020-04-01
DOID:9000376	Cone-Rod Dystrophy and Hearing Loss 1	skos:exactMatch	MIM:617236	Cone-rod dystrophy and hearing loss	semapv:ManualMappingCuration	2017-02-28
DOID:9000377	Liberfarb Syndrome	skos:exactMatch	MIM:618889	Liberfarb syndrome	semapv:ManualMappingCuration	2020-07-02
DOID:9000378	Congenital Anosmia	skos:exactMatch	MIM:107200	Anosmia, isolated congenital	semapv:ManualMappingCuration	2017-10-03
DOID:9000378	Congenital Anosmia	skos:exactMatch	MIM:301700	ANOSMIA, ISOLATED CONGENITAL, X-LINKED	semapv:ManualMappingCuration	2022-12-06
DOID:9000379	Isolated Syringomyelia	skos:exactMatch	MIM:186700	SYRINGOMYELIA, NONCOMMUNICATING ISOLATED	semapv:ManualMappingCuration	2018-05-23
DOID:9000382	Myopia 27	skos:exactMatch	MIM:618827	Myopia 27	semapv:ManualMappingCuration	2020-03-30
DOID:9000383	Galloway-Mowat Syndrome 6	skos:exactMatch	MIM:618347	Galloway-Mowat syndrome 6	semapv:ManualMappingCuration	2019-03-12
DOID:9000385	Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation	skos:exactMatch	MIM:602564	EMPHYSEMA, CONGENITAL, WITH DEAFNESS, PENOSCROTAL WEB, AND INTELLECTUAL DEVELOPMENTAL DISORDER	semapv:ManualMappingCuration	
DOID:9000387	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS	skos:exactMatch	MIM:619685	Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis	semapv:ManualMappingCuration	2022-03-22
DOID:9000389	Blepharophimosis with Facial and Genital Anomalies and Mental Retardation	skos:exactMatch	MIM:604314	BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9000390	Ophthalmoplegia Totalis with Ptosis and Miosis	skos:exactMatch	MIM:258400	OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS	semapv:ManualMappingCuration	
DOID:9000391	Calcific Aortic Disease with Immunologic Abnormalities, Familial	skos:exactMatch	MIM:114065	CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL	semapv:ManualMappingCuration	
DOID:9000396	Tetramelic Postaxial Oligodactyly	skos:exactMatch	MIM:176240	POSTAXIAL OLIGODACTYLY, TETRAMELIC	semapv:ManualMappingCuration	
DOID:9000398	Powell Chandra Saal Syndrome	skos:exactMatch	MIM:261575	PHAVER SYNDROME	semapv:ManualMappingCuration	2022-11-21
DOID:9000402	Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	skos:exactMatch	MIM:619721	Bryant-Li-Bhoj neurodevelopmental syndrome 2	semapv:ManualMappingCuration	2022-02-10
DOID:9000405	Echo Virus 11 Sensitivity	skos:exactMatch	MIM:129150	ECHO VIRUS 11 SENSITIVITY	semapv:ManualMappingCuration	2017-10-03
DOID:9000408	Porokeratosis 3, Multiple Types	skos:exactMatch	MIM:175900	Porokeratosis 3, multiple types	semapv:ManualMappingCuration	2017-10-03
DOID:9000409	Lopes-Maciel-Rodan Syndrome	skos:exactMatch	MIM:617435	Lopes-Maciel-Rodan syndrome	semapv:ManualMappingCuration	2017-06-16
DOID:9000410	Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula	skos:exactMatch	MIM:609345	CEREBRORENODIGITAL SYNDROME WITH LIMB MALFORMATIONS AND TRIRADIATE ACETABULA	semapv:ManualMappingCuration	
DOID:9000411	Porokeratosis 7, Multiple Types	skos:exactMatch	MIM:614714	Porokeratosis 7, multiple types	semapv:ManualMappingCuration	2017-03-30
DOID:9000413	Junctional Epidermolysis Bullosa 4, Intermediate	skos:exactMatch	MIM:619787	Epidermolysis bullosa, junctional 4, intermediate	semapv:ManualMappingCuration	2022-06-07
DOID:9000416	Ectodermal Dysplasia-Syndactyly Syndrome 2	skos:exactMatch	MIM:613576	Ectodermal dysplasia-syndactyly syndrome 2	semapv:ManualMappingCuration	2014-06-23
DOID:9000417	Glaucoma 1, Open Angle, P	skos:exactMatch	MIM:177700	Glaucoma 1, open angle, P	semapv:ManualMappingCuration	2014-10-20
DOID:9000418	heart-hand syndrome type 3	skos:exactMatch	MIM:140450	HEART-HAND SYNDROME, SPANISH TYPE	semapv:ManualMappingCuration	
DOID:9000419	Benign Familial Neonatal Seizures, 1	skos:exactMatch	MIM:121200	Myokymia	semapv:ManualMappingCuration	2014-06-23
DOID:9000420	Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis	skos:exactMatch	MIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	semapv:ManualMappingCuration	2019-03-20
DOID:9000421	Erosive Arthropathy	skos:exactMatch	MIM:605935	ARTHROPATHY, EROSIVE	semapv:ManualMappingCuration	
DOID:9000425	Fronto-Facio-Nasal Dysplasia	skos:exactMatch	MIM:229400	FRONTOFACIONASAL DYSPLASIA	semapv:ManualMappingCuration	2022-12-06
DOID:9000428	Prostate Cancer, Hereditary, 7	skos:exactMatch	MIM:610321	{Prostate cancer, hereditary, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:9000429	Nuclear Type Mitochondrial Complex I Deficiency 37	skos:exactMatch	MIM:619272	Mitochondrial complex I deficiency, nuclear type 37	semapv:ManualMappingCuration	2021-04-16
DOID:9000430	Platelet-Type Bleeding Disorder 24	skos:exactMatch	MIM:619271	Bleeding disorder, platelet-type, 24, autosomal dominant	semapv:ManualMappingCuration	2021-04-14
DOID:9000431	Mannose-Binding Protein Deficiency	skos:exactMatch	MIM:614372	{Chronic infections, due to MBL deficiency}	semapv:ManualMappingCuration	2017-10-10
DOID:9000432	Geniospasm	skos:exactMatch	MIM:190100	Geniospasm	semapv:ManualMappingCuration	2017-10-03
DOID:9000435	Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears	skos:exactMatch	MIM:278200	WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS	semapv:ManualMappingCuration	
DOID:9000436	Urofacial Syndrome 2	skos:exactMatch	MIM:615112	Urofacial syndrome 2	semapv:ManualMappingCuration	2014-09-02
DOID:9000441	Butyrylcholinesterase Deficiency	skos:exactMatch	MIM:617936	{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}	semapv:ManualMappingCuration	2018-08-31
DOID:9000442	Familial Thoracic Aortic Aneurysm 10	skos:exactMatch	MIM:617168	Aortic aneurysm, familial thoracic 10	semapv:ManualMappingCuration	2016-11-08
DOID:9000443	Intellectual Developmental Disorder with Autism and Macrocephaly	skos:exactMatch	MIM:615032	Intellectual developmental disorder with autism and macrocephaly	semapv:ManualMappingCuration	2015-06-08
DOID:9000447	Systemic Autoinflammatory Disease with Vasculitis	skos:exactMatch	MIM:620376	Autoinflammatory disease, systemic, with vasculitis	semapv:ManualMappingCuration	2023-05-30
DOID:9000448	Hyperlipidemia, Combined, 2	skos:exactMatch	MIM:604499	Hyperlipidemia, combined, 2	semapv:ManualMappingCuration	2018-02-28
DOID:9000450	Daish Hardman Lamont Syndrome	skos:exactMatch	MIM:236660	HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS	semapv:ManualMappingCuration	
DOID:9000454	Methylmalonyl-CoA Epimerase Deficiency	skos:exactMatch	MIM:251120	Methylmalonyl-CoA epimerase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9000455	Mousa Al din Al Nassar Syndrome	skos:exactMatch	MIM:271320	SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA	semapv:ManualMappingCuration	
DOID:9000460	Diaphragmatic Hernia 3	skos:exactMatch	MIM:610187	Diaphragmatic hernia 3	semapv:ManualMappingCuration	2017-10-03
DOID:9000462	Giant Axonal Neuropathy	skos:exactMatch	MIM:PS256850	Giant axonal neuropathy-1	semapv:ManualMappingCuration	2019-03-20
DOID:9000463	Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment	skos:exactMatch	MIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	semapv:ManualMappingCuration	2019-08-06
DOID:9000467	Marden-Walker Syndrome	skos:exactMatch	MIM:248700	?Marden-Walker syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9000468	Sucrosuria, Hiatus Hernia and Mental Retardation	skos:exactMatch	MIM:272000	SUCROSURIA, HIATUS HERNIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	2022-11-14
DOID:9000472	Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	skos:exactMatch	MIM:126190	DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS	semapv:ManualMappingCuration	2022-11-08
DOID:9000473	Familial Visceral Neuropathy	skos:exactMatch	MIM:PS243180	Visceral neuropathy, familial, 1, autosomal recessive	semapv:ManualMappingCuration	2022-10-11
DOID:9000476	Acrootoocular Syndrome	skos:exactMatch	MIM:264475	PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES	semapv:ManualMappingCuration	
DOID:9000478	Glaucoma 1, Open Angle, C	skos:exactMatch	MIM:601682	Glaucoma 1C, primary open angle	semapv:ManualMappingCuration	2014-06-23
DOID:9000481	Spinal Muscular Atrophy with Microcephaly and Mental Subnormality	skos:exactMatch	MIM:271110	SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	2022-12-06
DOID:9000485	Chromosome Xq21 Deletion Syndrome	skos:exactMatch	MIM:303110	Xq21 deletion syndrome	semapv:ManualMappingCuration	2021-08-25
DOID:9000486	Nanophthalmos 1	skos:exactMatch	MIM:600165	Nanophthalmos-1	semapv:ManualMappingCuration	2017-10-03
DOID:9000487	Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age	skos:exactMatch	MIM:602472	CREASES, INFRA-AURICULAR CUTANEOUS, WITH TALL STATURE AND ADVANCED BONE AGE	semapv:ManualMappingCuration	
DOID:9000492	Familial Isolated Hypoparathyroidism 1	skos:exactMatch	MIM:146200	Hypoparathyroidism, familial isolated 1	semapv:ManualMappingCuration	2017-10-03
DOID:9000493	Menke-Hennekam Syndrome 2	skos:exactMatch	MIM:618333	Menke-Hennekam syndrome 2	semapv:ManualMappingCuration	2019-02-25
DOID:9000502	DK Phocomelia Syndrome	skos:exactMatch	MIM:223340	DK PHOCOMELIA SYNDROME	semapv:ManualMappingCuration	
DOID:9000504	Beta-Amino Acids, Renal Transport of	skos:exactMatch	MIM:109660	BETA-AMINO ACIDS, RENAL TRANSPORT OF	semapv:ManualMappingCuration	2014-06-23
DOID:9000505	Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies	skos:exactMatch	MIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	semapv:ManualMappingCuration	2017-06-16
DOID:9000511	Senior-Loken Syndrome 4	skos:exactMatch	MIM:606996	Senior-Loken syndrome 4	semapv:ManualMappingCuration	2017-10-03
DOID:9000512	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination	skos:exactMatch	MIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	semapv:ManualMappingCuration	2019-03-28
DOID:9000515	Ichthyosis, Spastic Quadriplegia, and Mental Retardation	skos:exactMatch	MIM:614457	Ichthyosis, spastic quadriplegia, and impaired intellectual development	semapv:ManualMappingCuration	2014-09-09
DOID:9000520	Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	skos:exactMatch	MIM:261650	PEPCK deficiency, mitochondrial	semapv:ManualMappingCuration	2017-10-03
DOID:9000523	Generalized Epidermolysis Bullosa Simplex 1B	skos:exactMatch	MIM:131900	Epidermolysis bullosa simplex 1B, generalized intermediate	semapv:ManualMappingCuration	2017-10-03
DOID:9000524	Generalized Arterial Calcification of Infancy, 2	skos:exactMatch	MIM:614473	Arterial calcification, generalized, of infancy, 2	semapv:ManualMappingCuration	2014-09-02
DOID:9000525	Congenital Myopathy 11	skos:exactMatch	MIM:619967	Congenital myopathy 11	semapv:ManualMappingCuration	2022-07-27
DOID:9000526	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:619475	Developmental delay, impaired speech, and behavioral abnormalities	semapv:ManualMappingCuration	2021-10-18
DOID:9000528	Coronary Disease	skos:exactMatch	MIM:300464	{Coronary heart disease, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:9000528	Coronary Disease	skos:exactMatch	MIM:607339	{Coronary artery disease, resistance to}	semapv:ManualMappingCuration	2017-10-03
DOID:9000528	Coronary Disease	skos:exactMatch	MIM:608316	{Coronary heart disease, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:9000528	Coronary Disease	skos:exactMatch	MIM:608318	{Coronary heart disease, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:9000528	Coronary Disease	skos:exactMatch	MIM:608901	{Coronary heart disease, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:9000528	Coronary Disease	skos:exactMatch	MIM:610938	{Coronary heart disease, susceptibility to, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:9000528	Coronary Disease	skos:exactMatch	MIM:611139	{Coronary heart disease, susceptibility to, 8}	semapv:ManualMappingCuration	2017-10-03
DOID:9000528	Coronary Disease	skos:exactMatch	MIM:612030	{Coronary heart disease, susceptibility to, 9}	semapv:ManualMappingCuration	2017-10-03
DOID:9000528	Coronary Disease	skos:exactMatch	MIM:614466	{Coronary heart disease, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-10
DOID:9000530	ENDOVE SYNDROME, LIMB-BRAIN TYPE	skos:exactMatch	MIM:619218	?ENDOVE syndrome, limb-brain type	semapv:ManualMappingCuration	2021-04-08
DOID:9000535	Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2	skos:exactMatch	MIM:614441	PHOAR2-enteropathy syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9000539	Cleft Palate, Proliferative Retinopathy, and Developmental Delay	skos:exactMatch	MIM:619074	Cleft palate, proliferative retinopathy, and developmental delay	semapv:ManualMappingCuration	2020-11-02
DOID:9000541	Chondrodysplasia Calcificans Metaphysealis	skos:exactMatch	MIM:215050	CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS	semapv:ManualMappingCuration	2018-08-22
DOID:9000544	Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis	skos:exactMatch	MIM:600907	ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS	semapv:ManualMappingCuration	
DOID:9000547	CEBALID Syndrome	skos:exactMatch	MIM:618774	CEBALID syndrome	semapv:ManualMappingCuration	2020-03-12
DOID:9000557	Thrombocytopenia 1	skos:exactMatch	MIM:313900	Thrombocytopenia, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:9000559	Glyoxalase II Deficiency	skos:exactMatch	MIM:614033	[Glyoxalase II deficiency]	semapv:ManualMappingCuration	
DOID:9000562	Male Pseudohermaphroditism due to Defective LH Molecule	skos:exactMatch	MIM:152780	Hypogonadotropic hypogonadism 23 with or without anosmia	semapv:ManualMappingCuration	2014-10-20
DOID:9000565	Stargardt Disease 4	skos:exactMatch	MIM:603786	Stargardt disease 4	semapv:ManualMappingCuration	2017-10-03
DOID:9000566	Bifid Nose with or without Anorectal and Renal Anomalies	skos:exactMatch	MIM:608980	Bifid nose with or without anorectal and renal anomalies	semapv:ManualMappingCuration	2017-10-03
DOID:9000568	Analbuminemia	skos:exactMatch	MIM:616000	Analbuminemia	semapv:ManualMappingCuration	2016-06-08
DOID:9000569	Neonatal Self-Limited Primary Hyperparathyroidism with Hypercalciuria	skos:exactMatch	MIM:239199	HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA	semapv:ManualMappingCuration	
DOID:9000570	Skin/Hair/Eye Pigmentation, Variation In, 3	skos:exactMatch	MIM:601800	{Melanoma, cutaneous malignant, susceptibility to, 8}	semapv:ManualMappingCuration	2022-12-06
DOID:9000572	Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive	skos:exactMatch	MIM:256840	?Neuropathy, hereditary sensory, with spastic paraplegia	semapv:ManualMappingCuration	2017-10-03
DOID:9000576	Imperforate Hymen	skos:exactMatch	MIM:237100	HYMEN, IMPERFORATE	semapv:ManualMappingCuration	2022-11-14
DOID:9000578	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE	skos:exactMatch	MIM:618598	Spastic tetraplegia and axial hypotonia, progressive	semapv:ManualMappingCuration	2019-10-11
DOID:9000579	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY	skos:exactMatch	MIM:619844	Intellectual developmental disorder with or without peripheral neuropathy	semapv:ManualMappingCuration	2022-06-27
DOID:9000580	Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan	skos:exactMatch	MIM:203600	ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN	semapv:ManualMappingCuration	
DOID:9000583	Trigger Finger Disorder	skos:exactMatch	MIM:190410	TRIGGER THUMB	semapv:ManualMappingCuration	
DOID:9000585	Intervertebral Disc Disease	skos:exactMatch	MIM:603932	{Lumbar disc degeneration}	semapv:ManualMappingCuration	2017-10-03
DOID:9000588	Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy	skos:exactMatch	MIM:PS607250	?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	semapv:ManualMappingCuration	2019-05-01
DOID:9000589	Immotile Cilia Syndrome, due to Defective Radial Spokes	skos:exactMatch	MIM:242670	CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES	semapv:ManualMappingCuration	
DOID:9000594	Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1	skos:exactMatch	MIM:301108	?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1	semapv:ManualMappingCuration	2023-07-07
DOID:9000597	Hemolytic Poikilocytic Anemia due to Reduced Ankyrin Binding Sites	skos:exactMatch	MIM:141700	HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES	semapv:ManualMappingCuration	2022-11-29
DOID:9000599	Hyperbilirubinemia, Transient Familial Neonatal	skos:exactMatch	MIM:237900	Hyperbilirubinemia, familial transient neonatal	semapv:ManualMappingCuration	2017-10-03
DOID:9000602	Oocyte Maturation Defect 4	skos:exactMatch	MIM:617743	Oocyte/zygote/embryo maturation arrest 4	semapv:ManualMappingCuration	2017-12-06
DOID:9000603	Cardiomyopathy Associated with Myopathy and Sudden Death	skos:exactMatch	MIM:212130	CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH	semapv:ManualMappingCuration	
DOID:9000606	Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities	skos:exactMatch	MIM:608814	LATERAL SEMICIRCULAR CANAL MALFORMATION, FAMILIAL, WITH EXTERNAL AND MIDDLE EAR ABNORMALITIES	semapv:ManualMappingCuration	
DOID:9000609	Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus	skos:exactMatch	MIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	semapv:ManualMappingCuration	2017-10-10
DOID:9000613	Hyaline Membrane Disease	skos:exactMatch	MIM:267450	RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS	semapv:ManualMappingCuration	2017-10-03
DOID:9000615	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES	skos:exactMatch	MIM:619103	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	semapv:ManualMappingCuration	2021-01-18
DOID:9000617	Myelocerebellar Disorder	skos:exactMatch	MIM:159550	Ataxia-pancytopenia syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:9000619	Uncombable Hair Syndrome 1	skos:exactMatch	MIM:191480	Uncombable hair syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:9000621	Generalized Epidermolysis Bullosa Simplex 2D	skos:exactMatch	MIM:619599	Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive	semapv:ManualMappingCuration	2021-11-03
DOID:9000622	Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1	skos:exactMatch	MIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	semapv:ManualMappingCuration	2017-07-26
DOID:9000624	Charcot-Marie-Tooth Disease Type 1I	skos:exactMatch	MIM:619742	Charcot-Marie-Tooth disease, demyelinating, type 1I	semapv:ManualMappingCuration	2022-02-15
DOID:9000626	Familial Laryngeal Web	skos:exactMatch	MIM:150360	LARYNGEAL WEB, FAMILIAL	semapv:ManualMappingCuration	2022-10-31
DOID:9000628	Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities	skos:exactMatch	MIM:620113	Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities	semapv:ManualMappingCuration	2022-11-07
DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1	skos:exactMatch	MIM:610420	Preauricular tag, isolated, autosomal dominant, 1	semapv:ManualMappingCuration	2021-05-17
DOID:9000630	Lymphoblastic Transformation, Intrinsic Defect in	skos:exactMatch	MIM:247450	LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN	semapv:ManualMappingCuration	
DOID:9000631	Hyper-Beta-Alaninemia	skos:exactMatch	MIM:237400	HYPER-BETA-ALANINEMIA	semapv:ManualMappingCuration	
DOID:9000632	Lowry Wood Syndrome	skos:exactMatch	MIM:226960	Lowry-Wood syndrome	semapv:ManualMappingCuration	2020-09-14
DOID:9000635	Platelet Signal Processing Defect	skos:exactMatch	MIM:173590	PLATELET SIGNAL PROCESSING DEFECT	semapv:ManualMappingCuration	
DOID:9000636	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT	skos:exactMatch	MIM:619467	Usmani-Riazuddin syndrome, autosomal dominant	semapv:ManualMappingCuration	2021-12-14
DOID:9000637	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:618603	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	semapv:ManualMappingCuration	2019-10-10
DOID:9000639	COACH Syndrome 1	skos:exactMatch	MIM:216360	COACH syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9000642	Lymphedema and Cerebral Arteriovenous Anomaly	skos:exactMatch	MIM:152900	LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY	semapv:ManualMappingCuration	
DOID:9000644	Familial Hyperaldosteronism, Type III	skos:exactMatch	MIM:613677	Hyperaldosteronism, familial, type III	semapv:ManualMappingCuration	2014-09-09
DOID:9000646	Spinocerebellar Ataxia 49	skos:exactMatch	MIM:619806	?Spinocerebellar ataxia 49	semapv:ManualMappingCuration	2022-04-11
DOID:9000651	Abnormal Thyroid Hormone Metabolism 2	skos:exactMatch	MIM:619855	Thyroid hormone metabolism, abnormal, 2	semapv:ManualMappingCuration	2022-04-26
DOID:9000652	Cardiac Conduction Disease with or without Dilated Cardiomyopathy	skos:exactMatch	MIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy	semapv:ManualMappingCuration	2015-06-17
DOID:9000653	Lactic Aciduria due to D-Lactic Acid	skos:exactMatch	MIM:245450	D-lactic aciduria with susceptibility to gout	semapv:ManualMappingCuration	2019-04-10
DOID:9000654	Aortic Aneurysm, Familial Abdominal 1	skos:exactMatch	MIM:100070	Aortic aneurysm, familial abdominal 1	semapv:ManualMappingCuration	2017-10-03
DOID:9000662	Warburg-Cinotti Syndrome	skos:exactMatch	MIM:618175	Warburg-Cinotti syndrome	semapv:ManualMappingCuration	2020-02-17
DOID:9000664	Familial Thoracic Aortic Aneurysm 4	skos:exactMatch	MIM:132900	Aortic aneurysm, familial thoracic 4	semapv:ManualMappingCuration	2017-10-03
DOID:9000666	Raine Syndrome	skos:exactMatch	MIM:259775	Raine syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9000668	Nizon-Isidor Syndrome	skos:exactMatch	MIM:618872	Nizon-Isidor syndrome	semapv:ManualMappingCuration	2020-06-15
DOID:9000674	Agenesis of Gallbladder	skos:exactMatch	MIM:137040	GALLBLADDER, AGENESIS OF	semapv:ManualMappingCuration	
DOID:9000676	Tumor Predisposition Syndrome 2	skos:exactMatch	MIM:619975	Tumor predisposition syndrome 2	semapv:ManualMappingCuration	2022-08-08
DOID:9000677	Ehlers-Danlos Syndrome, Beasley Cohen Type	skos:exactMatch	MIM:608763	EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE	semapv:ManualMappingCuration	
DOID:9000682	Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome	skos:exactMatch	MIM:614195	?Craniofacial anomalies and anterior segment dysgenesis syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9000683	Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness	skos:exactMatch	MIM:267300	Distal renal tubular acidosis 2 with progressive sensorineural hearing loss	semapv:ManualMappingCuration	2017-10-03
DOID:9000686	Striatonigral Degeneration, Childhood-Onset	skos:exactMatch	MIM:617054	Striatonigral degeneration, childhood-onset	semapv:ManualMappingCuration	2016-09-13
DOID:9000687	Torticollis Keloids Cryptorchidism Renal Dysplasia	skos:exactMatch	MIM:314300	Goeminne TKCR syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9000691	Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia	skos:exactMatch	MIM:605040	CLAVICULAR HYPOPLASIA, ZYGOMATIC ARCH HYPOPLASIA, AND MICROGNATHIA	semapv:ManualMappingCuration	
DOID:9000692	Megarbane Syndrome	skos:exactMatch	MIM:606527	MEGARBANE SYNDROME	semapv:ManualMappingCuration	2022-12-12
DOID:9000693	Mitochondrial Complex III Deficiency Nuclear Type 10	skos:exactMatch	MIM:618775	Mitochondrial complex III deficiency, nuclear type 10	semapv:ManualMappingCuration	2020-02-17
DOID:9000696	Citrulline Transport Defect	skos:exactMatch	MIM:215720	CITRULLINE TRANSPORT DEFECT	semapv:ManualMappingCuration	
DOID:9000698	Oculopalatocerebral Syndrome	skos:exactMatch	MIM:257910	OCULOPALATOCEREBRAL SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:9000701	Acetyl-Coa Carboxylase Deficiency	skos:exactMatch	MIM:613933	Acetyl-CoA carboxylase deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:9000702	Stuve-Wiedemann Syndrome 2	skos:exactMatch	MIM:619751	Stuve-Wiedemann syndrome 2	semapv:ManualMappingCuration	2022-03-28
DOID:9000703	Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification	skos:exactMatch	MIM:210050	BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION	semapv:ManualMappingCuration	
DOID:9000708	Oocyte/Zygote/Embryo Maturation Arrest 16	skos:exactMatch	MIM:617234	Oocyte/zygote/embryo maturation arrest 16	semapv:ManualMappingCuration	2017-03-30
DOID:9000712	Trochlea of the Humerus, Aplasia of	skos:exactMatch	MIM:191000	TROCHLEA OF THE HUMERUS, APLASIA OF	semapv:ManualMappingCuration	
DOID:9000714	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS	skos:exactMatch	MIM:617306	COMMAD syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:9000715	Suppressor of Tumorigenicity 3	skos:exactMatch	MIM:191181	Cervical carcinoma	semapv:ManualMappingCuration	2014-06-23
DOID:9000717	Familial Multiple Coagulation Factor Deficiency I	skos:exactMatch	MIM:227300	Combined factor V and VIII deficiency	semapv:ManualMappingCuration	2014-06-23
DOID:9000717	Familial Multiple Coagulation Factor Deficiency I	skos:exactMatch	MIM:227310	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN C AND PROTEIN C INHIBITOR	semapv:ManualMappingCuration	2022-11-29
DOID:9000719	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	skos:exactMatch	MIM:249210	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	semapv:ManualMappingCuration	2021-05-28
DOID:9000720	Tetramelic Monodactyly	skos:exactMatch	MIM:187510	TETRAMELIC MONODACTYLY	semapv:ManualMappingCuration	
DOID:9000724	Corneodermatoosseous Syndrome	skos:exactMatch	MIM:122440	CORNEODERMATOOSSEOUS SYNDROME	semapv:ManualMappingCuration	
DOID:9000725	Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies	skos:exactMatch	MIM:614416	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	semapv:ManualMappingCuration	2014-09-09
DOID:9000730	Al-Gazali Syndrome	skos:exactMatch	MIM:609465	Al-Gazali syndrome	semapv:ManualMappingCuration	2022-11-14
DOID:9000732	Cone-Rod Dystrophy and Hearing Loss	skos:exactMatch	MIM:PS617236	Cone-rod dystrophy and hearing loss	semapv:ManualMappingCuration	2019-04-22
DOID:9000733	Joubert Syndrome 40	skos:exactMatch	MIM:619582	Joubert syndrome 40	semapv:ManualMappingCuration	2021-10-27
DOID:9000738	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY	skos:exactMatch	MIM:619234	Short stature, oligodontia, dysmorphic facies, and motor delay	semapv:ManualMappingCuration	2021-04-15
DOID:9000741	Chromate Resistance	skos:exactMatch	MIM:118840	CHROMATE RESISTANCE	semapv:ManualMappingCuration	
DOID:9000743	Microphthalmia/Coloboma 10	skos:exactMatch	MIM:616428	Microphthalmia/coloboma 10	semapv:ManualMappingCuration	2017-05-10
DOID:9000744	Congenital Disorder of Glycosylation Type IIr	skos:exactMatch	MIM:301045	Congenital disorder of glycosylation, type IIr	semapv:ManualMappingCuration	2020-04-22
DOID:9000745	Focal Facial Dermal Dysplasia	skos:exactMatch	MIM:PS136500	FOCAL FACIAL DERMAL DYSPLASIA 1, BRAUER TYPE	semapv:ManualMappingCuration	2021-12-08
DOID:9000749	Cloverleaf Skull Micromelia Thoracic Dysplasia	skos:exactMatch	MIM:156830	MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL	semapv:ManualMappingCuration	2022-11-14
DOID:9000750	Waardenburg Syndrome Type 2F	skos:exactMatch	MIM:619947	Waardenburg syndrome, type 2F	semapv:ManualMappingCuration	2022-07-06
DOID:9000751	Absence of Tibia	skos:exactMatch	MIM:275220	?Tibial hemimelia	semapv:ManualMappingCuration	2017-10-03
DOID:9000752	Skin/Hair/Eye Pigmentation, Variation In, 1	skos:exactMatch	MIM:227220	[Skin/hair/eye pigmentation 1, blond/brown hair]	semapv:ManualMappingCuration	2015-07-16
DOID:9000754	Infantile Hypertrophic Pyloric Stenosis 3	skos:exactMatch	MIM:612017	Pyloric stenosis, infantile hypertrophic, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9000756	Persistent Polyclonal B-Cell Lymphocytosis	skos:exactMatch	MIM:606445	PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS	semapv:ManualMappingCuration	2014-10-20
DOID:9000760	Ovarian Dysgenesis 9	skos:exactMatch	MIM:619665	Ovarian dysgenesis 9	semapv:ManualMappingCuration	2021-12-22
DOID:9000762	Immunodeficiency 88	skos:exactMatch	MIM:619630	?Immunodeficiency 88	semapv:ManualMappingCuration	2021-11-30
DOID:9000763	Focal Facial Dermal Dysplasia 4	skos:exactMatch	MIM:614974	Focal facial dermal dysplasia 4	semapv:ManualMappingCuration	2014-09-09
DOID:9000765	Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy	skos:exactMatch	MIM:606183	LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY	semapv:ManualMappingCuration	
DOID:9000771	Diverticulosis of Bowel, Hernia, and Retinal Detachment	skos:exactMatch	MIM:223330	DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT	semapv:ManualMappingCuration	2022-11-29
DOID:9000776	Hyperglycinemia, Lactic Acidosis, and Seizures	skos:exactMatch	MIM:614462	Hyperglycinemia, lactic acidosis, and seizures	semapv:ManualMappingCuration	2014-09-09
DOID:9000778	Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects	skos:exactMatch	MIM:603642	ATRIAL SEPTAL DEFECT, SECUNDUM, WITH VARIOUS CARDIAC AND NONCARDIAC DEFECTS	semapv:ManualMappingCuration	2022-10-31
DOID:9000779	Hypospadias 1, X-Linked	skos:exactMatch	MIM:300633	Hypospadias 1, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:9000782	Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism	skos:exactMatch	MIM:118301	CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM	semapv:ManualMappingCuration	
DOID:9000783	Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities	skos:exactMatch	MIM:600461	HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL AND OTHER ABNORMALITIES	semapv:ManualMappingCuration	
DOID:9000785	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2	skos:exactMatch	MIM:614743	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2	semapv:ManualMappingCuration	2015-06-11
DOID:9000788	Preauricular Fistulae, Congenital	skos:exactMatch	MIM:128700	?Preauricular fistulae, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:9000789	Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus	skos:exactMatch	MIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus	semapv:ManualMappingCuration	2014-09-09
DOID:9000792	Methemoglobinemia, Beta-Globin Type	skos:exactMatch	MIM:617971	Methemoglobinemia, beta type	semapv:ManualMappingCuration	2014-10-20
DOID:9000793	Fine-Lubinsky Syndrome	skos:exactMatch	MIM:601353	BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9000795	Immunodeficiency 104	skos:exactMatch	MIM:608971	Immunodeficiency 104, severe combined	semapv:ManualMappingCuration	2017-10-03
DOID:9000799	Nodular Lymphocytic Vasculitis	skos:exactMatch	MIM:192310	VASCULITIS, LYMPHOCYTIC, NODULAR	semapv:ManualMappingCuration	
DOID:9000803	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	skos:exactMatch	MIM:619431	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	semapv:ManualMappingCuration	2021-07-16
DOID:9000804	Intellectual Developmental Disorder with Seizures and Language Delay	skos:exactMatch	MIM:619000	Intellectual developmental disorder with seizures and language delay	semapv:ManualMappingCuration	2020-09-18
DOID:9000806	Metaphyseal Anadysplasia 2	skos:exactMatch	MIM:613073	Metaphyseal anadysplasia 2	semapv:ManualMappingCuration	2017-10-03
DOID:9000810	HYPERTRIGLYCERIDEMIA 1	skos:exactMatch	MIM:145750	{Hypertriglyceridemia, susceptibility to}	semapv:ManualMappingCuration	2021-08-13
DOID:9000813	Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation	skos:exactMatch	MIM:270950	SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9000814	Mucopolysaccharidosis X	skos:exactMatch	MIM:619698	Mucopolysaccharidosis, type X	semapv:ManualMappingCuration	2022-01-10
DOID:9000816	Chronic Pericardial Effusion	skos:exactMatch	MIM:260900	PERICARDIAL EFFUSION, CHRONIC	semapv:ManualMappingCuration	2022-10-31
DOID:9000819	Stickler Syndrome, Type VI	skos:exactMatch	MIM:620022	Stickler syndrome, type VI	semapv:ManualMappingCuration	2022-09-06
DOID:9000823	Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull	skos:exactMatch	MIM:601163	DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL	semapv:ManualMappingCuration	
DOID:9000824	Dysautonomia Like Disorder	skos:exactMatch	MIM:224000	DYSAUTONOMIA-LIKE DISORDER	semapv:ManualMappingCuration	
DOID:9000827	Primary Retinal Dysplasia	skos:exactMatch	MIM:312550	RETINAL DYSPLASIA, PRIMARY	semapv:ManualMappingCuration	2014-06-23
DOID:9000832	Congenital Neuropathy with Arthrogryposis Multiplex	skos:exactMatch	MIM:162370	NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX	semapv:ManualMappingCuration	
DOID:9000834	Chitty Hall Baraitser Syndrome	skos:exactMatch	MIM:601351	GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION	semapv:ManualMappingCuration	
DOID:9000835	Anterior Diaphragmatic Hernia	skos:exactMatch	MIM:306950	Diaphragmatic hernia 5, X-linked	semapv:ManualMappingCuration	
DOID:9000836	Diaphanospondylodysostosis	skos:exactMatch	MIM:608022	Diaphanospondylodysostosis	semapv:ManualMappingCuration	2014-10-20
DOID:9000838	Growth Mental Deficiency Syndrome of Myhre	skos:exactMatch	MIM:139210	Myhre syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9000839	Ichthyosis Hystrix Gravior	skos:exactMatch	MIM:146600	?Ichthyosis histrix, Lambert type	semapv:ManualMappingCuration	
DOID:9000840	Herpes Simplex Encephalitis 7	skos:exactMatch	MIM:616532	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}	semapv:ManualMappingCuration	2017-07-11
DOID:9000844	Oculopharyngeal Muscular Dystrophy 2	skos:exactMatch	MIM:620460	Oculopharyngeal muscular dystrophy 2	semapv:ManualMappingCuration	2023-08-04
DOID:9000846	Say Syndrome	skos:exactMatch	MIM:181180	SAY SYNDROME	semapv:ManualMappingCuration	
DOID:9000848	Charcot-Marie-Tooth Disease Type 1H	skos:exactMatch	MIM:619764	Charcot-Marie-Tooth disease, demyelinating, type 1H	semapv:ManualMappingCuration	2022-03-07
DOID:9000849	Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome	skos:exactMatch	MIM:616108	?Retinal dystrophy, juvenile cataracts, and short stature syndrome	semapv:ManualMappingCuration	2016-07-12
DOID:9000850	Junctional Epidermolysis Bullosa 1A, Intermediate	skos:exactMatch	MIM:226650	Epidermolysis bullosa, junctional 1A, intermediate	semapv:ManualMappingCuration	2017-10-03
DOID:9000851	Congenital Cerebral Granulomas	skos:exactMatch	MIM:306300	GRANULOMAS, CONGENITAL CEREBRAL	semapv:ManualMappingCuration	2020-06-25
DOID:9000852	Severe Congenital Neutropenia 9, Autosomal Dominant	skos:exactMatch	MIM:619813	Neutropenia, severe congenital, 9, autosomal dominant	semapv:ManualMappingCuration	2022-04-12
DOID:9000853	Acropectoral Syndrome	skos:exactMatch	MIM:605967	Acropectoral syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9000854	Lethal Congenital Contracture Syndrome 7	skos:exactMatch	MIM:616286	Lethal congenital contracture syndrome 7	semapv:ManualMappingCuration	2017-05-01
DOID:9000856	FG Syndrome 5	skos:exactMatch	MIM:300581	FG syndrome 5	semapv:ManualMappingCuration	2017-10-03
DOID:9000858	Idiopathic Basal Ganglia Calcification 4	skos:exactMatch	MIM:615007	Basal ganglia calcification, idiopathic, 4	semapv:ManualMappingCuration	2014-09-02
DOID:9000860	Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency	skos:exactMatch	MIM:125890	DIARRHEA, GLUCOSE-STIMULATED SECRETORY, WITH COMMON VARIABLE IMMUNODEFICIENCY	semapv:ManualMappingCuration	
DOID:9000862	Glaucoma 1, Open Angle, N	skos:exactMatch	MIM:611274	Glaucoma 1, open angle, N	semapv:ManualMappingCuration	2017-10-03
DOID:9000864	Lymphokine Deficiency	skos:exactMatch	MIM:247650	LYMPHOKINE DEFICIENCY	semapv:ManualMappingCuration	
DOID:9000865	Amastia	skos:exactMatch	MIM:PS113700	BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1	semapv:ManualMappingCuration	2019-03-19
DOID:9000868	Immunodeficiency 86	skos:exactMatch	MIM:619549	Immunodeficiency 86, mycobacteriosis	semapv:ManualMappingCuration	2021-10-15
DOID:9000869	Cole Disease	skos:exactMatch	MIM:615522	Cole disease	semapv:ManualMappingCuration	2014-09-09
DOID:9000872	Charcot-Marie-Tooth Disease Type 6C	skos:exactMatch	MIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy	semapv:ManualMappingCuration	2019-09-09
DOID:9000874	Hyperparathyroidism, Neonatal Severe Primary	skos:exactMatch	MIM:239200	Hyperparathyroidism, neonatal	semapv:ManualMappingCuration	2017-10-03
DOID:9000876	DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME	skos:exactMatch	MIM:619955	Dworschak-Punetha neurodevelopmental syndrome	semapv:ManualMappingCuration	2022-12-06
DOID:9000880	Cataract Ataxia Deafness	skos:exactMatch	MIM:212710	CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME	semapv:ManualMappingCuration	
DOID:9000882	Pseudohypoparathyroidism Type IC	skos:exactMatch	MIM:612462	Pseudohypoparathyroidism Ic	semapv:ManualMappingCuration	2017-05-30
DOID:9000883	Familial Reactive Perforating Collagenosis	skos:exactMatch	MIM:216700	COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING	semapv:ManualMappingCuration	
DOID:9000884	Rhabdomyolysis	skos:exactMatch	MIM:620235	{Rhabdomyolysis, susceptibility to, 1}	semapv:ManualMappingCuration	2023-02-06
DOID:9000885	Macrosomia with Lethal Microphthalmia	skos:exactMatch	MIM:248110	MACROSOMIA WITH MICROPHTHALMIA, LETHAL	semapv:ManualMappingCuration	
DOID:9000886	Roifman-Chitayat Syndrome	skos:exactMatch	MIM:613328	?Roifman-Chitayat syndrome, digenic	semapv:ManualMappingCuration	2017-10-03
DOID:9000890	Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones	skos:exactMatch	MIM:157800	Cardiospondylocarpofacial syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:9000891	Hereditary Bilateral Parotidomegaly	skos:exactMatch	MIM:168800	PAROTIDOMEGALY, HEREDITARY BILATERAL	semapv:ManualMappingCuration	
DOID:9000896	Larsen-Like Syndromes	skos:exactMatch	MIM:608545	Larsen-like syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9000897	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME	skos:exactMatch	MIM:618974	Li-Ghorgani-Weisz-Hubshman syndrome	semapv:ManualMappingCuration	2020-12-14
DOID:9000898	Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism	skos:exactMatch	MIM:601217	ALOPECIA-IMPAIRED INTELLECTUAL DEVELOPMENTAL SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC HYPOGONADISM	semapv:ManualMappingCuration	2022-12-06
DOID:9000899	Charcot-Marie-Tooth Disease Axonal Type 2II	skos:exactMatch	MIM:620068	Charcot-Marie-Tooth disease, axonal, type 2II	semapv:ManualMappingCuration	2022-10-10
DOID:9000903	Methemoglobin Reductase Deficiency	skos:exactMatch	MIM:250700	METHEMOGLOBIN REDUCTASE DEFICIENCY	semapv:ManualMappingCuration	
DOID:9000904	Yemenite Deaf-Blind Hypopigmentation Syndrome	skos:exactMatch	MIM:601706	YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:9000905	Tenorio Syndrome	skos:exactMatch	MIM:616260	Tenorio syndrome	semapv:ManualMappingCuration	2017-04-19
DOID:9000911	Autosomal Dominant Intellectual Developmental Disorder 60	skos:exactMatch	MIM:618587	Intellectual developmental disorder 60 with seizures	semapv:ManualMappingCuration	2019-09-18
DOID:9000912	Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate	skos:exactMatch	MIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	semapv:ManualMappingCuration	2019-09-13
DOID:9000914	Pachyonychia Congenita 3	skos:exactMatch	MIM:615726	Pachyonychia congenita 3	semapv:ManualMappingCuration	2017-10-10
DOID:9000938	Sudden Infant Death with Dysgenesis of the Testes Syndrome	skos:exactMatch	MIM:608800	Sudden infant death with dysgenesis of the testes syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9000939	Split Hand, Split Foot, Nystagmus	skos:exactMatch	MIM:183800	SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS	semapv:ManualMappingCuration	
DOID:9000941	Elliptocytosis 2	skos:exactMatch	MIM:130600	Elliptocytosis-2	semapv:ManualMappingCuration	2017-10-03
DOID:9000942	Actinic Prurigo	skos:exactMatch	MIM:174770	ACTINIC PRURIGO	semapv:ManualMappingCuration	
DOID:9000943	Lethal Congenital Contracture Syndrome 11	skos:exactMatch	MIM:617194	Lethal congenital contracture syndrome 11	semapv:ManualMappingCuration	2017-05-01
DOID:9000944	Primary Congenital Glaucoma 3, C	skos:exactMatch	MIM:613085	Glaucoma 3, primary congenital, C	semapv:ManualMappingCuration	2014-06-23
DOID:9000946	Schilbach-Rott Syndrome	skos:exactMatch	MIM:164220	SCHILBACH-ROTT SYNDROME	semapv:ManualMappingCuration	2022-01-20
DOID:9000947	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM	skos:exactMatch	MIM:300123	Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9000949	DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES	skos:exactMatch	MIM:617991	Chung-Jansen syndrome	semapv:ManualMappingCuration	2018-06-18
DOID:9000950	Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome	skos:exactMatch	MIM:618343	Polymicrogyria with or without vascular-type EDS	semapv:ManualMappingCuration	2019-03-06
DOID:9000951	Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis	skos:exactMatch	MIM:614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	semapv:ManualMappingCuration	2014-09-09
DOID:9000956	Hyperlipoproteinemia Type II, and Deafness	skos:exactMatch	MIM:144300	HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS	semapv:ManualMappingCuration	
DOID:9000957	lymphatic malformation 6	skos:exactMatch	MIM:616843	Lymphatic malformation 6	semapv:ManualMappingCuration	2016-04-14
DOID:9000958	Popliteal Cyst	skos:exactMatch	MIM:175750	POPLITEAL CYST	semapv:ManualMappingCuration	2022-11-08
DOID:9000963	Hereditary Epistaxis	skos:exactMatch	MIM:132500	EPISTAXIS, HEREDITARY	semapv:ManualMappingCuration	
DOID:9000964	Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin	skos:exactMatch	MIM:601039	ICHTHYOSIS-IMPAIRED INTELLECTUAL DEVELOPMENTAL SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN	semapv:ManualMappingCuration	2022-11-28
DOID:9000967	Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development	skos:exactMatch	MIM:609579	?Scaphocephaly, maxillary retrusion, and impaired intellectual development	semapv:ManualMappingCuration	2017-10-03
DOID:9000968	Familial Thymoma	skos:exactMatch	MIM:274230	THYMOMA, FAMILIAL	semapv:ManualMappingCuration	2017-10-03
DOID:9000975	Spondyloepimetaphyseal Dysplasia, Krakow Type	skos:exactMatch	MIM:618162	?Spondyloepimetaphyseal dysplasia, Krakow type	semapv:ManualMappingCuration	2019-02-08
DOID:9000980	Martsolf Syndrome 2	skos:exactMatch	MIM:619420	Martsolf syndrome 2	semapv:ManualMappingCuration	2021-07-08
DOID:9000986	Selective Tooth Agenesis, X-Linked, 1	skos:exactMatch	MIM:313500	Tooth agenesis, selective, X-linked 1	semapv:ManualMappingCuration	2017-10-03
DOID:9000987	Cerebroretinal Microangiopathy with Calcifications and Cysts 3	skos:exactMatch	MIM:620368	?Cerebroretinal microangiopathy with calcifications and cysts 3	semapv:ManualMappingCuration	2023-05-12
DOID:9000988	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2	skos:exactMatch	MIM:619418	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2	semapv:ManualMappingCuration	2021-07-09
DOID:9000991	SULEIMAN-EL-HATTAB SYNDROME	skos:exactMatch	MIM:618950	Suleiman-El-Hattab syndrome	semapv:ManualMappingCuration	2020-11-13
DOID:9000995	Undritz Anomaly	skos:exactMatch	MIM:191500	UNDRITZ ANOMALY	semapv:ManualMappingCuration	
DOID:9000997	Tsukahara Syndrome	skos:exactMatch	MIM:603438	TSUKAHARA SYNDROME	semapv:ManualMappingCuration	2022-12-05
DOID:9000999	Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2	skos:exactMatch	MIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	semapv:ManualMappingCuration	2016-03-10
DOID:9001002	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES	skos:exactMatch	MIM:618659	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	semapv:ManualMappingCuration	2020-01-14
DOID:9001004	Chronic Periodontitis	skos:exactMatch	MIM:260950	PERIODONTITIS, CHRONIC	semapv:ManualMappingCuration	
DOID:9001005	Complex Cortical Dysplasia with Other Brain Malformations 9	skos:exactMatch	MIM:618174	Cortical dysplasia, complex, with other brain malformations 9	semapv:ManualMappingCuration	2019-01-11
DOID:9001007	X-Linked Macular Dystrophy	skos:exactMatch	MIM:309100	MACULAR DYSTROPHY, X-LINKED	semapv:ManualMappingCuration	2022-11-21
DOID:9001022	Congenital Disorder of Glycosylation with Defective Fucosylation	skos:exactMatch	MIM:PS618005	Congenital disorder of glycosylation with defective fucosylation 1	semapv:ManualMappingCuration	2019-03-15
DOID:9001025	Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency	skos:exactMatch	MIM:165150	OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY	semapv:ManualMappingCuration	
DOID:9001026	Pulmonary Surfactant Metabolism Dysfunction 1	skos:exactMatch	MIM:265120	Surfactant metabolism dysfunction, pulmonary, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9001027	Tropical Calcific Pancreatitis	skos:exactMatch	MIM:608189	{Fibrocalculous pancreatic diabetes, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9001028	Scalp Defects, Postaxial Polydactyly	skos:exactMatch	MIM:181250	SCALP DEFECTS AND POSTAXIAL POLYDACTYLY	semapv:ManualMappingCuration	
DOID:9001029	Essential Athrombia	skos:exactMatch	MIM:209050	ATHROMBIA, ESSENTIAL	semapv:ManualMappingCuration	
DOID:9001033	Friedreich Ataxia Congenital Glaucoma	skos:exactMatch	MIM:229310	FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA	semapv:ManualMappingCuration	
DOID:9001040	Sinus Node Disease and Myopia	skos:exactMatch	MIM:182190	SINUS NODE DISEASE AND MYOPIA	semapv:ManualMappingCuration	
DOID:9001042	Neurodevelopmental Disorder with Seizures and Brain Abnormalities	skos:exactMatch	MIM:619517	Neurodevelopmental disorder with seizures and brain abnormalities	semapv:ManualMappingCuration	2022-11-21
DOID:9001046	Desbuquois Dysplasia 2	skos:exactMatch	MIM:615777	Desbuquois dysplasia 2	semapv:ManualMappingCuration	2017-03-03
DOID:9001047	Slipped Capital Femoral Epiphyses	skos:exactMatch	MIM:182260	SLIPPED FEMORAL CAPITAL EPIPHYSES	semapv:ManualMappingCuration	
DOID:9001050	Short QT Syndrome 2	skos:exactMatch	MIM:609621	Short QT syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:9001052	Spondylospinal Thoracic Dysostosis	skos:exactMatch	MIM:601809	SPONDYLOSPINAL THORACIC DYSOSTOSIS	semapv:ManualMappingCuration	
DOID:9001055	Oculoauriculofrontonasal Syndrome	skos:exactMatch	MIM:601452	OCULOAURICULOFRONTONASAL SYNDROME	semapv:ManualMappingCuration	
DOID:9001056	Holoprosencephaly 14	skos:exactMatch	MIM:619895	Holoprosencephaly 14	semapv:ManualMappingCuration	2022-05-31
DOID:9001059	Inhibition of Lymphoblastic Transformation	skos:exactMatch	MIM:247430	LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF	semapv:ManualMappingCuration	
DOID:9001060	JOUBERT SYNDROME 35	skos:exactMatch	MIM:618161	Joubert syndrome 35	semapv:ManualMappingCuration	2018-12-06
DOID:9001061	Atypical Krabbe Disease due to Saposin A Deficiency	skos:exactMatch	MIM:611722	Krabbe disease, atypical	semapv:ManualMappingCuration	2017-10-03
DOID:9001062	Normal Tension Glaucoma	skos:exactMatch	MIM:606657	{Glaucoma, normal tension, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:9001064	Hao-Fountain Syndrome	skos:exactMatch	MIM:616863	Hao-Fountain syndrome	semapv:ManualMappingCuration	2020-06-16
DOID:9001065	Noncirrhotic Portal Hypertension 1	skos:exactMatch	MIM:617068	PORTAL HYPERTENSION, NONCIRRHOTIC, 1	semapv:ManualMappingCuration	2021-08-06
DOID:9001067	Familial Macrocytosis	skos:exactMatch	MIM:600084	MACROCYTOSIS, FAMILIAL	semapv:ManualMappingCuration	2017-10-03
DOID:9001073	Precocious Graying of Hair	skos:exactMatch	MIM:139100	GRAYING OF HAIR, PRECOCIOUS	semapv:ManualMappingCuration	
DOID:9001080	Robinow Sorauf Syndrome	skos:exactMatch	MIM:180750	Robinow-Sorauf syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9001082	Ectodermal Dysplasia with Natal Teeth, Turnpenny Type	skos:exactMatch	MIM:601345	ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE	semapv:ManualMappingCuration	
DOID:9001084	Progressive Supranuclear Palsy 2	skos:exactMatch	MIM:609454	Supranuclear palsy, progressive, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9001086	Cerebellar Ataxia and Neurosensory Deafness	skos:exactMatch	MIM:212850	CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS	semapv:ManualMappingCuration	2022-11-29
DOID:9001088	Spondyloepimetaphyseal Dysplasia, Aggrecan Type	skos:exactMatch	MIM:612813	Spondyloepimetaphyseal dysplasia, aggrecan type	semapv:ManualMappingCuration	2017-10-03
DOID:9001089	Cerebellar Ataxia and Hypergonadotropic Hypogonadism	skos:exactMatch	MIM:605672	CEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM	semapv:ManualMappingCuration	2022-12-16
DOID:9001090	Question Mark Ears, Isolated	skos:exactMatch	MIM:612798	Question mark ears, isolated	semapv:ManualMappingCuration	2014-09-09
DOID:9001091	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES	skos:exactMatch	MIM:618653	Intellectual developmental disorder with impaired language and dysmorphic facies	semapv:ManualMappingCuration	2020-01-09
DOID:9001094	Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities	skos:exactMatch	MIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	semapv:ManualMappingCuration	2017-06-16
DOID:9001097	Absence of Tibia with Congenital Deafness	skos:exactMatch	MIM:275230	TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS	semapv:ManualMappingCuration	
DOID:9001104	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	skos:exactMatch	MIM:619351	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	semapv:ManualMappingCuration	2021-05-28
DOID:9001105	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE	skos:exactMatch	MIM:618973	Sodium-dependent multivitamin transporter deficiency	semapv:ManualMappingCuration	2020-12-15
DOID:9001107	Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death	skos:exactMatch	MIM:208910	ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH	semapv:ManualMappingCuration	2022-12-06
DOID:9001110	Hermansky-Pudlak Syndrome 11	skos:exactMatch	MIM:619172	Hermansky-Pudlak syndrome 11	semapv:ManualMappingCuration	2021-02-01
DOID:9001112	Nievergelt Syndrome	skos:exactMatch	MIM:163400	NIEVERGELT SYNDROME	semapv:ManualMappingCuration	2022-11-29
DOID:9001114	Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies	skos:exactMatch	MIM:619750	?Immunodeficiency 94 with autoinflammation and dysmorphic facies	semapv:ManualMappingCuration	2022-02-24
DOID:9001116	Mental Retardation with Spastic Paraplegia	skos:exactMatch	MIM:309640	MENTAL RETARDATION WITH SPASTIC PARAPLEGIA	semapv:ManualMappingCuration	
DOID:9001117	Aicardi-Goutieres Syndrome 8	skos:exactMatch	MIM:619486	?Aicardi-Goutieres syndrome 8	semapv:ManualMappingCuration	2021-08-25
DOID:9001122	Onat Syndrome	skos:exactMatch	MIM:271960	SUBAORTIC STENOSIS--SHORT STATURE SYNDROME	semapv:ManualMappingCuration	2022-12-12
DOID:9001123	Preeclampsia/Eclampsia 2	skos:exactMatch	MIM:609402	Preeclampsia/eclampsia 2	semapv:ManualMappingCuration	2017-10-03
DOID:9001125	Vohwinkel Syndrome, Variant Form	skos:exactMatch	MIM:604117	Vohwinkel syndrome with ichthyosis	semapv:ManualMappingCuration	2017-10-03
DOID:9001127	Porokeratosis 2, Palmar, Plantar, and Disseminated Type	skos:exactMatch	MIM:175850	Porokeratosis 2, palmar, plantar, and disseminated	semapv:ManualMappingCuration	2017-10-03
DOID:9001134	Cryptomicrotia Brachydactyly Syndrome	skos:exactMatch	MIM:123560	CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME	semapv:ManualMappingCuration	
DOID:9001137	Mesomelic Dysplasia, Camera Type	skos:exactMatch	MIM:611886	MESOMELIC DYSPLASIA, CAMERA TYPE	semapv:ManualMappingCuration	
DOID:9001138	Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract	skos:exactMatch	MIM:226985	EPITHELIAL SQUAMOUS DYSPLASIA, KERATINIZING DESQUAMATIVE, OF URINARY TRACT	semapv:ManualMappingCuration	
DOID:9001139	Androgenetic Alopecia 2	skos:exactMatch	MIM:300710	Alopecia, androgenetic, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9001140	Familial Partial Lipodystrophy Type 7	skos:exactMatch	MIM:606721	Lipodystrophy, familial partial, type 7	semapv:ManualMappingCuration	2014-10-20
DOID:9001141	Autosomal Dominant Intellectual Developmental Disorder 66	skos:exactMatch	MIM:619910	Intellectual developmental disorder, autosomal dominant 66	semapv:ManualMappingCuration	2022-06-13
DOID:9001145	Junctional Epidermolysis Bullosa 1B, Severe	skos:exactMatch	MIM:226700	Epidermolysis bullosa, junctional 1B, severe	semapv:ManualMappingCuration	2018-01-24
DOID:9001146	Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures	skos:exactMatch	MIM:618879	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	semapv:ManualMappingCuration	2020-07-13
DOID:9001147	Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	skos:exactMatch	MIM:600142	CARASIL syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9001150	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES	skos:exactMatch	MIM:618622	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	semapv:ManualMappingCuration	2019-11-12
DOID:9001152	Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block	skos:exactMatch	MIM:609438	INTELLECTUAL DEVELOPMENTAL DISORDER WITH KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL BLOCK	semapv:ManualMappingCuration	2022-12-12
DOID:9001153	FG Syndrome 4	skos:exactMatch	MIM:300422	FG syndrome 4	semapv:ManualMappingCuration	2017-10-03
DOID:9001154	Flat Umbilicus Familial	skos:exactMatch	MIM:609164	UMBILICUS, FAMILIAL FLAT	semapv:ManualMappingCuration	
DOID:9001155	Myasthenia Gravis with Thymus Hyperplasia	skos:exactMatch	MIM:607085	Myasthenia gravis with thymus hyperplasia	semapv:ManualMappingCuration	2017-10-03
DOID:9001158	Saito Kuba Tsuruta Syndrome	skos:exactMatch	MIM:228940	FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES	semapv:ManualMappingCuration	2022-10-31
DOID:9001159	Familial Dyskeratotic Comedones	skos:exactMatch	MIM:120450	COMEDONES, FAMILIAL DYSKERATOTIC	semapv:ManualMappingCuration	
DOID:9001160	Pulmonary Bullae Causing Pneumothorax	skos:exactMatch	MIM:265200	PULMONARY BULLAE CAUSING PNEUMOTHORAX	semapv:ManualMappingCuration	
DOID:9001161	Autoinflammatory Disease, Familial, Behcet-Like-3	skos:exactMatch	MIM:618287	Autoinflammatory disease, familial, Behcet-like-3	semapv:ManualMappingCuration	2019-07-15
DOID:9001163	Parkinsonism-Dystonia, Childhood-Onset, 3	skos:exactMatch	MIM:619738	Parkinsonism-dystonia 3, childhood-onset	semapv:ManualMappingCuration	2022-02-21
DOID:9001167	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM	skos:exactMatch	MIM:619244	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	semapv:ManualMappingCuration	2021-05-14
DOID:9001169	Ridges-off-the-end Syndrome	skos:exactMatch	MIM:125550	DERMAL RIDGES-OFF-THE-END	semapv:ManualMappingCuration	
DOID:9001171	Acrorenal Syndrome Recessive	skos:exactMatch	MIM:201310	ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	2018-08-22
DOID:9001179	Isotretinoin Embryopathy Like Syndrome	skos:exactMatch	MIM:243440	ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME	semapv:ManualMappingCuration	
DOID:9001180	Duodenal Ulcer, Hyperpepsinogenemic I	skos:exactMatch	MIM:126850	DUODENAL ULCER, HYPERPEPSINOGENEMIC I	semapv:ManualMappingCuration	
DOID:9001181	Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism	skos:exactMatch	MIM:300845	Moyamoya disease 4	semapv:ManualMappingCuration	2014-06-23
DOID:9001184	Widow's Peak Syndrome	skos:exactMatch	MIM:314570	WIDOW'S PEAK SYNDROME	semapv:ManualMappingCuration	
DOID:9001185	Coloboma of Macula with Type B Brachydactyly	skos:exactMatch	MIM:120400	COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY	semapv:ManualMappingCuration	2022-11-29
DOID:9001186	Retinitis Pigmentosa 93	skos:exactMatch	MIM:619845	Retinitis pigmentosa 93	semapv:ManualMappingCuration	2022-04-21
DOID:9001192	Alpha-2-Deficient Collagen Disease	skos:exactMatch	MIM:203760	ALPHA-2-DEFICIENT COLLAGEN DISEASE	semapv:ManualMappingCuration	
DOID:9001197	Unilateral Deafness with Delayed Endolymphatic Hydrops	skos:exactMatch	MIM:612097	DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS	semapv:ManualMappingCuration	2022-11-21
DOID:9001198	Hypophosphatemic Rickets, Autosomal Recessive, 2	skos:exactMatch	MIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9001199	Galloway-Mowat Syndrome 7	skos:exactMatch	MIM:618348	Galloway-Mowat syndrome 7	semapv:ManualMappingCuration	2019-03-12
DOID:9001200	Xylosidase Deficiency	skos:exactMatch	MIM:278900	XYLOSIDASE DEFICIENCY	semapv:ManualMappingCuration	
DOID:9001201	Methemoglobinemia, Alpha-Globin Type	skos:exactMatch	MIM:617973	Methemoglobinemia, alpha type	semapv:ManualMappingCuration	2014-10-20
DOID:9001202	Aryl Hydrocarbon Hydroxylase Inducibility	skos:exactMatch	MIM:108340	ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY	semapv:ManualMappingCuration	
DOID:9001203	Turnpenny-Fry Syndrome	skos:exactMatch	MIM:618371	Turnpenny-Fry syndrome	semapv:ManualMappingCuration	2019-03-29
DOID:9001206	CoQ-Responsive OXPHOS Deficiency	skos:exactMatch	MIM:608158	CoQ-RESPONSIVE OXPHOS DEFICIENCY	semapv:ManualMappingCuration	
DOID:9001209	Cohen-Gibson Syndrome	skos:exactMatch	MIM:617561	Cohen-Gibson syndrome	semapv:ManualMappingCuration	2017-08-08
DOID:9001210	Osteoarthritis with Mild Chondrodysplasia	skos:exactMatch	MIM:604864	Osteoarthritis with mild chondrodysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:9001213	BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT	skos:exactMatch	MIM:191800	Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT	semapv:ManualMappingCuration	2020-02-11
DOID:9001215	Sick Sinus Syndrome 3	skos:exactMatch	MIM:614090	{Sick sinus syndrome 3}	semapv:ManualMappingCuration	2019-03-27
DOID:9001221	Thrombocytopenia Paris-Trousseau Type	skos:exactMatch	MIM:188025	?Thrombocytopenia, Paris-Trousseau type	semapv:ManualMappingCuration	2017-10-03
DOID:9001222	Renal-Hepatic-Pancreatic Dysplasia 2	skos:exactMatch	MIM:615415	Renal-hepatic-pancreatic dysplasia 2	semapv:ManualMappingCuration	2014-09-09
DOID:9001225	Sclerotylosis	skos:exactMatch	MIM:181600	Huriez syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9001231	Sessile Serrated Polyposis Cancer Syndrome	skos:exactMatch	MIM:617108	Sessile serrated polyposis cancer syndrome	semapv:ManualMappingCuration	2016-10-18
DOID:9001232	Pili Annulati	skos:exactMatch	MIM:180600	RINGED HAIR	semapv:ManualMappingCuration	
DOID:9001237	Malignant Atrophic Papulosis	skos:exactMatch	MIM:602248	MALIGNANT ATROPHIC PAPULOSIS	semapv:ManualMappingCuration	
DOID:9001243	Pulmonary Arteriovenous Fistulas	skos:exactMatch	MIM:265140	PULMONARY ARTERIOVENOUS FISTULAS	semapv:ManualMappingCuration	
DOID:9001244	Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1	skos:exactMatch	MIM:620138	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	semapv:ManualMappingCuration	2022-12-05
DOID:9001245	Junctional Epidermolysis Bullosa 2A, Intermediate	skos:exactMatch	MIM:619783	Epidermolysis bullosa, junctional 2A, intermediate	semapv:ManualMappingCuration	2022-06-07
DOID:9001247	Galloway-Mowat Syndrome 9	skos:exactMatch	MIM:619603	Galloway-Mowat syndrome 9	semapv:ManualMappingCuration	2021-11-10
DOID:9001248	Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency	skos:exactMatch	MIM:615425	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:9001250	Transient Neonatal Diabetes Mellitus, 3	skos:exactMatch	MIM:610582	Diabetes mellitus, transient neonatal 3	semapv:ManualMappingCuration	2017-10-03
DOID:9001254	Epidermolysis Bullosa Simplex 5D with Nail Dystrophy	skos:exactMatch	MIM:616487	?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive	semapv:ManualMappingCuration	2017-03-07
DOID:9001255	Kabuki Syndrome 1	skos:exactMatch	MIM:147920	Kabuki syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9001256	Nabais Sa-de Vries Syndrome, Type 1	skos:exactMatch	MIM:618828	Nabais Sa-de Vries syndrome, type 1	semapv:ManualMappingCuration	2020-05-15
DOID:9001259	Blepharophimosis with Ptosis, Syndactyly, and Short Stature	skos:exactMatch	MIM:210745	BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE	semapv:ManualMappingCuration	
DOID:9001260	CHITAYAT SYNDROME	skos:exactMatch	MIM:617180	Chitayat syndrome	semapv:ManualMappingCuration	2017-02-27
DOID:9001265	Aneurysm of Interventricular Septum	skos:exactMatch	MIM:105805	ANEURYSM OF INTERVENTRICULAR SEPTUM	semapv:ManualMappingCuration	
DOID:9001267	Junctional Epidermolysis Bullosa 3A, Intermediate	skos:exactMatch	MIM:619785	Epidermolysis bullosa, junctional 3A, intermediate	semapv:ManualMappingCuration	2022-06-07
DOID:9001269	Double Inguinal Hernia	skos:exactMatch	MIM:142350	HERNIA, DOUBLE INGUINAL	semapv:ManualMappingCuration	
DOID:9001270	Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet	skos:exactMatch	MIM:129540	ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND PREAXIAL POLYDACTYLY OF FEET	semapv:ManualMappingCuration	
DOID:9001271	Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth	skos:exactMatch	MIM:243185	INTESTINAL PSEUDOOBSTRUCTION WITH PATENT DUCTUS ARTERIOSUS AND NATAL TEETH	semapv:ManualMappingCuration	
DOID:9001273	Efavirenz, Poor Metabolism of	skos:exactMatch	MIM:614546	{Efavirenz central nervous system toxicity, susceptibility to}	semapv:ManualMappingCuration	2017-10-10
DOID:9001274	Diabetes Mellitus, Congenital Autoimmune	skos:exactMatch	MIM:605026	DIABETES MELLITUS, CONGENITAL AUTOIMMUNE	semapv:ManualMappingCuration	
DOID:9001275	Familial Atrial Fibrillation 7	skos:exactMatch	MIM:612240	Atrial fibrillation, familial, 7	semapv:ManualMappingCuration	2017-10-03
DOID:9001282	Cerebral Cavernous Malformation 4	skos:exactMatch	MIM:619538	Cerebral cavernous malformations 4, somatic	semapv:ManualMappingCuration	2021-10-15
DOID:9001283	RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT	skos:exactMatch	MIM:616722	Retinal dystrophy and iris coloboma with or without cataract	semapv:ManualMappingCuration	2016-01-14
DOID:9001286	Congenital Contractures, Torticollis, and Malignant Hyperthermia	skos:exactMatch	MIM:217150	CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA	semapv:ManualMappingCuration	
DOID:9001288	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES	skos:exactMatch	MIM:619503	Neurodevelopmental disorder with hypotonia and dysmorphic facies	semapv:ManualMappingCuration	2021-10-21
DOID:9001289	Trehalase Deficiency	skos:exactMatch	MIM:612119	Trehalase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9001290	Prolactin Deficiency with Obesity and Enlarged Testes	skos:exactMatch	MIM:264120	PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES	semapv:ManualMappingCuration	
DOID:9001294	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES	skos:exactMatch	MIM:620073	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	semapv:ManualMappingCuration	2022-12-13
DOID:9001300	Alternating Hemiplegia of Childhood 2	skos:exactMatch	MIM:614820	Alternating hemiplegia of childhood 2	semapv:ManualMappingCuration	2014-09-02
DOID:9001303	Hydroa Vacciniforme, Familial	skos:exactMatch	MIM:603794	HYDROA VACCINIFORME, FAMILIAL	semapv:ManualMappingCuration	
DOID:9001304	Immunodeficiency 85	skos:exactMatch	MIM:619510	?Immunodeficiency 85 and autoimmunity	semapv:ManualMappingCuration	2021-09-03
DOID:9001305	Neuroblastoma 2	skos:exactMatch	MIM:613013	Neuroblastoma with Hirschsprung disease	semapv:ManualMappingCuration	2017-10-03
DOID:9001306	Gillessen-Kaesbach-Nishimura Dysplasia	skos:exactMatch	MIM:263210	Gillessen-Kaesbach-Nishimura syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:9001309	Ichthyosis Prematurity Syndrome	skos:exactMatch	MIM:608649	Ichthyosis prematurity syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9001312	Tardive Dyskinesia	skos:exactMatch	MIM:272620	TARDIVE DYSKINESIA	semapv:ManualMappingCuration	
DOID:9001314	Systemic Lupus Erythematosus 17	skos:exactMatch	MIM:301080	Systemic lupus erythematosus 17	semapv:ManualMappingCuration	2022-05-11
DOID:9001315	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY	skos:exactMatch	MIM:619616	Neurodevelopmental disorder with hearing loss and spasticity	semapv:ManualMappingCuration	2022-02-10
DOID:9001318	Nasal Alar Collapse, Bilateral	skos:exactMatch	MIM:161470	NASAL ALAR COLLAPSE, BILATERAL	semapv:ManualMappingCuration	
DOID:9001319	Branchial Arch Syndrome X-Linked	skos:exactMatch	MIM:301950	BRANCHIAL ARCH SYNDROME, X-LINKED	semapv:ManualMappingCuration	2022-11-14
DOID:9001320	Corneal Dystrophy, Fuchs Endothelial, 7	skos:exactMatch	MIM:613271	Corneal dystrophy, Fuchs endothelial, 7	semapv:ManualMappingCuration	2017-10-03
DOID:9001322	Sclerocornea, Autosomal Dominant	skos:exactMatch	MIM:181700	SCLEROCORNEA, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2018-08-22
DOID:9001328	Familial Gigantiform Cementoma	skos:exactMatch	MIM:137575	GIGANTIFORM CEMENTOMA, FAMILIAL	semapv:ManualMappingCuration	
DOID:9001333	Hypokalemic Periodic Paralysis, Type 2	skos:exactMatch	MIM:613345	Hypokalemic periodic paralysis, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:9001334	Huntington's Disease-Like 3	skos:exactMatch	MIM:604802	Huntington disease-like 3	semapv:ManualMappingCuration	2017-10-03
DOID:9001337	Childhood-Onset Spasticity with Hyperglycinemia	skos:exactMatch	MIM:616859	Spasticity, childhood-onset, with hyperglycinemia	semapv:ManualMappingCuration	2016-04-14
DOID:9001340	Mesomelia-Synostoses Syndrome	skos:exactMatch	MIM:600383	Mesomelia-synostoses syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9001343	Infantile Hypotonia with Psychomotor Retardation	skos:exactMatch	MIM:616816	Hypotonia, infantile, with psychomotor retardation	semapv:ManualMappingCuration	2016-03-10
DOID:9001344	Pigmented Purpuric Eruption	skos:exactMatch	MIM:172900	PIGMENTED PURPURIC ERUPTION	semapv:ManualMappingCuration	
DOID:9001345	Okur-Chung Neurodevelopmental Syndrome	skos:exactMatch	MIM:617062	Okur-Chung neurodevelopmental syndrome	semapv:ManualMappingCuration	2016-09-12
DOID:9001346	Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis	skos:exactMatch	MIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	semapv:ManualMappingCuration	2014-09-09
DOID:9001350	Aicardi-Goutieres Syndrome 1	skos:exactMatch	MIM:225750	Aicardi-Goutieres syndrome 1, dominant and recessive	semapv:ManualMappingCuration	2018-07-23
DOID:9001354	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY	skos:exactMatch	MIM:619090	Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	semapv:ManualMappingCuration	2021-02-12
DOID:9001356	Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay	skos:exactMatch	MIM:601347	MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY	semapv:ManualMappingCuration	
DOID:9001360	Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal	skos:exactMatch	MIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal	semapv:ManualMappingCuration	2017-10-03
DOID:9001367	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES	skos:exactMatch	MIM:618707	Neurodevelopmental disorder with absent language and variable seizures	semapv:ManualMappingCuration	2022-03-22
DOID:9001368	Uncombable Hair Syndrome 2	skos:exactMatch	MIM:617251	?Uncombable hair syndrome 2	semapv:ManualMappingCuration	2017-07-12
DOID:9001369	Multiple Epiphyseal Dysplasia with Robin Phenotype	skos:exactMatch	MIM:601560	MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE	semapv:ManualMappingCuration	
DOID:9001372	Immunodeficiency 114	skos:exactMatch	MIM:620603	Immunodeficiency 114, folate-responsive	semapv:ManualMappingCuration	2023-12-04
DOID:9001373	Sonoda Syndrome	skos:exactMatch	MIM:270460	SONODA SYNDROME	semapv:ManualMappingCuration	2022-11-29
DOID:9001377	Bridged Sella Turcica	skos:exactMatch	MIM:182200	SELLA TURCICA, BRIDGED	semapv:ManualMappingCuration	2022-11-14
DOID:9001378	Nuclear Type Mitochondrial Complex I Deficiency 36	skos:exactMatch	MIM:619170	Mitochondrial complex I deficiency, nuclear type 36	semapv:ManualMappingCuration	2021-02-01
DOID:9001380	Absent Eyebrows and Eyelashes with Mental Retardation	skos:exactMatch	MIM:200130	ABSENT EYEBROWS AND EYELASHES WITH IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9001382	Combined Congenital Deficiency of Intrinsic Factor and R Binder	skos:exactMatch	MIM:243320	INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF	semapv:ManualMappingCuration	
DOID:9001383	Atelosteogenesis Type 1	skos:exactMatch	MIM:108720	Atelosteogenesis, type I	semapv:ManualMappingCuration	2017-10-03
DOID:9001385	Complement Factor D Deficiency	skos:exactMatch	MIM:613912	Complement factor D deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:9001388	CHROMOSOME 2p16.3 DELETION SYNDROME	skos:exactMatch	MIM:614332	{Schizophrenia, susceptibility to, 17}	semapv:ManualMappingCuration	2017-04-04
DOID:9001391	Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	skos:exactMatch	MIM:619720	Bryant-Li-Bhoj neurodevelopmental syndrome 1	semapv:ManualMappingCuration	2022-02-10
DOID:9001392	Herpes Simplex Encephalitis 3	skos:exactMatch	MIM:614849	{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}	semapv:ManualMappingCuration	2015-06-08
DOID:9001393	Patternless Dermal Ridges	skos:exactMatch	MIM:125540	DERMAL RIDGES, PATTERNLESS	semapv:ManualMappingCuration	
DOID:9001396	Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis	skos:exactMatch	MIM:605756	OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH SHORT STATURE AND RECURRENT METABOLIC ACIDOSIS	semapv:ManualMappingCuration	
DOID:9001397	5-Hydroxytryptamine Oxygenase Regulator	skos:exactMatch	MIM:143460	5-HYDROXYTRYPTAMINE OXYGENASE REGULATOR	semapv:ManualMappingCuration	2014-06-23
DOID:9001399	Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies	skos:exactMatch	MIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	semapv:ManualMappingCuration	2019-04-16
DOID:9001401	Periventricular Nodular Heterotopia 9	skos:exactMatch	MIM:618918	Periventricular nodular heterotopia 9	semapv:ManualMappingCuration	2020-06-30
DOID:9001402	Acro-Osteolysis	skos:exactMatch	MIM:102400	ACROOSTEOLYSIS	semapv:ManualMappingCuration	
DOID:9001408	Dilated Cardiomyopathy 2J	skos:exactMatch	MIM:620635	Cardiomyopathy, dilated, 2J	semapv:ManualMappingCuration	2023-12-04
DOID:9001412	Glaucoma 1, Open Angle, F	skos:exactMatch	MIM:603383	Glaucoma 1, open angle, F	semapv:ManualMappingCuration	2017-10-03
DOID:9001413	Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness	skos:exactMatch	MIM:264140	PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DEAFNESS	semapv:ManualMappingCuration	
DOID:9001418	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES	skos:exactMatch	MIM:301066	Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies	semapv:ManualMappingCuration	2022-02-08
DOID:9001419	Fructose and Galactose Intolerance	skos:exactMatch	MIM:229500	FRUCTOSE AND GALACTOSE INTOLERANCE	semapv:ManualMappingCuration	
DOID:9001420	Cutaneous Hemangiomatosis with Associated Features	skos:exactMatch	MIM:234800	HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES	semapv:ManualMappingCuration	
DOID:9001422	Radial Heads, Posterior Dislocation Of	skos:exactMatch	MIM:179200	RADIAL HEADS, POSTERIOR DISLOCATION OF	semapv:ManualMappingCuration	
DOID:9001424	Hyperleucine-Isoleucinemia	skos:exactMatch	MIM:238340	HYPERLEUCINE-ISOLEUCINEMIA	semapv:ManualMappingCuration	2022-11-08
DOID:9001432	Oculocutaneous Albinism Type VIII	skos:exactMatch	MIM:619165	Oculocutaneous albinism, type VIII	semapv:ManualMappingCuration	2021-01-29
DOID:9001433	Multiple Eruptive Milia	skos:exactMatch	MIM:157400	MILIA, MULTIPLE ERUPTIVE	semapv:ManualMappingCuration	
DOID:9001434	Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome	skos:exactMatch	MIM:619428	Focal segmental glomerulosclerosis and neurodevelopmental syndrome	semapv:ManualMappingCuration	2021-08-06
DOID:9001436	Immunodeficiency 68	skos:exactMatch	MIM:612260	Immunodeficiency 68	semapv:ManualMappingCuration	2017-10-03
DOID:9001437	Aplasia or Hypoplasia of Breasts and/or Nipples 2	skos:exactMatch	MIM:616001	?Breasts and/or nipples, aplasia or hypoplasia of, 2	semapv:ManualMappingCuration	2017-02-24
DOID:9001438	Pseudoatrophoderma Colli	skos:exactMatch	MIM:177350	PSEUDOATROPHODERMA COLLI	semapv:ManualMappingCuration	
DOID:9001440	Oculopharyngeal Myopathy with Leukoencephalopathy 1	skos:exactMatch	MIM:618637	?Oculopharyngeal myopathy with leukoencephalopathy 1	semapv:ManualMappingCuration	2020-11-23
DOID:9001444	Moyamoya Disease 5	skos:exactMatch	MIM:614042	Moyamoya disease 5	semapv:ManualMappingCuration	2014-09-09
DOID:9001445	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features	skos:exactMatch	MIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features	semapv:ManualMappingCuration	2016-02-09
DOID:9001447	Spondyloepimetaphyseal Dysplasia with Hypotrichosis	skos:exactMatch	MIM:183849	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS	semapv:ManualMappingCuration	
DOID:9001449	Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction	skos:exactMatch	MIM:619482	?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction	semapv:ManualMappingCuration	2021-10-15
DOID:9001450	Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy	skos:exactMatch	MIM:239840	HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY	semapv:ManualMappingCuration	
DOID:9001451	Acrodysostosis 1, with or without Hormone Resistance	skos:exactMatch	MIM:101800	Acrodysostosis 1, with or without hormone resistance	semapv:ManualMappingCuration	2014-09-02
DOID:9001457	Dyssegmental Dysplasia, Rolland-Desbuquois Type	skos:exactMatch	MIM:224400	DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE	semapv:ManualMappingCuration	
DOID:9001459	Mental Retardation Associated with Psoriasis	skos:exactMatch	MIM:309480	IMPAIRED INTELLECTUAL DEVELOPMENT AND PSORIASIS	semapv:ManualMappingCuration	
DOID:9001463	Shaheen Syndrome	skos:exactMatch	MIM:615328	Shaheen syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9001464	Weill-Marchesani Syndrome 2	skos:exactMatch	MIM:608328	Weill-Marchesani syndrome 2, dominant	semapv:ManualMappingCuration	2018-08-20
DOID:9001469	Acrogeria, Gottron Type	skos:exactMatch	MIM:201200	ACROGERIA, GOTTRON TYPE	semapv:ManualMappingCuration	
DOID:9001471	Anorectal Malformations	skos:exactMatch	MIM:107100	ANORECTAL ANOMALIES	semapv:ManualMappingCuration	2022-11-14
DOID:9001474	Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements	skos:exactMatch	MIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	semapv:ManualMappingCuration	2019-09-16
DOID:9001475	Gastrocutaneous Syndrome	skos:exactMatch	MIM:137270	GASTROCUTANEOUS SYNDROME	semapv:ManualMappingCuration	
DOID:9001476	Yuan-Harel-Lupski Syndrome	skos:exactMatch	MIM:616652	Yuan-Harel-Lupski syndrome	semapv:ManualMappingCuration	2023-02-27
DOID:9001477	Khalifa Graham Syndrome	skos:exactMatch	MIM:600159	PTERYGIUM COLLI AND IMPAIRED INTELLECTUAL DEVELOPMENT WITH FACIAL AND DIGITAL ANOMALIES	semapv:ManualMappingCuration	2022-11-29
DOID:9001481	Charcot-Marie-Tooth Disease Axonal Type 2FF	skos:exactMatch	MIM:619519	Charcot-Marie-Tooth disease, axonal, type 2FF	semapv:ManualMappingCuration	2021-09-20
DOID:9001486	Radio-Renal Syndrome	skos:exactMatch	MIM:179280	RADIAL-RENAL SYNDROME	semapv:ManualMappingCuration	2022-11-29
DOID:9001488	Human Influenza	skos:exactMatch	MIM:614680	{Influenza, severe, susceptibility to}	semapv:ManualMappingCuration	2017-10-10
DOID:9001489	Rudiger Syndrome	skos:exactMatch	MIM:268650	RUDIGER SYNDROME	semapv:ManualMappingCuration	
DOID:9001490	Fallot Complex with Severe Mental and Growth Retardation	skos:exactMatch	MIM:601127	FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION	semapv:ManualMappingCuration	
DOID:9001492	Lowry Maclean syndrome	skos:exactMatch	MIM:600252	LOWRY-MACLEAN SYNDROME	semapv:ManualMappingCuration	
DOID:9001493	Alpha-Fetoprotein Deficiency	skos:exactMatch	MIM:615969	Alpha-fetoprotein deficiency	semapv:ManualMappingCuration	2017-10-10
DOID:9001500	Sd(a) POLYAGGLUTINATION SYNDROME	skos:exactMatch	MIM:615018	Sd(a) polyagglutination syndrome	semapv:ManualMappingCuration	2022-02-03
DOID:9001501	Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal	skos:exactMatch	MIM:608836	CPT II deficiency, lethal neonatal	semapv:ManualMappingCuration	2017-10-03
DOID:9001503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION	skos:exactMatch	MIM:618797	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	semapv:ManualMappingCuration	2022-02-11
DOID:9001504	Transient Erythroblastopenia of Childhood	skos:exactMatch	MIM:227050	Transient erythroblastopenia of childhood	semapv:ManualMappingCuration	2017-10-03
DOID:9001506	Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas	skos:exactMatch	MIM:603643	SITUS INVERSUS TOTALIS WITH CYSTIC DYSPLASIA OF KIDNEYS AND PANCREAS	semapv:ManualMappingCuration	
DOID:9001510	Funnel Chest	skos:exactMatch	MIM:169300	PECTUS EXCAVATUM	semapv:ManualMappingCuration	
DOID:9001511	Pili Torti	skos:exactMatch	MIM:261900	PILI TORTI, EARLY-ONSET	semapv:ManualMappingCuration	2022-12-05
DOID:9001514	Hypophosphatemic Rickets, Autosomal Recessive, 1	skos:exactMatch	MIM:241520	Hypophosphatemic rickets, AR	semapv:ManualMappingCuration	2017-10-03
DOID:9001515	Angioma Serpiginosum, Autosomal Dominant	skos:exactMatch	MIM:106050	ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2018-08-22
DOID:9001516	Familial Thoracic Aortic Aneurysm 6	skos:exactMatch	MIM:611788	Aortic aneurysm, familial thoracic 6	semapv:ManualMappingCuration	2017-10-03
DOID:9001517	Kapur Toriello Syndrome	skos:exactMatch	MIM:244300	KAPUR-TORIELLO SYNDROME	semapv:ManualMappingCuration	2022-11-14
DOID:9001518	Dibasic Amino Aciduria I	skos:exactMatch	MIM:222690	DIBASIC AMINO ACIDURIA I	semapv:ManualMappingCuration	2022-11-08
DOID:9001520	Symmetric Acroleukopathy	skos:exactMatch	MIM:102000	ACROLEUKOPATHY, SYMMETRIC	semapv:ManualMappingCuration	
DOID:9001523	Familial Multiple Coagulation Factor Deficiency IV	skos:exactMatch	MIM:134430	FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF	semapv:ManualMappingCuration	
DOID:9001524	Kyphomelic Dysplasia	skos:exactMatch	MIM:211350	KYPHOMELIC DYSPLASIA	semapv:ManualMappingCuration	
DOID:9001525	Congenital Heart Defects, Multiple Types, 7	skos:exactMatch	MIM:618780	Congenital heart defects, multiple types, 7	semapv:ManualMappingCuration	2020-02-18
DOID:9001526	X-Linked Scapuloperoneal Muscular Dystrophy	skos:exactMatch	MIM:300695	Scapuloperoneal myopathy, X-linked dominant	semapv:ManualMappingCuration	2017-10-03
DOID:9001527	Congenital Hypomyelinating Neuropathy	skos:exactMatch	MIM:PS605253	Hypomyelinating neuropathy, congenital, 1	semapv:ManualMappingCuration	2020-10-09
DOID:9001529	Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance	skos:exactMatch	MIM:612947	MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUAL APPEARANCE	semapv:ManualMappingCuration	
DOID:9001530	Succinyl-CoA:3-oxoacid CoA transferase deficiency	skos:exactMatch	MIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9001532	Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma	skos:exactMatch	MIM:107550	AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA	semapv:ManualMappingCuration	
DOID:9001536	Pseudo-TORCH Syndrome 2	skos:exactMatch	MIM:617397	Pseudo-TORCH syndrome 2	semapv:ManualMappingCuration	2017-06-21
DOID:9001538	Lethal Congenital Contracture Syndrome 9	skos:exactMatch	MIM:616503	Lethal congenital contracture syndrome 9	semapv:ManualMappingCuration	2017-05-01
DOID:9001539	Stickler Syndrome, Type IV	skos:exactMatch	MIM:614134	Stickler syndrome, type IV	semapv:ManualMappingCuration	2014-09-02
DOID:9001540	Snijders Blok-Campeau Syndrome	skos:exactMatch	MIM:618205	Snijders Blok-Campeau syndrome	semapv:ManualMappingCuration	2019-03-28
DOID:9001541	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2	skos:exactMatch	MIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	semapv:ManualMappingCuration	2019-02-13
DOID:9001543	Combined Oxidative Phosphorylation Deficiency 58	skos:exactMatch	MIM:620451	Combined oxidative phosphorylation deficiency 58	semapv:ManualMappingCuration	2023-07-28
DOID:9001545	Flood Factor Deficiency	skos:exactMatch	MIM:136150	FLOOD FACTOR DEFICIENCY	semapv:ManualMappingCuration	
DOID:9001546	Moyamoya Disease 3	skos:exactMatch	MIM:608796	Moyamoya disease 3	semapv:ManualMappingCuration	2017-10-03
DOID:9001548	Pseudohypoaldosteronism, Type IID	skos:exactMatch	MIM:614495	Pseudohypoaldosteronism, type IID	semapv:ManualMappingCuration	2014-09-09
DOID:9001549	Aniridia 3	skos:exactMatch	MIM:617142	?Aniridia 3	semapv:ManualMappingCuration	2017-02-14
DOID:9001550	Bethlem Myopathy 1A	skos:exactMatch	MIM:158810	Bethlem myopathy 1A	semapv:ManualMappingCuration	2017-10-03
DOID:9001555	Postaxial Polydactyly, Type A3	skos:exactMatch	MIM:607324	Polydactyly, postaxial, type A3	semapv:ManualMappingCuration	2017-10-03
DOID:9001556	Neonatal Inflammatory Skin and Bowel Disease 1	skos:exactMatch	MIM:614328	?Inflammatory skin and bowel disease, neonatal, 1	semapv:ManualMappingCuration	2017-04-28
DOID:9001560	Somatic Sebaceous Tumors	skos:exactMatch	MIM:153245	null	semapv:ManualMappingCuration	
DOID:9001561	Pseudovaginal Perineoscrotal Hypospadias	skos:exactMatch	MIM:264600	Pseudovaginal perineoscrotal hypospadias	semapv:ManualMappingCuration	2017-10-03
DOID:9001563	Monocyte Chemotactic Disorder	skos:exactMatch	MIM:252250	MONOCYTE CHEMOTACTIC DISORDER	semapv:ManualMappingCuration	
DOID:9001565	Unilateral Adactylia	skos:exactMatch	MIM:102650	ADACTYLIA, UNILATERAL	semapv:ManualMappingCuration	2022-11-29
DOID:9001566	Atrophia Maculosa Varioliformis Cutis, Familial	skos:exactMatch	MIM:601341	ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL	semapv:ManualMappingCuration	2022-11-21
DOID:9001568	Familial Antiphospholipid Syndrome	skos:exactMatch	MIM:107320	?Antiphospholipid syndrome, familial	semapv:ManualMappingCuration	2017-10-03
DOID:9001570	Epidermodysplasia Verruciformis 4	skos:exactMatch	MIM:618307	{?Epidermodysplasia verruciformis, susceptibility to, 4}	semapv:ManualMappingCuration	2019-02-13
DOID:9001572	Hairy Palms and Soles	skos:exactMatch	MIM:139650	HAIRY PALMS AND SOLES	semapv:ManualMappingCuration	
DOID:9001576	CARDIAC VALVULAR DYSPLASIA 2	skos:exactMatch	MIM:620067	Cardiac valvular dysplasia 2	semapv:ManualMappingCuration	2022-12-05
DOID:9001577	Infantile Hypertrophic Pyloric Stenosis 2	skos:exactMatch	MIM:610260	Pyloric stenosis, infantile hypertrophic, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9001580	Cyclic Vomiting Syndrome	skos:exactMatch	MIM:500007	CYCLIC VOMITING SYNDROME	semapv:ManualMappingCuration	
DOID:9001582	Bohring Syndrome	skos:exactMatch	MIM:605039	Bohring-Opitz syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9001584	Cerebral Sarcoma	skos:exactMatch	MIM:117600	CEREBRAL SARCOMA	semapv:ManualMappingCuration	
DOID:9001587	Bone Marrow Failure Syndrome 1	skos:exactMatch	MIM:614675	Bone marrow failure syndrome 1	semapv:ManualMappingCuration	2014-09-02
DOID:9001589	Feingold Syndrome 2	skos:exactMatch	MIM:614326	Feingold syndrome 2	semapv:ManualMappingCuration	2015-02-11
DOID:9001595	Lethal Congenital Contracture Syndrome 6	skos:exactMatch	MIM:616248	?Lethal congenital contracture syndrome 6	semapv:ManualMappingCuration	2017-05-01
DOID:9001596	Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development	skos:exactMatch	MIM:618265	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	semapv:ManualMappingCuration	2019-02-13
DOID:9001599	Oocyte/Zygote/Embryo Maturation Arrest 6	skos:exactMatch	MIM:618353	Oocyte/zygote/embryo maturation arrest 6	semapv:ManualMappingCuration	2019-03-12
DOID:9001603	Hypertriglyceridemia, Transient Infantile	skos:exactMatch	MIM:614480	Hypertriglyceridemia, transient infantile	semapv:ManualMappingCuration	2014-09-09
DOID:9001605	Postaxial Polydactyly, Type A2	skos:exactMatch	MIM:602085	Postaxial polydactyly, type A2	semapv:ManualMappingCuration	2017-10-03
DOID:9001609	Myopathy due to Malate-Aspartate Shuttle Defect	skos:exactMatch	MIM:254960	MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT	semapv:ManualMappingCuration	
DOID:9001610	Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome	skos:exactMatch	MIM:617241	Lung disease, immunodeficiency, and chromosome breakage syndrome	semapv:ManualMappingCuration	2017-05-03
DOID:9001611	Urogenital Abnormalities	skos:exactMatch	MIM:305690	GENITOURINARY TRACT ANOMALIES	semapv:ManualMappingCuration	2022-12-06
DOID:9001614	Chronic Tubulointerstitial Nephropathy	skos:exactMatch	MIM:551200	NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL	semapv:ManualMappingCuration	
DOID:9001619	Congenital Deafness with Total Albinism	skos:exactMatch	MIM:220900	DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM	semapv:ManualMappingCuration	2020-07-27
DOID:9001621	Focal Segmental Glomerulosclerosis 4	skos:exactMatch	MIM:612551	{Glomerulosclerosis, focal segmental, 4, susceptibility to}	semapv:ManualMappingCuration	2017-07-26
DOID:9001623	JOINT LAXITY, SHORT STATURE, AND MYOPIA	skos:exactMatch	MIM:617662	Joint laxity, short stature, and myopia	semapv:ManualMappingCuration	2017-12-04
DOID:9001628	Bilateral Atresia of External Auditory Canal with Congenital Vertical Talus	skos:exactMatch	MIM:108760	ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTIVE DEAFNESS	semapv:ManualMappingCuration	
DOID:9001631	Hypochromic Microcytic Anemia with Iron Overload	skos:exactMatch	MIM:PS206100	Anemia, hypochromic microcytic, with iron overload 1	semapv:ManualMappingCuration	2019-03-21
DOID:9001633	Chromosome 4, Trisomy 4q32.1-q32.2	skos:exactMatch	MIM:613603	Chromosome 4q32.1-q32.2 triplication syndrome	semapv:ManualMappingCuration	2022-12-12
DOID:9001634	Meckel Syndrome 9	skos:exactMatch	MIM:614209	?Meckel syndrome 9	semapv:ManualMappingCuration	2014-09-09
DOID:9001635	Immunodeficiency 93	skos:exactMatch	MIM:619705	Immunodeficiency 93 and hypertrophic cardiomyopathy	semapv:ManualMappingCuration	2022-01-27
DOID:9001637	Malignant Neurogenic Muscular Atrophy	skos:exactMatch	MIM:158650	MUSCULAR ATROPHY, MALIGNANT NEUROGENIC	semapv:ManualMappingCuration	
DOID:9001638	Seborrhea-Like Dermatitis with Psoriasiform Elements	skos:exactMatch	MIM:610227	?Seborrhea-like dermatitis with psoriasiform elements	semapv:ManualMappingCuration	2017-10-03
DOID:9001641	Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair	skos:exactMatch	MIM:164680	ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR	semapv:ManualMappingCuration	
DOID:9001643	CD59 Deficiency	skos:exactMatch	MIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	semapv:ManualMappingCuration	2017-10-03
DOID:9001644	Familial Acne Inversa 2	skos:exactMatch	MIM:613736	Acne inversa, familial, 2, with or without Dowling-Degos disease	semapv:ManualMappingCuration	2017-10-03
DOID:9001645	Coronaviridae Infections	skos:exactMatch	MIM:122460	{Human coronavirus sensitivity}	semapv:ManualMappingCuration	2017-10-03
DOID:9001646	Specific Language Impairment 3	skos:exactMatch	MIM:607134	Specific language impairment QTL, 3	semapv:ManualMappingCuration	2014-06-23
DOID:9001647	HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS	skos:exactMatch	MIM:614187	Hypertelorism, preauricular sinus, punctal pits, and deafness	semapv:ManualMappingCuration	2014-06-23
DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency	skos:exactMatch	MIM:236250	Homocystinuria due to MTHFR deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9001649	Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development	skos:exactMatch	MIM:618339	?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	semapv:ManualMappingCuration	2019-02-26
DOID:9001652	Calcium Oxalate Nephrolithiasis 1	skos:exactMatch	MIM:167030	?Nephrolithiasis, calcium oxalate, 1	semapv:ManualMappingCuration	2023-05-30
DOID:9001654	Colonic Atresia	skos:exactMatch	MIM:303650	COLONIC ATRESIA	semapv:ManualMappingCuration	2022-12-06
DOID:9001660	Digeorge Syndrome/Velocardiofacial Syndrome Complex 2	skos:exactMatch	MIM:601362	DiGeorge syndrome/velocardiofacial syndrome complex-2	semapv:ManualMappingCuration	2017-10-03
DOID:9001663	Twinning due to Superfetation	skos:exactMatch	MIM:191250	TWINNING DUE TO SUPERFETATION	semapv:ManualMappingCuration	
DOID:9001664	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME	skos:exactMatch	MIM:619318	Oculogastrointestinal neurodevelopmental syndrome	semapv:ManualMappingCuration	2021-06-18
DOID:9001668	Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2	skos:exactMatch	MIM:617542	Gaze palsy, familial horizontal, with progressive scoliosis, 2	semapv:ManualMappingCuration	2017-08-08
DOID:9001670	Rajab Interstitial Lung Disease with Brain Calcifications 2	skos:exactMatch	MIM:619013	?Rajab interstitial lung disease with brain calcifications 2	semapv:ManualMappingCuration	2020-09-09
DOID:9001674	Hereditary Thermosensitive Neuropathy	skos:exactMatch	MIM:602107	NEUROPATHY, HEREDITARY THERMOSENSITIVE	semapv:ManualMappingCuration	
DOID:9001676	Myopia 9	skos:exactMatch	MIM:609258	Myopia 9	semapv:ManualMappingCuration	2017-10-03
DOID:9001678	Periventricular Nodular Heterotopia 7	skos:exactMatch	MIM:617201	Periventricular nodular heterotopia 7	semapv:ManualMappingCuration	2016-12-06
DOID:9001680	SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS	skos:exactMatch	MIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	semapv:ManualMappingCuration	2014-06-23
DOID:9001681	Primrose Syndrome	skos:exactMatch	MIM:259050	Primrose syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:9001685	Isolated Microphthalmia with Coloboma 6	skos:exactMatch	MIM:613703	Microphthalmia with coloboma 6, digenic	semapv:ManualMappingCuration	2014-06-23
DOID:9001690	Primary Autosomal Recessive Microcephaly 30	skos:exactMatch	MIM:620183	Microcephaly 30, primary, autosomal recessive	semapv:ManualMappingCuration	2023-01-04
DOID:9001691	Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency	skos:exactMatch	MIM:608406	VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND GROWTH DEFICIENCY	semapv:ManualMappingCuration	
DOID:9001692	Primary Ciliary Dyskinesia 46	skos:exactMatch	MIM:619436	?Ciliary dyskinesia, primary, 46	semapv:ManualMappingCuration	2021-07-16
DOID:9001693	Senior-Loken Syndrome 9	skos:exactMatch	MIM:616629	Senior-Loken syndrome 9	semapv:ManualMappingCuration	2017-04-04
DOID:9001694	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES	skos:exactMatch	MIM:618709	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	semapv:ManualMappingCuration	2020-01-14
DOID:9001697	Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies	skos:exactMatch	MIM:602196	PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES	semapv:ManualMappingCuration	2022-12-06
DOID:9001700	Thoracolaryngopelvic Dysplasia	skos:exactMatch	MIM:187760	THORACOLARYNGOPELVIC DYSPLASIA	semapv:ManualMappingCuration	
DOID:9001701	Pellagra like Syndrome	skos:exactMatch	MIM:260650	PELLAGRA-LIKE SYNDROME	semapv:ManualMappingCuration	
DOID:9001702	Tucker Syndrome	skos:exactMatch	MIM:193240	VOCAL CORD PARALYSIS AND PTOSIS	semapv:ManualMappingCuration	
DOID:9001703	Autosomal Recessive Congenital Ichthyosis 12	skos:exactMatch	MIM:617320	Ichthyosis, congenital, autosomal recessive 12	semapv:ManualMappingCuration	2017-04-27
DOID:9001704	Pili Torti, Developmental Delay, Neurological Abnormalities	skos:exactMatch	MIM:261990	?Abnormal hair, joint laxity, and developmental delay	semapv:ManualMappingCuration	
DOID:9001712	Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities	skos:exactMatch	MIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	semapv:ManualMappingCuration	2020-08-10
DOID:9001713	Spatial Visualization, Aptitude For	skos:exactMatch	MIM:313000	[Visuospatial/perceptual abilities]	semapv:ManualMappingCuration	2014-06-23
DOID:9001715	3-Hydroxyacyl-CoA Dehydrogenase Deficiency	skos:exactMatch	MIM:231530	3-hydroxyacyl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9001717	Telfer Sugar Jaeger Syndrome	skos:exactMatch	MIM:172850	PIEBALD TRAIT WITH NEUROLOGIC DEFECTS	semapv:ManualMappingCuration	
DOID:9001720	Anhaptoglobinemia	skos:exactMatch	MIM:614081	[Anhaptoglobinemia]	semapv:ManualMappingCuration	2014-10-16
DOID:9001729	Median-Ulnar Nerve Communications	skos:exactMatch	MIM:155150	MEDIAN-ULNAR NERVE COMMUNICATIONS	semapv:ManualMappingCuration	
DOID:9001731	Cluster Headache, Familial	skos:exactMatch	MIM:119915	CLUSTER HEADACHE, FAMILIAL	semapv:ManualMappingCuration	
DOID:9001732	Nephrosialidosis	skos:exactMatch	MIM:256150	NEPHROSIALIDOSIS	semapv:ManualMappingCuration	
DOID:9001736	Neurodevelopmental Disorder with Speech Impairment and with or without Seizures	skos:exactMatch	MIM:620114	Neurodevelopmental disorder with speech impairment and with or without seizures	semapv:ManualMappingCuration	2022-11-21
DOID:9001737	Sideroblastic Anemia 5	skos:exactMatch	MIM:619523	?Anemia, sideroblastic, 5	semapv:ManualMappingCuration	2021-09-20
DOID:9001739	Johnston-Aarons-Schelley Syndrome	skos:exactMatch	MIM:208158	ARTHROGRYPOSIS WITH HYPERKERATOSIS	semapv:ManualMappingCuration	
DOID:9001741	Symphalangism with Multiple Anomalies of Hands and Feet	skos:exactMatch	MIM:185750	SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET	semapv:ManualMappingCuration	
DOID:9001743	Cataract 49	skos:exactMatch	MIM:619593	?Cataract 49	semapv:ManualMappingCuration	2021-11-03
DOID:9001744	Lethal Osteosclerotic Chondrodysplasia, with Intracellular Inclusions	skos:exactMatch	MIM:603393	OSTEOSCLEROTIC CHONDRODYSPLASIA, LETHAL, WITH INTRACELLULAR INCLUSIONS	semapv:ManualMappingCuration	
DOID:9001746	Congenital Disorder of Glycosylation with Defective Fucosylation 2	skos:exactMatch	MIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	semapv:ManualMappingCuration	2019-02-21
DOID:9001748	Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy	skos:exactMatch	MIM:607674	CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY	semapv:ManualMappingCuration	
DOID:9001751	Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans	skos:exactMatch	MIM:610549	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	semapv:ManualMappingCuration	2017-10-03
DOID:9001755	Haspeslagh Fryns Muelenaere Syndrome	skos:exactMatch	MIM:177980	PTERYGIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DISTINCTIVE CRANIOFACIAL FEATURES	semapv:ManualMappingCuration	
DOID:9001759	Ichthyosis Congenita with Biliary Atresia	skos:exactMatch	MIM:242400	ICHTHYOSIS CONGENITA WITH BILIARY ATRESIA	semapv:ManualMappingCuration	
DOID:9001763	Spinal Dysplasia, Anhalt Type	skos:exactMatch	MIM:601344	SPINAL DYSPLASIA, ANHALT TYPE	semapv:ManualMappingCuration	
DOID:9001766	Infantile Hypertrophic Pyloric Stenosis 4	skos:exactMatch	MIM:300711	Pyloric stenosis, infantile hypertrophic, 4	semapv:ManualMappingCuration	2017-10-03
DOID:9001767	Unilateral Hearing Loss	skos:exactMatch	MIM:125000	DEAFNESS, UNILATERAL	semapv:ManualMappingCuration	2022-11-29
DOID:9001768	Photoparoxysmal Response 2	skos:exactMatch	MIM:609572	Photoparoxysmal response 2	semapv:ManualMappingCuration	2014-06-23
DOID:9001770	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME	skos:exactMatch	MIM:619356	Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	semapv:ManualMappingCuration	2021-08-16
DOID:9001772	Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum	skos:exactMatch	MIM:273050	TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM	semapv:ManualMappingCuration	
DOID:9001774	Neural Deafness with Atypical Atopic Dermatitis	skos:exactMatch	MIM:221700	DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS	semapv:ManualMappingCuration	
DOID:9001776	Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type	skos:exactMatch	MIM:600122	VERLOES SYNDROME	semapv:ManualMappingCuration	
DOID:9001781	Wilms Tumor 5	skos:exactMatch	MIM:601583	{Wilms tumor susceptibility-5}	semapv:ManualMappingCuration	2014-06-23
DOID:9001782	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	skos:exactMatch	MIM:613870	?Hirschsprung disease, cardiac defects, and autonomic dysfunction	semapv:ManualMappingCuration	2014-10-20
DOID:9001784	Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	skos:exactMatch	MIM:211370	BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM	semapv:ManualMappingCuration	
DOID:9001786	Immunodeficiency 112	skos:exactMatch	MIM:620449	Immunodeficiency 112	semapv:ManualMappingCuration	2023-07-28
DOID:9001789	Hypomelia Mullerian Duct Anomalies	skos:exactMatch	MIM:146160	HYPOMELIA WITH MULLERIAN DUCT ANOMALIES	semapv:ManualMappingCuration	
DOID:9001794	Cholestasis with Gallstone, Ataxia, and Visual Disturbance	skos:exactMatch	MIM:214980	CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE	semapv:ManualMappingCuration	
DOID:9001798	Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant	skos:exactMatch	MIM:115300	?Hypercarotenemia and vitamin A deficiency, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:9001799	Hereditary Congenital Facial Paresis	skos:exactMatch	MIM:PS601471	Facial paresis, hereditary congenital, 1	semapv:ManualMappingCuration	2019-03-27
DOID:9001800	IMAGAWA-MATSUMOTO SYNDROME	skos:exactMatch	MIM:618786	Imagawa-Matsumoto syndrome	semapv:ManualMappingCuration	2020-03-13
DOID:9001801	Myopia 17, Autosomal Dominant	skos:exactMatch	MIM:608367	Myopia 17	semapv:ManualMappingCuration	2017-03-29
DOID:9001802	Hereditary Hemorrhagic Telangiectasia, Type 4	skos:exactMatch	MIM:610655	Telangiectasia, hereditary hemorrhagic, type 4	semapv:ManualMappingCuration	2017-10-03
DOID:9001804	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES	skos:exactMatch	MIM:619602	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	semapv:ManualMappingCuration	2022-02-04
DOID:9001805	Short-Rib Thoracic Dysplasia 17 with or without Polydactyly	skos:exactMatch	MIM:617405	Short-rib thoracic dysplasia 17 with or without polydactyly	semapv:ManualMappingCuration	2017-06-26
DOID:9001807	Retinoschisis of Fovea	skos:exactMatch	MIM:268080	RETINOSCHISIS OF FOVEA	semapv:ManualMappingCuration	
DOID:9001808	SEDOHEPTULOKINASE DEFICIENCY	skos:exactMatch	MIM:617213	[Sedoheptulokinase deficiency]	semapv:ManualMappingCuration	2017-04-04
DOID:9001813	Alzheimer's Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology	skos:exactMatch	MIM:605055	ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND PRION PATHOLOGY	semapv:ManualMappingCuration	
DOID:9001814	NEUROOCULORENAL SYNDROME	skos:exactMatch	MIM:620305	Neurooculorenal syndrome	semapv:ManualMappingCuration	2023-06-20
DOID:9001815	Hypertrophy of Masticatory Muscles	skos:exactMatch	MIM:154850	MASTICATORY MUSCLES, HYPERTROPHY OF	semapv:ManualMappingCuration	
DOID:9001817	Lopes Gorlin Syndrome	skos:exactMatch	MIM:600269	SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES	semapv:ManualMappingCuration	
DOID:9001818	Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive	skos:exactMatch	MIM:256855	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	
DOID:9001824	Noonan Syndrome 14	skos:exactMatch	MIM:619745	Noonan syndrome 14	semapv:ManualMappingCuration	2022-02-11
DOID:9001826	Congenital Universal Muscular Hypoplasia of Krabbe	skos:exactMatch	MIM:159100	MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE	semapv:ManualMappingCuration	
DOID:9001831	Lichen Sclerosus et Atrophicus	skos:exactMatch	MIM:151590	LICHEN SCLEROSUS ET ATROPHICUS	semapv:ManualMappingCuration	
DOID:9001833	Myopia 23, Autosomal Recessive	skos:exactMatch	MIM:615431	Myopia 23, autosomal recessive	semapv:ManualMappingCuration	2015-07-07
DOID:9001835	Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features	skos:exactMatch	MIM:613124	HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHISM	semapv:ManualMappingCuration	
DOID:9001836	Cardiac Conduction Defect	skos:exactMatch	MIM:115080	CARDIAC CONDUCTION DEFECT	semapv:ManualMappingCuration	2017-10-03
DOID:9001839	Cleidocranial Dysplasia, Recessive Form	skos:exactMatch	MIM:216330	CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM	semapv:ManualMappingCuration	2018-08-22
DOID:9001840	Immunodeficiency 78 with Autoimmunity and Developmental Delay	skos:exactMatch	MIM:619220	Immunodeficiency 78 with autoimmunity and developmental delay	semapv:ManualMappingCuration	2021-03-16
DOID:9001842	Kaler Garrity Stern Syndrome	skos:exactMatch	MIM:259690	OSTEOPENIA AND SPARSE HAIR	semapv:ManualMappingCuration	2017-10-03
DOID:9001843	Selective Tooth Agenesis 8	skos:exactMatch	MIM:617073	Tooth agenesis, selective, 8	semapv:ManualMappingCuration	2017-04-19
DOID:9001845	Hypogonadotropic Hypogonadism 25 with Anosmia	skos:exactMatch	MIM:618841	Hypogonadotropic hypogonadism 25 with anosmia	semapv:ManualMappingCuration	2020-04-08
DOID:9001848	Extensor Tendons of Fingers, Anomalous Insertion of	skos:exactMatch	MIM:187390	TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF	semapv:ManualMappingCuration	
DOID:9001855	Hereditary Prosopagnosia	skos:exactMatch	MIM:610382	PROSOPAGNOSIA, HEREDITARY	semapv:ManualMappingCuration	
DOID:9001858	Lathosterolosis	skos:exactMatch	MIM:607330	Lathosterolosis	semapv:ManualMappingCuration	2017-10-03
DOID:9001861	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:618748	Intellectual developmental disorder with hypotonia and behavioral abnormalities	semapv:ManualMappingCuration	2020-02-13
DOID:9001862	Crigler Najjar Syndrome, Type 2	skos:exactMatch	MIM:606785	Crigler-Najjar syndrome, type II	semapv:ManualMappingCuration	2017-10-03
DOID:9001863	PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES	skos:exactMatch	MIM:262190	Rabson-Mendenhall syndrome	semapv:ManualMappingCuration	2019-09-16
DOID:9001864	Chudley-Rozdilsky Syndrome	skos:exactMatch	MIM:253320	CHUDLEY SYNDROME	semapv:ManualMappingCuration	
DOID:9001868	Short QT Syndrome 3	skos:exactMatch	MIM:609622	Short QT syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:9001869	Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia	skos:exactMatch	MIM:608624	MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA	semapv:ManualMappingCuration	
DOID:9001870	Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay	skos:exactMatch	MIM:619884	Osteoporosis, childhood- or juvenile-onset, with developmental delay	semapv:ManualMappingCuration	2022-05-31
DOID:9001874	Pseudouridinuria and Mental Defect	skos:exactMatch	MIM:264500	PSEUDOURIDINURIA AND MENTAL DEFECT	semapv:ManualMappingCuration	
DOID:9001875	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	skos:exactMatch	MIM:200900	SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY	semapv:ManualMappingCuration	2022-03-25
DOID:9001877	Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly	skos:exactMatch	MIM:133750	EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION AND MICROCEPHALY	semapv:ManualMappingCuration	2022-11-29
DOID:9001879	Androgenetic Alopecia 3	skos:exactMatch	MIM:612421	Alopecia, androgenetic, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9001880	Testicular Microlithiasis	skos:exactMatch	MIM:610441	TESTICULAR MICROLITHIASIS	semapv:ManualMappingCuration	2017-10-03
DOID:9001881	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME	skos:exactMatch	MIM:618805	Triokinase and FMN cyclase deficiency syndrome	semapv:ManualMappingCuration	2021-11-01
DOID:9001885	Nuclear Type Mitochondrial Complex I Deficiency 38	skos:exactMatch	MIM:619382	Leber-like hereditary optic neuropathy, autosomal recessive 1	semapv:ManualMappingCuration	2021-06-23
DOID:9001889	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	skos:exactMatch	MIM:601668	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION	semapv:ManualMappingCuration	2019-10-10
DOID:9001890	Auditory Neuropathy	skos:exactMatch	MIM:PS609129	Auditory neuropathy, autosomal dominant 1	semapv:ManualMappingCuration	
DOID:9001895	Immunoglobulin A Deficiency 2	skos:exactMatch	MIM:609529	Immunoglobulin A deficiency 2	semapv:ManualMappingCuration	2017-10-03
DOID:9001896	Cervical Vertebral Dysplasia	skos:exactMatch	MIM:118005	CERVICAL VERTEBRAL DYSPLASIA	semapv:ManualMappingCuration	
DOID:9001898	Aughton Syndrome	skos:exactMatch	MIM:221950	DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA	semapv:ManualMappingCuration	
DOID:9001899	Triglyceride Storage Disease, Type I	skos:exactMatch	MIM:190420	TRIGLYCERIDE STORAGE DISEASE, TYPE I	semapv:ManualMappingCuration	
DOID:9001900	Arnold-Chiari Malformation	skos:exactMatch	MIM:118420	CHIARI MALFORMATION TYPE I	semapv:ManualMappingCuration	2022-11-29
DOID:9001900	Arnold-Chiari Malformation	skos:exactMatch	MIM:207950	CHIARI MALFORMATION TYPE II	semapv:ManualMappingCuration	
DOID:9001901	Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia	skos:exactMatch	MIM:113610	BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA	semapv:ManualMappingCuration	
DOID:9001905	Hereditary Motor and Sensory Neuropathy, Okinawa Type	skos:exactMatch	MIM:604484	Hereditary motor and sensory neuropathy, Okinawa type	semapv:ManualMappingCuration	2017-10-03
DOID:9001906	Hereditary Hemorrhagic Telangiectasia, Type 5	skos:exactMatch	MIM:615506	Telangiectasia, hereditary hemorrhagic, type 5	semapv:ManualMappingCuration	2014-09-09
DOID:9001907	Spastic Paraplegia, Optic Atrophy, and Dementia	skos:exactMatch	MIM:182830	SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA	semapv:ManualMappingCuration	2022-12-06
DOID:9001909	Diaphragmatic Hernia 4	skos:exactMatch	MIM:620025	Diaphragmatic hernia 4, with cardiovascular defects	semapv:ManualMappingCuration	2022-09-06
DOID:9001910	Progressive Familial Intrahepatic Cholestasis 12	skos:exactMatch	MIM:620010	Cholestasis, progressive familial intrahepatic, 12	semapv:ManualMappingCuration	2022-08-22
DOID:9001911	Craniosynostosis and Dental Anomalies	skos:exactMatch	MIM:614188	Craniosynostosis and dental anomalies	semapv:ManualMappingCuration	2014-09-09
DOID:9001912	Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis	skos:exactMatch	MIM:613075	Macrocephaly, alopecia, cutis laxa, and scoliosis	semapv:ManualMappingCuration	2017-10-03
DOID:9001914	Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa	skos:exactMatch	MIM:610319	RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA	semapv:ManualMappingCuration	
DOID:9001915	Short Stature with Nonspecific Skeletal Abnormalities 1	skos:exactMatch	MIM:616255	Short stature with nonspecific skeletal abnormalities	semapv:ManualMappingCuration	2017-04-06
DOID:9001917	INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA	skos:exactMatch	MIM:618195	Intellectual developmental disorder and retinitis pigmentosa	semapv:ManualMappingCuration	2020-01-09
DOID:9001918	Exostoses of Heel	skos:exactMatch	MIM:133600	EXOSTOSES OF HEEL	semapv:ManualMappingCuration	
DOID:9001920	Microphthalmia/Coloboma 9	skos:exactMatch	MIM:615145	Microphthalmia, syndromic 15	semapv:ManualMappingCuration	2014-09-09
DOID:9001921	AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME	skos:exactMatch	MIM:619858	Autoinflammatory-pancytopenia syndrome	semapv:ManualMappingCuration	2022-06-10
DOID:9001922	Microspherophakia with Hernia	skos:exactMatch	MIM:157150	MICROSPHEROPHAKIA WITH HERNIA	semapv:ManualMappingCuration	2022-12-06
DOID:9001923	Foveal Hypoplasia	skos:exactMatch	MIM:PS136520	Foveal hypoplasia 1	semapv:ManualMappingCuration	2019-09-11
DOID:9001924	RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE	skos:exactMatch	MIM:619598	?Rhizomelic dysplasia, Ain-Naz type	semapv:ManualMappingCuration	2022-02-14
DOID:9001926	Dilated Cardiomyopathy 2I	skos:exactMatch	MIM:620462	Cardiomyopathy, dilated, 2I	semapv:ManualMappingCuration	2023-08-04
DOID:9001927	Dentin Dysplasia with Sclerotic Bones	skos:exactMatch	MIM:125440	DENTIN DYSPLASIA WITH SCLEROTIC BONES	semapv:ManualMappingCuration	
DOID:9001928	osteogenesis imperfecta type 22	skos:exactMatch	MIM:619795	Osteogenesis imperfecta, type XXII	semapv:ManualMappingCuration	2022-03-24
DOID:9001931	Hereditary Pulmonary Emphysema	skos:exactMatch	MIM:130700	EMPHYSEMA, HEREDITARY PULMONARY	semapv:ManualMappingCuration	2017-10-03
DOID:9001937	Congenital Nonspherocytic Hemolytic Anemia 9	skos:exactMatch	MIM:301083	Anemia, congenital, nonspherocytic hemolytic, 9	semapv:ManualMappingCuration	2020-03-02
DOID:9001939	Bartsocas-Papas Syndrome 1	skos:exactMatch	MIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	semapv:ManualMappingCuration	2014-10-20
DOID:9001940	Megalencephalic Leukoencephalopathy with Subcortical Cysts 3	skos:exactMatch	MIM:620447	Megalencephalic leukoencephalopathy with subcortical cysts 3	semapv:ManualMappingCuration	2023-07-25
DOID:9001941	RECON PROGEROID SYNDROME	skos:exactMatch	MIM:620370	RECON progeroid syndrome	semapv:ManualMappingCuration	2023-07-21
DOID:9001942	Rajab Interstitial Lung Disease with Brain Calcifications	skos:exactMatch	MIM:PS613658	Rajab interstitial lung disease with brain calcifications 1	semapv:ManualMappingCuration	2020-09-25
DOID:9001943	Macrosomia Adiposa Congenita	skos:exactMatch	MIM:248100	MACROSOMIA ADIPOSA CONGENITA	semapv:ManualMappingCuration	
DOID:9001944	Histiocytic Dermatoarthritis	skos:exactMatch	MIM:142730	HISTIOCYTIC DERMATOARTHRITIS	semapv:ManualMappingCuration	
DOID:9001945	Childhood Absence Epilepsy 6	skos:exactMatch	MIM:611942	{Epilepsy, childhood absence, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:9001947	Hennekam Lymphangiectasia-Lymphedema Syndrome 2	skos:exactMatch	MIM:616006	Hennekam lymphangiectasia-lymphedema syndrome 2	semapv:ManualMappingCuration	2015-07-01
DOID:9001950	Ribbonlike Corneal Degeneration with Deafness	skos:exactMatch	MIM:121450	CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS	semapv:ManualMappingCuration	
DOID:9001951	Distal Symphalangism	skos:exactMatch	MIM:185700	SYMPHALANGISM, DISTAL	semapv:ManualMappingCuration	
DOID:9001957	Keratosis Palmoplantaris with Periodontopathia and Onychogryposis	skos:exactMatch	MIM:245010	Haim-Munk syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9001958	Immunodeficiency 77	skos:exactMatch	MIM:619223	Immunodeficiency 77	semapv:ManualMappingCuration	2021-03-22
DOID:9001960	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	skos:exactMatch	MIM:608670	ROBIN SEQUENCE WITH DISTINCTIVE FACIAL APPEARANCE AND BRACHYDACTYLY	semapv:ManualMappingCuration	
DOID:9001964	Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant	skos:exactMatch	MIM:165199	OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	
DOID:9001966	GABRIELE-DE VRIES SYNDROME	skos:exactMatch	MIM:617557	Gabriele-de Vries syndrome	semapv:ManualMappingCuration	2017-08-08
DOID:9001967	Ulna Metaphyseal Dysplasia Syndrome	skos:exactMatch	MIM:191420	ULNA METAPHYSEAL DYSPLASIA SYNDROME	semapv:ManualMappingCuration	2022-11-29
DOID:9001969	O'Donnell-Luria-Rodan Syndrome	skos:exactMatch	MIM:618512	O'Donnell-Luria-Rodan syndrome	semapv:ManualMappingCuration	2019-09-16
DOID:9001974	Major Affective Disorder 3	skos:exactMatch	MIM:609633	{Major affective disorder 3, early onset}	semapv:ManualMappingCuration	2017-10-03
DOID:9001976	Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive	skos:exactMatch	MIM:619461	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	semapv:ManualMappingCuration	2021-10-21
DOID:9001979	Amaurosis Hypertrichosis	skos:exactMatch	MIM:204110	AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS	semapv:ManualMappingCuration	
DOID:9001982	Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified	skos:exactMatch	MIM:130090	EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED	semapv:ManualMappingCuration	
DOID:9001983	Harderoporphyria	skos:exactMatch	MIM:618892	Harderoporphyria	semapv:ManualMappingCuration	2020-08-04
DOID:9001986	Familial Dysalbuminemic Hyperthyroxinemia	skos:exactMatch	MIM:615999	?[Dysalbuminemic hypertriiodothyroninemia]	semapv:ManualMappingCuration	2017-10-10
DOID:9001989	Folate-Sensitive Neural Tube Defects	skos:exactMatch	MIM:601634	{Neural tube defects, folate-sensitive, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9001990	Meckel Syndrome 14	skos:exactMatch	MIM:619879	Meckel syndrome 14	semapv:ManualMappingCuration	2022-05-13
DOID:9001991	Renal-Hepatic-Pancreatic Dysplasia 1	skos:exactMatch	MIM:208540	Renal-hepatic-pancreatic dysplasia 1	semapv:ManualMappingCuration	2014-06-23
DOID:9001993	Retinitis Pigmentosa 76	skos:exactMatch	MIM:617123	Retinitis pigmentosa 76	semapv:ManualMappingCuration	2016-10-18
DOID:9001994	Synpolydactyly 2	skos:exactMatch	MIM:608180	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses	semapv:ManualMappingCuration	2017-10-03
DOID:9001998	Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	skos:exactMatch	MIM:601027	TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES	semapv:ManualMappingCuration	
DOID:9001999	Agenesis of Corpus Callosum	skos:exactMatch	MIM:217990	CORPUS CALLOSUM, AGENESIS OF	semapv:ManualMappingCuration	2022-12-06
DOID:9002000	Steinfeld Syndrome	skos:exactMatch	MIM:184705	STEINFELD SYNDROME	semapv:ManualMappingCuration	
DOID:9002001	Congenital Central Hypoventilation Syndrome 3	skos:exactMatch	MIM:619483	?Central hypoventilation syndrome, congenital, 3	semapv:ManualMappingCuration	2021-10-01
DOID:9002003	Three M Syndrome 3	skos:exactMatch	MIM:614205	3-M syndrome 3	semapv:ManualMappingCuration	2014-09-02
DOID:9002004	Caudal Duplication Anomaly	skos:exactMatch	MIM:607864	?Caudal duplication anomaly	semapv:ManualMappingCuration	2017-10-03
DOID:9002005	Deficiency of Plasma Clot Retraction Factor	skos:exactMatch	MIM:262800	PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF	semapv:ManualMappingCuration	
DOID:9002008	BROWN SYNDROME	skos:exactMatch	MIM:616407	BROWN SYNDROME	semapv:ManualMappingCuration	2024-05-10
DOID:9002010	Primary Bile Acid Malabsorption 2	skos:exactMatch	MIM:619481	?Bile acid malabsorption, primary, 2	semapv:ManualMappingCuration	2021-08-25
DOID:9002011	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9	skos:exactMatch	MIM:618426	{Encephalopathy, acute, infection-induced, susceptibility to, 9}	semapv:ManualMappingCuration	2019-08-05
DOID:9002012	Senior-Loken Syndrome 3	skos:exactMatch	MIM:606995	Senior-Loken syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:9002015	Prostate Cancer, Hereditary, 13	skos:exactMatch	MIM:611928	{Prostate cancer, hereditary, 13}	semapv:ManualMappingCuration	2017-10-03
DOID:9002016	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE	skos:exactMatch	MIM:617974	Spondyloepimetaphyseal dysplasia, Di Rocco type	semapv:ManualMappingCuration	2019-07-18
DOID:9002017	Folate-Responsive Megaloblastic Anemia	skos:exactMatch	MIM:601775	?Megaloblastic anemia, folate-responsive	semapv:ManualMappingCuration	2021-04-13
DOID:9002020	Mental Health Wellness 1	skos:exactMatch	MIM:603663	{Mental health wellness-1}	semapv:ManualMappingCuration	2014-06-23
DOID:9002021	Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined	skos:exactMatch	MIM:302900	CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED	semapv:ManualMappingCuration	
DOID:9002023	Leukotriene C4 Synthase Deficiency	skos:exactMatch	MIM:614037	Leukotriene C4 synthase deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:9002027	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA	skos:exactMatch	MIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	semapv:ManualMappingCuration	2016-08-09
DOID:9002029	Indolylacroyl Glycinuria with Mental Retardation	skos:exactMatch	MIM:243050	INDOLYLACROYL GLYCINURIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9002030	CIMDAG SYNDROME	skos:exactMatch	MIM:619273	CIMDAG syndrome	semapv:ManualMappingCuration	2021-05-13
DOID:9002033	Knobloch Syndrome	skos:exactMatch	MIM:PS267750	Knobloch syndrome, type 1	semapv:ManualMappingCuration	2022-07-26
DOID:9002035	Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly	skos:exactMatch	MIM:608885	Stomatin-deficient cryohydrocytosis with neurologic defects	semapv:ManualMappingCuration	2017-10-10
DOID:9002036	Chondrocalcinosis 1	skos:exactMatch	MIM:600668	Chondrocalcinosis with early-onset osteoarthritis	semapv:ManualMappingCuration	2017-10-03
DOID:9002037	Epidermodysplasia Verruciformis, X-Linked	skos:exactMatch	MIM:305350	EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED	semapv:ManualMappingCuration	
DOID:9002039	Oocyte/Zygote/Embryo Maturation Arrest 10	skos:exactMatch	MIM:619176	Oocyte/zygote/embryo maturation arrest 10	semapv:ManualMappingCuration	2021-02-08
DOID:9002040	RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS	skos:exactMatch	MIM:616959	Retinitis pigmentosa and erythrocytic microcytosis	semapv:ManualMappingCuration	2016-06-13
DOID:9002043	Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline	skos:exactMatch	MIM:618868	Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline	semapv:ManualMappingCuration	2020-08-04
DOID:9002046	Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries	skos:exactMatch	MIM:159050	MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES	semapv:ManualMappingCuration	2018-08-21
DOID:9002047	Postaxial Polydactyly, Type A5	skos:exactMatch	MIM:263450	Polydactyly, postaxial, type A5	semapv:ManualMappingCuration	2019-10-07
DOID:9002057	Arthrogryposis Multiplex Congenita Whistling Face	skos:exactMatch	MIM:208155	ILLUM SYNDROME	semapv:ManualMappingCuration	2022-11-04
DOID:9002059	Developmental and Epileptic Encephalopathy 112	skos:exactMatch	MIM:620537	Developmental and epileptic encephalopathy 112	semapv:ManualMappingCuration	2023-10-17
DOID:9002060	BOUDIN-MORTIER SYNDROME	skos:exactMatch	MIM:619543	Boudin-Mortier syndrome	semapv:ManualMappingCuration	2021-10-14
DOID:9002061	Pseudo-TORCH Syndrome	skos:exactMatch	MIM:PS251290	Pseudo-TORCH syndrome 1	semapv:ManualMappingCuration	2019-04-29
DOID:9002063	Familial Autoinflammatory Syndrome, with or without Immunodeficiency	skos:exactMatch	MIM:619375	Autoinflammatory syndrome, familial, with or without immunodeficiency	semapv:ManualMappingCuration	2021-06-23
DOID:9002064	Parkinson's Disease 12	skos:exactMatch	MIM:300557	{Parkinson disease 12}	semapv:ManualMappingCuration	2017-10-03
DOID:9002065	Familial Atrial Fibrillation 12	skos:exactMatch	MIM:614050	?Atrial fibrillation, familial, 12	semapv:ManualMappingCuration	2014-09-02
DOID:9002066	Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities	skos:exactMatch	MIM:620240	Developmental delay with hypotonia, myopathy, and brain abnormalities	semapv:ManualMappingCuration	2023-02-10
DOID:9002068	Abnormal Thyroid Hormone Metabolism 1	skos:exactMatch	MIM:609698	Thyroid hormone metabolism, abnormal, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002070	Sick Sinus Syndrome 4	skos:exactMatch	MIM:619464	?Sick sinus syndrome 4	semapv:ManualMappingCuration	2021-08-06
DOID:9002071	Specific Language Impairment 1	skos:exactMatch	MIM:606711	Specific language impairment QTL, 1	semapv:ManualMappingCuration	2014-06-23
DOID:9002072	Winship Viljoen Leary Syndrome	skos:exactMatch	MIM:251220	MICROCEPHALY-CARDIOMYOPATHY	semapv:ManualMappingCuration	2022-11-21
DOID:9002073	Pelizaeus-Merzbacher like Brain Sclerosis	skos:exactMatch	MIM:213900	CEREBRAL SCLEROSIS SIMILAR TO PELIZAEUS-MERZBACHER DISEASE	semapv:ManualMappingCuration	
DOID:9002074	3-Hydroxyisobutyric Aciduria	skos:exactMatch	MIM:236795	3-HYDROXYISOBUTYRIC ACIDURIA	semapv:ManualMappingCuration	
DOID:9002075	Saccharopinuria	skos:exactMatch	MIM:268700	SACCHAROPINURIA	semapv:ManualMappingCuration	2017-10-03
DOID:9002076	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE	skos:exactMatch	MIM:619548	Usmani-Riazuddin syndrome, autosomal recessive	semapv:ManualMappingCuration	2021-12-14
DOID:9002078	Periventricular Nodular Heterotopia 8	skos:exactMatch	MIM:618185	Periventricular nodular heterotopia 8	semapv:ManualMappingCuration	2019-01-16
DOID:9002080	Anterior Cervical Hypertrichosis	skos:exactMatch	MIM:600457	HYPERTRICHOSIS, ANTERIOR CERVICAL	semapv:ManualMappingCuration	
DOID:9002083	Branchiootic Syndrome 1	skos:exactMatch	MIM:602588	Anterior segment anomalies with or without cataract	semapv:ManualMappingCuration	2014-10-20
DOID:9002085	Congenital Cholesteatoma	skos:exactMatch	MIM:604183	CHOLESTEATOMA, CONGENITAL	semapv:ManualMappingCuration	2022-12-06
DOID:9002086	Split-Hand-Foot Malformation with Long Bone Deficiency 1	skos:exactMatch	MIM:119100	Split-hand/foot malformation with long bone deficiency 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002089	Tumor Predisposition Syndrome 1	skos:exactMatch	MIM:614327	Tumor predisposition syndrome 1	semapv:ManualMappingCuration	2014-09-02
DOID:9002090	Galactorrhea	skos:exactMatch	MIM:230300	GALACTORRHEA	semapv:ManualMappingCuration	2022-11-14
DOID:9002091	Paragangliomas 5	skos:exactMatch	MIM:614165	Pheochromocytoma/paraganglioma syndrome 5	semapv:ManualMappingCuration	2014-09-09
DOID:9002095	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:619470	Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities	semapv:ManualMappingCuration	2021-10-21
DOID:9002099	Thalamic Degeneration Symmetrical Infantile	skos:exactMatch	MIM:273490	THALAMIC DEGENERATION, SYMMETRIC INFANTILE	semapv:ManualMappingCuration	
DOID:9002109	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS	skos:exactMatch	MIM:618736	Structural brain anomalies with impaired intellectual development and craniosynostosis	semapv:ManualMappingCuration	2020-02-17
DOID:9002112	Wiedemann-Steiner syndrome	skos:exactMatch	MIM:605130	Wiedemann-Steiner syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9002114	Charcot-Marie-Tooth Disease Axonal Type 2HH	skos:exactMatch	MIM:619574	Charcot-Marie-Tooth disease, axonal, type 2HH	semapv:ManualMappingCuration	2021-10-27
DOID:9002115	Cutis Verticis Gyrata and Mental Deficiency	skos:exactMatch	MIM:219300	CUTIS VERTICIS GYRATA AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	2021-02-16
DOID:9002117	Hypoalphalipoproteinemias	skos:exactMatch	MIM:605201	High density lipoprotein cholesterol level QTL14	semapv:ManualMappingCuration	2014-06-23
DOID:9002118	Lectin Complement Activation Pathway Defects	skos:exactMatch	MIM:PS614372	{Chronic infections, due to MBL deficiency}	semapv:ManualMappingCuration	2022-08-08
DOID:9002120	Congenital Mydriasis	skos:exactMatch	MIM:159420	MYDRIASIS, CONGENITAL	semapv:ManualMappingCuration	
DOID:9002122	Nanophthalmos 2	skos:exactMatch	MIM:609549	Nanophthalmos 2	semapv:ManualMappingCuration	2017-10-03
DOID:9002124	IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA	skos:exactMatch	MIM:618042	Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia	semapv:ManualMappingCuration	2022-07-07
DOID:9002126	Osteosclerosis with Ichthyosis and Premature Ovarian Failure	skos:exactMatch	MIM:609993	OSTEOSCLEROSIS WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE	semapv:ManualMappingCuration	2022-11-29
DOID:9002127	Osteofibrous Dysplasia	skos:exactMatch	MIM:607278	{Osteofibrous dysplasia, susceptibility to}	semapv:ManualMappingCuration	
DOID:9002129	Candidiasis, Familial, 6	skos:exactMatch	MIM:613956	?Candidiasis, familial, 6, autosomal dominant	semapv:ManualMappingCuration	2014-09-02
DOID:9002132	Congenital Disorder of Glycosylation Type IIw	skos:exactMatch	MIM:619525	Congenital disorder of glycosylation, type IIw	semapv:ManualMappingCuration	2021-09-16
DOID:9002133	Singleton-Merten Syndrome 2	skos:exactMatch	MIM:616298	Singleton-Merten syndrome 2	semapv:ManualMappingCuration	2017-04-06
DOID:9002135	Congenital Infantile Lactic Acidosis due to LAD Deficiency	skos:exactMatch	MIM:246900	Dihydrolipoamide dehydrogenase deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:9002139	Systemic Autoinflammatory Disease, X-Linked	skos:exactMatch	MIM:301081	Autoinflammatory disease, systemic, X-linked	semapv:ManualMappingCuration	2022-07-29
DOID:9002140	Microtia, Meatal Atresia and Conductive Deafness	skos:exactMatch	MIM:251800	MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS	semapv:ManualMappingCuration	
DOID:9002143	Visceral Heterotaxy 2, Autosomal	skos:exactMatch	MIM:605376	Heterotaxy, visceral, 2, autosomal	semapv:ManualMappingCuration	2014-06-23
DOID:9002145	Triphalangeal Thumbs with Brachyectrodactyly	skos:exactMatch	MIM:190680	TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY	semapv:ManualMappingCuration	2022-12-06
DOID:9002146	Subungual Exostoses	skos:exactMatch	MIM:603656	EXOSTOSIS, DUPUYTREN SUBUNGUAL	semapv:ManualMappingCuration	
DOID:9002147	Dysmyelination with Jaundice	skos:exactMatch	MIM:224250	DYSMYELINATION WITH JAUNDICE	semapv:ManualMappingCuration	2022-12-05
DOID:9002152	IFAP Syndrome	skos:exactMatch	MIM:PS308205	IFAP syndrome with or without BRESHECK syndrome	semapv:ManualMappingCuration	2021-02-15
DOID:9002154	Crossed Polysyndactyly	skos:exactMatch	MIM:175690	POLYSYNDACTYLY, CROSSED	semapv:ManualMappingCuration	
DOID:9002158	Visceral Heterotaxy 11, Autosomal	skos:exactMatch	MIM:619608	Heterotaxy, visceral, 11, autosomal, with male infertility	semapv:ManualMappingCuration	2021-11-09
DOID:9002163	Silver-Russell Syndrome 3	skos:exactMatch	MIM:616489	Silver-Russell syndrome 3	semapv:ManualMappingCuration	2016-05-19
DOID:9002171	Diencephalic-Mesencephalic Junction Dysplasia Syndromes	skos:exactMatch	MIM:PS251280	Diencephalic-mesencephalic junction dysplasia syndrome 1	semapv:ManualMappingCuration	2019-11-21
DOID:9002173	osteogenesis imperfecta type 23	skos:exactMatch	MIM:620639	Osteogenesis imperfecta, type XXIII	semapv:ManualMappingCuration	2024-02-09
DOID:9002175	Deafness with Anhidrotic Ectodermal Dysplasia	skos:exactMatch	MIM:125050	DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA	semapv:ManualMappingCuration	
DOID:9002178	Reticuloendotheliosis, X-Linked	skos:exactMatch	MIM:312500	RETICULOENDOTHELIOSIS, X-LINKED	semapv:ManualMappingCuration	2017-10-05
DOID:9002182	Cafe au lait Spots, Multiple	skos:exactMatch	MIM:114030	CAFE-AU-LAIT SPOTS, MULTIPLE	semapv:ManualMappingCuration	2017-10-03
DOID:9002184	Megalencephaly with Dysmyelination	skos:exactMatch	MIM:249240	MEGALENCEPHALY WITH DYSMYELINATION	semapv:ManualMappingCuration	
DOID:9002186	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	skos:exactMatch	MIM:615937	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	semapv:ManualMappingCuration	2016-08-10
DOID:9002190	Meckel Syndrome 12	skos:exactMatch	MIM:616258	?Meckel syndrome 12	semapv:ManualMappingCuration	2017-05-04
DOID:9002191	Thymic Aplasia with Fetal Death	skos:exactMatch	MIM:274210	THYMIC APLASIA WITH FETAL DEATH	semapv:ManualMappingCuration	
DOID:9002192	Urticaria, Familial Localized Heat	skos:exactMatch	MIM:191950	URTICARIA, FAMILIAL LOCALIZED HEAT	semapv:ManualMappingCuration	
DOID:9002193	Myopia 8	skos:exactMatch	MIM:609257	Myopia 8	semapv:ManualMappingCuration	2017-10-03
DOID:9002194	Nonmedullary Thyroid Carcinoma, with or without Cell Oxyphilia	skos:exactMatch	MIM:603386	Thyroid carcinoma, nonmedullary, with cell oxyphilia	semapv:ManualMappingCuration	2017-10-03
DOID:9002198	Diarrhea 11	skos:exactMatch	MIM:618662	Diarrhea 11, malabsorptive, congenital	semapv:ManualMappingCuration	2019-11-15
DOID:9002199	Paragangliomas 1	skos:exactMatch	MIM:168000	Pheochromocytoma/paraganglioma syndrome 1	semapv:ManualMappingCuration	2019-01-29
DOID:9002200	Postaxial Polydactyly, Type A9	skos:exactMatch	MIM:618219	?Polydactyly, postaxial, type A9	semapv:ManualMappingCuration	2019-01-16
DOID:9002202	Opsismodysplasia	skos:exactMatch	MIM:258480	Opsismodysplasia	semapv:ManualMappingCuration	2014-10-20
DOID:9002205	Periventricular Nodular Heterotopia 2	skos:exactMatch	MIM:608097	Periventricular heterotopia with microcephaly	semapv:ManualMappingCuration	2017-10-03
DOID:9002206	Double Nail for Fifth Toe	skos:exactMatch	MIM:126500	DOUBLE NAIL FOR FIFTH TOE	semapv:ManualMappingCuration	
DOID:9002217	Dermal Ridges, Nelson Syndrome	skos:exactMatch	MIM:125530	DERMAL RIDGES, NELSON SYNDROME	semapv:ManualMappingCuration	
DOID:9002219	Choroid Plexus Calcification with Mental Retardation	skos:exactMatch	MIM:215480	CHOROID PLEXUS CALCIFICATION AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	2021-02-22
DOID:9002225	Congenital Dyserythropoietic Anemia Type IIIb	skos:exactMatch	MIM:619789	Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive	semapv:ManualMappingCuration	2022-03-24
DOID:9002226	Localized Epidermolysis Bullosa Simplex 2C	skos:exactMatch	MIM:619594	Epidermolysis bullosa simplex 2C, localized	semapv:ManualMappingCuration	2021-11-03
DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	skos:exactMatch	MIM:109543	{Leukemia, chronic lymphocytic, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	skos:exactMatch	MIM:151400	LEUKEMIA, CHRONIC LYMPHOCYTIC	semapv:ManualMappingCuration	2017-10-03
DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	skos:exactMatch	MIM:609630	{Leukemia, chronic lymphocytic, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	skos:exactMatch	MIM:612557	{Leukemia, chronic lymphocytic, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	skos:exactMatch	MIM:612558	{Leukemia, chronic lymphocytic susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	skos:exactMatch	MIM:612559	{Leukemia, chronic lymphocytic susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:9002229	Oculodental Syndrome Rutherfurd Syndrome	skos:exactMatch	MIM:180900	RUTHERFURD SYNDROME	semapv:ManualMappingCuration	
DOID:9002230	GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY	skos:exactMatch	MIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	semapv:ManualMappingCuration	2017-04-25
DOID:9002235	Rhabdomyolysis, Cerivastatin-Induced	skos:exactMatch	MIM:618018	{Drug metabolism, altered, CYP2C8-related}	semapv:ManualMappingCuration	
DOID:9002237	Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type	skos:exactMatch	MIM:156230	MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE	semapv:ManualMappingCuration	
DOID:9002238	Spondylometaphyseal Dysplasia, X-Linked	skos:exactMatch	MIM:313420	SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED	semapv:ManualMappingCuration	2021-10-27
DOID:9002239	Estrogen Resistance	skos:exactMatch	MIM:615363	Estrogen resistance	semapv:ManualMappingCuration	2014-09-09
DOID:9002242	Distal Arthrogryposis Type 11	skos:exactMatch	MIM:620019	?Arthrogryposis, distal, type 11	semapv:ManualMappingCuration	2022-08-26
DOID:9002243	Leg, Absence Deformity of, with Congenital Cataract	skos:exactMatch	MIM:246000	LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT	semapv:ManualMappingCuration	2017-10-10
DOID:9002247	Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly	skos:exactMatch	MIM:611733	DAUWERSE-PETERS SYNDROME	semapv:ManualMappingCuration	
DOID:9002248	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES	skos:exactMatch	MIM:617175	Retinal dystrophy with or without extraocular anomalies	semapv:ManualMappingCuration	2016-12-06
DOID:9002252	Scapulohumeroperoneal Myopathy	skos:exactMatch	MIM:616852	?Myopathy, scapulohumeroperoneal	semapv:ManualMappingCuration	2016-04-14
DOID:9002255	Acanthosis Nigricans Muscle Cramps Acral Enlargement	skos:exactMatch	MIM:200170	ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT	semapv:ManualMappingCuration	2018-08-22
DOID:9002257	Shprintzen Omphalocele Syndrome	skos:exactMatch	MIM:182210	SHPRINTZEN OMPHALOCELE SYNDROME	semapv:ManualMappingCuration	
DOID:9002261	Permanent Neonatal Diabetes Mellitus 1	skos:exactMatch	MIM:606176	Diabetes mellitus, permanent neonatal 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002263	Cornea Plana 2	skos:exactMatch	MIM:217300	Cornea plana 2, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:9002267	Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies	skos:exactMatch	MIM:618577	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	semapv:ManualMappingCuration	2019-10-10
DOID:9002268	Hand and Foot Deformity with Flat Facies	skos:exactMatch	MIM:139750	HAND AND FOOT DEFORMITY WITH FLAT FACIES	semapv:ManualMappingCuration	
DOID:9002276	Uridine-Cytidineuria	skos:exactMatch	MIM:618477	[Uridine-cytidineuria]	semapv:ManualMappingCuration	2019-06-25
DOID:9002277	Dandy-Walker Malformation with Postaxial Polydactyly	skos:exactMatch	MIM:220220	DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY	semapv:ManualMappingCuration	
DOID:9002279	Permanent Neonatal Diabetes Mellitus 3	skos:exactMatch	MIM:618857	Diabetes mellitus, permanent neonatal 3, with or without neurologic features	semapv:ManualMappingCuration	2020-05-01
DOID:9002282	Monocyte Esterase Deficiency	skos:exactMatch	MIM:618057	Drug metabolism, altered, CES1-related	semapv:ManualMappingCuration	2014-10-20
DOID:9002288	Hoxha-Aliu syndrome	skos:exactMatch	MIM:620662	Hoxha-Aliu syndrome	semapv:ManualMappingCuration	2024-02-29
DOID:9002289	Retinitis Pigmentosa 96	skos:exactMatch	MIM:620228	Retinitis pigmentosa 96, autosomal dominant	semapv:ManualMappingCuration	2023-02-02
DOID:9002291	Hereditary Angioedema 6	skos:exactMatch	MIM:619363	Angioedema, hereditary, 6	semapv:ManualMappingCuration	2021-06-11
DOID:9002294	Bilateral Amastia with Ureteral Triplication and Dysmorphism	skos:exactMatch	MIM:104350	AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM	semapv:ManualMappingCuration	2022-11-21
DOID:9002295	Poor Drug Metabolism, CYP2D6-Related	skos:exactMatch	MIM:608902	{Codeine sensitivity}	semapv:ManualMappingCuration	2017-10-03
DOID:9002297	OCULOMOTOR-ABDUCENS SYNKINESIS	skos:exactMatch	MIM:619215	?Oculomotor-abducens synkinesis	semapv:ManualMappingCuration	2021-04-13
DOID:9002298	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	skos:exactMatch	MIM:605115	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy	semapv:ManualMappingCuration	2017-10-03
DOID:9002301	Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities	skos:exactMatch	MIM:619173	Ceroid lipofuscinosis, neuronal, 15	semapv:ManualMappingCuration	2022-11-14
DOID:9002302	Generalized Severe Epidermolysis Bullosa Simplex 1A	skos:exactMatch	MIM:131760	Epidermolysis bullosa simplex 1A, generalized severe	semapv:ManualMappingCuration	2018-06-18
DOID:9002303	Polyglucosan Body Myopathy 2	skos:exactMatch	MIM:616199	Polyglucosan body myopathy 2	semapv:ManualMappingCuration	2017-02-06
DOID:9002306	Aggressive Periodontitis, 2	skos:exactMatch	MIM:608526	Periodontitis, aggressive, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9002307	Mandibulofacial Dysostosis Syndrome, Bauru Type	skos:exactMatch	MIM:604830	MANDIBULOFACIAL DYSOSTOSIS SYNDROME, BAURU TYPE	semapv:ManualMappingCuration	
DOID:9002310	Split-Hand/Foot Malformation with Long Bone Deficiency 3	skos:exactMatch	MIM:612576	Split-hand/foot malformation with long bone deficiency 3	semapv:ManualMappingCuration	2017-10-03
DOID:9002313	Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6	skos:exactMatch	MIM:620647	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6	semapv:ManualMappingCuration	2023-12-18
DOID:9002316	Myoclonus, Cerebellar Ataxia, and Deafness	skos:exactMatch	MIM:159800	MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS	semapv:ManualMappingCuration	
DOID:9002319	Glanzmann Thrombasthenia 1	skos:exactMatch	MIM:273800	Glanzmann thrombasthenia 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002325	Male Hypogonadism with Mental Retardation and Skeletal Anomalies	skos:exactMatch	MIM:307500	HYPOGONADISM, MALE, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND SKELETAL ANOMALIES	semapv:ManualMappingCuration	
DOID:9002327	Hyperparathyroidism 2	skos:exactMatch	MIM:145001	Hyperparathyroidism-jaw tumor syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9002328	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME	skos:exactMatch	MIM:619699	Ferguson-Bonni neurodevelopmental syndrome	semapv:ManualMappingCuration	2022-03-14
DOID:9002329	Adams-Oliver Syndrome 4	skos:exactMatch	MIM:615297	Adams-Oliver syndrome 4	semapv:ManualMappingCuration	2014-09-09
DOID:9002330	Familial Primary Cryofibrinogenemia	skos:exactMatch	MIM:123540	CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY	semapv:ManualMappingCuration	
DOID:9002333	Metaphyseal Acroscyphodysplasia	skos:exactMatch	MIM:250215	METAPHYSEAL ACROSCYPHODYSPLASIA	semapv:ManualMappingCuration	2020-06-15
DOID:9002336	Renal, Genital, and Middle Ear Anomalies	skos:exactMatch	MIM:267400	RENAL, GENITAL, AND MIDDLE EAR ANOMALIES	semapv:ManualMappingCuration	
DOID:9002337	Aortic Aneurysm, Familial Abdominal 4	skos:exactMatch	MIM:614375	Aortic aneurysm, familial abdominal 4	semapv:ManualMappingCuration	2016-01-19
DOID:9002339	NADH Cytochrome B5 Reductase Deficiency	skos:exactMatch	MIM:250800	Methemoglobinemia, type I	semapv:ManualMappingCuration	2017-10-03
DOID:9002340	Spinocerebellar Ataxia 32	skos:exactMatch	MIM:613909	Spinocerebellar ataxia 32	semapv:ManualMappingCuration	2018-05-29
DOID:9002342	Multiple Exostoses with Spastic Tetraparesis	skos:exactMatch	MIM:158345	MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS	semapv:ManualMappingCuration	
DOID:9002343	Corneal Cerebellar Syndrome	skos:exactMatch	MIM:271310	SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY	semapv:ManualMappingCuration	
DOID:9002347	MASP2 Deficiency	skos:exactMatch	MIM:613791	MASP2 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9002349	Charcot-Marie-Tooth Disease Type 1J	skos:exactMatch	MIM:620111	Charcot-Marie-Tooth disease, demyelinating, type 1J	semapv:ManualMappingCuration	2022-11-04
DOID:9002350	Hereditary Hemorrhagic Telangiectasia, Type 1	skos:exactMatch	MIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	semapv:ManualMappingCuration	2018-01-17
DOID:9002351	Lipomyelomeningocele	skos:exactMatch	MIM:609537	LIPOMYELOMENINGOCELE	semapv:ManualMappingCuration	2022-11-21
DOID:9002352	Corneal Dystrophy, Fuchs Endothelial, 6	skos:exactMatch	MIM:613270	Corneal dystrophy, Fuchs endothelial, 6	semapv:ManualMappingCuration	2017-10-03
DOID:9002353	Erythrocyte Lactate Transporter Defect	skos:exactMatch	MIM:245340	Erythrocyte lactate transporter defect	semapv:ManualMappingCuration	2017-10-03
DOID:9002356	Prostate Cancer, Hereditary, 2	skos:exactMatch	MIM:614731	{Prostate cancer, hereditary, 2, susceptibility to}	semapv:ManualMappingCuration	2015-06-11
DOID:9002359	Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration	skos:exactMatch	MIM:225755	ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION	semapv:ManualMappingCuration	
DOID:9002361	Bazex-Dupre-Christol Syndrome	skos:exactMatch	MIM:301845	Bazex-Dupre-Christol syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9002363	Nonphotosensitive Trichothiodystrophy 8	skos:exactMatch	MIM:619691	Trichothiodystrophy 8, nonphotosensitive	semapv:ManualMappingCuration	2022-01-06
DOID:9002364	Stoll Levy Francfort Syndrome	skos:exactMatch	MIM:171480	PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA	semapv:ManualMappingCuration	
DOID:9002367	Diamond-Blackfan Anemia 21	skos:exactMatch	MIM:620072	Diamond-Blackfan anemia 21	semapv:ManualMappingCuration	2022-10-13
DOID:9002368	Cutis Marmorata Telangiectatica Congenita	skos:exactMatch	MIM:219250	CUTIS MARMORATA TELANGIECTATICA CONGENITA	semapv:ManualMappingCuration	2022-03-25
DOID:9002370	Ectodermal Dysplasia-Syndactyly Syndrome 1	skos:exactMatch	MIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	semapv:ManualMappingCuration	2014-06-23
DOID:9002372	Radius Absent Anogenital Anomalies	skos:exactMatch	MIM:312190	RADIAL APLASIA, X-LINKED	semapv:ManualMappingCuration	
DOID:9002374	Coronary Artery Disease, Autosomal Dominant 2	skos:exactMatch	MIM:610947	{Coronary artery disease, autosomal dominant, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:9002376	Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant	skos:exactMatch	MIM:608257	MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	
DOID:9002381	Progressive Familial Intrahepatic Cholestasis 9	skos:exactMatch	MIM:619849	Cholestasis, progressive familial intrahepatic, 9	semapv:ManualMappingCuration	2022-04-28
DOID:9002383	Lamb-Shaffer Syndrome	skos:exactMatch	MIM:616803	Lamb-Shaffer syndrome	semapv:ManualMappingCuration	2016-03-11
DOID:9002385	Limb-Mammary Syndrome	skos:exactMatch	MIM:603543	Limb-mammary syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9002387	FG Syndrome 2	skos:exactMatch	MIM:300321	?FG syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:9002389	Costocoracoid Ligament Congenitally Short	skos:exactMatch	MIM:122580	COSTOCORACOID LIGAMENT, CONGENITALLY SHORT	semapv:ManualMappingCuration	
DOID:9002391	Arterial Dissection with Lentiginosis	skos:exactMatch	MIM:600459	ARTERIAL DISSECTION WITH LENTIGINOSIS	semapv:ManualMappingCuration	2020-02-17
DOID:9002393	Isolated Prolactin Deficiency	skos:exactMatch	MIM:264110	PROLACTIN DEFICIENCY, ISOLATED	semapv:ManualMappingCuration	
DOID:9002394	INTERSTITIAL LUNG AND LIVER DISEASE	skos:exactMatch	MIM:615486	Interstitial lung and liver disease	semapv:ManualMappingCuration	2018-11-09
DOID:9002396	Spinocerebellar Ataxia 50	skos:exactMatch	MIM:620158	Spinocerebellar ataxia 50	semapv:ManualMappingCuration	2022-12-21
DOID:9002397	Congenital Disorder of Glycosylation, Type I/IIx	skos:exactMatch	MIM:212067	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx	semapv:ManualMappingCuration	2017-10-03
DOID:9002400	Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy	skos:exactMatch	MIM:207740	APLASIA OF EXTENSOR MUSCLES OF FINGERS, UNILATERAL, WITH GENERALIZED POLYNEUROPATHY	semapv:ManualMappingCuration	2022-11-21
DOID:9002402	Slowed Nerve Conduction Velocity, Autosomal Dominant	skos:exactMatch	MIM:608236	?Slowed nerve conduction velocity, AD	semapv:ManualMappingCuration	2017-10-03
DOID:9002403	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome	skos:exactMatch	MIM:PS603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	semapv:ManualMappingCuration	2019-03-21
DOID:9002409	Amniotic Band Sequence	skos:exactMatch	MIM:217100	CONSTRICTING BANDS, CONGENITAL	semapv:ManualMappingCuration	
DOID:9002411	Crome Syndrome	skos:exactMatch	MIM:218900	CROME SYNDROME	semapv:ManualMappingCuration	
DOID:9002412	Ovarian Dysgenesis 10	skos:exactMatch	MIM:619834	?Ovarian dysgenesis 10	semapv:ManualMappingCuration	2022-04-12
DOID:9002414	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES	skos:exactMatch	MIM:619522	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities	semapv:ManualMappingCuration	2021-10-21
DOID:9002415	Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension	skos:exactMatch	MIM:166990	OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION	semapv:ManualMappingCuration	2017-10-03
DOID:9002416	X Inactivation, Familial Skewed, 1	skos:exactMatch	MIM:300087	X-inactivation, familial skewed	semapv:ManualMappingCuration	2014-10-20
DOID:9002417	Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant	skos:exactMatch	MIM:618564	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	semapv:ManualMappingCuration	2019-10-10
DOID:9002419	Multisystem Autoimmune Disease, Infantile-Onset	skos:exactMatch	MIM:PS615952	Autoimmune disease, multisystem, infantile-onset, 1	semapv:ManualMappingCuration	2019-03-19
DOID:9002420	BDV Syndrome	skos:exactMatch	MIM:619326	BDV syndrome	semapv:ManualMappingCuration	2021-08-13
DOID:9002421	Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development	skos:exactMatch	MIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	semapv:ManualMappingCuration	2019-01-16
DOID:9002422	Thrombocytopenia, Anemia, and Myelofibrosis	skos:exactMatch	MIM:617441	?Thrombocytopenia, anemia, and myelofibrosis	semapv:ManualMappingCuration	2017-06-26
DOID:9002424	SCARF Syndrome	skos:exactMatch	MIM:312830	SCARF SYNDROME	semapv:ManualMappingCuration	
DOID:9002426	Ventricular Fibrillation, Paroxysmal Familial, 2	skos:exactMatch	MIM:612956	{Ventricular fibrillation, paroxysmal familial, 2}	semapv:ManualMappingCuration	2017-04-04
DOID:9002428	Blue Rubber Bleb Nevus Syndrome	skos:exactMatch	MIM:112200	BLUE RUBBER BLEB NEVUS	semapv:ManualMappingCuration	
DOID:9002430	Tarsal Coalition	skos:exactMatch	MIM:186850	TARSAL COALITION	semapv:ManualMappingCuration	2022-11-29
DOID:9002431	Microcornea, Glaucoma, and Absent Frontal Sinuses	skos:exactMatch	MIM:156700	MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES	semapv:ManualMappingCuration	
DOID:9002434	Keratoconus 3	skos:exactMatch	MIM:608586	Keratoconus 3	semapv:ManualMappingCuration	2017-10-03
DOID:9002439	Oliver Syndrome	skos:exactMatch	MIM:258200	OLIVER SYNDROME	semapv:ManualMappingCuration	
DOID:9002441	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26	skos:exactMatch	MIM:618848	Muscular dystrophy, limb-girdle, autosomal recessive 26	semapv:ManualMappingCuration	2020-04-22
DOID:9002445	Anal Sphincter Dysplasia	skos:exactMatch	MIM:105563	ANAL SPHINCTER DYSPLASIA	semapv:ManualMappingCuration	2017-10-03
DOID:9002447	Myoectodermal Gonadal Dysgenesis Syndrome	skos:exactMatch	MIM:618419	Myoectodermal gonadal dysgenesis syndrome	semapv:ManualMappingCuration	2019-10-18
DOID:9002458	Roifman Syndrome	skos:exactMatch	MIM:616651	Roifman syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9002460	Progressive Familial Intrahepatic Cholestasis 7	skos:exactMatch	MIM:619658	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	semapv:ManualMappingCuration	2021-12-22
DOID:9002462	Distal Symphalangism, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch	skos:exactMatch	MIM:606895	SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED ZYGOMATIC ARCH	semapv:ManualMappingCuration	
DOID:9002463	Premature Aging Syndrome, Okamoto Type	skos:exactMatch	MIM:601811	PREMATURE AGING SYNDROME, OKAMOTO TYPE	semapv:ManualMappingCuration	
DOID:9002465	Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis	skos:exactMatch	MIM:192050	UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL HEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS	semapv:ManualMappingCuration	
DOID:9002469	Carpenter Syndrome 2	skos:exactMatch	MIM:614976	Carpenter syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:9002470	Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome	skos:exactMatch	MIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9002471	Progressive Familial Intrahepatic Cholestasis 6	skos:exactMatch	MIM:619484	?Cholestasis, progressive familial intrahepatic, 6	semapv:ManualMappingCuration	2021-08-25
DOID:9002472	Small Intestinal Diverticulosis	skos:exactMatch	MIM:223320	DIVERTICULOSIS, SMALL-INTESTINAL	semapv:ManualMappingCuration	
DOID:9002477	Deafness-Infertility Syndrome	skos:exactMatch	MIM:611102	Deafness and male infertility	semapv:ManualMappingCuration	2017-10-03
DOID:9002479	Otofaciocervical Syndrome 2	skos:exactMatch	MIM:615560	Otofaciocervical syndrome 2 with T-cell deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:9002480	Hydrocephalus, Endocardial Fibroelastosis, and Cataracts	skos:exactMatch	MIM:600559	HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS	semapv:ManualMappingCuration	2022-10-31
DOID:9002482	Mitochondrial Myopathy with Diabetes	skos:exactMatch	MIM:500002	MITOCHONDRIAL MYOPATHY WITH DIABETES	semapv:ManualMappingCuration	
DOID:9002485	Epiphyseal Dysplasia, Baumann Type	skos:exactMatch	MIM:610797	EPIPHYSEAL DYSPLASIA, BAUMANN TYPE	semapv:ManualMappingCuration	
DOID:9002486	Idiopathic Generalized Epilepsy 18	skos:exactMatch	MIM:619521	{Epilepsy, idiopathic generalized, susceptibility to, 18}	semapv:ManualMappingCuration	2021-09-14
DOID:9002489	Genochondromatosis	skos:exactMatch	MIM:137360	GENOCHONDROMATOSIS	semapv:ManualMappingCuration	
DOID:9002490	Benign Recurrent Vertigo 1	skos:exactMatch	MIM:193007	Vestibulopathy, familial	semapv:ManualMappingCuration	2017-10-03
DOID:9002492	Auriculocondylar Syndrome 1	skos:exactMatch	MIM:602483	Auriculocondylar syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002494	Mitochondrial Myopathy with Lactic Acidosis	skos:exactMatch	MIM:251950	?Mitochondrial myopathy with lactic acidosis	semapv:ManualMappingCuration	2017-10-10
DOID:9002496	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia	skos:exactMatch	MIM:PS605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	semapv:ManualMappingCuration	2019-03-19
DOID:9002497	Immune Suppression	skos:exactMatch	MIM:146850	IMMUNE SUPPRESSION	semapv:ManualMappingCuration	2014-06-23
DOID:9002502	Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts	skos:exactMatch	MIM:613730	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	semapv:ManualMappingCuration	2014-06-23
DOID:9002505	Wilms Tumor 3	skos:exactMatch	MIM:194090	Wilms tumor, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:9002507	Lymphatic Malformation 12	skos:exactMatch	MIM:620014	Lymphatic malformation 12	semapv:ManualMappingCuration	2022-08-24
DOID:9002508	Immunodeficiency 87 and Autoimmunity	skos:exactMatch	MIM:619573	Immunodeficiency 87 and autoimmunity	semapv:ManualMappingCuration	2021-10-27
DOID:9002509	Kosaki Overgrowth Syndrome	skos:exactMatch	MIM:616592	Kosaki overgrowth syndrome	semapv:ManualMappingCuration	2017-05-01
DOID:9002510	Focal Epilepsy with Speech Disorder and with or without Mental Retardation	skos:exactMatch	MIM:245570	Epilepsy, focal, with speech disorder and with or without impaired intellectual development	semapv:ManualMappingCuration	2017-10-10
DOID:9002515	Rheumatoid Nodule	skos:exactMatch	MIM:180350	RHEUMATOID NODULOSIS	semapv:ManualMappingCuration	2022-11-08
DOID:9002516	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS	skos:exactMatch	MIM:619653	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	semapv:ManualMappingCuration	2022-02-11
DOID:9002519	Intestinal Polyposis with Multiple Exostoses	skos:exactMatch	MIM:175450	POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES	semapv:ManualMappingCuration	
DOID:9002520	Acrorenal Mandibular Syndrome	skos:exactMatch	MIM:200980	ACRORENAL-MANDIBULAR SYNDROME	semapv:ManualMappingCuration	
DOID:9002521	Left Ventricular Noncompaction 2	skos:exactMatch	MIM:609470	Left ventricular noncompaction 2	semapv:ManualMappingCuration	2014-06-23
DOID:9002524	Asparagine Synthetase Deficiency	skos:exactMatch	MIM:615574	Asparagine synthetase deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:9002527	Edinburgh Malformation Syndrome	skos:exactMatch	MIM:129850	EDINBURGH MALFORMATION SYNDROME	semapv:ManualMappingCuration	
DOID:9002530	pontocerebellar hypoplasia type 17	skos:exactMatch	MIM:619909	Pontocerebellar hypoplasia, type 17	semapv:ManualMappingCuration	2022-06-13
DOID:9002536	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME	skos:exactMatch	MIM:618732	Poirier-Bienvenu neurodevelopmental syndrome	semapv:ManualMappingCuration	2020-02-17
DOID:9002540	Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures	skos:exactMatch	MIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	semapv:ManualMappingCuration	2017-12-06
DOID:9002541	Isolated Microphthalmia with Cataract 1	skos:exactMatch	MIM:156850	Microphthalmia with cataract 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002543	Myopathy with Abnormal Lipid Metabolism	skos:exactMatch	MIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	semapv:ManualMappingCuration	2017-10-10
DOID:9002545	Odontochondrodysplasia 2 with Hearing Loss and Diabetes	skos:exactMatch	MIM:619269	?Ondontochondrodysplasia 2 with hearing loss and diabetes	semapv:ManualMappingCuration	2021-04-13
DOID:9002547	Sitosterolemia 1	skos:exactMatch	MIM:210250	Sitosterolemia 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002548	Lipoma of the Conjunctiva	skos:exactMatch	MIM:151700	LIPOMA OF THE CONJUNCTIVA	semapv:ManualMappingCuration	
DOID:9002555	Cardiac, Facial, and Digital Anomalies with Developmental Delay	skos:exactMatch	MIM:618164	Cardiac, facial, and digital anomalies with developmental delay	semapv:ManualMappingCuration	2019-01-11
DOID:9002557	Inherited Blood Coagulation Disease	skos:exactMatch	MIM:PS277450	Vitamin K-dependent clotting factors, combined deficiency of, 1	semapv:ManualMappingCuration	2019-03-26
DOID:9002565	Partial Epilepsy with Pericentral Spikes	skos:exactMatch	MIM:607221	Epilepsy, partial, with pericentral spikes	semapv:ManualMappingCuration	2017-10-03
DOID:9002568	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	skos:exactMatch	MIM:251280	Diencephalic-mesencephalic junction dysplasia syndrome 1	semapv:ManualMappingCuration	2019-10-31
DOID:9002570	Mirror Movements 1	skos:exactMatch	MIM:157600	Mirror movements 1 and/or agenesis of the corpus callosum	semapv:ManualMappingCuration	2014-06-23
DOID:9002571	Aicardi-Goutieres Syndrome 7	skos:exactMatch	MIM:615846	Aicardi-Goutieres syndrome 7	semapv:ManualMappingCuration	2014-09-09
DOID:9002574	Thrombocytopenia 3	skos:exactMatch	MIM:273900	Thrombocytopenia 3	semapv:ManualMappingCuration	2017-10-10
DOID:9002575	Myeloperoxidase Deficiency	skos:exactMatch	MIM:254600	Myeloperoxidase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9002576	Egg-Shaped Pupil	skos:exactMatch	MIM:178800	PUPIL, EGG-SHAPED	semapv:ManualMappingCuration	
DOID:9002577	Halo Nevus	skos:exactMatch	MIM:234300	HALO NEVI	semapv:ManualMappingCuration	2022-12-06
DOID:9002581	Acrocephalopolydactylous Dysplasia	skos:exactMatch	MIM:200995	ACROCEPHALOPOLYDACTYLOUS DYSPLASIA	semapv:ManualMappingCuration	
DOID:9002582	Primary Autosomal Recessive Microcephaly 23	skos:exactMatch	MIM:617985	?Microcephaly 23, primary, autosomal recessive	semapv:ManualMappingCuration	2018-06-19
DOID:9002583	Camptobrachydactyly	skos:exactMatch	MIM:114150	CAMPTOBRACHYDACTYLY	semapv:ManualMappingCuration	
DOID:9002584	Benign Essential Blepharospasm	skos:exactMatch	MIM:606798	{Blepharospasm, primary benign}	semapv:ManualMappingCuration	2017-10-03
DOID:9002585	Opticocochleodentate Degeneration	skos:exactMatch	MIM:258700	OPTICOCOCHLEODENTATE DEGENERATION	semapv:ManualMappingCuration	
DOID:9002587	Silver-Russell Syndrome 4	skos:exactMatch	MIM:618907	Silver-Russell syndrome 4	semapv:ManualMappingCuration	2020-06-15
DOID:9002588	Cardiac Septal Defects with Coarctation of the Aorta	skos:exactMatch	MIM:212090	CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA	semapv:ManualMappingCuration	
DOID:9002590	Porencephaly Cerebellar Hypoplasia Malformations	skos:exactMatch	MIM:601322	PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS	semapv:ManualMappingCuration	
DOID:9002593	Lethal Congenital Contracture Syndrome 8	skos:exactMatch	MIM:616287	Lethal congenital contracture syndrome 8	semapv:ManualMappingCuration	2017-05-01
DOID:9002594	High Hyperopia	skos:exactMatch	MIM:238950	HYPEROPIA, HIGH	semapv:ManualMappingCuration	2022-12-05
DOID:9002595	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:619854	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	semapv:ManualMappingCuration	2022-06-30
DOID:9002596	Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly	skos:exactMatch	MIM:614800	Short stature, optic nerve atrophy, and Pelger-Huet anomaly	semapv:ManualMappingCuration	2014-09-09
DOID:9002600	Hydrocephalus with Cerebellar Agenesis	skos:exactMatch	MIM:307010	HYDROCEPHALUS WITH CEREBELLAR AGENESIS	semapv:ManualMappingCuration	
DOID:9002601	Otofaciocervical Syndrome 1	skos:exactMatch	MIM:166780	?Otofaciocervical syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9002612	Pelvic Dysplasia Arthrogryposis of Lower Limbs	skos:exactMatch	MIM:602484	PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS	semapv:ManualMappingCuration	
DOID:9002614	Acute Lymphoblastic Leukemia, with Lymphomatous Features	skos:exactMatch	MIM:247640	Leukemia, acute lymphoblastic	semapv:ManualMappingCuration	2017-10-03
DOID:9002615	Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome	skos:exactMatch	MIM:607658	HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME	semapv:ManualMappingCuration	2022-12-12
DOID:9002616	Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2	skos:exactMatch	MIM:620425	?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2	semapv:ManualMappingCuration	2023-07-07
DOID:9002617	Brachytelephalangy Characteristic Facies Kallmann	skos:exactMatch	MIM:113480	BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME	semapv:ManualMappingCuration	2022-10-31
DOID:9002618	Familial Neurocardiogenic Syncope	skos:exactMatch	MIM:609289	Syncope, familial vasovagal	semapv:ManualMappingCuration	
DOID:9002620	SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION	skos:exactMatch	MIM:616541	Short stature, microcephaly, and endocrine dysfunction	semapv:ManualMappingCuration	2017-04-06
DOID:9002623	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE	skos:exactMatch	MIM:301110	Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature	semapv:ManualMappingCuration	2023-08-25
DOID:9002625	Complement Component 4, Partial Deficiency Of	skos:exactMatch	MIM:120790	Complement component 4, partial deficiency of	semapv:ManualMappingCuration	2017-10-03
DOID:9002626	Progressive Familial Intrahepatic Cholestasis 8	skos:exactMatch	MIM:619662	Cholestasis, progressive familial intrahepatic, 8	semapv:ManualMappingCuration	2021-12-22
DOID:9002627	Familial Isolated Hypoparathyroidism 2	skos:exactMatch	MIM:618883	Hypoparathyroidism, familial isolated 2	semapv:ManualMappingCuration	2020-05-15
DOID:9002628	Complete Absence of Bile and Pancreatic Ducts	skos:exactMatch	MIM:608063	BILE AND PANCREATIC DUCTS, COMPLETE ABSENCE OF	semapv:ManualMappingCuration	
DOID:9002630	Epidermolysis Bullosa, Lethal Acantholytic	skos:exactMatch	MIM:609638	Epidermolysis bullosa, lethal acantholytic	semapv:ManualMappingCuration	2017-10-03
DOID:9002631	Vitelliform Macular Dystrophy 1	skos:exactMatch	MIM:153840	MACULAR DYSTROPHY, VITELLIFORM, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002634	DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME	skos:exactMatch	MIM:619877	Dentici-Novelli neurodevelopmental syndrome	semapv:ManualMappingCuration	2022-06-13
DOID:9002635	Brachymesomelia Renal Syndrome	skos:exactMatch	MIM:113470	BRACHYMESOMELIA-RENAL SYNDROME	semapv:ManualMappingCuration	
DOID:9002637	Splenoportal Vascular Anomalies	skos:exactMatch	MIM:271500	SPLENOPORTAL VASCULAR ANOMALIES	semapv:ManualMappingCuration	
DOID:9002639	Woods Black Norbury Syndrome	skos:exactMatch	MIM:300076	Woods-Black-Norbury syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9002642	Isolated Microphthalmia with Coloboma	skos:exactMatch	MIM:PS300345	Microphthalmia with coloboma 1	semapv:ManualMappingCuration	2019-03-20
DOID:9002646	Auriculocondylar Syndrome 3	skos:exactMatch	MIM:615706	Auriculocondylar syndrome 3	semapv:ManualMappingCuration	2014-09-09
DOID:9002647	Megalencephaly - Cutis Marmorata Telangiectatica Congenita	skos:exactMatch	MIM:602501	Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic	semapv:ManualMappingCuration	2014-10-20
DOID:9002649	Acrodysostosis 2, with or without Hormone Resistance	skos:exactMatch	MIM:614613	Acrodysostosis 2, with or without hormone resistance	semapv:ManualMappingCuration	2014-09-02
DOID:9002651	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT	skos:exactMatch	MIM:618806	T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant	semapv:ManualMappingCuration	2020-08-20
DOID:9002656	Attention Deficit-Hyperactivity Disorder 7	skos:exactMatch	MIM:613003	{?Attention deficit-hyperactivity disorder, susceptibility to, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:9002657	Malocclusion and Short Stature	skos:exactMatch	MIM:248350	MALOCCLUSION AND SHORT STATURE	semapv:ManualMappingCuration	2020-06-25
DOID:9002663	Familial Cancer with In Vitro Radioresistance	skos:exactMatch	MIM:114450	CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE	semapv:ManualMappingCuration	2017-10-03
DOID:9002665	Bruck Syndrome 2	skos:exactMatch	MIM:609220	Bruck syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:9002666	Hypogonadotropic Hypogonadism 26 with or without Anosmia	skos:exactMatch	MIM:619718	Hypogonadotropic hypogonadism 26 with or without anosmia	semapv:ManualMappingCuration	2022-01-27
DOID:9002667	Lysine Malabsorption Syndrome	skos:exactMatch	MIM:247950	LYSINE MALABSORPTION SYNDROME	semapv:ManualMappingCuration	2022-12-05
DOID:9002676	Cerebral Hemorrhage	skos:exactMatch	MIM:614519	{Stroke, hemorrhagic}	semapv:ManualMappingCuration	2017-10-10
DOID:9002678	Kumar Levick Syndrome	skos:exactMatch	MIM:106990	ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY	semapv:ManualMappingCuration	
DOID:9002680	Zimmermann-Laband Syndrome 1	skos:exactMatch	MIM:135500	Zimmermann-Laband syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002684	Localized Epidermolysis Bullosa Simplex 1C	skos:exactMatch	MIM:131800	Epidermolysis bullosa simplex 1C, localized	semapv:ManualMappingCuration	2017-10-03
DOID:9002685	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4	skos:exactMatch	MIM:616371	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4	semapv:ManualMappingCuration	2017-04-03
DOID:9002687	Arthrogryposis and Ectodermal Dysplasia	skos:exactMatch	MIM:601701	ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA	semapv:ManualMappingCuration	
DOID:9002691	Stickler Syndrome, Type V	skos:exactMatch	MIM:614284	?Stickler syndrome, type V	semapv:ManualMappingCuration	2014-09-02
DOID:9002694	Synpolydactyly 3	skos:exactMatch	MIM:610234	Synpolydactyly 3	semapv:ManualMappingCuration	2017-10-03
DOID:9002701	Spinal Intradural Arachnoid Cysts	skos:exactMatch	MIM:182990	SPINAL INTRADURAL ARACHNOID CYSTS	semapv:ManualMappingCuration	
DOID:9002706	Histidinuria, Renal Tubular Defect	skos:exactMatch	MIM:235830	HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT	semapv:ManualMappingCuration	
DOID:9002711	Gallbladder Disease 2	skos:exactMatch	MIM:609918	Gallbladder disease 2	semapv:ManualMappingCuration	2017-10-03
DOID:9002712	Thymic-Renal-Anal-Lung Dysplasia	skos:exactMatch	MIM:274265	THYMIC-RENAL-ANAL-LUNG DYSPLASIA	semapv:ManualMappingCuration	
DOID:9002714	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type	skos:exactMatch	MIM:219900	Cystinosis, late-onset juvenile or adolescent nephropathic	semapv:ManualMappingCuration	2017-10-03
DOID:9002716	Primary Ovarian Insufficiency 20	skos:exactMatch	MIM:619938	Premature ovarian failure 20	semapv:ManualMappingCuration	2022-07-01
DOID:9002719	Hairy Ears, Y-Linked	skos:exactMatch	MIM:425500	?Hairy ears, Y-linked	semapv:ManualMappingCuration	2017-10-03
DOID:9002722	Gastric Adenocarcinoma and Proximal Polyposis of the Stomach	skos:exactMatch	MIM:619182	Gastric adenocarcinoma and proximal polyposis of the stomach	semapv:ManualMappingCuration	2021-02-15
DOID:9002724	Brachydactyly, Long-Thumb Type	skos:exactMatch	MIM:112430	LONG-THUMB BRACHYDACTYLY SYNDROME	semapv:ManualMappingCuration	
DOID:9002727	Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness	skos:exactMatch	MIM:226950	EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS	semapv:ManualMappingCuration	
DOID:9002728	Hyperkeratosis-Hyperpigmentation Syndrome	skos:exactMatch	MIM:144190	HYPERKERATOSIS-HYPERPIGMENTATION SYNDROME	semapv:ManualMappingCuration	2022-10-31
DOID:9002730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE	skos:exactMatch	MIM:620038	?Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	semapv:ManualMappingCuration	2022-12-15
DOID:9002743	Striatal Degeneration, Autosomal Dominant 1	skos:exactMatch	MIM:609161	Striatal degeneration, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:9002744	Ichthyosis Hystrix, Curth Macklin Type	skos:exactMatch	MIM:146590	Ichthyosis histrix, Curth-Macklin type	semapv:ManualMappingCuration	2017-10-03
DOID:9002745	Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures	skos:exactMatch	MIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	semapv:ManualMappingCuration	2017-04-06
DOID:9002746	Infantile Myofibromatosis 2	skos:exactMatch	MIM:615293	?Myofibromatosis, infantile 2	semapv:ManualMappingCuration	2014-09-09
DOID:9002747	Selective Tooth Agenesis 2	skos:exactMatch	MIM:602639	Tooth agenesis, selective, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9002748	Candidiasis, Familial, 1	skos:exactMatch	MIM:114580	Candidiasis, familial, 1, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:9002749	Prostate Cancer, Hereditary, 11	skos:exactMatch	MIM:611955	{Prostate cancer, hereditary, 11}	semapv:ManualMappingCuration	2017-10-03
DOID:9002750	Rosenthal-Kloepfer Syndrome	skos:exactMatch	MIM:102100	ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA	semapv:ManualMappingCuration	2022-11-21
DOID:9002751	Intellectual Developmental Disorder, Autosomal Recessive 19	skos:exactMatch	MIM:614343	Intellectual developmental disorder, autosomal recessive 19	semapv:ManualMappingCuration	2018-06-01
DOID:9002752	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES	skos:exactMatch	MIM:619383	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	semapv:ManualMappingCuration	2021-08-23
DOID:9002753	Humerofemoral Hypoplasia with Radiotibial Ray Deficiency	skos:exactMatch	MIM:618022	?Humerofemoral hypoplasia with radiotibial ray deficiency	semapv:ManualMappingCuration	2019-07-11
DOID:9002756	Euhidrotic Ectodermal Dysplasia	skos:exactMatch	MIM:262020	PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS	semapv:ManualMappingCuration	
DOID:9002757	Perrault Syndrome 3	skos:exactMatch	MIM:614129	Perrault syndrome 3	semapv:ManualMappingCuration	2014-06-23
DOID:9002758	Congenital Hydrocephalus 5	skos:exactMatch	MIM:620241	{Hydrocephalus, congenital, 5, susceptibility to}	semapv:ManualMappingCuration	2023-02-16
DOID:9002761	Dyschromatosis Universalis Hereditaria 1	skos:exactMatch	MIM:127500	Dyschromatosis universalis hereditaria 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002765	Systemic Juvenile Rheumatoid Arthritis	skos:exactMatch	MIM:604302	{Rheumatoid arthritis, systemic juvenile, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9002766	Knobloch Syndrome Type I	skos:exactMatch	MIM:267750	Knobloch syndrome, type 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002767	Microhydranencephaly	skos:exactMatch	MIM:605013	Microhydranencephaly	semapv:ManualMappingCuration	2017-10-03
DOID:9002768	Perrault Syndrome 2	skos:exactMatch	MIM:614926	Perrault syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:9002769	Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects	skos:exactMatch	MIM:600123	ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS	semapv:ManualMappingCuration	2022-12-05
DOID:9002771	Bryant-Li-Bhoj Neurodevelopmental Syndrome	skos:exactMatch	MIM:PS619720	Bryant-Li-Bhoj neurodevelopmental syndrome 1	semapv:ManualMappingCuration	2022-02-10
DOID:9002778	McPherson Clemens Syndrome	skos:exactMatch	MIM:601165	CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE	semapv:ManualMappingCuration	
DOID:9002779	Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss	skos:exactMatch	MIM:614369	?Peripheral neuropathy, myopathy, hoarseness, and hearing loss	semapv:ManualMappingCuration	2014-09-09
DOID:9002780	Recurrent Respiratory Papillomatosis	skos:exactMatch	MIM:618803	?Respiratory papillomatosis, juvenile recurrent, congenital	semapv:ManualMappingCuration	2020-08-14
DOID:9002787	MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT	skos:exactMatch	MIM:618286	Macrocephaly, acquired, with impaired intellectual development	semapv:ManualMappingCuration	2020-12-14
DOID:9002789	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE	skos:exactMatch	MIM:300958	Intellectual developmental disorder, X-linked syndromic, Snijders Blok type	semapv:ManualMappingCuration	2015-10-06
DOID:9002790	Elastosis Perforans Serpiginosa	skos:exactMatch	MIM:130100	ELASTOSIS PERFORANS SERPIGINOSA	semapv:ManualMappingCuration	
DOID:9002791	Microcephaly, Epilepsy, and Diabetes Syndrome	skos:exactMatch	MIM:PS614231	Microcephaly, epilepsy, and diabetes syndrome	semapv:ManualMappingCuration	
DOID:9002793	Camptodactyly 1	skos:exactMatch	MIM:114200	Camptodactyly 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002794	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES	skos:exactMatch	MIM:618731	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	semapv:ManualMappingCuration	2020-02-13
DOID:9002795	Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy	skos:exactMatch	MIM:615760	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy	semapv:ManualMappingCuration	2017-05-09
DOID:9002796	Benign Recurrent Vertigo 2	skos:exactMatch	MIM:613106	Vertigo, benign recurrent, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9002800	Infantile Polymyoclonus	skos:exactMatch	MIM:263550	POLYMYOCLONUS, INFANTILE	semapv:ManualMappingCuration	
DOID:9002805	Enterocolitis	skos:exactMatch	MIM:226150	ENTEROCOLITIS	semapv:ManualMappingCuration	
DOID:9002806	Acquired Pulmonary Alveolar Proteinosis	skos:exactMatch	MIM:610910	PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED	semapv:ManualMappingCuration	
DOID:9002807	Fryns Macrocephaly	skos:exactMatch	MIM:600302	FRYNS MACROCEPHALY	semapv:ManualMappingCuration	2022-12-06
DOID:9002809	Congenital Heart Defects, Multiple Types, 4	skos:exactMatch	MIM:615779	Congenital heart defects, multiple types, 4	semapv:ManualMappingCuration	2017-02-28
DOID:9002810	Gastrointestinal Defects and Immunodeficiency Syndrome 2	skos:exactMatch	MIM:619708	Gastrointestinal defects and immunodeficiency syndrome 2	semapv:ManualMappingCuration	2022-01-27
DOID:9002811	Facial Dysmorphism with Multiple Malformations	skos:exactMatch	MIM:227255	FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS	semapv:ManualMappingCuration	
DOID:9002812	Elevated Adenosine Triphosphate of Erythrocytes	skos:exactMatch	MIM:102900	[Adenosine triphosphate, elevated, of erythrocytes]	semapv:ManualMappingCuration	2017-10-03
DOID:9002815	Generalized Severe Epidermolysis Bullosa Simplex 2A	skos:exactMatch	MIM:619555	Epidermolysis bullosa simplex 2A, generalized severe	semapv:ManualMappingCuration	2021-11-03
DOID:9002816	CHOPRA-AMIEL-GORDON SYNDROME	skos:exactMatch	MIM:619504	Chopra-Amiel-Gordon syndrome	semapv:ManualMappingCuration	2021-10-15
DOID:9002821	Bifid Femur with Monodactylous Ectrodactyly	skos:exactMatch	MIM:228250	FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY	semapv:ManualMappingCuration	
DOID:9002829	Ciuffo Syndrome	skos:exactMatch	MIM:178650	PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES	semapv:ManualMappingCuration	
DOID:9002830	Spondylometaphyseal Dysplasia Pagnamenta Type	skos:exactMatch	MIM:619638	Spondylometaphyseal dysplasia, Pagnamenta type	semapv:ManualMappingCuration	2021-11-30
DOID:9002839	Rahman Syndrome	skos:exactMatch	MIM:617537	Rahman syndrome	semapv:ManualMappingCuration	2017-07-12
DOID:9002848	Familial Atrial Fibrillation 9	skos:exactMatch	MIM:613980	Atrial fibrillation, familial, 9	semapv:ManualMappingCuration	2014-09-02
DOID:9002852	Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders	skos:exactMatch	MIM:604363	MYOCLONIC EPILEPSY, CONGENITAL DEAFNESS, MACULAR DYSTROPHY, AND PSYCHIATRIC DISORDERS	semapv:ManualMappingCuration	
DOID:9002853	Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis	skos:exactMatch	MIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	semapv:ManualMappingCuration	2016-05-20
DOID:9002854	Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia	skos:exactMatch	MIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	semapv:ManualMappingCuration	2014-06-23
DOID:9002856	Cutaneous Telangiectasia and Cancer Syndrome, Familial	skos:exactMatch	MIM:614564	?Cutaneous telangiectasia and cancer syndrome, familial	semapv:ManualMappingCuration	2014-09-09
DOID:9002857	HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY	skos:exactMatch	MIM:PS616418	Hypomagnesemia, seizures, and impaired intellectual development 1	semapv:ManualMappingCuration	2019-03-26
DOID:9002859	Parkinson's Disease 13	skos:exactMatch	MIM:610297	{Parkinson disease 13}	semapv:ManualMappingCuration	2014-06-23
DOID:9002861	Capillary Malformation-Arteriovenous Malformation 2	skos:exactMatch	MIM:618196	Capillary malformation-arteriovenous malformation 2	semapv:ManualMappingCuration	2019-01-11
DOID:9002862	Craniosynostosis 3	skos:exactMatch	MIM:615314	Craniosynostosis 3	semapv:ManualMappingCuration	2014-09-09
DOID:9002865	Neonatal Hemochromatosis	skos:exactMatch	MIM:231100	HEMOCHROMATOSIS, NEONATAL	semapv:ManualMappingCuration	2017-10-03
DOID:9002866	Familial Multiple Coagulation Factor Deficiency II	skos:exactMatch	MIM:134510	FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF	semapv:ManualMappingCuration	
DOID:9002868	Lactate Dehydrogenase B Deficiency	skos:exactMatch	MIM:614128	[Lactate dehydrogenase-B deficiency]	semapv:ManualMappingCuration	2017-10-10
DOID:9002869	Schistosomiasis Mansoni	skos:exactMatch	MIM:181460	{Schistosoma mansoni infection, susceptibility/resistance to}	semapv:ManualMappingCuration	2017-10-03
DOID:9002870	Oocyte/Zygote/Embryo Maturation Arrest 20	skos:exactMatch	MIM:620383	Oocyte/zygote/embryo maturation arrest 20	semapv:ManualMappingCuration	2023-05-30
DOID:9002871	Erythema Palmare Hereditarium	skos:exactMatch	MIM:133000	ERYTHEMA PALMARE HEREDITARIUM	semapv:ManualMappingCuration	
DOID:9002874	Liver Fibrocystic Disease and Polydactyly	skos:exactMatch	MIM:605944	LIVER FIBROCYSTIC DISEASE AND POLYDACTYLY	semapv:ManualMappingCuration	
DOID:9002875	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN	skos:exactMatch	MIM:619769	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	semapv:ManualMappingCuration	2022-05-03
DOID:9002877	Parkinson's Disease, Mitochondrial	skos:exactMatch	MIM:556500	PARKINSON DISEASE, MITOCHONDRIAL	semapv:ManualMappingCuration	2017-10-10
DOID:9002882	Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency	skos:exactMatch	MIM:609016	HELLP syndrome, maternal, of pregnancy	semapv:ManualMappingCuration	2014-06-23
DOID:9002885	Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation	skos:exactMatch	MIM:603133	DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9002888	Duodenal Ulcer due to Antral G-Cell Hyperfunction	skos:exactMatch	MIM:126840	DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION	semapv:ManualMappingCuration	
DOID:9002890	Pseudohypoaldosteronism, Type IIA	skos:exactMatch	MIM:145260	Pseudohypoaldosteronism, type IIA	semapv:ManualMappingCuration	2018-02-02
DOID:9002891	Vitelliform Macular Dystrophy 2	skos:exactMatch	MIM:153700	Macular dystrophy, vitelliform, 2	semapv:ManualMappingCuration	2018-07-20
DOID:9002893	Taurodontia, Absent Teeth, Sparse Hair	skos:exactMatch	MIM:272980	TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR	semapv:ManualMappingCuration	
DOID:9002900	Autosomal Dominant Tubulointerstitial Kidney Disease 2	skos:exactMatch	MIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9002901	Ovarian Fibromata	skos:exactMatch	MIM:166970	OVARIAN FIBROMATA	semapv:ManualMappingCuration	
DOID:9002903	Tuftsin Deficiency	skos:exactMatch	MIM:191150	TUFTSIN DEFICIENCY	semapv:ManualMappingCuration	
DOID:9002905	EDICT Syndrome	skos:exactMatch	MIM:614303	EDICT syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9002910	Hearing Loss, Noise-Induced	skos:exactMatch	MIM:613035	HEARING LOSS, NOISE-INDUCED, SUSCEPTIBILITY TO	semapv:ManualMappingCuration	
DOID:9002911	Ruvalcaba Syndrome	skos:exactMatch	MIM:180870	RUVALCABA SYNDROME	semapv:ManualMappingCuration	
DOID:9002915	Ichthyosis with Erythrokeratoderma	skos:exactMatch	MIM:620507	Ichthyosis with erythrokeratoderma	semapv:ManualMappingCuration	2023-09-22
DOID:9002920	Bullous Dystrophy, Hereditary Macular Type	skos:exactMatch	MIM:302000	BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE	semapv:ManualMappingCuration	2017-10-03
DOID:9002921	Holoprosencephaly, Recurrent Infections, and Monocytosis	skos:exactMatch	MIM:610680	HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS	semapv:ManualMappingCuration	
DOID:9002923	Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones	skos:exactMatch	MIM:608154	LIPODYSTROPHY, GENERALIZED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT, DEAFNESS, SHORT STATURE, AND SLENDER BONES	semapv:ManualMappingCuration	
DOID:9002925	Narcolepsy 1	skos:exactMatch	MIM:161400	?Narcolepsy 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002926	Galloway-Mowat Syndrome 10	skos:exactMatch	MIM:619609	Galloway-Mowat syndrome 10	semapv:ManualMappingCuration	2021-11-15
DOID:9002931	Chondrocalcinosis due to Apatite Crystal Deposition	skos:exactMatch	MIM:118610	CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION	semapv:ManualMappingCuration	2018-08-22
DOID:9002932	Hairy Elbows	skos:exactMatch	MIM:139600	HAIRY ELBOWS	semapv:ManualMappingCuration	2022-11-29
DOID:9002933	Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 	skos:exactMatch	MIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	semapv:ManualMappingCuration	2019-02-26
DOID:9002938	Harding Ataxia	skos:exactMatch	MIM:212895	CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES	semapv:ManualMappingCuration	
DOID:9002941	Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate	skos:exactMatch	MIM:609250	HYPOTRICHOSIS, PROGRESSIVE PATTERNED SCALP, WITH WIRY HAIR, ONYCHOLYSIS, AND CLEFT LIP/PALATE	semapv:ManualMappingCuration	
DOID:9002942	Abdominal Chemodectomas with Cutaneous Angiolipomas	skos:exactMatch	MIM:118350	CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS	semapv:ManualMappingCuration	
DOID:9002945	Tremor of Intention, Ataxia, and Lipofuscinosis	skos:exactMatch	MIM:190200	TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS	semapv:ManualMappingCuration	2022-11-29
DOID:9002946	Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia	skos:exactMatch	MIM:604382	LISSENCEPHALY, FAMILIAL, WITH CLEFT PALATE AND CEREBELLAR HYPOPLASIA	semapv:ManualMappingCuration	
DOID:9002947	Aicardi-Goutieres Syndrome 9	skos:exactMatch	MIM:619487	Aicardi-Goutieres syndrome 9	semapv:ManualMappingCuration	2021-08-25
DOID:9002948	Storm Syndrome	skos:exactMatch	MIM:185069	STORM SYNDROME	semapv:ManualMappingCuration	2022-12-05
DOID:9002949	Dyskinesia with Orofacial Involvement, Autosomal Recessive	skos:exactMatch	MIM:619647	Dyskinesia with orofacial involvement, autosomal recessive	semapv:ManualMappingCuration	2022-02-04
DOID:9002950	Camera Marugo Cohen Syndrome	skos:exactMatch	MIM:604257	CAMERA-MARUGO-COHEN SYNDROME	semapv:ManualMappingCuration	
DOID:9002951	Primary Autosomal Recessive Microcephaly 27	skos:exactMatch	MIM:619180	Microcephaly 27, primary, autosomal dominant	semapv:ManualMappingCuration	2021-02-22
DOID:9002956	X-Linked Intellectual Developmental Disorder 95	skos:exactMatch	MIM:300716	Intellectual developmental disorder, X-linked 95	semapv:ManualMappingCuration	2017-10-03
DOID:9002957	CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	skos:exactMatch	MIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	semapv:ManualMappingCuration	2017-10-10
DOID:9002959	Deficient N-Hydroxylation of Amobarbital	skos:exactMatch	MIM:204800	AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF	semapv:ManualMappingCuration	
DOID:9002960	Impacted Tooth	skos:exactMatch	MIM:308280	IMPACTED TEETH, MULTIPLE	semapv:ManualMappingCuration	2022-12-06
DOID:9002961	Upington Disease	skos:exactMatch	MIM:191520	UPINGTON DISEASE	semapv:ManualMappingCuration	
DOID:9002962	Adams-Oliver Syndrome 2	skos:exactMatch	MIM:614219	Adams-Oliver syndrome 2	semapv:ManualMappingCuration	2014-09-02
DOID:9002963	Autosomal Recessive Intellectual Developmental Disorder 78	skos:exactMatch	MIM:620237	Intellectual developmental disorder, autosomal recessive 78	semapv:ManualMappingCuration	2023-02-10
DOID:9002964	Chronic Idiopathic Polyhydramnios	skos:exactMatch	MIM:263610	POLYHYDRAMNIOS, CHRONIC IDIOPATHIC	semapv:ManualMappingCuration	
DOID:9002968	Muscular Dystrophy, Barnes Type	skos:exactMatch	MIM:158800	MUSCULAR DYSTROPHY, BARNES TYPE	semapv:ManualMappingCuration	2018-08-21
DOID:9002970	Tetralogy of Fallot and Glaucoma	skos:exactMatch	MIM:187501	TETRALOGY OF FALLOT AND GLAUCOMA	semapv:ManualMappingCuration	
DOID:9002971	Myxomatous Mitral Valve Prolapse 2	skos:exactMatch	MIM:607829	Mitral valve prolapse 2	semapv:ManualMappingCuration	2017-10-03
DOID:9002972	Trichilemmal Cyst	skos:exactMatch	MIM:609649	Trichilemmal cyst 1	semapv:ManualMappingCuration	2017-10-03
DOID:9002973	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 10	skos:exactMatch	MIM:619396	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10}	semapv:ManualMappingCuration	2022-11-14
DOID:9002974	Weismann Netter Syndrome	skos:exactMatch	MIM:112350	WEISMANN-NETTER SYNDROME	semapv:ManualMappingCuration	
DOID:9002975	Familial Cardiac Lipidosis	skos:exactMatch	MIM:212080	CARDIAC LIPIDOSIS, FAMILIAL	semapv:ManualMappingCuration	
DOID:9002976	Duplication of Eyebrows with Stretchable Skin and Syndactyly	skos:exactMatch	MIM:227210	EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY	semapv:ManualMappingCuration	
DOID:9002979	Anal Atresia, Hypospadias, and Penoscrotal Inversion	skos:exactMatch	MIM:602553	ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION	semapv:ManualMappingCuration	
DOID:9002980	Velofacioskeletal Syndrome	skos:exactMatch	MIM:600736	VELOFACIOSKELETAL SYNDROME	semapv:ManualMappingCuration	
DOID:9002983	Distal Arthrogryposis, Type 2E	skos:exactMatch	MIM:121070	ARTHROGRYPOSIS, DISTAL, TYPE 2E	semapv:ManualMappingCuration	2018-08-22
DOID:9002991	Keutel Syndrome	skos:exactMatch	MIM:245150	Keutel syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9002993	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH	skos:exactMatch	MIM:619323	Neurodevelopmental disorder with seizures and gingival overgrowth	semapv:ManualMappingCuration	2021-08-16
DOID:9002995	Conductive Stapedial Deafness with Ear Malformation and Facial Palsy	skos:exactMatch	MIM:124490	DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY	semapv:ManualMappingCuration	
DOID:9002996	Familial Atrial Fibrillation 13	skos:exactMatch	MIM:615377	Atrial fibrillation, familial, 13	semapv:ManualMappingCuration	2015-06-17
DOID:9002998	Weill-Marchesani Syndrome 1	skos:exactMatch	MIM:277600	Weill-Marchesani syndrome 1, recessive	semapv:ManualMappingCuration	2017-10-03
DOID:9002999	Microphthalmia/Coloboma 7	skos:exactMatch	MIM:614497	Microphthalmia/coloboma 7	semapv:ManualMappingCuration	2014-09-09
DOID:9003005	Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia	skos:exactMatch	MIM:211930	CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA	semapv:ManualMappingCuration	
DOID:9003006	Ventricular Septal Defect 3	skos:exactMatch	MIM:614432	Ventricular septal defect 3	semapv:ManualMappingCuration	2014-09-02
DOID:9003007	Mitochondrial Complex II Deficiency Nuclear Type 3	skos:exactMatch	MIM:619167	Mitochondrial complex II deficiency, nuclear type 3	semapv:ManualMappingCuration	2021-02-01
DOID:9003011	CAMFAK Syndrome	skos:exactMatch	MIM:212540	CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME	semapv:ManualMappingCuration	
DOID:9003013	Neurodevelopmental Disorder with Alopecia and Brain Abnormalities	skos:exactMatch	MIM:619075	Bachmann-Bupp syndrome	semapv:ManualMappingCuration	2020-11-02
DOID:9003016	Aminoacylase 1 Deficiency	skos:exactMatch	MIM:609924	Aminoacylase 1 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9003017	Say-Barber-Miller Syndrome	skos:exactMatch	MIM:251240	MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA	semapv:ManualMappingCuration	2024-09-10
DOID:9003018	Halothane Hepatitis	skos:exactMatch	MIM:234350	HALOTHANE HEPATITIS	semapv:ManualMappingCuration	
DOID:9003019	Mercaptolactate-Cysteine Disulfiduria	skos:exactMatch	MIM:249650	MERCAPTOLACTATE-CYSTEINE DISULFIDURIA	semapv:ManualMappingCuration	
DOID:9003021	Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum	skos:exactMatch	MIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	semapv:ManualMappingCuration	2019-02-26
DOID:9003022	Short Stature-Obesity Syndrome	skos:exactMatch	MIM:269870	SHORT STATURE-OBESITY SYNDROME	semapv:ManualMappingCuration	2022-12-05
DOID:9003025	Cerebroretinal Microangiopathy with Calcifications and Cysts	skos:exactMatch	MIM:PS612199	Cerebroretinal microangiopathy with calcifications and cysts	semapv:ManualMappingCuration	2019-05-01
DOID:9003027	Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation	skos:exactMatch	MIM:603572	MICROCEPHALY, FACIAL ABNORMALITIES, MICROMELIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9003028	Glaucoma 1, Open Angle, K	skos:exactMatch	MIM:608696	Glaucoma 1K, primary open angle, juvenile-onset	semapv:ManualMappingCuration	2017-10-03
DOID:9003030	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis	skos:exactMatch	MIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	semapv:ManualMappingCuration	2014-09-09
DOID:9003033	Familial Joint Laxity	skos:exactMatch	MIM:147900	JOINT LAXITY, FAMILIAL	semapv:ManualMappingCuration	
DOID:9003035	Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease	skos:exactMatch	MIM:124950	DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE	semapv:ManualMappingCuration	
DOID:9003038	X Inactivation, Familial Skewed, 2	skos:exactMatch	MIM:300179	X inactivation, familial skewed, 2	semapv:ManualMappingCuration	
DOID:9003039	Immunodeficiency 76	skos:exactMatch	MIM:619164	Immunodeficiency 76	semapv:ManualMappingCuration	2021-02-12
DOID:9003041	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	skos:exactMatch	MIM:615938	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	semapv:ManualMappingCuration	2017-01-31
DOID:9003044	Selective Tooth Agenesis 10	skos:exactMatch	MIM:620173	Tooth agenesis, selective, 10	semapv:ManualMappingCuration	2022-12-21
DOID:9003046	Braddock-Carey Syndrome 1	skos:exactMatch	MIM:619980	Braddock-Carey syndrome 1	semapv:ManualMappingCuration	2022-08-01
DOID:9003047	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES	skos:exactMatch	MIM:618727	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic	semapv:ManualMappingCuration	2021-08-12
DOID:9003048	Hypophosphatemic Rickets and Hyperparathyroidism	skos:exactMatch	MIM:612089	Hypophosphatemic rickets and hyperparathyroidism	semapv:ManualMappingCuration	2017-10-03
DOID:9003049	Femur Head Necrosis	skos:exactMatch	MIM:608805	Avascular necrosis of the femoral head	semapv:ManualMappingCuration	2017-10-03
DOID:9003049	Femur Head Necrosis	skos:exactMatch	MIM:617383	?Avascular necrosis of femoral head, primary, 2	semapv:ManualMappingCuration	2017-10-10
DOID:9003050	Multiple Exostoses Type I	skos:exactMatch	MIM:133700	Exostoses, multiple, type 1	semapv:ManualMappingCuration	2014-06-23
DOID:9003052	Multinodular Goiter 2	skos:exactMatch	MIM:300273	Goiter, multinodular, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9003053	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME	skos:exactMatch	MIM:619534	Biliary, renal, neurologic, and skeletal syndrome	semapv:ManualMappingCuration	2021-12-07
DOID:9003055	Mitochondrial Complex II Deficiency Nuclear Type 1	skos:exactMatch	MIM:252011	Mitochondrial complex II deficiency, nuclear type 1	semapv:ManualMappingCuration	2017-10-03
DOID:9003056	Short-Rib Thoracic Dysplasia 20 with Polydactyly	skos:exactMatch	MIM:617925	?Short-rib thoracic dysplasia 20 with polydactyly	semapv:ManualMappingCuration	2018-06-01
DOID:9003059	Kifafa Seizure Disorder	skos:exactMatch	MIM:245180	KIFAFA SEIZURE DISORDER	semapv:ManualMappingCuration	
DOID:9003062	Jones Syndrome	skos:exactMatch	MIM:135550	FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS	semapv:ManualMappingCuration	
DOID:9003064	Bork Stender Schmidt Syndrome	skos:exactMatch	MIM:191482	UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY	semapv:ManualMappingCuration	2022-12-05
DOID:9003067	Cervical Hypertrichosis with Underlying Kyphoscoliosis	skos:exactMatch	MIM:117850	CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS	semapv:ManualMappingCuration	
DOID:9003068	Familial Frontonasal Dermoid Cysts	skos:exactMatch	MIM:600679	DERMOID CYSTS, FAMILIAL FRONTONASAL	semapv:ManualMappingCuration	
DOID:9003069	Tessadori-van Haaften Neurodevelopmental Syndrome 3	skos:exactMatch	MIM:619950	Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3	semapv:ManualMappingCuration	2022-07-18
DOID:9003070	Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature	skos:exactMatch	MIM:609037	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY, AND SHORT STATURE	semapv:ManualMappingCuration	
DOID:9003071	Postaxial Polydactyly	skos:exactMatch	MIM:PS174200	Polydactyly, postaxial, types A1 and B	semapv:ManualMappingCuration	2019-10-07
DOID:9003075	Lamellar Ichthyosis, Autosomal Dominant Form	skos:exactMatch	MIM:146750	Ichthyosis, lamellar, autosomal dominant	semapv:ManualMappingCuration	
DOID:9003076	Porokeratosis 9, Multiple Types	skos:exactMatch	MIM:616631	Porokeratosis 9, multiple types	semapv:ManualMappingCuration	2015-12-08
DOID:9003077	Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay	skos:exactMatch	MIM:188201	THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY	semapv:ManualMappingCuration	
DOID:9003079	Dowling-Degos Disease 4	skos:exactMatch	MIM:615696	Dowling-Degos disease 4	semapv:ManualMappingCuration	2014-09-09
DOID:9003081	Growth Retardation, Developmental Delay, Coarse Facies, and Early Death	skos:exactMatch	MIM:612938	Growth retardation, developmental delay, facial dysmorphism	semapv:ManualMappingCuration	2017-10-03
DOID:9003082	Ribbing Disease	skos:exactMatch	MIM:601477	RIBBING DISEASE	semapv:ManualMappingCuration	
DOID:9003084	Primary Autosomal Recessive Microcephaly 25	skos:exactMatch	MIM:618351	?Microcephaly 25, primary, autosomal recessive	semapv:ManualMappingCuration	2019-03-12
DOID:9003086	Congenital Nystagmus 8	skos:exactMatch	MIM:257400	?Nystagmus 8, congenital, autosomal recessive	semapv:ManualMappingCuration	2023-04-07
DOID:9003087	Al Kaissi Syndrome	skos:exactMatch	MIM:617694	Al Kaissi syndrome	semapv:ManualMappingCuration	2017-11-13
DOID:9003089	Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1	skos:exactMatch	MIM:605594	Deafness, autosomal dominant 39, with dentinogenesis	semapv:ManualMappingCuration	2017-10-03
DOID:9003090	Hyperreninemic Hypoaldosteronism, Familial, 2	skos:exactMatch	MIM:606984	HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 2	semapv:ManualMappingCuration	
DOID:9003093	Ectodermal Dysplasia, Trichoodontoonychial Type	skos:exactMatch	MIM:129510	ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE	semapv:ManualMappingCuration	
DOID:9003096	Keratoconus 4	skos:exactMatch	MIM:609271	Keratoconus 4	semapv:ManualMappingCuration	2017-10-03
DOID:9003097	Benign Familial Hematuria 2	skos:exactMatch	MIM:620320	Hematuria, benign familial, 2	semapv:ManualMappingCuration	2023-04-14
DOID:9003098	Taurodontism	skos:exactMatch	MIM:272700	TAURODONTISM	semapv:ManualMappingCuration	
DOID:9003109	Benign Familial Neonatal Seizures, 2	skos:exactMatch	MIM:121201	Seizures, benign neonatal, 2	semapv:ManualMappingCuration	2014-06-23
DOID:9003110	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME	skos:exactMatch	MIM:618877	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	semapv:ManualMappingCuration	2020-07-10
DOID:9003111	Growth Retardation, Small and Puffy Hands and Feet, and Eczema	skos:exactMatch	MIM:233810	GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA	semapv:ManualMappingCuration	
DOID:9003114	Reynolds Syndrome	skos:exactMatch	MIM:613471	?Reynolds syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:9003116	Muscle Cramps, Familial	skos:exactMatch	MIM:158400	MUSCLE CRAMPS, FAMILIAL	semapv:ManualMappingCuration	2022-11-29
DOID:9003116	Muscle Cramps, Familial	skos:exactMatch	MIM:218050	CRAMPS, FAMILIAL ADOLESCENT	semapv:ManualMappingCuration	
DOID:9003118	Testicular Germ Cell Tumor 1	skos:exactMatch	MIM:300228	Testicular germ cell tumor	semapv:ManualMappingCuration	2017-10-03
DOID:9003120	Hirschsprung Disease with Type D Brachydactyly	skos:exactMatch	MIM:306980	HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY	semapv:ManualMappingCuration	2022-11-21
DOID:9003124	Labrune Syndrome	skos:exactMatch	MIM:614561	Leukoencephalopathy, brain calcifications, and cysts	semapv:ManualMappingCuration	2017-10-10
DOID:9003127	Skin/Hair/Eye Pigmentation, Variation In, 11	skos:exactMatch	MIM:612271	[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)]	semapv:ManualMappingCuration	2014-10-20
DOID:9003130	Russell-Silver Syndrome, X-Linked	skos:exactMatch	MIM:312780	RUSSELL-SILVER SYNDROME, X-LINKED	semapv:ManualMappingCuration	2022-12-06
DOID:9003133	Hypertelorism	skos:exactMatch	MIM:145400	HYPERTELORISM	semapv:ManualMappingCuration	
DOID:9003136	Familial Acne Inversa 1	skos:exactMatch	MIM:142690	Acne inversa, familial, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9003138	Familial Multiple Coagulation Factor Deficiency VI	skos:exactMatch	MIM:134540	FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF	semapv:ManualMappingCuration	
DOID:9003143	Hyperparathyroidism 4	skos:exactMatch	MIM:617343	Hyperparathyroidism 4	semapv:ManualMappingCuration	2017-10-10
DOID:9003145	Nuchal Bleb, Familial	skos:exactMatch	MIM:257350	NUCHAL BLEB, FAMILIAL	semapv:ManualMappingCuration	2018-05-23
DOID:9003148	Familial Dwarfism with Muscle Spasms	skos:exactMatch	MIM:600771	DWARFISM, FAMILIAL, WITH MUSCLE SPASMS	semapv:ManualMappingCuration	2022-12-06
DOID:9003149	2-Methylbutyryl-CoA Dehydrogenase Deficiency	skos:exactMatch	MIM:610006	2-methylbutyrylglycinuria	semapv:ManualMappingCuration	2017-10-03
DOID:9003152	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES	skos:exactMatch	MIM:618821	Rhizomelic limb shortening with dysmorphic features	semapv:ManualMappingCuration	2020-08-17
DOID:9003153	FUCOSYLTRANSFERASE 6 DEFICIENCY	skos:exactMatch	MIM:613852	[Fucosyltransferase 6 deficiency]	semapv:ManualMappingCuration	2017-02-17
DOID:9003159	Nonsyndromic Deafness, Modifier 1	skos:exactMatch	MIM:605429	{?Deafness, autosomal recessive 26, modifier of}	semapv:ManualMappingCuration	2014-06-23
DOID:9003160	Pancytopenia and Occlusive Vascular Disease	skos:exactMatch	MIM:167850	PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE	semapv:ManualMappingCuration	
DOID:9003162	Congenital Sulfhemoglobinemia	skos:exactMatch	MIM:185460	SULFHEMOGLOBINEMIA, CONGENITAL	semapv:ManualMappingCuration	
DOID:9003163	Heart Block	skos:exactMatch	MIM:209600	ATRIOVENTRICULAR DISSOCIATION	semapv:ManualMappingCuration	
DOID:9003164	Hereditary Essential Tremor and Idiopathic Normal Pressure Hydrocephalus	skos:exactMatch	MIM:611808	TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS	semapv:ManualMappingCuration	2022-10-31
DOID:9003169	Presenile Dementia, Kraepelin Type	skos:exactMatch	MIM:176600	PRESENILE DEMENTIA, KRAEPELIN TYPE	semapv:ManualMappingCuration	2022-11-28
DOID:9003170	Mungan Syndrome	skos:exactMatch	MIM:611376	?Mungan syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9003172	X-Linked Modifier for Neurofunctional Defects	skos:exactMatch	MIM:309840	MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS	semapv:ManualMappingCuration	2022-11-08
DOID:9003174	Second Metatarsal-Metacarpal Syndrome	skos:exactMatch	MIM:269630	SECOND METATARSAL-METACARPAL SYNDROME	semapv:ManualMappingCuration	
DOID:9003176	Familial Melanoma, Malignant Intraocular	skos:exactMatch	MIM:155700	MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR	semapv:ManualMappingCuration	
DOID:9003177	Kowarski Syndrome	skos:exactMatch	MIM:262650	Kowarski syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9003178	Familial Platelet Disorder with Associated Myeloid Malignancy	skos:exactMatch	MIM:601399	Platelet disorder, familial, with associated myeloid malignancy	semapv:ManualMappingCuration	2017-10-03
DOID:9003180	Chronic Diarrhea with Villous Atrophy	skos:exactMatch	MIM:520100	DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY	semapv:ManualMappingCuration	2022-12-05
DOID:9003182	Parenti-Mignot Neurodevelopmental Syndrome	skos:exactMatch	MIM:619873	Parenti-Mignot neurodevelopmental syndrome	semapv:ManualMappingCuration	2022-11-14
DOID:9003187	Spinocerebellar Atrophy with Pupillary Paralysis	skos:exactMatch	MIM:183100	SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS	semapv:ManualMappingCuration	
DOID:9003190	Nguyen Syndrome	skos:exactMatch	MIM:609643	NGUYEN SYNDROME	semapv:ManualMappingCuration	
DOID:9003193	Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction	skos:exactMatch	MIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	semapv:ManualMappingCuration	2019-03-15
DOID:9003195	Hereditary Angioedema 7	skos:exactMatch	MIM:619366	?Angioedema, hereditary, 7	semapv:ManualMappingCuration	2021-06-11
DOID:9003205	Heart-Hand Syndrome, Slovenian Type	skos:exactMatch	MIM:610140	Heart-hand syndrome, Slovenian type	semapv:ManualMappingCuration	2017-10-03
DOID:9003206	Renal Dysplasia - Limb Defects Syndrome	skos:exactMatch	MIM:266910	RENAL DYSPLASIA-LIMB DEFECTS SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9003207	Fibrinolytic Defect	skos:exactMatch	MIM:134900	FIBRINOLYTIC DEFECT	semapv:ManualMappingCuration	
DOID:9003212	Visceral Heterotaxy 6, Autosomal	skos:exactMatch	MIM:614779	Heterotaxy, visceral, 6, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:9003213	Familial Synovial Chondromatosis with Dwarfism	skos:exactMatch	MIM:186575	SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM	semapv:ManualMappingCuration	
DOID:9003214	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative	skos:exactMatch	MIM:600802	Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type	semapv:ManualMappingCuration	2017-10-03
DOID:9003217	Prepapillary Vascular Loops	skos:exactMatch	MIM:264060	PREPAPILLARY VASCULAR LOOPS	semapv:ManualMappingCuration	
DOID:9003220	Immunodeficiency due to Ficolin 3 Deficiency	skos:exactMatch	MIM:613860	Immunodeficiency due to ficolin 3 deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:9003221	Progressive Mucinous Histiocytosis	skos:exactMatch	MIM:142630	HISTIOCYTOSIS, PROGRESSIVE MUCINOUS	semapv:ManualMappingCuration	
DOID:9003224	Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features	skos:exactMatch	MIM:609944	ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES	semapv:ManualMappingCuration	
DOID:9003225	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME	skos:exactMatch	MIM:618914	Neurodevelopmental, jaw, eye, and digital syndrome	semapv:ManualMappingCuration	2020-11-09
DOID:9003229	Rh-Null Disease, Amorph Type	skos:exactMatch	MIM:111700	Rh-null disease, amorph type	semapv:ManualMappingCuration	2018-08-31
DOID:9003229	Rh-Null Disease, Amorph Type	skos:exactMatch	MIM:617970	Rh-null disease, amorph type	semapv:ManualMappingCuration	2018-06-19
DOID:9003234	Hypertensive Nephropathy	skos:exactMatch	MIM:608026	Hypertensive nephropathy	semapv:ManualMappingCuration	2017-10-03
DOID:9003235	Trichodental Syndrome	skos:exactMatch	MIM:601453	TRICHODENTAL DYSPLASIA	semapv:ManualMappingCuration	
DOID:9003239	Femoral Facial Syndrome	skos:exactMatch	MIM:134780	FEMORAL-FACIAL SYNDROME	semapv:ManualMappingCuration	
DOID:9003241	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME	skos:exactMatch	MIM:619680	Marbach-Schaaf neurodevelopmental syndrome	semapv:ManualMappingCuration	2022-02-08
DOID:9003245	Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency	skos:exactMatch	MIM:610842	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9003249	Glycosylphosphatidylinositol Biosynthesis Defect 17	skos:exactMatch	MIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17	semapv:ManualMappingCuration	2018-12-06
DOID:9003250	Cardioacrofacial Dysplasia 2	skos:exactMatch	MIM:619143	Cardioacrofacial dysplasia 2	semapv:ManualMappingCuration	2021-01-04
DOID:9003251	CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES	skos:exactMatch	MIM:617643	Cerebellar atrophy, developmental delay, and seizures	semapv:ManualMappingCuration	2017-11-30
DOID:9003254	Genetic Nondisjunction	skos:exactMatch	MIM:158250	NONDISJUNCTION	semapv:ManualMappingCuration	2022-11-29
DOID:9003255	Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias	skos:exactMatch	MIM:619846	?Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias	semapv:ManualMappingCuration	2022-04-28
DOID:9003256	Adrenocortical Unresponsiveness to Acth with Postreceptor Defect	skos:exactMatch	MIM:202355	ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT	semapv:ManualMappingCuration	
DOID:9003258	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS	skos:exactMatch	MIM:619576	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	semapv:ManualMappingCuration	2021-12-07
DOID:9003259	Marles Greenberg Persaud Syndrome	skos:exactMatch	MIM:248450	Manitoba oculotrichoanal syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9003260	Familial Hemiplegic Migraine 4	skos:exactMatch	MIM:607516	{Migraine with or without aura, susceptibility to, 6}	semapv:ManualMappingCuration	2016-05-09
DOID:9003264	Mirhosseini-Holmes-Walton Syndrome	skos:exactMatch	MIM:268050	MIRHOSSEINI-HOLMES-WALTON SYNDROME	semapv:ManualMappingCuration	
DOID:9003265	Spondylocamptodactyly	skos:exactMatch	MIM:600000	SPONDYLOCAMPTODACTYLY	semapv:ManualMappingCuration	
DOID:9003267	Campomelia Cumming Type	skos:exactMatch	MIM:211890	CAMPOMELIA, CUMMING TYPE	semapv:ManualMappingCuration	
DOID:9003268	Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal	skos:exactMatch	MIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	semapv:ManualMappingCuration	2014-09-09
DOID:9003269	Sudden Cardiac Failure, Infantile	skos:exactMatch	MIM:617222	Sudden cardiac failure, infantile	semapv:ManualMappingCuration	2017-10-10
DOID:9003270	Microtia-Anotia	skos:exactMatch	MIM:600674	MICROTIA-ANOTIA	semapv:ManualMappingCuration	2017-10-03
DOID:9003272	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11	skos:exactMatch	MIM:619441	{Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}	semapv:ManualMappingCuration	2021-07-27
DOID:9003275	Hypokalemic Tubulopathy and Deafness	skos:exactMatch	MIM:619406	Hypokalemic tubulopathy and deafness	semapv:ManualMappingCuration	2021-08-23
DOID:9003282	Hyperproinsulinemia	skos:exactMatch	MIM:616214	Hyperproinsulinemia	semapv:ManualMappingCuration	2017-10-10
DOID:9003283	Transcobalamin I Deficiency	skos:exactMatch	MIM:193090	TRANSCOBALAMIN I DEFICIENCY	semapv:ManualMappingCuration	2022-10-31
DOID:9003285	Odontotrichoungual-Digital-Palmar Syndrome	skos:exactMatch	MIM:601957	ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME	semapv:ManualMappingCuration	
DOID:9003288	Lethal Congenital Contracture Syndrome 10	skos:exactMatch	MIM:617022	Lethal congenital contracture syndrome 10	semapv:ManualMappingCuration	2017-05-01
DOID:9003289	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM	skos:exactMatch	MIM:620250	Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum	semapv:ManualMappingCuration	2023-05-04
DOID:9003290	Otofacioosseous-Gonadal Syndrome	skos:exactMatch	MIM:601976	OTOFACIOOSSEOUS-GONADAL SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9003293	Li-Campeau Syndrome	skos:exactMatch	MIM:619189	Li-Campeau syndrome	semapv:ManualMappingCuration	2021-02-19
DOID:9003298	Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to	skos:exactMatch	MIM:614164	Hemolytic anemia due to glutathione peroxidase deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:9003299	Short Limb Dwarfism Al Gazali Type	skos:exactMatch	MIM:601356	LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE	semapv:ManualMappingCuration	
DOID:9003300	Remitting Chorea with Nystagmus and Cataracts	skos:exactMatch	MIM:601372	CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT	semapv:ManualMappingCuration	
DOID:9003301	Micromelic Dwarfism Fryns Type	skos:exactMatch	MIM:601096	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC	semapv:ManualMappingCuration	
DOID:9003302	Monosomy 7 Myelodysplasia and Leukemia Syndrome 2	skos:exactMatch	MIM:619041	Monosomy 7 myelodysplasia and leukemia syndrome 2	semapv:ManualMappingCuration	2020-12-11
DOID:9003305	X-Linked Thrombophilia due to Factor VIII Defect	skos:exactMatch	MIM:301071	Thrombophilia 13, X-linked, due to factor VIII defect	semapv:ManualMappingCuration	2022-02-28
DOID:9003306	Hair Defect with Photosensitivity and Mental Retardation	skos:exactMatch	MIM:234030	HAIR DEFECT WITH PHOTOSENSITIVITY AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9003308	Congenital Hypomyelinating Neuropathy 3	skos:exactMatch	MIM:618186	Hypomyelinating neuropathy, congenital, 3	semapv:ManualMappingCuration	2019-01-11
DOID:9003310	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION	skos:exactMatch	MIM:619644	Immunodeficiency 91 and hyperinflammation	semapv:ManualMappingCuration	2022-02-08
DOID:9003312	Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency	skos:exactMatch	MIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:9003313	Occipital Cortical Malformations	skos:exactMatch	MIM:614115	Cortical malformations, occipital	semapv:ManualMappingCuration	2014-09-09
DOID:9003317	Mitochondrial Form of Axonal Charcot-Marie-Tooth Disease 1	skos:exactMatch	MIM:500013	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL FORM, 1	semapv:ManualMappingCuration	2021-01-14
DOID:9003318	Keratoconus 1	skos:exactMatch	MIM:148300	Keratoconus 1	semapv:ManualMappingCuration	2017-10-03
DOID:9003319	Pronation-Supination Of The Forearm, Impairment Of	skos:exactMatch	MIM:176800	PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF	semapv:ManualMappingCuration	
DOID:9003320	Myofibrillar Myopathy 12	skos:exactMatch	MIM:619424	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	semapv:ManualMappingCuration	2021-08-06
DOID:9003322	Familial Atrial Fibrillation 5	skos:exactMatch	MIM:611494	{Atrial fibrillation, familial, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:9003323	Multifocal Fibromuscular Dysplasia	skos:exactMatch	MIM:619329	Fibromuscular dysplasia, multifocal	semapv:ManualMappingCuration	2021-05-19
DOID:9003325	Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency	skos:exactMatch	MIM:600351	ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY	semapv:ManualMappingCuration	
DOID:9003326	Perrault Syndrome 1	skos:exactMatch	MIM:233400	Perrault syndrome 1	semapv:ManualMappingCuration	2014-10-20
DOID:9003330	Papillary Thyroid Carcinoma, with Papillary Renal Neoplasia	skos:exactMatch	MIM:605642	Thyroid carcinoma, papillary, with papillary renal neoplasia	semapv:ManualMappingCuration	2017-10-03
DOID:9003331	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	skos:exactMatch	MIM:619362	?Megacystis-microcolon-intestinal hypoperistalsis syndrome 3	semapv:ManualMappingCuration	2021-06-03
DOID:9003332	Charcot-Marie-Tooth Disease Type 4A, Axonal Form	skos:exactMatch	MIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis	semapv:ManualMappingCuration	2014-06-23
DOID:9003336	Neonatal Zinc Deficiency due to Low Breast Milk Zinc	skos:exactMatch	MIM:608118	Zinc deficiency, transient neonatal	semapv:ManualMappingCuration	2014-10-20
DOID:9003337	Multilocular Encephalomalacia	skos:exactMatch	MIM:225700	ENCEPHALOMALACIA, MULTILOCULAR	semapv:ManualMappingCuration	2022-12-06
DOID:9003339	Radiculoneuropathy, Fatal Neonatal	skos:exactMatch	MIM:266250	RADICULONEUROPATHY, FATAL NEONATAL	semapv:ManualMappingCuration	
DOID:9003341	Vesicoureteral Reflux 7	skos:exactMatch	MIM:615390	Vesicoureteral reflux 7	semapv:ManualMappingCuration	2017-10-03
DOID:9003344	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES	skos:exactMatch	MIM:617532	Intellectual developmental disorder with neuropsychiatric features	semapv:ManualMappingCuration	2017-07-11
DOID:9003346	Distal Myopathy 7	skos:exactMatch	MIM:301075	Myopathy, distal, 7, adult-onset, X-linked	semapv:ManualMappingCuration	2022-04-18
DOID:9003348	Congenital Generalized Lipodystrophy Type 5	skos:exactMatch	MIM:620680	Lipodystrophy, congenital generalized, type 5	semapv:ManualMappingCuration	2024-01-19
DOID:9003349	Rothmund-Thomson Syndrome Type 1	skos:exactMatch	MIM:618625	Rothmund-Thomson syndrome, type 1	semapv:ManualMappingCuration	2019-10-18
DOID:9003350	Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly	skos:exactMatch	MIM:604211	HIRSCHSPRUNG DISEASE WITH HEART DEFECTS, LARYNGEAL ANOMALIES, AND PREAXIAL POLYDACTYLY	semapv:ManualMappingCuration	2022-12-06
DOID:9003353	Systemic Lupus Erythematosus 16	skos:exactMatch	MIM:614420	Systemic lupus erythematosus 16	semapv:ManualMappingCuration	2014-09-02
DOID:9003354	Acropectorovertebral Dysplasia	skos:exactMatch	MIM:102510	Acropectorovertebral dysplasia	semapv:ManualMappingCuration	2014-06-23
DOID:9003361	CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET	skos:exactMatch	MIM:619871	Corneal dystrophy, punctiform and polychromatic pre-Descemet	semapv:ManualMappingCuration	2022-06-13
DOID:9003365	Usher Syndrome Type 1B	skos:exactMatch	MIM:276900	Usher syndrome, type 1B	semapv:ManualMappingCuration	2017-10-03
DOID:9003367	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy	skos:exactMatch	MIM:608278	GROWTH FAILURE, MICROCEPHALY, IMPAIRED INTELLECTUAL DEVELOPMENT, CATARACTS, LARGE JOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLAR ATROPHY	semapv:ManualMappingCuration	
DOID:9003371	Cerebroretinal Microangiopathy with Calcifications and Cysts 1	skos:exactMatch	MIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	semapv:ManualMappingCuration	2017-10-10
DOID:9003372	LESSEL-KREIENKAMP SYNDROME	skos:exactMatch	MIM:619149	Lessel-Kreienkamp syndrome	semapv:ManualMappingCuration	2021-02-15
DOID:9003373	Uterine Cervical Neoplasms	skos:exactMatch	MIM:603956	Cervical cancer, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:9003374	Autosomal Recessive Cutis Laxa Type IIE	skos:exactMatch	MIM:619451	Cutis laxa, autosomal recessive, type IIE	semapv:ManualMappingCuration	2021-07-27
DOID:9003375	Glutamyl Ribose-5-Phosphate Storage Disease	skos:exactMatch	MIM:305920	GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE	semapv:ManualMappingCuration	
DOID:9003384	Spinal Muscular Atrophy with Mental Retardation	skos:exactMatch	MIM:271109	SPINAL MUSCULAR ATROPHY WITH IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9003385	Hairy Ears	skos:exactMatch	MIM:139500	HAIRY EARS	semapv:ManualMappingCuration	
DOID:9003386	Sunburn	skos:exactMatch	MIM:611742	[Skin/hair/eye pigmentation 9, dark/light hair]	semapv:ManualMappingCuration	2022-12-12
DOID:9003388	ALFADHEL SYNDROME	skos:exactMatch	MIM:620655	Alfadhel syndrome	semapv:ManualMappingCuration	2024-01-16
DOID:9003390	Thrombocytopenia 2	skos:exactMatch	MIM:188000	Thrombocytopenia 2	semapv:ManualMappingCuration	2014-06-23
DOID:9003395	Type 2 Diabetes Mellitus 2	skos:exactMatch	MIM:601407	Diabetes mellitus, noninsulin-dependent, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9003396	Multiple Noduli Cutanei with Urinary Tract Abnormalities	skos:exactMatch	MIM:163850	NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES	semapv:ManualMappingCuration	
DOID:9003397	Atrioventricular Septal Defect 5	skos:exactMatch	MIM:614474	Atrioventricular septal defect 5	semapv:ManualMappingCuration	2014-09-02
DOID:9003398	Focal Facial Dermal Dysplasia 3	skos:exactMatch	MIM:227260	Focal facial dermal dysplasia 3, Setleis type	semapv:ManualMappingCuration	2014-10-20
DOID:9003401	Hardikar Syndrome	skos:exactMatch	MIM:301068	Hardikar syndrome	semapv:ManualMappingCuration	2019-11-27
DOID:9003402	Macrosomia Obesity Macrocephaly Ocular Abnormalities	skos:exactMatch	MIM:157980	MOMO SYNDROME	semapv:ManualMappingCuration	
DOID:9003404	Bornholm Eye Disease	skos:exactMatch	MIM:300843	Bornholm eye disease	semapv:ManualMappingCuration	2017-10-03
DOID:9003408	Prepubertal Familial Idiopathic Edema	skos:exactMatch	MIM:129840	EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL	semapv:ManualMappingCuration	
DOID:9003410	Novelty Seeking Personality Trait	skos:exactMatch	MIM:601696	NOVELTY SEEKING PERSONALITY TRAIT	semapv:ManualMappingCuration	2014-06-23
DOID:9003412	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2	skos:exactMatch	MIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	semapv:ManualMappingCuration	2017-12-11
DOID:9003415	Keratoconus 9	skos:exactMatch	MIM:617928	Keratoconus 9	semapv:ManualMappingCuration	2017-10-03
DOID:9003422	Thyroid Cancer, Nonmedullary, 4	skos:exactMatch	MIM:616534	{Thyroid cancer, nonmedullary, 4}	semapv:ManualMappingCuration	2018-04-12
DOID:9003425	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS	skos:exactMatch	MIM:619194	Neurofacioskeletal syndrome with or without renal agenesis	semapv:ManualMappingCuration	2021-03-15
DOID:9003429	Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques	skos:exactMatch	MIM:125320	DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES	semapv:ManualMappingCuration	
DOID:9003430	Sprengel Deformity	skos:exactMatch	MIM:184400	SPRENGEL DEFORMITY	semapv:ManualMappingCuration	
DOID:9003431	Junctional Epidermolysis Bullosa 5A, Intermediate	skos:exactMatch	MIM:619816	Epidermolysis bullosa, junctional 5A, intermediate	semapv:ManualMappingCuration	2022-06-07
DOID:9003433	Hemifacial Hyperplasia with Strabismus	skos:exactMatch	MIM:141350	HEMIFACIAL HYPERPLASIA WITH STRABISMUS	semapv:ManualMappingCuration	2022-11-29
DOID:9003434	Congenital Disorder of Glycosylation with Defective Fucosylation 1	skos:exactMatch	MIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	semapv:ManualMappingCuration	2019-01-11
DOID:9003438	Branchial Cleft Anomalies	skos:exactMatch	MIM:113600	BRANCHIAL CLEFT ANOMALIES	semapv:ManualMappingCuration	
DOID:9003441	Nephrotic Syndrome Type 24	skos:exactMatch	MIM:619263	Nephrotic syndrome, type 24	semapv:ManualMappingCuration	2021-04-13
DOID:9003446	Homozygous 11p15-p14 Deletion Syndrome	skos:exactMatch	MIM:606528	Chromosome 11p15-p14 deletion syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9003448	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA	skos:exactMatch	MIM:619286	Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	semapv:ManualMappingCuration	2021-05-14
DOID:9003451	Multiple mitochondrial dysfunctions syndrome 9A	skos:exactMatch	MIM:617717	Auditory neuropathy and optic atrophy	semapv:ManualMappingCuration	2017-11-30
DOID:9003452	Prostate Cancer, Hereditary, 9	skos:exactMatch	MIM:610997	{Prostate cancer, hereditary, 9}	semapv:ManualMappingCuration	2017-10-03
DOID:9003454	Scholte Syndrome	skos:exactMatch	MIM:300977	SCHOLTE SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9003455	Teebi Shaltout Syndrome	skos:exactMatch	MIM:272950	TEEBI-SHALTOUT SYNDROME	semapv:ManualMappingCuration	
DOID:9003459	Odontochondrodysplasia 1	skos:exactMatch	MIM:184260	Odontochondrodysplasia 1	semapv:ManualMappingCuration	2019-09-20
DOID:9003460	Fraser-Like Syndrome	skos:exactMatch	MIM:229230	FRASER-LIKE SYNDROME	semapv:ManualMappingCuration	
DOID:9003461	Mirror Movements 2	skos:exactMatch	MIM:614508	Mirror movements 2	semapv:ManualMappingCuration	2014-10-16
DOID:9003463	Gingival Fibromatosis 2	skos:exactMatch	MIM:605544	Fibromatosis, gingival, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9003464	Congenital Dysfibrinogenemia	skos:exactMatch	MIM:616004	Hypodysfibrinogenemia	semapv:ManualMappingCuration	2017-10-10
DOID:9003465	Daneman Davy Mancer Syndrome	skos:exactMatch	MIM:138790	GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES	semapv:ManualMappingCuration	
DOID:9003467	Retinitis Pigmentosa 92	skos:exactMatch	MIM:619614	Retinitis pigmentosa 92	semapv:ManualMappingCuration	2021-11-15
DOID:9003469	Ichthyosis and Male Hypogonadism	skos:exactMatch	MIM:308200	ICHTHYOSIS AND MALE HYPOGONADISM	semapv:ManualMappingCuration	2017-10-03
DOID:9003471	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3	skos:exactMatch	MIM:608033	{Encephalopathy, acute, infection-induced, 3, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:9003472	Defect of Tricarboxylic Acid Cycle	skos:exactMatch	MIM:275370	TRICARBOXYLIC ACID CYCLE, DEFECT OF	semapv:ManualMappingCuration	
DOID:9003473	Familial Hypercholanemia 2	skos:exactMatch	MIM:619256	Hypercholanemia, familial 2	semapv:ManualMappingCuration	2021-04-13
DOID:9003474	Aniridia and Absent Patella	skos:exactMatch	MIM:106220	ANIRIDIA AND ABSENT PATELLA	semapv:ManualMappingCuration	
DOID:9003477	Kleeblattschaedel Syndrome	skos:exactMatch	MIM:148800	KLEEBLATTSCHAEDEL	semapv:ManualMappingCuration	
DOID:9003478	Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A	skos:exactMatch	MIM:156310	METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASE A	semapv:ManualMappingCuration	
DOID:9003479	Proportionate Dwarfism with Hip Dislocation	skos:exactMatch	MIM:223550	DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION	semapv:ManualMappingCuration	
DOID:9003480	Spastic Paraplegia, Ataxia, and Mental Retardation	skos:exactMatch	MIM:607565	SPASTIC PARAPLEGIA, ATAXIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9003488	Postaxial Polydactyly, Type A1	skos:exactMatch	MIM:174200	Polydactyly, postaxial, types A1 and B	semapv:ManualMappingCuration	2017-10-03
DOID:9003490	Myopia 22, Autosomal Dominant	skos:exactMatch	MIM:615420	Myopia 22, autosomal dominant	semapv:ManualMappingCuration	2014-09-09
DOID:9003492	Oocyte/Zygote/Embryo Maturation Arrest 12	skos:exactMatch	MIM:619697	Oocyte/zygote/embryo maturation arrest 12	semapv:ManualMappingCuration	2022-01-07
DOID:9003493	primary pulmonary hypertension 2	skos:exactMatch	MIM:615342	Pulmonary hypertension, primary, 2	semapv:ManualMappingCuration	2014-09-09
DOID:9003497	Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization	skos:exactMatch	MIM:618113	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	semapv:ManualMappingCuration	2019-04-16
DOID:9003499	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES	skos:exactMatch	MIM:619557	SIMHA syndrome	semapv:ManualMappingCuration	2021-12-13
DOID:9003502	Antecubital Pterygium	skos:exactMatch	MIM:178200	PTERYGIUM, ANTECUBITAL	semapv:ManualMappingCuration	
DOID:9003504	Dentin Dysplasia, Type 1	skos:exactMatch	MIM:125400	Dentin dysplasia, type I, with microdontia and misshapen teeth	semapv:ManualMappingCuration	2017-10-03
DOID:9003508	Iris Pigment Epithelium Anomalies	skos:exactMatch	MIM:601616	IRIS PIGMENT EPITHELIUM ANOMALIES	semapv:ManualMappingCuration	
DOID:9003509	External Ophthalmoplegia and Myopia	skos:exactMatch	MIM:311000	OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA	semapv:ManualMappingCuration	2017-10-03
DOID:9003513	Myopia 10	skos:exactMatch	MIM:609259	Myopia 10	semapv:ManualMappingCuration	2017-10-03
DOID:9003514	Congenital Partial Atresia of Larynx	skos:exactMatch	MIM:150300	LARYNX, CONGENITAL PARTIAL ATRESIA OF	semapv:ManualMappingCuration	
DOID:9003515	Neonatal Pulmonary Hypertension	skos:exactMatch	MIM:615371	{Pulmonary hypertension, neonatal, susceptibility to}	semapv:ManualMappingCuration	2014-10-16
DOID:9003522	Spastic Paraplegia with Neuropathy and Poikiloderma	skos:exactMatch	MIM:182815	SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA	semapv:ManualMappingCuration	
DOID:9003524	Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay	skos:exactMatch	MIM:112370	BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUS ADDUCTUS, AND DEVELOPMENTAL DELAY	semapv:ManualMappingCuration	
DOID:9003525	Myopia 21, Autosomal Dominant	skos:exactMatch	MIM:614167	Myopia 21, autosomal dominant	semapv:ManualMappingCuration	2014-09-09
DOID:9003529	Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps	skos:exactMatch	MIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	semapv:ManualMappingCuration	2017-10-03
DOID:9003530	Al-Raqad Syndrome	skos:exactMatch	MIM:616459	Al-Raqad syndrome	semapv:ManualMappingCuration	2017-02-14
DOID:9003532	IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)	skos:exactMatch	MIM:619872	?Immunodeficiency 101 (varicella zoster virus-specific)	semapv:ManualMappingCuration	2022-06-24
DOID:9003535	Bone Marrow Failure Syndrome 5	skos:exactMatch	MIM:618165	Bone marrow failure syndrome 5	semapv:ManualMappingCuration	2019-03-15
DOID:9003536	Familial Thoracic Aortic Aneurysm 8	skos:exactMatch	MIM:615436	Aortic aneurysm, familial thoracic 8	semapv:ManualMappingCuration	2014-09-09
DOID:9003537	Phosphohydroxylysinuria	skos:exactMatch	MIM:615011	[?Phosphohydroxylysinuria]	semapv:ManualMappingCuration	2015-06-11
DOID:9003538	Myotonia with Skeletal Abnormalities and Mental Retardation	skos:exactMatch	MIM:255710	MYOTONIA WITH SKELETAL ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9003540	Postaxial Polydactyly, Type A10	skos:exactMatch	MIM:618498	Polydactyly, postaxial, type A10	semapv:ManualMappingCuration	2019-07-15
DOID:9003541	Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance	skos:exactMatch	MIM:162380	NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL PATHWAY AND AUTONOMIC DISTURBANCE	semapv:ManualMappingCuration	
DOID:9003542	Keratoconus 5	skos:exactMatch	MIM:614622	Keratoconus 5	semapv:ManualMappingCuration	
DOID:9003543	Motor Neuron Disease with Dementia and Ophthalmoplegia	skos:exactMatch	MIM:600333	MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA	semapv:ManualMappingCuration	
DOID:9003544	Visceral Heterotaxy 9, Autosomal	skos:exactMatch	MIM:618948	Heterotaxy, visceral, 9, autosomal, with male infertility	semapv:ManualMappingCuration	2020-07-23
DOID:9003546	Total Intestinal Aganglionosis	skos:exactMatch	MIM:202550	AGANGLIONOSIS, TOTAL INTESTINAL	semapv:ManualMappingCuration	2018-12-13
DOID:9003549	Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	skos:exactMatch	MIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	semapv:ManualMappingCuration	2014-09-02
DOID:9003550	Distal Transverse Limb Defects with Mental Retardation and Spasticity	skos:exactMatch	MIM:246555	LIMB DEFECTS, DISTAL TRANSVERSE, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND SPASTICITY	semapv:ManualMappingCuration	2022-11-29
DOID:9003551	German Syndrome	skos:exactMatch	MIM:231080	GERMAN SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9003552	Candidiasis, Familial, 8	skos:exactMatch	MIM:615527	?Candidiasis, familial, 8	semapv:ManualMappingCuration	2014-09-09
DOID:9003554	Glycosylphosphatidylinositol Biosynthesis Defect 25	skos:exactMatch	MIM:619985	?Glycosylphosphatidylinositol biosynthesis defect 25	semapv:ManualMappingCuration	2022-08-08
DOID:9003559	Brachyolmia Type 3	skos:exactMatch	MIM:113500	Brachyolmia type 3	semapv:ManualMappingCuration	2017-10-03
DOID:9003562	Primary Autosomal Recessive Microcephaly 29	skos:exactMatch	MIM:620047	?Microcephaly 29, primary, autosomal recessive	semapv:ManualMappingCuration	2022-09-22
DOID:9003563	KOHLSCHUTTER-TONZ SYNDROME-LIKE	skos:exactMatch	MIM:619229	den Hoed-de Boer-Voisin syndrome	semapv:ManualMappingCuration	2021-04-09
DOID:9003567	Cutaneous Bullous Amyloidosis	skos:exactMatch	MIM:204900	AMYLOIDOSIS, CUTANEOUS BULLOUS	semapv:ManualMappingCuration	
DOID:9003570	Kaya-Barakat-Masson Syndrome	skos:exactMatch	MIM:619125	Kaya-Barakat-Masson syndrome	semapv:ManualMappingCuration	2020-12-18
DOID:9003572	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	skos:exactMatch	MIM:602562	MANDIBULOFACIAL DYSOSTOSIS WITH MACROBLEPHARON AND MACROSTOMIA	semapv:ManualMappingCuration	
DOID:9003573	Congenital Arthrogryposis with Anterior Horn Cell Disease	skos:exactMatch	MIM:611890	Congenital arthrogryposis with anterior horn cell disease	semapv:ManualMappingCuration	2017-10-03
DOID:9003574	Congenital Visceral Steatosis	skos:exactMatch	MIM:228100	VISCERAL STEATOSIS, CONGENITAL	semapv:ManualMappingCuration	2017-10-03
DOID:9003579	Complex Camptosynpolydactyly	skos:exactMatch	MIM:607539	?Camptosynpolydactyly, complex	semapv:ManualMappingCuration	2017-10-10
DOID:9003580	Primary Congenital Glaucoma 3, D	skos:exactMatch	MIM:613086	Glaucoma 3, primary congenital, D	semapv:ManualMappingCuration	2017-10-03
DOID:9003583	Chromosome 13q33-q34 Deletion Syndrome	skos:exactMatch	MIM:619148	Chromosome 13q33-q34 deletion syndrome	semapv:ManualMappingCuration	2021-01-11
DOID:9003585	Major Depressive Disorder 1	skos:exactMatch	MIM:608520	Major depressive disorder 1	semapv:ManualMappingCuration	2017-10-03
DOID:9003586	Pancreatitis, Sclerosing Cholangitis, and Sicca Complex	skos:exactMatch	MIM:260480	PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX	semapv:ManualMappingCuration	2022-12-06
DOID:9003587	Congenital Heart Defects, Multiple Types, 1, X-Linked	skos:exactMatch	MIM:306955	Congenital heart defects, nonsyndromic, 1, X-linked	semapv:ManualMappingCuration	2015-03-03
DOID:9003588	Multisystem Autoimmune Disease, Infantile-Onset, 3	skos:exactMatch	MIM:620430	Autoimmune disease, multisystem, infantile-onset, 3	semapv:ManualMappingCuration	2023-07-07
DOID:9003589	Acromegaloid Facial Appearance Syndrome	skos:exactMatch	MIM:102150	ACROMEGALOID FACIAL APPEARANCE SYNDROME	semapv:ManualMappingCuration	
DOID:9003590	Duane Retraction Syndrome 2	skos:exactMatch	MIM:604356	Duane retraction syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:9003591	Telecanthus	skos:exactMatch	MIM:187350	TELECANTHUS	semapv:ManualMappingCuration	
DOID:9003592	Wiedemann Oldigs Oppermann Syndrome	skos:exactMatch	MIM:142625	HIRSUTISM, SKELETAL DYSPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9003595	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY	skos:exactMatch	MIM:619354	?Deafness, cataract, impaired intellectual development, and polyneuropathy	semapv:ManualMappingCuration	2021-08-12
DOID:9003596	Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome	skos:exactMatch	MIM:100820	ACHOO SYNDROME	semapv:ManualMappingCuration	2022-11-08
DOID:9003598	Glaucoma 1, Open Angle, H	skos:exactMatch	MIM:611276	Glaucoma 1, open angle, H	semapv:ManualMappingCuration	2017-10-03
DOID:9003601	Pseudoinflammatory Fundus Dystrophy, Finnish Type	skos:exactMatch	MIM:264420	FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM	semapv:ManualMappingCuration	
DOID:9003602	Patent Ductus Arteriosus 2	skos:exactMatch	MIM:617035	Patent ductus arteriosus 2	semapv:ManualMappingCuration	2017-03-13
DOID:9003604	Pulmonary Atresia with Intact Ventricular Septum	skos:exactMatch	MIM:265150	PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM	semapv:ManualMappingCuration	
DOID:9003605	Glaucoma 1, Open Angle, B	skos:exactMatch	MIM:606689	Glaucoma 1B, primary open angle, adult onset	semapv:ManualMappingCuration	2014-06-23
DOID:9003607	Giacheti Syndrome	skos:exactMatch	MIM:612917	GIACHETI SYNDROME	semapv:ManualMappingCuration	
DOID:9003614	Roy Maroteaux Kremp Syndrome	skos:exactMatch	MIM:250500	METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA	semapv:ManualMappingCuration	
DOID:9003618	HYPERTRIGLYCERIDEMIA 2	skos:exactMatch	MIM:619324	Hypertriglyceridemia 2	semapv:ManualMappingCuration	2021-08-13
DOID:9003622	Progressive Familial Intrahepatic Cholestasis 10	skos:exactMatch	MIM:619868	Cholestasis, progressive familial intrahepatic, 10	semapv:ManualMappingCuration	2022-05-09
DOID:9003625	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	skos:exactMatch	MIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	semapv:ManualMappingCuration	2021-04-13
DOID:9003626	Paragangliomas 3	skos:exactMatch	MIM:605373	Pheochromocytoma/paraganglioma syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:9003627	Chromosomal Instability with Tissue-Specific Radiosensitivity	skos:exactMatch	MIM:215510	CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY	semapv:ManualMappingCuration	
DOID:9003629	Jeffries-Lakhani Neurodevelopmental Syndrome	skos:exactMatch	MIM:620771	Jeffries-Lakhani neurodevelopmental syndrome	semapv:ManualMappingCuration	2024-05-14
DOID:9003633	Primary Ciliary Dyskinesia 50	skos:exactMatch	MIM:620356	Ciliary dyskinesia, primary, 50	semapv:ManualMappingCuration	2023-05-01
DOID:9003634	NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES	skos:exactMatch	MIM:619880	Neurodevelopmental disorder with poor growth and skeletal anomalies	semapv:ManualMappingCuration	2022-06-30
DOID:9003635	Isolated Pterygium Colli	skos:exactMatch	MIM:177990	PTERYGIUM COLLI, ISOLATED	semapv:ManualMappingCuration	
DOID:9003636	Absence of Nasal Bones	skos:exactMatch	MIM:161480	NASAL BONES, ABSENCE OF	semapv:ManualMappingCuration	
DOID:9003641	Expansile Bone Lesions	skos:exactMatch	MIM:603439	EXPANSILE BONE LESIONS	semapv:ManualMappingCuration	
DOID:9003642	Craniosynostosis, Adelaide Type	skos:exactMatch	MIM:600593	Craniosynostosis, Adelaide type	semapv:ManualMappingCuration	2017-10-03
DOID:9003643	Bone Marrow Failure Syndrome 6	skos:exactMatch	MIM:618849	?Bone marrow failure syndrome 6	semapv:ManualMappingCuration	2020-04-23
DOID:9003645	Myopathy with Giant Abnormal Mitochondria	skos:exactMatch	MIM:255140	MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA	semapv:ManualMappingCuration	
DOID:9003647	Hypospadias 2, X-Linked	skos:exactMatch	MIM:300758	Hypospadias 2, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:9003650	Precocious Osteodysplasty of Danks, Mayne, and Kozlowski	skos:exactMatch	MIM:259270	OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI	semapv:ManualMappingCuration	
DOID:9003652	Hydatidiform Mole, Recurrent, 1	skos:exactMatch	MIM:231090	Hydatidiform mole, recurrent, 1	semapv:ManualMappingCuration	2019-01-22
DOID:9003653	Microcephalic Osteodysplastic Primordial Dwarfism, Type III	skos:exactMatch	MIM:210730	null	semapv:ManualMappingCuration	
DOID:9003654	Testicular Germ Cell Tumor	skos:exactMatch	MIM:273300	Testicular tumor, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:9003659	Chromosome Xq13 Duplication Syndrome	skos:exactMatch	MIM:301069	Chromosome Xq13 duplication syndrome	semapv:ManualMappingCuration	2022-12-06
DOID:9003662	Fryns Hofkens Fabry Syndrome	skos:exactMatch	MIM:191440	ULNAR HYPOPLASIA	semapv:ManualMappingCuration	
DOID:9003663	Dohle Bodies and Leukemia	skos:exactMatch	MIM:223350	DOHLE BODIES AND LEUKEMIA	semapv:ManualMappingCuration	
DOID:9003665	Glycogen Storage Disease XI	skos:exactMatch	MIM:612933	Glycogen storage disease XI	semapv:ManualMappingCuration	2017-10-03
DOID:9003667	Wiskott-Aldrich Syndrome, Autosomal Dominant Form	skos:exactMatch	MIM:600903	WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	
DOID:9003672	Keratoconus 6	skos:exactMatch	MIM:614623	Keratoconus 6	semapv:ManualMappingCuration	
DOID:9003673	Sener Syndrome	skos:exactMatch	MIM:606156	SENER SYNDROME	semapv:ManualMappingCuration	
DOID:9003675	Retinitis Pigmentosa 78	skos:exactMatch	MIM:617433	Retinitis pigmentosa 78	semapv:ManualMappingCuration	2017-06-21
DOID:9003677	Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies	skos:exactMatch	MIM:607131	?Al-Gazali-Bakalinova syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9003678	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	skos:exactMatch	MIM:245349	Lacticacidemia due to PDX1 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9003680	Plasmodium Falciparum Blood Infection Level	skos:exactMatch	MIM:248310	{Malaria, intensity of infection}	semapv:ManualMappingCuration	2014-06-23
DOID:9003681	Primary Ciliary Dyskinesia 52	skos:exactMatch	MIM:620570	Ciliary dyskinesia, primary, 52	semapv:ManualMappingCuration	2023-11-10
DOID:9003684	Brachyolmia Type 1, Hobaek Type	skos:exactMatch	MIM:271530	BRACHYOLMIA TYPE 1, HOBAEK TYPE	semapv:ManualMappingCuration	2018-08-22
DOID:9003685	Mismatch Repair Cancer Syndrome 4	skos:exactMatch	MIM:619101	Mismatch repair cancer syndrome 4	semapv:ManualMappingCuration	2020-11-30
DOID:9003687	Multisystem Autoimmune Disease with Facial Dysmorphism	skos:exactMatch	MIM:613385	Autoimmune disease, multisystem, with facial dysmorphism	semapv:ManualMappingCuration	2014-06-23
DOID:9003689	HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES	skos:exactMatch	MIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	semapv:ManualMappingCuration	2019-09-12
DOID:9003692	NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES	skos:exactMatch	MIM:619922	Neurodevelopmental disorder with dystonia and seizures	semapv:ManualMappingCuration	2022-12-13
DOID:9003693	Multiple Exostoses Type II	skos:exactMatch	MIM:133701	Exostoses, multiple, type 2	semapv:ManualMappingCuration	2014-06-23
DOID:9003695	Hypercalciuria, Absorptive, 1	skos:exactMatch	MIM:607258	Hypercalciuria, absorptive	semapv:ManualMappingCuration	2017-10-03
DOID:9003696	Spastic Paraplegia, Epilepsy, Mental Retardation	skos:exactMatch	MIM:182610	SPASTIC PARAPLEGIA, EPILEPSY, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9003698	ALAGILLE SYNDROME 1	skos:exactMatch	MIM:118450	Alagille syndrome 1	semapv:ManualMappingCuration	2024-02-08
DOID:9003699	Colloid Cysts of Third Ventricle	skos:exactMatch	MIM:609363	COLLOID CYSTS OF THIRD VENTRICLE	semapv:ManualMappingCuration	
DOID:9003701	Intellectual Developmental Disorder with Autism and Dysmorphic Facies	skos:exactMatch	MIM:620021	Intellectual developmental disorder with autism and dysmorphic facies	semapv:ManualMappingCuration	2022-11-14
DOID:9003702	Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate	skos:exactMatch	MIM:601420	MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE	semapv:ManualMappingCuration	2022-12-06
DOID:9003704	Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies	skos:exactMatch	MIM:618608	Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	semapv:ManualMappingCuration	2019-11-12
DOID:9003705	Sick Sinus Syndrome 1, Autosomal Recessive	skos:exactMatch	MIM:608567	Sick sinus syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9003710	Autosomal Dominant Intellectual Developmental Disorder 62	skos:exactMatch	MIM:618793	Intellectual developmental disorder, autosomal dominant 62	semapv:ManualMappingCuration	2020-02-28
DOID:9003713	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis	skos:exactMatch	MIM:PS105550	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	semapv:ManualMappingCuration	2019-03-20
DOID:9003715	Leukocyte Nuclear Appendages, Hereditary Prevalence of	skos:exactMatch	MIM:151500	LEUKOCYTE NUCLEAR APPENDAGES, HEREDITARY PREVALENCE OF	semapv:ManualMappingCuration	
DOID:9003716	Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia	skos:exactMatch	MIM:619248	?Vitreoretinopathy with phalangeal epiphyseal dysplasia	semapv:ManualMappingCuration	2021-03-26
DOID:9003719	Progressive Vitiligo with Mental Retardation and Urethral Duplication	skos:exactMatch	MIM:277465	VITILIGO, PROGRESSIVE, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND URETHRAL DUPLICATION	semapv:ManualMappingCuration	
DOID:9003720	Myopia 14	skos:exactMatch	MIM:610320	Myopia 14	semapv:ManualMappingCuration	2017-10-03
DOID:9003723	Vesicoureteral Reflux 8	skos:exactMatch	MIM:615963	Vesicoureteral reflux 8	semapv:ManualMappingCuration	2017-04-19
DOID:9003724	Granulovacuolar Lobular Myopathy with Electrical Myotonia	skos:exactMatch	MIM:254950	MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA	semapv:ManualMappingCuration	
DOID:9003725	Familial Polythelia	skos:exactMatch	MIM:163700	NIPPLES, SUPERNUMERARY	semapv:ManualMappingCuration	2022-11-29
DOID:9003726	Corneal Hypesthesia, Familial	skos:exactMatch	MIM:122450	CORNEAL HYPESTHESIA, FAMILIAL	semapv:ManualMappingCuration	
DOID:9003728	Shashi-Pena Syndrome	skos:exactMatch	MIM:617190	Shashi-Pena syndrome	semapv:ManualMappingCuration	2017-04-04
DOID:9003729	Pruritic Urticarial Papules Plaques of Pregnancy	skos:exactMatch	MIM:178995	PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY	semapv:ManualMappingCuration	
DOID:9003732	Congenital Moderate Neural Deafness	skos:exactMatch	MIM:221500	DEAFNESS, NEURAL, CONGENITAL MODERATE	semapv:ManualMappingCuration	
DOID:9003733	Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency	skos:exactMatch	MIM:201910	Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9003734	Vesicoureteral Reflux 2	skos:exactMatch	MIM:610878	Vesicoureteral reflux 2	semapv:ManualMappingCuration	2017-10-03
DOID:9003735	Splenic Hypoplasia	skos:exactMatch	MIM:271400	Asplenia, isolated congenital	semapv:ManualMappingCuration	2014-10-20
DOID:9003738	Familial Vocal Cord Dysfunction	skos:exactMatch	MIM:150260	LARYNGEAL ABDUCTOR PARALYSIS	semapv:ManualMappingCuration	2022-11-29
DOID:9003738	Familial Vocal Cord Dysfunction	skos:exactMatch	MIM:308850	LARYNGEAL ABDUCTOR PARALYSIS, X-LINKED	semapv:ManualMappingCuration	
DOID:9003739	Niemann-Pick Disease Type D	skos:exactMatch	MIM:257220	Niemann-Pick disease, type C1	semapv:ManualMappingCuration	2024-02-08
DOID:9003742	Prostate Cancer, Hereditary, 14	skos:exactMatch	MIM:611958	{Prostate cancer, hereditary, 14}	semapv:ManualMappingCuration	2017-10-03
DOID:9003747	Monophalangy of Great Toe	skos:exactMatch	MIM:158100	MONOPHALANGY OF GREAT TOE	semapv:ManualMappingCuration	2022-11-28
DOID:9003748	Thumb Deformity	skos:exactMatch	MIM:188100	THUMB DEFORMITY	semapv:ManualMappingCuration	
DOID:9003749	Sick Sinus Syndrome 2, Autosomal Dominant	skos:exactMatch	MIM:163800	Sick sinus syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:9003750	Tetrasomy 15q26	skos:exactMatch	MIM:614846	Levy-Shanske syndrome	semapv:ManualMappingCuration	2022-12-16
DOID:9003751	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM	skos:exactMatch	MIM:619761	Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism	semapv:ManualMappingCuration	2022-03-10
DOID:9003754	MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES	skos:exactMatch	MIM:620166	Muscular dystrophy, congenital, with or without seizures	semapv:ManualMappingCuration	2023-02-28
DOID:9003763	Renal Hypodysplasia/Aplasia 1	skos:exactMatch	MIM:191830	Renal hypodysplasia/aplasia 1	semapv:ManualMappingCuration	2018-07-10
DOID:9003768	Mirror Movements 4	skos:exactMatch	MIM:618264	Mirror movements 4	semapv:ManualMappingCuration	2019-02-12
DOID:9003769	Patterson Stevenson Syndrome	skos:exactMatch	MIM:183700	SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS	semapv:ManualMappingCuration	2022-10-13
DOID:9003769	Patterson Stevenson Syndrome	skos:exactMatch	MIM:190605	Triphalangeal thumb-polysyndactyly syndrome	semapv:ManualMappingCuration	2022-10-13
DOID:9003772	Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence	skos:exactMatch	MIM:609612	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE	semapv:ManualMappingCuration	
DOID:9003774	Familial Visceral Neuropathy 2, Autosomal Recessive	skos:exactMatch	MIM:619465	?Visceral neuropathy, familial, 2, autosomal recessive	semapv:ManualMappingCuration	2021-11-02
DOID:9003777	Immunodeficiency due to Defect in MAPBP-Interacting Protein	skos:exactMatch	MIM:610798	Immunodeficiency due to defect in MAPBP-interacting protein	semapv:ManualMappingCuration	2017-10-03
DOID:9003780	Split-Hand/Foot Malformation with Long Bone Deficiency 2	skos:exactMatch	MIM:610685	Split-hand/foot malformation with long bone deficiency 2	semapv:ManualMappingCuration	2017-10-03
DOID:9003783	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome	skos:exactMatch	MIM:246570	FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME	semapv:ManualMappingCuration	
DOID:9003784	Uncombable Hair Syndrome 3	skos:exactMatch	MIM:617252	?Uncombable hair syndrome 3	semapv:ManualMappingCuration	2017-04-19
DOID:9003785	Fibromuscular Dysplasia	skos:exactMatch	MIM:135580	FIBROMUSCULAR DYSPLASIA, ARTERIAL	semapv:ManualMappingCuration	
DOID:9003787	Lipoid Congenital Adrenal Hyperplasia	skos:exactMatch	MIM:201710	Lipoid adrenal hyperplasia	semapv:ManualMappingCuration	2017-10-03
DOID:9003788	Immune Deficiency, Familial Variable	skos:exactMatch	MIM:146830	IMMUNE DEFICIENCY, FAMILIAL VARIABLE	semapv:ManualMappingCuration	2022-11-28
DOID:9003789	Odontochondrodysplasia	skos:exactMatch	MIM:PS184260	Odontochondrodysplasia 1	semapv:ManualMappingCuration	2022-10-11
DOID:9003790	Posttransfusion Purpura	skos:exactMatch	MIM:173470	Bleeding disorder, platelet-type, 24, autosomal dominant	semapv:ManualMappingCuration	2014-10-20
DOID:9003793	Dupuytren Contracture	skos:exactMatch	MIM:126900	Dupuytren contracture 1	semapv:ManualMappingCuration	2017-10-03
DOID:9003796	T-Cell OKT4 Deficiency	skos:exactMatch	MIM:613949	OKT4 epitope deficiency	semapv:ManualMappingCuration	2018-04-05
DOID:9003797	Glaucoma 1, Open Angle, I	skos:exactMatch	MIM:609745	Glaucoma 1, open angle, I	semapv:ManualMappingCuration	2017-10-03
DOID:9003798	Paine Syndrome	skos:exactMatch	MIM:311400	PAINE SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:9003801	Elliptocytosis 3	skos:exactMatch	MIM:617948	Anemia, neonatal hemolytic, fatal or near-fatal	semapv:ManualMappingCuration	2014-10-20
DOID:9003806	PHACE Association	skos:exactMatch	MIM:606519	PHACE ASSOCIATION	semapv:ManualMappingCuration	
DOID:9003807	Bifid Nose	skos:exactMatch	MIM:109740	BIFID NOSE, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2022-11-21
DOID:9003807	Bifid Nose	skos:exactMatch	MIM:210400	BIFID NOSE, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	
DOID:9003808	Progressive Myoclonus Epilepsy 12	skos:exactMatch	MIM:619191	Epilepsy, progressive myoclonic, 12	semapv:ManualMappingCuration	2021-03-01
DOID:9003812	Ventricular Extrasystoles Perodactyly Robin Sequence	skos:exactMatch	MIM:192445	VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE	semapv:ManualMappingCuration	
DOID:9003815	Rosselli-Gulienetti Syndrome	skos:exactMatch	MIM:225000	ROSSELLI-GULIENETTI SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:9003816	Macrocephaly	skos:exactMatch	MIM:155350	MEGALENCEPHALY, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	
DOID:9003818	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES	skos:exactMatch	MIM:618547	Neurodevelopmental disorder with visual defects and brain anomalies	semapv:ManualMappingCuration	2019-10-10
DOID:9003820	Infantile Sialic Storage Disease	skos:exactMatch	MIM:269920	Sialic acid storage disorder, infantile	semapv:ManualMappingCuration	2018-02-02
DOID:9003821	Hennekam Lymphangiectasia-Lymphedema Syndrome 1	skos:exactMatch	MIM:235510	Hennekam lymphangiectasia-lymphedema syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9003823	ENCEPHALOPATHY, PORPHYRIA-RELATED	skos:exactMatch	MIM:620704	Encephalopathy, porphyria-related	semapv:ManualMappingCuration	2024-05-13
DOID:9003825	Succinic Acidemia	skos:exactMatch	MIM:600335	SUCCINIC ACIDEMIA	semapv:ManualMappingCuration	2022-11-15
DOID:9003829	Familial Acne Inversa 3	skos:exactMatch	MIM:613737	?Acne inversa, familial, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9003830	Primary Aldosteronism, Seizures, and Neurologic Abnormalities	skos:exactMatch	MIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	semapv:ManualMappingCuration	2014-09-09
DOID:9003832	Dyssegmental Dysplasia with Glaucoma	skos:exactMatch	MIM:601561	DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA	semapv:ManualMappingCuration	
DOID:9003833	Keratolytic Winter Erythema	skos:exactMatch	MIM:148370	Keratolytic winter erythema	semapv:ManualMappingCuration	2017-10-03
DOID:9003835	Craniosynostosis 6	skos:exactMatch	MIM:616602	?Craniosynostosis 6	semapv:ManualMappingCuration	2017-03-01
DOID:9003836	Amyotrophic Lateral Sclerosis with Polyglucosan Bodies	skos:exactMatch	MIM:205250	AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES	semapv:ManualMappingCuration	
DOID:9003837	Au-Kline Syndrome	skos:exactMatch	MIM:616580	Au-Kline syndrome	semapv:ManualMappingCuration	2016-02-09
DOID:9003838	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2	skos:exactMatch	MIM:266300	[Skin/hair/eye pigmentation 2, red hair/fair skin]	semapv:ManualMappingCuration	2021-04-15
DOID:9003840	Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations	skos:exactMatch	MIM:613759	Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction	semapv:ManualMappingCuration	2014-09-09
DOID:9003848	Lentiginosis, Centrofacial Neurodysraphic	skos:exactMatch	MIM:151000	LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC	semapv:ManualMappingCuration	
DOID:9003849	Autosomal Recessive Intellectual Developmental Disorder 80	skos:exactMatch	MIM:620653	Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly	semapv:ManualMappingCuration	2023-12-19
DOID:9003850	Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness	skos:exactMatch	MIM:184000	SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS	semapv:ManualMappingCuration	2022-12-05
DOID:9003851	Prekallikrein Deficiency	skos:exactMatch	MIM:612423	Fletcher factor (prekallikrein) deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9003855	Vesicoureteral Reflux 5	skos:exactMatch	MIM:614318	Vesicoureteral reflux 5	semapv:ManualMappingCuration	2017-10-03
DOID:9003862	Hypohidrosis with Abnormal Palmar Dermal Ridges	skos:exactMatch	MIM:241120	HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES	semapv:ManualMappingCuration	2022-11-14
DOID:9003863	Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	skos:exactMatch	MIM:300719	Deafness, cataract, retinitis pigmentosa, and sperm abnormalities	semapv:ManualMappingCuration	2017-10-03
DOID:9003865	Microcephaly, Short Stature, and Polymicrogyria with or without Seizures	skos:exactMatch	MIM:614833	Microcephaly, short stature, and polymicrogyria with seizures	semapv:ManualMappingCuration	2014-09-09
DOID:9003873	Gingival Fibromatosis 1	skos:exactMatch	MIM:135300	Fibromatosis, gingival, 1	semapv:ManualMappingCuration	2014-06-23
DOID:9003875	Bleeding Disorder, East Texas Type	skos:exactMatch	MIM:605913	Bleeding disorder, east Texas type	semapv:ManualMappingCuration	2017-10-03
DOID:9003877	Postaxial Polydactyly, Type A6	skos:exactMatch	MIM:615226	?Polydactyly, postaxial, type A6	semapv:ManualMappingCuration	2014-09-09
DOID:9003881	Epidermolysis Bullosa Simplex 5C with Pyloric Atresia	skos:exactMatch	MIM:612138	Epidermolysis bullosa simplex 5C, with pyloric atresia	semapv:ManualMappingCuration	2017-10-03
DOID:9003884	Recombinant Chromosome 8 Syndrome	skos:exactMatch	MIM:179613	RECOMBINANT CHROMOSOME 8 SYNDROME	semapv:ManualMappingCuration	
DOID:9003885	Singleton-Merten Syndrome 1	skos:exactMatch	MIM:182250	Singleton-Merten syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9003886	Trichodysplasia-Xeroderma	skos:exactMatch	MIM:190360	TRICHODYSPLASIA-XERODERMA	semapv:ManualMappingCuration	
DOID:9003888	Brachydactyly Type E, with Atrial Septal Defect, Type II	skos:exactMatch	MIM:113301	BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II	semapv:ManualMappingCuration	2022-11-21
DOID:9003890	X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia	skos:exactMatch	MIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	semapv:ManualMappingCuration	2014-06-23
DOID:9003891	Osteopoikilosis and Dacryocystitis	skos:exactMatch	MIM:166705	OSTEOPOIKILOSIS AND DACRYOCYSTITIS	semapv:ManualMappingCuration	
DOID:9003892	Mismatch Repair Cancer Syndrome 1	skos:exactMatch	MIM:276300	Mismatch repair cancer syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9003893	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE	skos:exactMatch	MIM:618970	Cone-rod synaptic disorder syndrome, congenital nonprogressive	semapv:ManualMappingCuration	2020-09-04
DOID:9003895	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2	skos:exactMatch	MIM:618193	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	semapv:ManualMappingCuration	2018-12-07
DOID:9003897	Iris Hypoplasia and Glaucoma	skos:exactMatch	MIM:308500	IRIS HYPOPLASIA WITH GLAUCOMA	semapv:ManualMappingCuration	2017-10-03
DOID:9003898	Chloramphenicol Toxicity	skos:exactMatch	MIM:515000	CHLORAMPHENICOL TOXICITY	semapv:ManualMappingCuration	2015-07-14
DOID:9003900	Keratosis Follicularis, Dwarfism, and Cerebral Atrophy	skos:exactMatch	MIM:308830	KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY	semapv:ManualMappingCuration	
DOID:9003902	Progressive Myoclonus Epilepsy 11	skos:exactMatch	MIM:618876	Epilepsy, progressive myoclonic, 11	semapv:ManualMappingCuration	2020-05-13
DOID:9003904	Autosomal Dominant Intellectual Developmental Disorder 69	skos:exactMatch	MIM:617863	?Intellectual developmental disorder, autosomal dominant 69	semapv:ManualMappingCuration	2022-07-18
DOID:9003905	Benign Familial Chorea	skos:exactMatch	MIM:215450	CHOREA, BENIGN FAMILIAL	semapv:ManualMappingCuration	2018-08-21
DOID:9003907	Aicardi-Goutieres Syndrome 2	skos:exactMatch	MIM:610181	Aicardi-Goutieres syndrome 2	semapv:ManualMappingCuration	2018-01-05
DOID:9003908	Microcolon	skos:exactMatch	MIM:251400	MICROCOLON	semapv:ManualMappingCuration	
DOID:9003909	Immunodeficiency 67	skos:exactMatch	MIM:607676	Immunodeficiency 67	semapv:ManualMappingCuration	2017-10-03
DOID:9003911	Aniridia 2	skos:exactMatch	MIM:617141	?Aniridia 2	semapv:ManualMappingCuration	2017-10-10
DOID:9003915	Faundes-Banka Syndrome	skos:exactMatch	MIM:619376	Faundes-Banka syndrome	semapv:ManualMappingCuration	2021-06-11
DOID:9003917	Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia	skos:exactMatch	MIM:607944	Spondyloenchondrodysplasia with immune dysregulation	semapv:ManualMappingCuration	2014-10-20
DOID:9003920	Microtia, Hearing Impairment, and Cleft Palate	skos:exactMatch	MIM:612290	?Microtia, hearing impairment, and cleft palate (AR)	semapv:ManualMappingCuration	2017-10-03
DOID:9003922	Developmental and Epileptic Encephalopathy 113	skos:exactMatch	MIM:620772	Developmental and epileptic encephalopathy 113	semapv:ManualMappingCuration	2024-04-23
DOID:9003923	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES	skos:exactMatch	MIM:620317	Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities	semapv:ManualMappingCuration	2023-06-20
DOID:9003930	Familial Myoclonus 2	skos:exactMatch	MIM:618364	?Myoclonus, familial, 2	semapv:ManualMappingCuration	2019-04-29
DOID:9003931	Tatsumi Factor Deficiency	skos:exactMatch	MIM:272650	TATSUMI FACTOR DEFICIENCY	semapv:ManualMappingCuration	
DOID:9003933	Benign Cerebellar Ataxia with Thermoanalgesia	skos:exactMatch	MIM:212890	CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA	semapv:ManualMappingCuration	
DOID:9003937	X Chromosome, Trisomy Xq25	skos:exactMatch	MIM:300979	Xq25 duplication syndrome	semapv:ManualMappingCuration	
DOID:9003939	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME	skos:exactMatch	MIM:619690	Brunet-Wagner neurodevelopmental syndrome	semapv:ManualMappingCuration	2022-03-10
DOID:9003941	Myopia 5	skos:exactMatch	MIM:608474	Myopia 5	semapv:ManualMappingCuration	2017-10-03
DOID:9003942	Esophageal Ring, Lower	skos:exactMatch	MIM:133240	ESOPHAGEAL RING, LOWER	semapv:ManualMappingCuration	
DOID:9003945	Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities	skos:exactMatch	MIM:620191	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities	semapv:ManualMappingCuration	2023-01-16
DOID:9003946	Platelet-Type Bleeding Disorder 21	skos:exactMatch	MIM:617443	Bleeding disorder, platelet-type, 21	semapv:ManualMappingCuration	2017-06-12
DOID:9003949	Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome	skos:exactMatch	MIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9003950	Familial Hyperaldosteronism, Type IV	skos:exactMatch	MIM:617027	Hyperaldosteronism, familial, type IV	semapv:ManualMappingCuration	2017-04-27
DOID:9003951	Auriculoosteodysplasia	skos:exactMatch	MIM:109000	AURICULOOSTEODYSPLASIA	semapv:ManualMappingCuration	
DOID:9003952	Verheij Syndrome	skos:exactMatch	MIM:615583	Verheij syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9003958	Congenital Muscular Dystrophy with Rapid Progression	skos:exactMatch	MIM:254100	MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION	semapv:ManualMappingCuration	2018-08-22
DOID:9003959	Ventricular Septal Defect 1	skos:exactMatch	MIM:614429	Ventricular septal defect 1	semapv:ManualMappingCuration	2014-09-02
DOID:9003964	Reticular Pigmentary Retinal Dystrophy of Posterior Pole	skos:exactMatch	MIM:267800	RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE	semapv:ManualMappingCuration	
DOID:9003965	NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY	skos:exactMatch	MIM:620371	Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity	semapv:ManualMappingCuration	2023-07-18
DOID:9003966	Anophthalmia Plus Syndrome	skos:exactMatch	MIM:600776	FRYNS MICROPHTHALMIA SYNDROME	semapv:ManualMappingCuration	2022-11-04
DOID:9003970	Preeclampsia/Eclampsia 1	skos:exactMatch	MIM:189800	Preeclampsia/eclampsia 1	semapv:ManualMappingCuration	2017-10-03
DOID:9003972	Human Herpesvirus Type 6, Integrated	skos:exactMatch	MIM:604474	HUMAN HERPESVIRUS TYPE 6, INTEGRATED	semapv:ManualMappingCuration	
DOID:9003973	Childhood-Onset Chorea with Psychomotor Retardation	skos:exactMatch	MIM:616939	?Chorea, childhood-onset, with psychomotor retardation	semapv:ManualMappingCuration	2016-06-10
DOID:9003974	DEEAH Syndrome	skos:exactMatch	MIM:619004	DEEAH syndrome	semapv:ManualMappingCuration	2020-11-18
DOID:9003978	Facio Thoraco Genital Syndrome	skos:exactMatch	MIM:227320	FACIOTHORACOGENITAL SYNDROME	semapv:ManualMappingCuration	
DOID:9003980	Myopathy, Epilepsy, and Progressive Cerebral Atrophy	skos:exactMatch	MIM:619036	Myopathy, epilepsy, and progressive cerebral atrophy	semapv:ManualMappingCuration	2020-10-06
DOID:9003981	Fryns Syndrome	skos:exactMatch	MIM:229850	FRYNS SYNDROME	semapv:ManualMappingCuration	2020-05-13
DOID:9003982	Restless Legs Syndrome 1	skos:exactMatch	MIM:102300	{Restless legs syndrome 1}	semapv:ManualMappingCuration	2017-10-03
DOID:9003985	Sebaceous Gland Hyperplasia, Familial Presenile	skos:exactMatch	MIM:601700	SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE	semapv:ManualMappingCuration	
DOID:9003986	FG Syndrome 3	skos:exactMatch	MIM:300406	FG syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:9003992	Familial Pancreatic Lymphoma	skos:exactMatch	MIM:602596	PANCREATIC LYMPHOMA, FAMILIAL	semapv:ManualMappingCuration	
DOID:9003994	PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE	skos:exactMatch	MIM:619903	Peripheral motor neuropathy, childhood-onset, biotin-responsive	semapv:ManualMappingCuration	2022-08-01
DOID:9003997	Familial Idiopathic Inflammatory Myopathy	skos:exactMatch	MIM:160750	MYOSITIS	semapv:ManualMappingCuration	2018-08-21
DOID:9003998	Platelet Aggregation, Spontaneous	skos:exactMatch	MIM:173400	PLATELET AGGREGATION, SPONTANEOUS	semapv:ManualMappingCuration	
DOID:9003999	Femur Fibula Ulna Syndrome	skos:exactMatch	MIM:228200	FEMUR-FIBULA-ULNA SYNDROME	semapv:ManualMappingCuration	2022-10-31
DOID:9004000	Senior-Loken Syndrome 7	skos:exactMatch	MIM:613615	Senior-Loken syndrome 7	semapv:ManualMappingCuration	2014-09-09
DOID:9004002	Short QT Syndrome 7	skos:exactMatch	MIM:620231	Short QT syndrome 7	semapv:ManualMappingCuration	2023-02-02
DOID:9004005	Familial Ossicular Malformations	skos:exactMatch	MIM:165680	OSSICULAR MALFORMATIONS, FAMILIAL	semapv:ManualMappingCuration	
DOID:9004006	Chondrodysplasia Punctata, Tibia-Metacarpal Type	skos:exactMatch	MIM:118651	CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE	semapv:ManualMappingCuration	2018-08-22
DOID:9004007	Nabais Sa-de Vries Syndrome, Type 2	skos:exactMatch	MIM:618829	Nabais Sa-de Vries syndrome, type 2	semapv:ManualMappingCuration	2020-05-15
DOID:9004011	Autosomal Dominant Intellectual Developmental Disorder 71	skos:exactMatch	MIM:620330	Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities	semapv:ManualMappingCuration	2023-04-21
DOID:9004013	Aplasia or Hypoplasia of Breasts and/or Nipples 1	skos:exactMatch	MIM:113700	BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1	semapv:ManualMappingCuration	2018-03-06
DOID:9004014	Adducted Thumbs Syndrome	skos:exactMatch	MIM:201550	ADDUCTED THUMBS SYNDROME	semapv:ManualMappingCuration	
DOID:9004014	Adducted Thumbs Syndrome	skos:exactMatch	MIM:314100	ADDUCTED THUMBS, CONGENITAL	semapv:ManualMappingCuration	2021-02-18
DOID:9004015	Stevenson-Carey Syndrome	skos:exactMatch	MIM:611961	STEVENSON-CAREY SYNDROME	semapv:ManualMappingCuration	
DOID:9004016	Wiskott-Aldrich Syndrome 2	skos:exactMatch	MIM:614493	Wiskott-Aldrich syndrome 2	semapv:ManualMappingCuration	2014-09-02
DOID:9004020	Epidermodysplasia Verruciformis 1	skos:exactMatch	MIM:226400	{Epidermodysplasia verruciformis, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:9004021	Corneal Dystrophy, Fuchs Endothelial, 5	skos:exactMatch	MIM:613269	Corneal dystrophy, Fuchs endothelial, 5	semapv:ManualMappingCuration	2017-10-03
DOID:9004023	Jagell Holmgren Hofer Syndrome	skos:exactMatch	MIM:242510	ICHTHYOSIS WITH ALOPECIA, ECLABIUM, ECTROPION, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9004026	Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis	skos:exactMatch	MIM:615821	Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis	semapv:ManualMappingCuration	2015-08-11
DOID:9004031	Anomalous Coracoclavicular Joint	skos:exactMatch	MIM:121350	CORACOCLAVICULAR JOINT, ANOMALOUS	semapv:ManualMappingCuration	
DOID:9004032	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT	skos:exactMatch	MIM:617384	Hyperphenylalaninemia, mild, non-BH4-deficient	semapv:ManualMappingCuration	2017-10-10
DOID:9004033	Distal Myopathy 6	skos:exactMatch	MIM:618655	Myopathy, distal, 6, adult onset	semapv:ManualMappingCuration	2019-11-11
DOID:9004035	Segawa Syndrome, Autosomal Recessive	skos:exactMatch	MIM:605407	Segawa syndrome, recessive	semapv:ManualMappingCuration	2017-10-03
DOID:9004037	Hemangiomas of Small Intestine	skos:exactMatch	MIM:140900	HEMANGIOMAS OF SMALL INTESTINE	semapv:ManualMappingCuration	2022-11-14
DOID:9004044	Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly	skos:exactMatch	MIM:186550	Liebenberg syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9004045	Frontoocular Syndrome	skos:exactMatch	MIM:605321	FRONTOOCULAR SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9004046	Microcephaly-Capillary Malformation Syndrome	skos:exactMatch	MIM:614261	Microcephaly-capillary malformation syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9004047	Transient Neonatal Hyperparathyroidism	skos:exactMatch	MIM:618188	Hyperparathyroidism, transient neonatal	semapv:ManualMappingCuration	2019-01-14
DOID:9004053	Autosomal Dominant Auditory Neuropathy 2	skos:exactMatch	MIM:620384	?Auditory neuropathy, autosomal dominant 2	semapv:ManualMappingCuration	2023-05-30
DOID:9004054	Hooft Disease	skos:exactMatch	MIM:236300	HOOFT DISEASE	semapv:ManualMappingCuration	
DOID:9004057	Facial Abnormalities, Kyphoscoliosis, and Mental Retardation	skos:exactMatch	MIM:227250	FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9004058	Immunodeficiency 98 with Autoinflammation, X-Linked	skos:exactMatch	MIM:301078	Immunodeficiency 98 with autoinflammation, X-linked	semapv:ManualMappingCuration	2022-04-22
DOID:9004065	Leukoencephalopathy with Dystonia and Motor Neuropathy	skos:exactMatch	MIM:613724	?Leukoencephalopathy with dystonia and motor neuropathy	semapv:ManualMappingCuration	2014-06-23
DOID:9004066	Congenital Stationary Night Blindness 2B	skos:exactMatch	MIM:610427	Cone-rod synaptic disorder, congenital nonprogressive	semapv:ManualMappingCuration	2014-06-23
DOID:9004067	Chilblain Lupus 2	skos:exactMatch	MIM:614415	?Chilblain lupus 2	semapv:ManualMappingCuration	2014-09-09
DOID:9004070	Townes-Brocks Syndrome 2	skos:exactMatch	MIM:617466	Townes-Brocks syndrome 2	semapv:ManualMappingCuration	2017-06-26
DOID:9004072	Richieri Costa Guion-Almeida Syndrome	skos:exactMatch	MIM:268850	RICHIERI-COSTA/GUION-ALMEIDA SYNDROME	semapv:ManualMappingCuration	
DOID:9004074	Triglyceride Storage Disease, Type II	skos:exactMatch	MIM:190430	TRIGLYCERIDE STORAGE DISEASE, TYPE II	semapv:ManualMappingCuration	
DOID:9004081	Oculotrichodysplasia	skos:exactMatch	MIM:257960	OCULOTRICHODYSPLASIA	semapv:ManualMappingCuration	
DOID:9004088	NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES	skos:exactMatch	MIM:619995	Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies	semapv:ManualMappingCuration	2022-12-15
DOID:9004090	Tufted Angioma	skos:exactMatch	MIM:607859	ANGIOMA, TUFTED	semapv:ManualMappingCuration	
DOID:9004093	Laryngeal Atresia, Encephalocele, and Limb Deformities	skos:exactMatch	MIM:607132	LARYNGEAL ATRESIA, ENCEPHALOCELE, AND LIMB DEFORMITIES	semapv:ManualMappingCuration	2022-12-06
DOID:9004094	Bangstad Syndrome	skos:exactMatch	MIM:210740	BANGSTAD SYNDROME	semapv:ManualMappingCuration	2022-11-14
DOID:9004097	Marfanoid Hypermobility Syndrome	skos:exactMatch	MIM:154750	MARFANOID HYPERMOBILITY SYNDROME	semapv:ManualMappingCuration	
DOID:9004098	DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES	skos:exactMatch	MIM:620098	Developmental delay with variable intellectual disability and dysmorphic facies	semapv:ManualMappingCuration	2023-02-16
DOID:9004100	Familial Atrial Fibrillation 14	skos:exactMatch	MIM:615378	Atrial fibrillation, familial, 14	semapv:ManualMappingCuration	2015-06-30
DOID:9004101	Autosomal Recessive Nonsyndromic Deafness 118	skos:exactMatch	MIM:619553	Deafness, autosomal recessive 118, with cochlear aplasia	semapv:ManualMappingCuration	2021-10-01
DOID:9004102	Duane Retraction Syndrome 1	skos:exactMatch	MIM:126800	Duane retraction syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9004103	Lymphatic Malformation 11	skos:exactMatch	MIM:619401	Lymphatic malformation 11	semapv:ManualMappingCuration	2021-06-25
DOID:9004105	Symphalangism, C. S. Lewis Type	skos:exactMatch	MIM:185650	SYMPHALANGISM, C. S. LEWIS TYPE	semapv:ManualMappingCuration	
DOID:9004109	Intestinal Carcinoid Tumors	skos:exactMatch	MIM:114900	CARCINOID TUMORS, INTESTINAL	semapv:ManualMappingCuration	2017-10-03
DOID:9004112	Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome	skos:exactMatch	MIM:213010	CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME AND MECKEL SYNDROME	semapv:ManualMappingCuration	
DOID:9004113	Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality	skos:exactMatch	MIM:225310	EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY	semapv:ManualMappingCuration	
DOID:9004114	Ophthalmomandibulomelic Dysplasia	skos:exactMatch	MIM:164900	OPHTHALMOMANDIBULOMELIC DYSPLASIA	semapv:ManualMappingCuration	
DOID:9004115	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES	skos:exactMatch	MIM:620732	Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities	semapv:ManualMappingCuration	2024-05-24
DOID:9004119	Richieri Costa Pereira Syndrome	skos:exactMatch	MIM:268305	Robin sequence with cleft mandible and limb anomalies	semapv:ManualMappingCuration	2014-10-20
DOID:9004122	Focal Facial Dermal Dysplasia 2	skos:exactMatch	MIM:614973	FOCAL FACIAL DERMAL DYSPLASIA 2, BRAUER-SETLEIS TYPE	semapv:ManualMappingCuration	2021-12-08
DOID:9004123	Beemer Ertbruggen Syndrome	skos:exactMatch	MIM:209970	BEEMER LETHAL MALFORMATION SYNDROME	semapv:ManualMappingCuration	
DOID:9004125	Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas	skos:exactMatch	MIM:140850	HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE	semapv:ManualMappingCuration	2019-07-08
DOID:9004127	Corneal Dystrophy, Fuchs Endothelial, 4	skos:exactMatch	MIM:613268	Corneal dystrophy, Fuchs endothelial, 4	semapv:ManualMappingCuration	2017-10-03
DOID:9004131	NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES	skos:exactMatch	MIM:619989	Neurodevelopmental disorder with speech delay and variable ocular anomalies	semapv:ManualMappingCuration	2022-12-15
DOID:9004132	Short Stature Syndrome, Brussels Type	skos:exactMatch	MIM:601350	SHORT STATURE SYNDROME, BRUSSELS TYPE	semapv:ManualMappingCuration	
DOID:9004134	Cervical Rib Syndrome	skos:exactMatch	MIM:117900	CERVICAL RIB	semapv:ManualMappingCuration	2022-11-29
DOID:9004138	Spastic Paraplegia with Associated Extrapyramidal Signs	skos:exactMatch	MIM:182800	SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS	semapv:ManualMappingCuration	2022-11-29
DOID:9004140	Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal	skos:exactMatch	MIM:603117	SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY, AND XY SEX REVERSAL	semapv:ManualMappingCuration	
DOID:9004144	AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS	skos:exactMatch	MIM:301060	?Azoospermia, obstructive, with nephrolithiasis	semapv:ManualMappingCuration	2021-04-06
DOID:9004148	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	skos:exactMatch	MIM:600561	SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY	semapv:ManualMappingCuration	
DOID:9004149	Preaxial Polydactyly III	skos:exactMatch	MIM:174600	POLYDACTYLY, PREAXIAL III	semapv:ManualMappingCuration	2020-07-15
DOID:9004156	Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities	skos:exactMatch	MIM:273390	TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES	semapv:ManualMappingCuration	2019-06-04
DOID:9004159	Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase	skos:exactMatch	MIM:131880	EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE	semapv:ManualMappingCuration	
DOID:9004161	Mental Retardation, Skeletal Dysplasia, and Abducens Palsy	skos:exactMatch	MIM:309620	Intellectual developmental disorder, X-linked, with skeletal dysplasia and abducens palsy	semapv:ManualMappingCuration	2017-10-03
DOID:9004162	BILE ACID CONJUGATION DEFECT 1	skos:exactMatch	MIM:619232	Bile acid conjugation defect 1	semapv:ManualMappingCuration	2021-05-11
DOID:9004163	Internal Anal Sphincter Myopathy	skos:exactMatch	MIM:105565	ANAL SPHINCTER MYOPATHY, INTERNAL	semapv:ManualMappingCuration	
DOID:9004166	Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis	skos:exactMatch	MIM:166910	OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS	semapv:ManualMappingCuration	
DOID:9004167	Glaucoma 1, Open Angle, M	skos:exactMatch	MIM:610535	Glaucoma 1, open angle, M	semapv:ManualMappingCuration	2017-10-03
DOID:9004168	Zechi-Ceide Syndrome	skos:exactMatch	MIM:612916	ZECHI-CEIDE SYNDROME	semapv:ManualMappingCuration	
DOID:9004170	Macular Dystrophy with Central Cone Involvement	skos:exactMatch	MIM:616170	Macular dystrophy with central cone involvement	semapv:ManualMappingCuration	2015-09-21
DOID:9004171	Spinal Muscular Atrophy with Congenital Bone Fractures	skos:exactMatch	MIM:PS616866	Spinal muscular atrophy with congenital bone fractures 1	semapv:ManualMappingCuration	2019-03-26
DOID:9004172	Epilepsy, Occipital Calcifications	skos:exactMatch	MIM:226810	EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS	semapv:ManualMappingCuration	2022-11-21
DOID:9004173	Distal Osteosclerosis	skos:exactMatch	MIM:126250	DISTAL OSTEOSCLEROSIS	semapv:ManualMappingCuration	2022-12-06
DOID:9004174	Inosine Triphosphatase Deficiency	skos:exactMatch	MIM:613850	[Inosine triphosphatase deficiency]	semapv:ManualMappingCuration	2017-10-10
DOID:9004175	Microcephaly, Epilepsy, and Diabetes Syndrome 1	skos:exactMatch	MIM:614231	Microcephaly, epilepsy, and diabetes syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9004176	Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes	skos:exactMatch	MIM:242870	null	semapv:ManualMappingCuration	2019-06-14
DOID:9004177	Carabelli Anomaly of Maxillary Molar Teeth	skos:exactMatch	MIM:114700	CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH	semapv:ManualMappingCuration	
DOID:9004179	Immunodeficiency 97 with Autoinflammation	skos:exactMatch	MIM:619802	Immunodeficiency 97 with autoinflammation	semapv:ManualMappingCuration	2022-04-11
DOID:9004180	Aquaporin 1 Deficiency	skos:exactMatch	MIM:110450	[Aquaporin-1 deficiency]	semapv:ManualMappingCuration	
DOID:9004181	Hypospadias 4	skos:exactMatch	MIM:300856	{Hypospadias 4, X-linked, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:9004182	CHITOTRIOSIDASE DEFICIENCY	skos:exactMatch	MIM:614122	[Chitotriosidase deficiency]	semapv:ManualMappingCuration	2017-02-27
DOID:9004188	Joubert Syndrome 39	skos:exactMatch	MIM:619562	Joubert syndrome 39	semapv:ManualMappingCuration	2021-10-15
DOID:9004189	T-Cell Lymphoma 1A	skos:exactMatch	MIM:186960	Leukemia/lymphoma, T-cell	semapv:ManualMappingCuration	
DOID:9004191	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA	skos:exactMatch	MIM:617364	Congenital heart defects and ectodermal dysplasia	semapv:ManualMappingCuration	2017-06-13
DOID:9004192	Arthrogryposis, X-Linked, Type V	skos:exactMatch	MIM:300158	ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED	semapv:ManualMappingCuration	2014-06-23
DOID:9004193	Desmosterolosis	skos:exactMatch	MIM:602398	Desmosterolosis	semapv:ManualMappingCuration	2017-10-03
DOID:9004195	Bor-Duane Hydrocephalus Contiguous Gene Syndrome	skos:exactMatch	MIM:600257	Bor-Duane hydrocephalus contiguous gene syndrome	semapv:ManualMappingCuration	
DOID:9004196	Leber Optic Atrophy, Susceptibility To	skos:exactMatch	MIM:308905	{Leber hereditary optic neuropathy, modifier of}	semapv:ManualMappingCuration	2017-10-03
DOID:9004199	Hodgkin Disease, X-Linked Pseudoautosomal	skos:exactMatch	MIM:300221	{Hodgkin disease susceptibility, pseudoautosomal}	semapv:ManualMappingCuration	2017-10-03
DOID:9004200	Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias	skos:exactMatch	MIM:179250	RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA	semapv:ManualMappingCuration	
DOID:9004204	Tracheobronchopathia Osteoplastica	skos:exactMatch	MIM:189961	TRACHEOPATHIA OSTEOPLASTICA	semapv:ManualMappingCuration	
DOID:9004206	Thyroglossal Tract Cyst	skos:exactMatch	MIM:188455	THYROGLOSSAL DUCT CYST, FAMILIAL	semapv:ManualMappingCuration	
DOID:9004209	Bone Fragility with Contractures, Arterial Rupture, and Deafness	skos:exactMatch	MIM:612394	BCARD syndrome (lysyl hydroxylase 3 deficiency)	semapv:ManualMappingCuration	2017-10-03
DOID:9004212	Mitochondrial Myopathy, Lethal Infantile	skos:exactMatch	MIM:551000	MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE	semapv:ManualMappingCuration	2017-10-03
DOID:9004213	Pachyonychia Congenita 2	skos:exactMatch	MIM:167210	Pachyonychia congenita 2	semapv:ManualMappingCuration	2017-10-03
DOID:9004216	PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME	skos:exactMatch	MIM:620005	Primordial dwarfism-immunodeficiency-lipodystrophy syndrome	semapv:ManualMappingCuration	2022-12-19
DOID:9004219	Malformation of Arms	skos:exactMatch	MIM:107900	ARMS, MALFORMATION OF	semapv:ManualMappingCuration	
DOID:9004220	Adams-Oliver Syndrome 1	skos:exactMatch	MIM:100300	Adams-Oliver syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9004221	Senior-Loken Syndrome 5	skos:exactMatch	MIM:609254	Senior-Loken syndrome 5	semapv:ManualMappingCuration	2017-10-03
DOID:9004222	CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME	skos:exactMatch	MIM:617602	Congenital heart defects and skeletal malformations syndrome	semapv:ManualMappingCuration	2020-09-08
DOID:9004224	Mitochondrial Complex II Deficiency Nuclear Type 4	skos:exactMatch	MIM:619224	Mitochondrial complex II deficiency, nuclear type 4	semapv:ManualMappingCuration	2021-03-09
DOID:9004225	Keratoconus 7	skos:exactMatch	MIM:614629	Keratoconus 7	semapv:ManualMappingCuration	2018-02-07
DOID:9004230	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:619595	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	semapv:ManualMappingCuration	2022-02-04
DOID:9004233	Olivopontocerebellar Atrophy II, Autosomal Recessive	skos:exactMatch	MIM:258300	CEREBELLAR ATAXIA AND ALBINISM	semapv:ManualMappingCuration	
DOID:9004234	Baby Rattle Pelvis Dysplasia	skos:exactMatch	MIM:605838	BABY RATTLE PELVIS DYSPLASIA	semapv:ManualMappingCuration	
DOID:9004235	Familial Spinal Arachnoiditis	skos:exactMatch	MIM:182950	SPINAL ARACHNOIDITIS	semapv:ManualMappingCuration	2022-11-14
DOID:9004239	Cousin Syndrome	skos:exactMatch	MIM:260660	Cousin syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:9004241	Infantile Myofibromatosis 1	skos:exactMatch	MIM:228550	Myofibromatosis, infantile, 1	semapv:ManualMappingCuration	2014-10-20
DOID:9004243	Muller Barth Menger Syndrome	skos:exactMatch	MIM:213820	CEREBRAL MALFORMATION, SEIZURES, HYPERTRICHOSIS, AND OVERLAPPING FINGERS	semapv:ManualMappingCuration	
DOID:9004244	Polyendocrine-Polyneuropathy Syndrome	skos:exactMatch	MIM:616113	?Polyendocrine-polyneuropathy syndrome	semapv:ManualMappingCuration	2015-03-10
DOID:9004247	Craniofaciofrontodigital Syndrome	skos:exactMatch	MIM:114620	CRANIOFACIOFRONTODIGITAL SYNDROME	semapv:ManualMappingCuration	
DOID:9004256	Rozin Hertz Goodman Syndrome	skos:exactMatch	MIM:602612	CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE	semapv:ManualMappingCuration	
DOID:9004260	Zimmerman Laband Syndrome	skos:exactMatch	MIM:PS135500	Zimmermann-Laband syndrome 1	semapv:ManualMappingCuration	2019-03-19
DOID:9004263	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY	skos:exactMatch	MIM:619639	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	semapv:ManualMappingCuration	2022-02-10
DOID:9004270	Generalized Epidermolysis Bullosa Simplex 2B	skos:exactMatch	MIM:619588	Epidermolysis bullosa simplex 2B, generalized intermediate	semapv:ManualMappingCuration	2021-11-03
DOID:9004276	Thrombocythemia 3	skos:exactMatch	MIM:614521	Thrombocythemia 3	semapv:ManualMappingCuration	2014-09-02
DOID:9004277	Lessel-Kubisch Syndrome	skos:exactMatch	MIM:618681	?Lessel-Kubisch syndrome	semapv:ManualMappingCuration	2020-01-10
DOID:9004285	Paroxysmal Nocturnal Hemoglobinuria 1	skos:exactMatch	MIM:300818	Paroxysmal nocturnal hemoglobinuria, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:9004290	Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination	skos:exactMatch	MIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	semapv:ManualMappingCuration	2017-06-19
DOID:9004291	Osteootohepatoenteric Syndrome	skos:exactMatch	MIM:619377	Osteootohepatoenteric syndrome	semapv:ManualMappingCuration	2021-06-11
DOID:9004292	MOMES Syndrome	skos:exactMatch	MIM:606772	IMPAIRED INTELLECTUAL DEVELOPMENT, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN ANOMALIES	semapv:ManualMappingCuration	2022-12-06
DOID:9004293	Congenital Ptosis, Hereditary 2	skos:exactMatch	MIM:300245	Ptosis, hereditary congenital 2	semapv:ManualMappingCuration	2017-10-03
DOID:9004295	Periventricular Nodular Heterotopia 6	skos:exactMatch	MIM:615544	?Periventricular nodular heterotopia 6	semapv:ManualMappingCuration	2014-09-09
DOID:9004296	Hypokalemic Periodic Paralysis, Type 1	skos:exactMatch	MIM:170400	Hypokalemic periodic paralysis, type 1	semapv:ManualMappingCuration	2014-06-23
DOID:9004298	Prostate Cancer/Brain Cancer Susceptibility	skos:exactMatch	MIM:603688	{Prostate cancer/brain cancer susceptibility, somatic}	semapv:ManualMappingCuration	2014-06-23
DOID:9004300	Urioste Martinez-Frias Syndrome	skos:exactMatch	MIM:235255	MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY	semapv:ManualMappingCuration	
DOID:9004307	Alazami Syndrome	skos:exactMatch	MIM:615071	Alazami syndrome	semapv:ManualMappingCuration	2014-09-02
DOID:9004309	Congenital Aural Atresia	skos:exactMatch	MIM:607842	Aural atresia, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:9004310	Snijders Blok-Fisher Syndrome	skos:exactMatch	MIM:618604	Snijders Blok-Fisher syndrome	semapv:ManualMappingCuration	2019-11-14
DOID:9004313	Epidermodysplasia Verruciformis 5	skos:exactMatch	MIM:618309	{?Epidermodysplasia verruciformis, susceptibility to, 5}	semapv:ManualMappingCuration	2019-02-13
DOID:9004314	Short-Rib Thoracic Dysplasia 15 with Polydactyly	skos:exactMatch	MIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	semapv:ManualMappingCuration	2016-09-12
DOID:9004315	Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease	skos:exactMatch	MIM:209010	ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS, PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE	semapv:ManualMappingCuration	
DOID:9004316	Oculocerebrocutaneous Syndrome	skos:exactMatch	MIM:164180	OCULOCEREBROCUTANEOUS SYNDROME	semapv:ManualMappingCuration	
DOID:9004318	Nonphotosensitive Trichothiodystrophy 9	skos:exactMatch	MIM:619692	?Trichothiodystrophy 9, nonphotosensitive	semapv:ManualMappingCuration	2022-01-06
DOID:9004322	Craniosynostosis with Anomalies of the Cranial Base and Digits	skos:exactMatch	MIM:218530	CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS	semapv:ManualMappingCuration	
DOID:9004330	Pubic Bone Dysplasia	skos:exactMatch	MIM:178350	PUBIC BONE DYSPLASIA	semapv:ManualMappingCuration	
DOID:9004333	Hunter-Macdonald Syndrome	skos:exactMatch	MIM:611962	HUNTER-MACDONALD SYNDROME	semapv:ManualMappingCuration	2022-11-21
DOID:9004335	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	skos:exactMatch	MIM:607161	MULTIPLE CONGENITAL ANOMALIES SYNDROME WITH CLOVERLEAF SKULL	semapv:ManualMappingCuration	
DOID:9004336	neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities	skos:exactMatch	MIM:616577	Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities	semapv:ManualMappingCuration	2015-11-10
DOID:9004338	Advanced Sleep Phase Syndrome 4, Familial	skos:exactMatch	MIM:620015	?Advance sleep phase syndrome, familial, 4	semapv:ManualMappingCuration	2022-08-24
DOID:9004339	Dyschromatosis Universalis Hereditaria 2	skos:exactMatch	MIM:612715	Dyschromatosis universalis hereditaria 2	semapv:ManualMappingCuration	2017-10-03
DOID:9004343	Craniofacial Dyssynostosis	skos:exactMatch	MIM:218350	CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE	semapv:ManualMappingCuration	
DOID:9004345	Isobutyryl-CoA Dehydrogenase Deficiency	skos:exactMatch	MIM:611283	Isobutyryl-CoA dehydrogenase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9004346	Retinitis Pigmentosa Inversa with Deafness	skos:exactMatch	MIM:268010	RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS	semapv:ManualMappingCuration	
DOID:9004356	Smith-Kingsmore Syndrome	skos:exactMatch	MIM:616638	Smith-Kingsmore syndrome	semapv:ManualMappingCuration	2015-12-08
DOID:9004357	Spinal Muscular Atrophy, Infantile, James Type	skos:exactMatch	MIM:619042	Spinal muscular atrophy, infantile, James type	semapv:ManualMappingCuration	2020-10-19
DOID:9004358	Candidiasis, Familial, 3	skos:exactMatch	MIM:607644	Candidiasis, familial, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9004360	RAUCH-STEINDL SYNDROME	skos:exactMatch	MIM:619695	Rauch-Steindl syndrome	semapv:ManualMappingCuration	2022-03-25
DOID:9004361	Jung Wolff Back Stahl Syndrome	skos:exactMatch	MIM:601427	ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS	semapv:ManualMappingCuration	2022-12-16
DOID:9004364	Meckel Syndrome 10	skos:exactMatch	MIM:614175	Joubert syndrome 34	semapv:ManualMappingCuration	2014-09-09
DOID:9004365	Senior-Loken Syndrome 1	skos:exactMatch	MIM:266900	Senior-Loken syndrome-1	semapv:ManualMappingCuration	2017-10-03
DOID:9004366	Congenital Muscular Dystrophy with Cerebellar Atrophy	skos:exactMatch	MIM:603323	MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY	semapv:ManualMappingCuration	
DOID:9004370	Infantile Hypertrophic Pyloric Stenosis 1	skos:exactMatch	MIM:179010	Pyloric stenosis, infantile hypertrophic 1	semapv:ManualMappingCuration	2017-10-03
DOID:9004371	Ankyloblepharon Filiforme Adnatum	skos:exactMatch	MIM:106250	ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE	semapv:ManualMappingCuration	2017-10-03
DOID:9004376	Progressive Pallidal Degeneration with Retinitis Pigmentosa	skos:exactMatch	MIM:260200	PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA	semapv:ManualMappingCuration	2020-09-25
DOID:9004378	Postaxial Polydactyly, Type A4	skos:exactMatch	MIM:608562	Polydactyly, postaxial, type A4	semapv:ManualMappingCuration	2017-10-03
DOID:9004387	Isolated Microphthalmia with Coloboma 5	skos:exactMatch	MIM:611638	Microphthalmia/coloboma 5	semapv:ManualMappingCuration	2017-10-03
DOID:9004393	Hemihyperplasia, Isolated	skos:exactMatch	MIM:235000	Hemihypertrophy	semapv:ManualMappingCuration	2017-10-03
DOID:9004396	Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type	skos:exactMatch	MIM:118230	CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE	semapv:ManualMappingCuration	2018-08-22
DOID:9004407	Permanent Neonatal Diabetes Mellitus 4	skos:exactMatch	MIM:618858	Diabetes mellitus, permanent neonatal 4	semapv:ManualMappingCuration	2020-05-01
DOID:9004414	Atopic Dermatitis 1	skos:exactMatch	MIM:603165	{Dermatitis, atopic, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:9004415	Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis	skos:exactMatch	MIM:600273	Polycystic kidney disease, infantile severe, with tuberous sclerosis	semapv:ManualMappingCuration	2017-10-03
DOID:9004419	Pseudotrisomy 13 Syndrome	skos:exactMatch	MIM:264480	PSEUDOTRISOMY 13 SYNDROME	semapv:ManualMappingCuration	
DOID:9004420	Periventricular Nodular Heterotopia 5	skos:exactMatch	MIM:612881	Periventricular nodular heterotopia 5	semapv:ManualMappingCuration	2017-10-03
DOID:9004424	Syndactyly-Polydactyly-Earlobe Syndrome	skos:exactMatch	MIM:186350	SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME	semapv:ManualMappingCuration	
DOID:9004426	Lethal Congenital Contracture Syndrome 5	skos:exactMatch	MIM:615368	Lethal congenital contracture syndrome 5	semapv:ManualMappingCuration	2014-09-09
DOID:9004430	Hyperhidrosis Palmaris Et Plantaris	skos:exactMatch	MIM:144110	Hyperhidrosis palmaris et plantaris	semapv:ManualMappingCuration	
DOID:9004433	Hamartoma, Precalcaneal Congenital Fibrolipomatous	skos:exactMatch	MIM:609808	HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS	semapv:ManualMappingCuration	2022-12-16
DOID:9004434	WHITE-KERNOHAN SYNDROME	skos:exactMatch	MIM:619426	White-Kernohan syndrome	semapv:ManualMappingCuration	2021-08-26
DOID:9004435	Erythropoietic Protoporphyria 1	skos:exactMatch	MIM:177000	Protoporphyria, erythropoietic, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9004436	Atelosteogenesis Type 3	skos:exactMatch	MIM:108721	Atelosteogenesis, type III	semapv:ManualMappingCuration	2014-06-23
DOID:9004437	Nonkeratan-Sulfate-Excreting Morquio Syndrome	skos:exactMatch	MIM:252300	MORQUIO SYNDROME C	semapv:ManualMappingCuration	
DOID:9004438	Neutral Lipid Storage Disease with Myopathy	skos:exactMatch	MIM:610717	Neutral lipid storage disease with myopathy	semapv:ManualMappingCuration	2017-10-03
DOID:9004439	Congenital Lp(A) Deficiency	skos:exactMatch	MIM:152200	[LPA deficiency, congenital]	semapv:ManualMappingCuration	2014-10-20
DOID:9004444	Senior-Loken Syndrome 8	skos:exactMatch	MIM:616307	Senior-Loken syndrome 8	semapv:ManualMappingCuration	2017-04-04
DOID:9004445	Macroepiphyseal Dysplasia, McAlister Coe Type	skos:exactMatch	MIM:248010	MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGED APPEARANCE	semapv:ManualMappingCuration	
DOID:9004446	Alazami-Yuan Syndrome	skos:exactMatch	MIM:617126	Alazami-Yuan syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:9004450	Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)	skos:exactMatch	MIM:613710	Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)	semapv:ManualMappingCuration	2014-09-02
DOID:9004453	Orthostatic Intolerance	skos:exactMatch	MIM:604715	?Orthostatic intolerance	semapv:ManualMappingCuration	2017-10-03
DOID:9004454	Multinodular Goiter 1	skos:exactMatch	MIM:138800	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors	semapv:ManualMappingCuration	2014-06-23
DOID:9004461	Familial Persistent Stuttering 2	skos:exactMatch	MIM:609261	Stuttering, familial persistent, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9004465	Progressive Lymphoid System Deterioration	skos:exactMatch	MIM:247630	LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE	semapv:ManualMappingCuration	
DOID:9004467	Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment	skos:exactMatch	MIM:620066	Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment	semapv:ManualMappingCuration	2022-11-21
DOID:9004468	Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart	skos:exactMatch	MIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	semapv:ManualMappingCuration	2016-07-12
DOID:9004470	Craniosynostosis 4	skos:exactMatch	MIM:600775	Craniosynostosis 4	semapv:ManualMappingCuration	2017-10-03
DOID:9004471	VISS syndrome	skos:exactMatch	MIM:619472	VISS syndrome	semapv:ManualMappingCuration	2021-10-21
DOID:9004472	Mental Health Wellness 2	skos:exactMatch	MIM:603664	{Mental health wellness-2}	semapv:ManualMappingCuration	2014-06-23
DOID:9004474	Bilateral Medial Tibial Torsion	skos:exactMatch	MIM:188800	TIBIAL TORSION, BILATERAL MEDIAL	semapv:ManualMappingCuration	
DOID:9004481	Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type	skos:exactMatch	MIM:154570	MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE	semapv:ManualMappingCuration	2022-11-14
DOID:9004488	Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality	skos:exactMatch	MIM:219721	CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9004489	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY	skos:exactMatch	MIM:619196	Deafness, congenital, and adult-onset progressive leukoencephalopathy	semapv:ManualMappingCuration	2021-04-06
DOID:9004490	Rhizomelic Syndrome	skos:exactMatch	MIM:268250	RHIZOMELIC SYNDROME	semapv:ManualMappingCuration	
DOID:9004495	Faciocardiorenal Syndrome	skos:exactMatch	MIM:227280	FACIOCARDIORENAL SYNDROME	semapv:ManualMappingCuration	
DOID:9004496	Hypertaurinuric Cardiomyopathy	skos:exactMatch	MIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy	semapv:ManualMappingCuration	
DOID:9004499	Noncirrhotic Portal Hypertension 2	skos:exactMatch	MIM:619463	Portal hypertension, noncirrhotic, 2	semapv:ManualMappingCuration	2021-08-06
DOID:9004500	Mesomelic Dysplasia, Savarirayan Type	skos:exactMatch	MIM:605274	MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE	semapv:ManualMappingCuration	
DOID:9004502	Patterson Pseudoleprechaunism Syndrome	skos:exactMatch	MIM:169170	PATTERSON PSEUDOLEPRECHAUNISM SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9004504	Bonneau Syndrome	skos:exactMatch	MIM:263630	POLYSYNDACTYLY WITH CARDIAC MALFORMATION	semapv:ManualMappingCuration	2022-12-06
DOID:9004505	Visceral Heterotaxy 3, Autosomal	skos:exactMatch	MIM:606325	?Heterotaxy, visceral, 3, autosomal	semapv:ManualMappingCuration	2017-10-03
DOID:9004506	VITAMIN D-DEPENDENT RICKETS, TYPE 3	skos:exactMatch	MIM:619073	Vitamin D-dependent rickets, type 3	semapv:ManualMappingCuration	2020-10-27
DOID:9004509	Otoonychoperoneal Syndrome	skos:exactMatch	MIM:259780	OTOONYCHOPERONEAL SYNDROME	semapv:ManualMappingCuration	
DOID:9004510	Microgastria Limb Reduction Defect	skos:exactMatch	MIM:156810	MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION	semapv:ManualMappingCuration	
DOID:9004511	Congenital Disorder of Glycosylation Type IIz	skos:exactMatch	MIM:620201	?Congenital disorder of glycosylation, type IIz	semapv:ManualMappingCuration	2023-01-20
DOID:9004512	Craniosynostosis 2	skos:exactMatch	MIM:604757	Craniosynostosis 2	semapv:ManualMappingCuration	2017-10-03
DOID:9004513	Craniosynostosis with Ocular Abnormalities and Hallucal Defects	skos:exactMatch	MIM:608279	CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS	semapv:ManualMappingCuration	
DOID:9004514	Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia	skos:exactMatch	MIM:606049	Acromegaloid features, overgrowth, cleft palate, and hernia	semapv:ManualMappingCuration	2017-10-03
DOID:9004515	Left Ventricular Noncompaction 7	skos:exactMatch	MIM:615092	Left ventricular noncompaction 7	semapv:ManualMappingCuration	2014-09-09
DOID:9004516	Progressive Deafness with Stapes Fixation	skos:exactMatch	MIM:601449	DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION	semapv:ManualMappingCuration	
DOID:9004519	Congenital Stationary Night Blindness 1I	skos:exactMatch	MIM:618555	Night blindness, congenital stationary, type 1I	semapv:ManualMappingCuration	2019-09-03
DOID:9004521	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures	skos:exactMatch	MIM:618725	Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	semapv:ManualMappingCuration	2020-02-14
DOID:9004522	Pallister W Syndrome	skos:exactMatch	MIM:311450	PALLISTER W SYNDROME	semapv:ManualMappingCuration	
DOID:9004527	YAO SYNDROME	skos:exactMatch	MIM:617321	{Yao syndrome}	semapv:ManualMappingCuration	2021-01-21
DOID:9004529	Presbycusis 2	skos:exactMatch	MIM:612976	{Age-related hearing impairment 2}	semapv:ManualMappingCuration	2017-10-03
DOID:9004532	Restless Legs Syndrome 2	skos:exactMatch	MIM:608831	{Restless legs syndrome 2}	semapv:ManualMappingCuration	2017-10-03
DOID:9004533	Orthostatic Hypotensive Disorder, Streeten Type	skos:exactMatch	MIM:143850	Orthostatic hypotensive disorder of Streeten	semapv:ManualMappingCuration	2017-10-03
DOID:9004540	Islet Cell Adenomatosis	skos:exactMatch	MIM:147630	Insulinomatosis and diabetes mellitus	semapv:ManualMappingCuration	
DOID:9004543	NEUROOCULAR SYNDROME 1	skos:exactMatch	MIM:619539	Neuroocular syndrome	semapv:ManualMappingCuration	2021-10-22
DOID:9004546	Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies	skos:exactMatch	MIM:607597	MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES	semapv:ManualMappingCuration	2022-12-06
DOID:9004548	Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities	skos:exactMatch	MIM:619026	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	semapv:ManualMappingCuration	2020-12-15
DOID:9004553	NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE	skos:exactMatch	MIM:620636	Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline	semapv:ManualMappingCuration	2024-03-04
DOID:9004554	Developmental and Epileptic Encephalopathy 111	skos:exactMatch	MIM:620504	Developmental and epileptic encephalopathy 111	semapv:ManualMappingCuration	2023-09-22
DOID:9004555	Retinal Degeneration and Epilepsy	skos:exactMatch	MIM:267740	RETINAL DEGENERATION AND EPILEPSY	semapv:ManualMappingCuration	2022-12-06
DOID:9004566	Lambert Syndrome	skos:exactMatch	MIM:245550	LAMBERT SYNDROME	semapv:ManualMappingCuration	
DOID:9004567	Short Stature and Microcephaly with Genital Anomalies	skos:exactMatch	MIM:618702	?Short stature and microcephaly with genital anomalies	semapv:ManualMappingCuration	2019-12-30
DOID:9004570	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation	skos:exactMatch	MIM:608227	CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL NEURAL TUBE DEFECTS, AND GROWTH AND DEVELOPMENTAL RETARDATION	semapv:ManualMappingCuration	
DOID:9004572	Dentinogenesis Imperfecta, Shields Type 3	skos:exactMatch	MIM:125500	Dentinogenesis imperfecta, Shields type III	semapv:ManualMappingCuration	2017-10-03
DOID:9004577	Stuve-Wiedemann Syndrome	skos:exactMatch	MIM:PS601559	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome	semapv:ManualMappingCuration	2022-08-15
DOID:9004578	Bowen Syndrome	skos:exactMatch	MIM:211200	BOWEN SYNDROME OF MULTIPLE MALFORMATIONS	semapv:ManualMappingCuration	2022-11-28
DOID:9004579	Spastic Pseudosclerosis	skos:exactMatch	MIM:270900	SPASTIC PSEUDOSCLEROSIS	semapv:ManualMappingCuration	
DOID:9004582	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY	skos:exactMatch	MIM:619657	Congenital heart defects, multiple types, 8, with or without heterotaxy	semapv:ManualMappingCuration	2022-02-03
DOID:9004583	Ataxia Telangiectasia Like Disorder	skos:exactMatch	MIM:PS604391	Ataxia-telangiectasia-like disorder 1	semapv:ManualMappingCuration	2019-03-15
DOID:9004584	Myopia 28	skos:exactMatch	MIM:619781	Myopia 28, autosomal recessive	semapv:ManualMappingCuration	2022-03-08
DOID:9004585	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:619243	Global developmental delay with speech and behavioral abnormalities	semapv:ManualMappingCuration	2021-05-13
DOID:9004587	Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2	skos:exactMatch	MIM:619016	Ichthyosis, follicular, with atrichia and photophobia syndrome 2	semapv:ManualMappingCuration	2020-09-14
DOID:9004591	Partington Anderson Syndrome	skos:exactMatch	MIM:260555	PARTINGTON-ANDERSON SYNDROME	semapv:ManualMappingCuration	
DOID:9004592	Oocyte/Zygote/Embryo Maturation Arrest 13	skos:exactMatch	MIM:620154	Oocyte/zygote/embryo maturation arrest 13	semapv:ManualMappingCuration	2022-12-12
DOID:9004599	Microcephaly with Cervical Spine Fusion Anomalies	skos:exactMatch	MIM:251250	MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES	semapv:ManualMappingCuration	
DOID:9004603	Atkin Syndrome	skos:exactMatch	MIM:300431	ATKIN-FLAITZ SYNDROME	semapv:ManualMappingCuration	2018-09-04
DOID:9004604	Autoinflammation with Episodic Fever and Lymphadenopathy	skos:exactMatch	MIM:618852	Autoinflammation with episodic fever and lymphadenopathy	semapv:ManualMappingCuration	2020-07-06
DOID:9004607	Diaphragmatic Hernia 2	skos:exactMatch	MIM:222400	Diaphragmatic hernia 2	semapv:ManualMappingCuration	2017-10-03
DOID:9004612	N-Acetylaspartate Deficiency	skos:exactMatch	MIM:614063	?N-acetylaspartate deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:9004614	Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	skos:exactMatch	MIM:601375	ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE	semapv:ManualMappingCuration	
DOID:9004615	Metachromatic Leukodystrophy due to Saposin B Deficiency	skos:exactMatch	MIM:249900	Metachromatic leukodystrophy due to SAP-b deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9004617	Taurodontism, Microdontia, and Dens Invaginatus	skos:exactMatch	MIM:313490	Taurodontism, microdontia, and dens invaginatus	semapv:ManualMappingCuration	
DOID:9004618	Gallbladder Disease 1	skos:exactMatch	MIM:600803	Gallbladder disease 1	semapv:ManualMappingCuration	2014-06-23
DOID:9004619	Pacman Dysplasia	skos:exactMatch	MIM:167220	PACMAN DYSPLASIA	semapv:ManualMappingCuration	
DOID:9004628	Ohdo Syndrome, X-Linked	skos:exactMatch	MIM:300895	Ohdo syndrome, X-linked	semapv:ManualMappingCuration	2014-09-02
DOID:9004629	Gingival Fibromatosis 4	skos:exactMatch	MIM:611010	Fibromatosis, gingival, 4	semapv:ManualMappingCuration	2017-10-03
DOID:9004632	Hereditary Hemorrhagic Telangiectasia, Type 3	skos:exactMatch	MIM:601101	Telangiectasia, hereditary hemorrhagic, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:9004633	Autosomal Recessive Osteopetrosis 9	skos:exactMatch	MIM:620366	?Osteopetrosis, autosomal recessive 9	semapv:ManualMappingCuration	2023-05-10
DOID:9004635	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY	skos:exactMatch	MIM:619157	Neurodevelopmental disorder with or without early-onset generalized epilepsy	semapv:ManualMappingCuration	2021-02-16
DOID:9004636	Specific Language Impairment 5	skos:exactMatch	MIM:615432	{Specific language impairment 5}	semapv:ManualMappingCuration	2015-07-07
DOID:9004637	Autosomal Recessive Intellectual Developmental Disorder 79	skos:exactMatch	MIM:620393	?Intellectual developmental disorder, autosomal recessive 79	semapv:ManualMappingCuration	2023-05-30
DOID:9004640	Kennerknecht Sorgo Oberhoffer Syndrome	skos:exactMatch	MIM:202660	PAGOD SYNDROME	semapv:ManualMappingCuration	2022-11-14
DOID:9004641	Oculodentodigital Dysplasia, Autosomal Recessive	skos:exactMatch	MIM:257850	Oculodentodigital dysplasia, autosomal recessive	semapv:ManualMappingCuration	
DOID:9004642	Camptomelic Syndrome Long Limb Type	skos:exactMatch	MIM:211990	CAMPTOMELIC SYNDROME, LONG-LIMB TYPE	semapv:ManualMappingCuration	
DOID:9004645	Familial Juvenile Hyperuricemic Nephropathy 3	skos:exactMatch	MIM:614227	Hyperuricemic nephropathy, familial juvenile, 3	semapv:ManualMappingCuration	2014-06-23
DOID:9004651	Parana Hard Skin Syndrome	skos:exactMatch	MIM:260530	PARANA HARD-SKIN SYNDROME	semapv:ManualMappingCuration	
DOID:9004653	Hadziselimovic Syndrome	skos:exactMatch	MIM:612946	HADZISELIMOVIC SYNDROME	semapv:ManualMappingCuration	2022-11-21
DOID:9004658	Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction	skos:exactMatch	MIM:268315	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction	semapv:ManualMappingCuration	
DOID:9004666	Major Affective Disorder 4	skos:exactMatch	MIM:611247	Major affective disorder 4	semapv:ManualMappingCuration	2017-10-03
DOID:9004670	Weyers Ulnar Ray/Oligodactyly Syndrome	skos:exactMatch	MIM:602418	WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME	semapv:ManualMappingCuration	
DOID:9004672	Neurocutaneous Melanosis	skos:exactMatch	MIM:249400	Neurocutaneous melanosis, somatic	semapv:ManualMappingCuration	2014-10-20
DOID:9004673	Hearing Loss, Cisplatin-Induced	skos:exactMatch	MIM:613290	{?Hearing loss, cisplatin-induced, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:9004675	Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies	skos:exactMatch	MIM:PS617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	semapv:ManualMappingCuration	2021-02-16
DOID:9004682	Hereditary Painful Callosities	skos:exactMatch	MIM:114140	CALLOSITIES, HEREDITARY PAINFUL	semapv:ManualMappingCuration	
DOID:9004692	Fused Teeth	skos:exactMatch	MIM:147251	INCISORS, FUSED MANDIBULAR	semapv:ManualMappingCuration	2022-11-21
DOID:9004692	Fused Teeth	skos:exactMatch	MIM:273000	TEETH, FUSED	semapv:ManualMappingCuration	
DOID:9004694	Lambotte Syndrome	skos:exactMatch	MIM:245552	LAMBOTTE SYNDROME	semapv:ManualMappingCuration	
DOID:9004695	Intellectual Developmental Disorder with Autism and Speech Delay	skos:exactMatch	MIM:606053	Intellectual developmental disorder with autism and speech delay	semapv:ManualMappingCuration	2017-10-03
DOID:9004696	Neuromuscular Oculoauditory Syndrome	skos:exactMatch	MIM:618733	Neuromuscular disease and ocular or auditory anomalies with or without seizures	semapv:ManualMappingCuration	2020-02-14
DOID:9004698	Morbid Obesity and Spermatogenic Failure	skos:exactMatch	MIM:615703	Morbid obesity and spermatogenic failure	semapv:ManualMappingCuration	2015-07-06
DOID:9004699	Myopia 12	skos:exactMatch	MIM:609995	Myopia 12	semapv:ManualMappingCuration	2017-10-03
DOID:9004703	Optic Atrophy Spastic Paraplegia Syndrome	skos:exactMatch	MIM:311100	OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME	semapv:ManualMappingCuration	
DOID:9004706	Cutis Laxa-Marfanoid Syndrome	skos:exactMatch	MIM:614100	CUTIS LAXA, NEONATAL, WITH MARFANOID PHENOTYPE	semapv:ManualMappingCuration	2022-11-29
DOID:9004709	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA	skos:exactMatch	MIM:619005	Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia	semapv:ManualMappingCuration	2020-12-15
DOID:9004710	Alcohol-Induced Sudden Cardiac Failure	skos:exactMatch	MIM:617223	?Sudden cardiac failure, alcohol-induced	semapv:ManualMappingCuration	2017-10-10
DOID:9004711	Osteosclerosis with Ichthyosis and Fractures	skos:exactMatch	MIM:166740	OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES	semapv:ManualMappingCuration	
DOID:9004712	Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis	skos:exactMatch	MIM:620374	Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis	semapv:ManualMappingCuration	2023-05-30
DOID:9004715	WHIM Syndrome	skos:exactMatch	MIM:PS193670	WHIM syndrome 1	semapv:ManualMappingCuration	2022-09-13
DOID:9004716	Vesicoureteral Reflux 3	skos:exactMatch	MIM:613674	Vesicoureteral reflux 3	semapv:ManualMappingCuration	2017-07-25
DOID:9004718	Congenital Myasthenic Syndrome 25	skos:exactMatch	MIM:618323	Myasthenic syndrome, congenital, 25	semapv:ManualMappingCuration	2019-02-21
DOID:9004721	HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT	skos:exactMatch	MIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	semapv:ManualMappingCuration	2019-10-08
DOID:9004722	Brachydactyly, Coloboma, and Anterior Segment Dysgenesis	skos:exactMatch	MIM:610023	BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS	semapv:ManualMappingCuration	
DOID:9004724	Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism	skos:exactMatch	MIM:606242	Kondoh syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9004726	Perrault Syndrome 4	skos:exactMatch	MIM:615300	Perrault syndrome 4	semapv:ManualMappingCuration	2014-09-09
DOID:9004727	Visceral Heterotaxy 12, Autosomal	skos:exactMatch	MIM:619702	Heterotaxy, visceral, 12, autosomal	semapv:ManualMappingCuration	2022-01-27
DOID:9004734	Microcephaly Deafness Syndrome	skos:exactMatch	MIM:156620	MICROCEPHALY-DEAFNESS SYNDROME	semapv:ManualMappingCuration	
DOID:9004736	Cole-Carpenter Syndrome 2	skos:exactMatch	MIM:616294	Cole-Carpenter syndrome 2	semapv:ManualMappingCuration	2017-02-28
DOID:9004738	Immunodeficiency 82	skos:exactMatch	MIM:619381	Immunodeficiency 82 with systemic inflammation	semapv:ManualMappingCuration	2021-06-23
DOID:9004741	Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia	skos:exactMatch	MIM:225050	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA	semapv:ManualMappingCuration	2022-11-08
DOID:9004743	Neurofaciodigitorenal Syndrome	skos:exactMatch	MIM:256690	NEUROFACIODIGITORENAL SYNDROME	semapv:ManualMappingCuration	
DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES	skos:exactMatch	MIM:616079	?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	semapv:ManualMappingCuration	2017-04-03
DOID:9004746	Spastic Diplegia Infantile Type	skos:exactMatch	MIM:270600	SPASTIC DIPLEGIA AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	2017-10-03
DOID:9004748	Hennekam Lymphangiectasia-Lymphedema Syndrome 3	skos:exactMatch	MIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	semapv:ManualMappingCuration	2019-01-14
DOID:9004749	Omphalocele, Cleft Palate Syndrome Lethal	skos:exactMatch	MIM:258320	OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL	semapv:ManualMappingCuration	
DOID:9004750	Thrombocytopenia with Elevated Serum Iga and Renal Disease	skos:exactMatch	MIM:314000	THROMBOCYTOPENIA WITH ELEVATED SERUM IgA AND RENAL DISEASE	semapv:ManualMappingCuration	
DOID:9004753	Obesity Hypoventilation Syndrome	skos:exactMatch	MIM:257500	OBESITY-HYPOVENTILATION SYNDROME	semapv:ManualMappingCuration	
DOID:9004754	Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia	skos:exactMatch	MIM:608509	ALOPECIA UNIVERSALIS CONGENITA, XY GONADAL DYSGENESIS, AND LARYNGOMALACIA	semapv:ManualMappingCuration	
DOID:9004758	Brain-Lung-Thyroid Syndrome	skos:exactMatch	MIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	semapv:ManualMappingCuration	2017-10-03
DOID:9004759	Familial Actinic Keratosis	skos:exactMatch	MIM:148390	KERATOSIS, FAMILIAL ACTINIC	semapv:ManualMappingCuration	
DOID:9004762	Familial Atrial Fibrillation 8	skos:exactMatch	MIM:613055	{Atrial fibrillation 8, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9004765	Cardioacrofacial Dysplasia 1	skos:exactMatch	MIM:619142	Cardioacrofacial dysplasia 1	semapv:ManualMappingCuration	2021-01-04
DOID:9004766	Familial Hemophagocytic Lymphohistiocytosis 6	skos:exactMatch	MIM:618998	?Immune dysregulation and systemic hyperinflammation syndrome	semapv:ManualMappingCuration	2020-09-02
DOID:9004768	Carey-Fineman-Ziter Syndrome 2	skos:exactMatch	MIM:619941	?Carey-Fineman-Ziter syndrome 2	semapv:ManualMappingCuration	2022-07-01
DOID:9004770	Preaxial Hallucal Polydactyly	skos:exactMatch	MIM:601759	PREAXIAL HALLUCAL POLYDACTYLY	semapv:ManualMappingCuration	
DOID:9004772	Mental Retardation, Microcephaly, Epilepsy, and Coarse Face	skos:exactMatch	MIM:601352	IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, EPILEPSY, AND COARSE FACE	semapv:ManualMappingCuration	
DOID:9004773	Genu Valgum, St Helena Familial	skos:exactMatch	MIM:137370	GENU VALGUM, ST. HELENA FAMILIAL	semapv:ManualMappingCuration	
DOID:9004774	Hyperphosphatemia, Polyuria, and Seizures	skos:exactMatch	MIM:239350	HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES	semapv:ManualMappingCuration	
DOID:9004775	Trichoepitheliomas, Multiple Desmoplastic	skos:exactMatch	MIM:190345	TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC	semapv:ManualMappingCuration	
DOID:9004776	Ectopia Pupillae	skos:exactMatch	MIM:129750	ECTOPIA PUPILLAE	semapv:ManualMappingCuration	2017-10-03
DOID:9004778	Exostoses with Anetodermia and Brachydactyly Type E	skos:exactMatch	MIM:133690	EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E	semapv:ManualMappingCuration	
DOID:9004781	Congenital Ptosis, Hereditary 1	skos:exactMatch	MIM:178300	?Ptosis, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:9004782	Levator-Medial Rectus Synkinesis	skos:exactMatch	MIM:151610	OCULOMOTOR-LEVATOR SYNKINESIS	semapv:ManualMappingCuration	
DOID:9004783	Transient Neonatal Diabetes Mellitus, 1	skos:exactMatch	MIM:601410	{Diabetes mellitus, transient neonatal 1}	semapv:ManualMappingCuration	2017-10-03
DOID:9004787	Familial Horizontal Gaze Palsy with Progressive Scoliosis	skos:exactMatch	MIM:PS607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1	semapv:ManualMappingCuration	2019-03-26
DOID:9004791	Stapes Ankylosis with Broad Thumbs and Toes	skos:exactMatch	MIM:184460	Stapes ankylosis with broad thumbs and toes	semapv:ManualMappingCuration	2020-03-06
DOID:9004792	Familial Mixed Cryoglobulinemia	skos:exactMatch	MIM:123550	CRYOGLOBULINEMIA, FAMILIAL MIXED	semapv:ManualMappingCuration	
DOID:9004793	Brachydactyly, Intraventricular Septal Defect, and Deafness	skos:exactMatch	MIM:602561	BRACHYDACTYLY, INTRAVENTRICULAR SEPTAL DEFECT, AND DEAFNESS	semapv:ManualMappingCuration	
DOID:9004796	Familial Static Ophthalmoplegia	skos:exactMatch	MIM:165000	OPHTHALMOPLEGIA, FAMILIAL STATIC	semapv:ManualMappingCuration	
DOID:9004799	KURY-ISIDOR SYNDROME	skos:exactMatch	MIM:619762	Kury-Isidor syndrome	semapv:ManualMappingCuration	2022-03-21
DOID:9004801	Circumvallate Placenta Syndrome	skos:exactMatch	MIM:215550	CIRCUMVALLATE PLACENTA SYNDROME	semapv:ManualMappingCuration	2022-10-31
DOID:9004806	Thanatophoric Dysplasia, Type II	skos:exactMatch	MIM:187601	Thanatophoric dysplasia, type II	semapv:ManualMappingCuration	2017-10-03
DOID:9004808	Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV	skos:exactMatch	MIM:600384	APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV	semapv:ManualMappingCuration	2020-11-10
DOID:9004811	Vascular Hyalinosis	skos:exactMatch	MIM:277175	VASCULAR HYALINOSIS	semapv:ManualMappingCuration	
DOID:9004813	Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia	skos:exactMatch	MIM:604380	ULNAR RAY DYSGENESIS WITH POSTAXIAL POLYDACTYLY AND RENAL CYSTIC DYSPLASIA	semapv:ManualMappingCuration	
DOID:9004818	Zinc, Elevated Plasma	skos:exactMatch	MIM:194470	ZINC, ELEVATED PLASMA	semapv:ManualMappingCuration	2014-06-23
DOID:9004819	Juvenile Paralysis Agitans of Hunt	skos:exactMatch	MIM:168100	PARALYSIS AGITANS, JUVENILE, OF HUNT	semapv:ManualMappingCuration	2019-04-22
DOID:9004820	Congenital Nonspherocytic Hemolytic Anemia 8	skos:exactMatch	MIM:266120	Anemia, congenital, nonspherocytic hemolytic, 8	semapv:ManualMappingCuration	2017-10-03
DOID:9004822	Hypertrichosis Congenital Generalized X-Linked	skos:exactMatch	MIM:307150	Hypertrichosis, congenital generalized	semapv:ManualMappingCuration	2017-10-03
DOID:9004824	Pseudohypoparathyroidism Type II	skos:exactMatch	MIM:203330	PSEUDOHYPOPARATHYROIDISM, TYPE II	semapv:ManualMappingCuration	2019-04-24
DOID:9004825	Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	skos:exactMatch	MIM:602613	SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL	semapv:ManualMappingCuration	
DOID:9004826	Benign Familial Macrocephaly	skos:exactMatch	MIM:153470	MACROCEPHALY, BENIGN FAMILIAL	semapv:ManualMappingCuration	
DOID:9004827	Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts	skos:exactMatch	MIM:600176	PACHYGYRIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT, SEIZURES, AND ARACHNOID CYSTS	semapv:ManualMappingCuration	2014-06-23
DOID:9004829	Skin/Hair/Eye Pigmentation, Variation In, 6	skos:exactMatch	MIM:210750	[Skin/hair/eye pigmentation 6, blue/green eyes]	semapv:ManualMappingCuration	2022-11-29
DOID:9004830	NEUROCARDIOFACIODIGITAL SYNDROME	skos:exactMatch	MIM:619869	Neurocardiofaciodigital syndrome	semapv:ManualMappingCuration	2022-06-28
DOID:9004832	Congenital Hypomyelinating Neuropathy 2	skos:exactMatch	MIM:618184	Hypomyelinating neuropathy, congenital, 2	semapv:ManualMappingCuration	2019-01-11
DOID:9004833	Kleiner Holmes Syndrome	skos:exactMatch	MIM:234280	HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY	semapv:ManualMappingCuration	
DOID:9004835	Immunodeficiency 75	skos:exactMatch	MIM:619126	Immunodeficiency 75	semapv:ManualMappingCuration	2020-12-31
DOID:9004838	Oocyte/Zygote/Embryo Maturation Arrest 11	skos:exactMatch	MIM:619643	?Oocyte/zygote/embryo maturation arrest 11	semapv:ManualMappingCuration	2021-12-07
DOID:9004839	INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD	skos:exactMatch	MIM:617450	Jansen-de Vries syndrome	semapv:ManualMappingCuration	2017-06-16
DOID:9004841	Dwarfism, Levi Type	skos:exactMatch	MIM:127100	DWARFISM, LEVI TYPE	semapv:ManualMappingCuration	2017-10-03
DOID:9004843	Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1	skos:exactMatch	MIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9004844	Feingold Syndrome 1	skos:exactMatch	MIM:164280	Feingold syndrome 1	semapv:ManualMappingCuration	2018-06-29
DOID:9004846	Craniosynostosis Mental Retardation Clefting Syndrome	skos:exactMatch	MIM:218650	CRANIOSYNOSTOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT-CLEFTING SYNDROME	semapv:ManualMappingCuration	2022-12-05
DOID:9004847	Pseudoaminopterin Syndrome	skos:exactMatch	MIM:600325	AMINOPTERIN SYNDROME SINE AMINOPTERIN	semapv:ManualMappingCuration	
DOID:9004850	Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness	skos:exactMatch	MIM:609057	Epidermolysis bullosa simplex 7, with nephropathy and deafness	semapv:ManualMappingCuration	2017-10-03
DOID:9004852	Sinoatrial Node Dysfunction and Deafness	skos:exactMatch	MIM:614896	Sinoatrial node dysfunction and deafness	semapv:ManualMappingCuration	2014-09-09
DOID:9004853	Myopia 6	skos:exactMatch	MIM:608908	Myopia 6	semapv:ManualMappingCuration	2017-10-03
DOID:9004855	Simosa Cranio Facial Syndrome	skos:exactMatch	MIM:182150	SIMOSA CRANIOFACIAL SYNDROME	semapv:ManualMappingCuration	
DOID:9004856	Ethanolaminosis	skos:exactMatch	MIM:227150	ETHANOLAMINOSIS	semapv:ManualMappingCuration	
DOID:9004857	Pyruvate Dehydrogenase E1-Beta Deficiency	skos:exactMatch	MIM:614111	Pyruvate dehydrogenase E1-beta deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:9004858	Progressive Nephropathy with Deafness	skos:exactMatch	MIM:609469	Nephropathy, progressive, with deafness	semapv:ManualMappingCuration	2017-10-03
DOID:9004859	Dermoodontodysplasia	skos:exactMatch	MIM:125640	DERMOODONTODYSPLASIA	semapv:ManualMappingCuration	
DOID:9004860	Penttinen-Aula Syndrome	skos:exactMatch	MIM:601812	Premature aging syndrome, Penttinen type	semapv:ManualMappingCuration	2017-10-10
DOID:9004863	Van Bogaert-Hozay Syndrome	skos:exactMatch	MIM:277150	VAN BOGAERT-HOZAY SYNDROME	semapv:ManualMappingCuration	
DOID:9004867	Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism	skos:exactMatch	MIM:268020	RETINITIS PIGMENTOSA, DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADISM	semapv:ManualMappingCuration	
DOID:9004868	Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities	skos:exactMatch	MIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	semapv:ManualMappingCuration	2019-07-05
DOID:9004876	Multinodular Goiter 3	skos:exactMatch	MIM:606082	Goiter, multinodular, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9004877	Autosomal Dominant Tubulointerstitial Kidney Disease 5	skos:exactMatch	MIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	semapv:ManualMappingCuration	2017-04-27
DOID:9004878	L-Ferritin Deficiency	skos:exactMatch	MIM:615604	L-ferritin deficiency, dominant and recessive	semapv:ManualMappingCuration	2014-09-09
DOID:9004880	CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA	skos:exactMatch	MIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	semapv:ManualMappingCuration	2017-10-10
DOID:9004881	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy	skos:exactMatch	MIM:619099	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy	semapv:ManualMappingCuration	2020-11-23
DOID:9004883	Pilonidal Sinus	skos:exactMatch	MIM:173000	PILONIDAL SINUS	semapv:ManualMappingCuration	
DOID:9004885	Familial Azotemia	skos:exactMatch	MIM:109160	AZOTEMIA, FAMILIAL	semapv:ManualMappingCuration	
DOID:9004887	Annular Epidermolytic Ichthyosis 1	skos:exactMatch	MIM:607602	Ichthyosis, annular epidermolytic 1	semapv:ManualMappingCuration	2017-10-03
DOID:9004888	Parietal Foramina 1	skos:exactMatch	MIM:168500	Parietal foramina 1	semapv:ManualMappingCuration	2017-10-03
DOID:9004894	Lethal Muscular Hypertonia	skos:exactMatch	MIM:254120	MUSCULAR HYPERTONIA, LETHAL	semapv:ManualMappingCuration	
DOID:9004896	Primary Lateral Sclerosis Juvenile	skos:exactMatch	MIM:606353	Primary lateral sclerosis, juvenile	semapv:ManualMappingCuration	2017-10-03
DOID:9004900	Mesomelic Dwarfism Reinhardt Pfeiffer Type	skos:exactMatch	MIM:191400	ULNA AND FIBULA, HYPOPLASIA OF	semapv:ManualMappingCuration	
DOID:9004901	Impaired intellectual development, anterior maxillary protrusion, and strabismus	skos:exactMatch	MIM:613671	?Impaired intellectual development, anterior maxillary protrusion, and strabismus	semapv:ManualMappingCuration	2014-06-23
DOID:9004904	SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES	skos:exactMatch	MIM:615789	Rothmund-Thomson syndrome, type 3	semapv:ManualMappingCuration	2016-10-18
DOID:9004905	Lethal Congenital Neutropenia with Eosinophilia	skos:exactMatch	MIM:257100	NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA	semapv:ManualMappingCuration	
DOID:9004907	Metaphyseal Chondrodysplasia, Spahr Type	skos:exactMatch	MIM:250400	Metaphyseal dysplasia, Spahr type	semapv:ManualMappingCuration	2017-10-10
DOID:9004908	Optic Atrophy 16	skos:exactMatch	MIM:620629	Optic atrophy 16	semapv:ManualMappingCuration	2023-12-04
DOID:9004909	Immunodeficiency 80	skos:exactMatch	MIM:619313	Immunodeficiency 80 with or without cardiomyopathy	semapv:ManualMappingCuration	2021-05-12
DOID:9004913	ACCES Syndrome	skos:exactMatch	MIM:619959	ACCES syndrome	semapv:ManualMappingCuration	2022-08-29
DOID:9004915	Decreased Urinary Activity of Kallikrein	skos:exactMatch	MIM:615953	[Kallikrein, decreased urinary activity of]	semapv:ManualMappingCuration	2017-10-10
DOID:9004920	Porokeratosis, Disseminated Superficial Actinic, 3	skos:exactMatch	MIM:612293	Porokeratosis 5, disseminated superficial actinic	semapv:ManualMappingCuration	2017-10-03
DOID:9004923	Delpire-McNeill Syndrome	skos:exactMatch	MIM:619083	Delpire-McNeill syndrome	semapv:ManualMappingCuration	2020-11-10
DOID:9004924	Combined Pituitary Hormone Deficiency 3	skos:exactMatch	MIM:221750	Pituitary hormone deficiency, combined, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9004925	Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	skos:exactMatch	MIM:251945	MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT	semapv:ManualMappingCuration	
DOID:9004930	Spinal Muscular Atrophy, Facioscapulohumeral Type	skos:exactMatch	MIM:182970	SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE	semapv:ManualMappingCuration	
DOID:9004933	Idiopathic Basal Ganglia Calcification 5	skos:exactMatch	MIM:615483	Basal ganglia calcification, idiopathic, 5	semapv:ManualMappingCuration	2014-09-09
DOID:9004935	Thiourea Tasting	skos:exactMatch	MIM:171200	[Phenylthiocarbamide tasting]	semapv:ManualMappingCuration	2014-06-23
DOID:9004940	Akesson Syndrome	skos:exactMatch	MIM:304200	CUTIS VERTICIS GYRATA, THYROID APLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	2022-12-06
DOID:9004946	Leptin Receptor Deficiency	skos:exactMatch	MIM:614963	Obesity, morbid, due to leptin receptor deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:9004948	Glaucoma and Sleep Apnea	skos:exactMatch	MIM:137763	GLAUCOMA AND SLEEP APNEA	semapv:ManualMappingCuration	2022-11-14
DOID:9004952	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES	skos:exactMatch	MIM:619239	Neurodevelopmental disorder with or without autism or seizures	semapv:ManualMappingCuration	2022-02-11
DOID:9004954	Neutrophil Actin Dysfunction	skos:exactMatch	MIM:257150	NEUTROPHIL ACTIN DYSFUNCTION	semapv:ManualMappingCuration	
DOID:9004955	Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate	skos:exactMatch	MIM:615465	Hartsfield syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9004956	Nocturnal Enuresis	skos:exactMatch	MIM:600631	Enuresis, nocturnal, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9004957	Porokeratosis, Disseminated Superficial Actinic, 4	skos:exactMatch	MIM:607728	Porokeratosis 4, disseminated superficial actinic	semapv:ManualMappingCuration	2017-10-03
DOID:9004958	Idiopathic Generalized Epilepsy 16	skos:exactMatch	MIM:618596	{Epilepsy, idiopathic generalized, susceptibility to, 16}	semapv:ManualMappingCuration	2019-09-27
DOID:9004959	African Degenerative Visceral Leiomyopathy	skos:exactMatch	MIM:619400	VISCERAL LEIOMYOPATHY, AFRICAN DEGENERATIVE	semapv:ManualMappingCuration	2021-07-16
DOID:9004966	Complex Cortical Dysplasia with Other Brain Malformations 12	skos:exactMatch	MIM:620316	Cortical dysplasia, complex, with other brain malformations 12	semapv:ManualMappingCuration	2023-04-10
DOID:9004970	Distal Renal Tubular Acidosis 1	skos:exactMatch	MIM:179800	Distal renal tubular acidosis 1	semapv:ManualMappingCuration	2017-10-03
DOID:9004971	Right Ventricle Hypoplasia	skos:exactMatch	MIM:277200	RIGHT VENTRICULAR HYPOPLASIA, ISOLATED	semapv:ManualMappingCuration	
DOID:9004973	Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction	skos:exactMatch	MIM:601389	CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION	semapv:ManualMappingCuration	
DOID:9004974	Painful Neuropathy	skos:exactMatch	MIM:256870	NEUROPATHY, PAINFUL	semapv:ManualMappingCuration	2022-12-05
DOID:9004975	Sacral Agenesis with Vertebral Anomalies	skos:exactMatch	MIM:615709	Sacral agenesis with vertebral anomalies	semapv:ManualMappingCuration	2014-09-09
DOID:9004977	Coxoauricular Syndrome	skos:exactMatch	MIM:122780	COXOAURICULAR SYNDROME	semapv:ManualMappingCuration	
DOID:9004981	Kantaputra Gorlin Syndrome	skos:exactMatch	MIM:156232	Mesomelic dysplasia, Kantaputra type	semapv:ManualMappingCuration	2017-10-03
DOID:9004982	X-Linked Vesicoureteral Reflux	skos:exactMatch	MIM:314550	VESICOURETERAL REFLUX, X-LINKED	semapv:ManualMappingCuration	2018-08-21
DOID:9004986	Ackerman Syndrome	skos:exactMatch	MIM:200970	ACKERMAN SYNDROME	semapv:ManualMappingCuration	
DOID:9004996	Infantile-Onset Limb and Orofacial Dyskinesia	skos:exactMatch	MIM:616921	Dyskinesia, limb and orofacial, infantile-onset	semapv:ManualMappingCuration	2016-06-10
DOID:9004998	Kyphoscoliosis	skos:exactMatch	MIM:610170	Kyphoscoliosis 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005000	Gallbladder Disease 4	skos:exactMatch	MIM:611465	{Gallbladder disease 4}	semapv:ManualMappingCuration	2017-10-03
DOID:9005002	Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction	skos:exactMatch	MIM:601075	APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION	semapv:ManualMappingCuration	2022-11-21
DOID:9005003	Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density	skos:exactMatch	MIM:601376	CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY	semapv:ManualMappingCuration	
DOID:9005006	Melanoma-Pancreatic Cancer Syndrome	skos:exactMatch	MIM:606719	{Melanoma-pancreatic cancer syndrome}	semapv:ManualMappingCuration	2017-10-03
DOID:9005009	Thrombocytopenia 6	skos:exactMatch	MIM:616937	?Thrombocytopenia 6	semapv:ManualMappingCuration	2017-04-25
DOID:9005015	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:618917	Neurodevelopmental disorder with language impairment and behavioral abnormalities	semapv:ManualMappingCuration	2020-11-09
DOID:9005017	Hereditary Angioedema 4	skos:exactMatch	MIM:619360	Angioedema, hereditary, 4	semapv:ManualMappingCuration	2021-06-11
DOID:9005019	JABERI-ELAHI SYNDROME	skos:exactMatch	MIM:617988	Jaberi-Elahi syndrome	semapv:ManualMappingCuration	2018-06-19
DOID:9005021	Verloes Van Maldergem Marneffe Syndrome	skos:exactMatch	MIM:157151	MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA	semapv:ManualMappingCuration	2022-10-31
DOID:9005022	Multiple Exostoses Type III	skos:exactMatch	MIM:600209	Exostoses, multiple, type 3	semapv:ManualMappingCuration	2017-10-03
DOID:9005023	Hereditary Sclerosing Poikiloderma	skos:exactMatch	MIM:173700	POIKILODERMA, HEREDITARY SCLEROSING	semapv:ManualMappingCuration	
DOID:9005024	Hereditary Adrenocortical Carcinoma	skos:exactMatch	MIM:202300	{Adrenocortical carcinoma, pediatric}	semapv:ManualMappingCuration	2017-10-03
DOID:9005025	Isolated Microphthalmia with Coloboma 2	skos:exactMatch	MIM:605738	Microphthalmia/coloboma 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005028	Oocyte/Zygote/Embryo Maturation Arrest 7	skos:exactMatch	MIM:618550	Oocyte/zygote/embryo maturation arrest 7	semapv:ManualMappingCuration	2019-09-03
DOID:9005029	Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate	skos:exactMatch	MIM:129810	ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE	semapv:ManualMappingCuration	2022-11-21
DOID:9005030	Junctional Epidermolysis Bullosa 2B, Severe	skos:exactMatch	MIM:619784	Epidermolysis bullosa, junctional 2B, severe	semapv:ManualMappingCuration	2022-06-07
DOID:9005031	Liddle Syndrome 1	skos:exactMatch	MIM:177200	Liddle syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005033	Leri Pleonosteosis	skos:exactMatch	MIM:151200	Leri pleonosteosis chromosome duplication syndrome	semapv:ManualMappingCuration	
DOID:9005034	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	skos:exactMatch	MIM:182690	SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND PROGRESSIVE NEPHROPATHY	semapv:ManualMappingCuration	2022-10-31
DOID:9005036	Bacteremia	skos:exactMatch	MIM:614382	{Bacteremia, protection against}	semapv:ManualMappingCuration	2017-10-10
DOID:9005036	Bacteremia	skos:exactMatch	MIM:614383	{Bacteremia, susceptibility to}	semapv:ManualMappingCuration	2014-10-23
DOID:9005037	Pituitary Dwarfism with Large Sella Turcica	skos:exactMatch	MIM:262710	PITUITARY DWARFISM WITH LARGE SELLA TURCICA	semapv:ManualMappingCuration	
DOID:9005039	Fatal Fetal Cardiomyopathy due to Myocardial Calcification	skos:exactMatch	MIM:300829	CARDIOMYOPATHY, FATAL FETAL, DUE TO MYOCARDIAL CALCIFICATION	semapv:ManualMappingCuration	
DOID:9005041	Isolated Microphthalmia with Coloboma 3	skos:exactMatch	MIM:610092	Microphthalmia/coloboma 3	semapv:ManualMappingCuration	2017-10-03
DOID:9005042	Familial Persistent Stuttering 3	skos:exactMatch	MIM:614655	Stuttering, familial persistent, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9005044	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1	skos:exactMatch	MIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	semapv:ManualMappingCuration	2017-12-01
DOID:9005045	Ectodermal Dysplasia, Mental Retardation, Syndactyly	skos:exactMatch	MIM:600906	ECTODERMAL DYSPLASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND SYNDACTYLY	semapv:ManualMappingCuration	
DOID:9005047	Hypercalciuria, Absorptive, 2	skos:exactMatch	MIM:143870	{Hypercalciuria, absorptive, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9005049	Gastric Sneezing	skos:exactMatch	MIM:137130	GASTRIC SNEEZING	semapv:ManualMappingCuration	2022-10-31
DOID:9005050	Tapetoretinal Degeneration with Ataxia	skos:exactMatch	MIM:272600	TAPETORETINAL DEGENERATION WITH ATAXIA	semapv:ManualMappingCuration	
DOID:9005052	Accessory Deep Peroneal Nerve	skos:exactMatch	MIM:170980	PERONEAL NERVE, ACCESSORY DEEP	semapv:ManualMappingCuration	2022-11-29
DOID:9005053	Hyperostosis Cranialis Interna	skos:exactMatch	MIM:144755	?Hyperostosis cranalis interna	semapv:ManualMappingCuration	
DOID:9005054	Hypertrophia Musculorum Vera	skos:exactMatch	MIM:145800	HYPERTROPHIA MUSCULORUM VERA	semapv:ManualMappingCuration	
DOID:9005055	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES	skos:exactMatch	MIM:618922	Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities	semapv:ManualMappingCuration	2020-11-09
DOID:9005056	Glucoglycinuria	skos:exactMatch	MIM:138070	GLUCOGLYCINURIA	semapv:ManualMappingCuration	
DOID:9005059	Hypertelorism and Tetralogy of Fallot	skos:exactMatch	MIM:239711	HYPERTELORISM AND TETRALOGY OF FALLOT	semapv:ManualMappingCuration	
DOID:9005062	Prostate Cancer, Hereditary, 1	skos:exactMatch	MIM:601518	Prostate cancer 1	semapv:ManualMappingCuration	2016-11-01
DOID:9005063	HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1	skos:exactMatch	MIM:616418	Hypomagnesemia, seizures, and impaired intellectual development 1	semapv:ManualMappingCuration	2017-04-27
DOID:9005066	IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS	skos:exactMatch	MIM:620901	?Immunodeficiency 123 with HPV-related verrucosis	semapv:ManualMappingCuration	2024-09-17
DOID:9005073	Thoracopelvic Dysostosis	skos:exactMatch	MIM:187770	THORACOPELVIC DYSOSTOSIS	semapv:ManualMappingCuration	
DOID:9005074	Dwarfism Stiff Joint Ocular Abnormalities	skos:exactMatch	MIM:127200	DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES	semapv:ManualMappingCuration	2022-11-29
DOID:9005075	Spastic Paraplegia and Psychomotor Retardation with or without Seizures	skos:exactMatch	MIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	semapv:ManualMappingCuration	2016-03-11
DOID:9005076	Cardioauditory Syndrome of Sanchez Cascos	skos:exactMatch	MIM:212100	CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS	semapv:ManualMappingCuration	2022-11-21
DOID:9005078	Congenital Macroglossia	skos:exactMatch	MIM:153630	MACROGLOSSIA	semapv:ManualMappingCuration	
DOID:9005082	Periventricular Nodular Heterotopia 4	skos:exactMatch	MIM:300537	null	semapv:ManualMappingCuration	2018-02-06
DOID:9005084	Kniest Like Dysplasia Lethal	skos:exactMatch	MIM:245190	KNIEST-LIKE DYSPLASIA, LETHAL	semapv:ManualMappingCuration	2019-06-04
DOID:9005085	Florid Papillomatosis of Nipple	skos:exactMatch	MIM:167950	PAPILLOMATOSIS, FLORID, OF NIPPLE	semapv:ManualMappingCuration	
DOID:9005086	Angiomatoid Fibrous Histiocytoma	skos:exactMatch	MIM:612160	Histiocytoma, angiomatoid fibrous, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:9005094	Hereditary Hyperbilirubinemia	skos:exactMatch	MIM:237450	Hyperbilirubinemia, Rotor type, digenic	semapv:ManualMappingCuration	2017-10-10
DOID:9005097	Hyperlipidemia, Combined, 1	skos:exactMatch	MIM:602491	{Hyperlipidemia, familial combined, susceptibility to}	semapv:ManualMappingCuration	2018-02-28
DOID:9005101	Carpenter Syndrome 1	skos:exactMatch	MIM:201000	Carpenter syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9005103	Proopiomelanocortin Deficiency	skos:exactMatch	MIM:609734	Obesity, adrenal insufficiency, and red hair due to POMC deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9005104	B-Cell CLL/Lymphoma 2	skos:exactMatch	MIM:151430	Leukemia/lymphoma, B-cell, 2	semapv:ManualMappingCuration	2014-09-02
DOID:9005105	Adrenal Hyperplasia 2	skos:exactMatch	MIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9005109	Anisomastia	skos:exactMatch	MIM:605746	Anisomastia	semapv:ManualMappingCuration	2017-10-03
DOID:9005110	Familial Esophageal Achalasia	skos:exactMatch	MIM:200400	ACHALASIA, FAMILIAL ESOPHAGEAL	semapv:ManualMappingCuration	2017-10-03
DOID:9005112	Immunodeficiency 113	skos:exactMatch	MIM:620565	Immunodeficiency 133 with autoimmunity and autoinflammation	semapv:ManualMappingCuration	2023-12-04
DOID:9005113	X-Linked Intellectual Developmental Disorder 110	skos:exactMatch	MIM:301095	Intellectual developmental disorder, X-linked 110	semapv:ManualMappingCuration	2023-01-19
DOID:9005117	Ladda Zonana Ramer Syndrome	skos:exactMatch	MIM:301815	ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY	semapv:ManualMappingCuration	
DOID:9005118	Familial Hypersensitivity Pneumonitis	skos:exactMatch	MIM:145300	HYPERSENSITIVITY PNEUMONITIS, FAMILIAL	semapv:ManualMappingCuration	
DOID:9005119	BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA	skos:exactMatch	MIM:619226	Blistering, acantholytic, of oral and laryngeal mucosa	semapv:ManualMappingCuration	2021-04-06
DOID:9005121	Atonic-Astatic Syndrome of Foerster	skos:exactMatch	MIM:209100	ATONIC-ASTATIC SYNDROME OF FOERSTER	semapv:ManualMappingCuration	
DOID:9005123	Baralle-Macken Syndrome	skos:exactMatch	MIM:619255	Baralle-Macken syndrome	semapv:ManualMappingCuration	2021-04-13
DOID:9005124	Nonpuerperal Galactorrhea	skos:exactMatch	MIM:104600	AMENORRHEA-GALACTORRHEA SYNDROME	semapv:ManualMappingCuration	
DOID:9005126	Malonic Aciduria	skos:exactMatch	MIM:248360	Malonyl-CoA decarboxylase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9005128	Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs	skos:exactMatch	MIM:601355	MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS	semapv:ManualMappingCuration	
DOID:9005129	Transient Neonatal Diabetes Mellitus, 2	skos:exactMatch	MIM:610374	Diabetes mellitus, transient neonatal 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005132	Distal Renal Tubular Acidosis, Type 3	skos:exactMatch	MIM:267200	RENAL TUBULAR ACIDOSIS III	semapv:ManualMappingCuration	2018-08-22
DOID:9005133	AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency	skos:exactMatch	MIM:608688	AICA-ribosiduria due to ATIC deficiency	semapv:ManualMappingCuration	2017-10-10
DOID:9005134	Plagiocephaly and X-Linked Mental Retardation	skos:exactMatch	MIM:300064	HYDE-FORSTER SYNDROME	semapv:ManualMappingCuration	
DOID:9005135	Hypospadias-Mental Retardation Syndrome	skos:exactMatch	MIM:241760	HYPOSPADIAS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	semapv:ManualMappingCuration	2022-11-08
DOID:9005137	Myopathic Carnitine Deficiency	skos:exactMatch	MIM:212160	CARNITINE DEFICIENCY, MYOPATHIC	semapv:ManualMappingCuration	
DOID:9005140	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES	skos:exactMatch	MIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	semapv:ManualMappingCuration	2017-12-06
DOID:9005145	High Myopia with Cataract and Vitreoretinal Degeneration	skos:exactMatch	MIM:614292	Myopia, high, with cataract and vitreoretinal degeneration	semapv:ManualMappingCuration	2014-09-09
DOID:9005150	Mosaic Variegated Aneuploidy Syndrome 6	skos:exactMatch	MIM:620185	Atelis syndrome 2	semapv:ManualMappingCuration	2023-01-10
DOID:9005151	Selective Tooth Agenesis 1	skos:exactMatch	MIM:106600	Tooth agenesis, selective, 1, with or without orofacial cleft	semapv:ManualMappingCuration	2017-10-03
DOID:9005152	Junctional Epidermolysis Bullosa 3B, Severe	skos:exactMatch	MIM:619786	Epidermolysis bullosa, junctional 3B, severe	semapv:ManualMappingCuration	2022-06-07
DOID:9005153	DEGCAGS SYNDROME	skos:exactMatch	MIM:619488	DEGCAGS syndrome	semapv:ManualMappingCuration	2021-10-18
DOID:9005155	Amelia, Autosomal Recessive	skos:exactMatch	MIM:601360	Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome	semapv:ManualMappingCuration	2020-01-22
DOID:9005159	Brachial Palsy, Familial Congenital	skos:exactMatch	MIM:608585	BRACHIAL PALSY, FAMILIAL CONGENITAL	semapv:ManualMappingCuration	2019-06-17
DOID:9005162	Familial Atrial Fibrillation 1	skos:exactMatch	MIM:608583	Atrial fibrillation, familial, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005164	Primary Congenital Glaucoma 3, E	skos:exactMatch	MIM:617272	Glaucoma 3, primary congenital, E	semapv:ManualMappingCuration	2017-02-17
DOID:9005169	Complement Factor B Deficiency	skos:exactMatch	MIM:615561	?Complement factor B deficiency	semapv:ManualMappingCuration	2014-10-16
DOID:9005178	Combined Pituitary Hormone Deficiency 8	skos:exactMatch	MIM:620303	Pituitary hormone deficiency, combined or isolated, 8	semapv:ManualMappingCuration	2023-04-10
DOID:9005184	Heyn-Sproul-Jackson Syndrome	skos:exactMatch	MIM:618724	Heyn-Sproul-Jackson syndrome	semapv:ManualMappingCuration	2020-01-06
DOID:9005185	Ichthyosis Cheek Eyebrow Syndrome	skos:exactMatch	MIM:146720	ICHTHYOSIS--CHEEK--EYEBROW SYNDROME	semapv:ManualMappingCuration	
DOID:9005186	RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA	skos:exactMatch	MIM:620233	Respiratory infections, recurrent, and failure to thrive with or without diarrhea	semapv:ManualMappingCuration	2023-05-11
DOID:9005187	Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy	skos:exactMatch	MIM:220219	DANDY-WALKER MALFORMATION WITH IMPAIRED INTELLECTUAL DEVELOPMENT, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY	semapv:ManualMappingCuration	
DOID:9005189	Vacuolar Myopathy	skos:exactMatch	MIM:609500	MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET	semapv:ManualMappingCuration	
DOID:9005189	Vacuolar Myopathy	skos:exactMatch	MIM:616231	Myopathy, vacuolar, with CASQ1 aggregates	semapv:ManualMappingCuration	2017-03-29
DOID:9005190	Juberg Hayward Syndrome	skos:exactMatch	MIM:216100	Juberg-Hayward syndrome	semapv:ManualMappingCuration	
DOID:9005194	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES	skos:exactMatch	MIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	semapv:ManualMappingCuration	2017-06-20
DOID:9005196	Autosomal Dominant Intellectual Developmental Disorder 68	skos:exactMatch	MIM:619934	Intellectual developmental disorder, autosomal dominant 68	semapv:ManualMappingCuration	2022-07-18
DOID:9005197	X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein	skos:exactMatch	MIM:308220	IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN	semapv:ManualMappingCuration	
DOID:9005199	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY	skos:exactMatch	MIM:616452	B-cell expansion with NFKB and T-cell anergy	semapv:ManualMappingCuration	2017-10-10
DOID:9005201	Oocyte/Zygote/Embryo Maturation Arrest 17	skos:exactMatch	MIM:620319	Oocyte/zygote/embryo maturation arrest 17	semapv:ManualMappingCuration	2023-04-11
DOID:9005202	Primary Ciliary Dyskinesia 48	skos:exactMatch	MIM:620032	Ciliary dyskinesia, primary, 48, without situs inversus	semapv:ManualMappingCuration	2022-09-16
DOID:9005203	Periventricular Nodular Heterotopia 3	skos:exactMatch	MIM:608098	Periventricular nodular heterotopia 3	semapv:ManualMappingCuration	2017-10-03
DOID:9005204	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	skos:exactMatch	MIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:9005205	Hereditary Benign Intraepithelial Dyskeratosis	skos:exactMatch	MIM:127600	Dyskeratosis, hereditary benign intraepithelial	semapv:ManualMappingCuration	2017-10-03
DOID:9005209	Usher Syndrome Type 4	skos:exactMatch	MIM:618144	Usher syndrome, type IV	semapv:ManualMappingCuration	2019-02-08
DOID:9005215	Hypochromic Microcytic Anemia with Iron Overload 1	skos:exactMatch	MIM:206100	Anemia, hypochromic microcytic, with iron overload 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005217	ALZAHRANI-KUWAHARA SYNDROME	skos:exactMatch	MIM:619268	Alzahrani-Kuwahara syndrome	semapv:ManualMappingCuration	2021-05-11
DOID:9005219	Abnormal Reflexes	skos:exactMatch	MIM:145290	HYPERREFLEXIA	semapv:ManualMappingCuration	2017-10-03
DOID:9005221	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1	skos:exactMatch	MIM:614742	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1	semapv:ManualMappingCuration	2015-06-11
DOID:9005223	Ribose 5-Phosphate Isomerase Deficiency	skos:exactMatch	MIM:608611	Ribose 5-phosphate isomerase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9005226	Coxa Vara	skos:exactMatch	MIM:122750	COXA VARA	semapv:ManualMappingCuration	2022-12-05
DOID:9005231	Self-Limited Delayed Puberty	skos:exactMatch	MIM:619613	Delayed puberty, self-limited	semapv:ManualMappingCuration	2022-02-04
DOID:9005232	Reticular Dystrophy of Retinal Pigment Epithelium	skos:exactMatch	MIM:179840	RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM	semapv:ManualMappingCuration	
DOID:9005234	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27	skos:exactMatch	MIM:619566	Muscular dystrophy, limb-girdle, autosomal recessive 27	semapv:ManualMappingCuration	2021-10-27
DOID:9005238	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA	skos:exactMatch	MIM:620210	Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia	semapv:ManualMappingCuration	2023-05-02
DOID:9005242	Progressive Encephalopathy with Amyotrophy and Optic Atrophy	skos:exactMatch	MIM:617207	Encephalopathy, progressive, with amyotrophy and optic atrophy	semapv:ManualMappingCuration	2017-03-07
DOID:9005243	Membranous Subaortic Stenosis	skos:exactMatch	MIM:271950	SUBAORTIC STENOSIS, MEMBRANOUS	semapv:ManualMappingCuration	2022-12-06
DOID:9005244	Vacuolar Neuromyopathy	skos:exactMatch	MIM:601846	Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:9005245	Hyperimmunoglobulin G1(A1) Syndrome	skos:exactMatch	MIM:144120	?Hyperimmunoglobulin G1 syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9005247	Megalencephalic Leukoencephalopathy with Subcortical Cysts 4	skos:exactMatch	MIM:620448	?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting	semapv:ManualMappingCuration	2023-07-25
DOID:9005249	Immunodeficiency 103	skos:exactMatch	MIM:212050	Immunodeficiency 103, susceptibility to fungal infection	semapv:ManualMappingCuration	2014-06-23
DOID:9005250	Groll Hirschowitz Syndrome	skos:exactMatch	MIM:221400	DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY	semapv:ManualMappingCuration	2022-11-29
DOID:9005255	Cranial Nerves, Recurrent Paresis of	skos:exactMatch	MIM:218200	CRANIAL NERVES, RECURRENT PARESIS OF	semapv:ManualMappingCuration	
DOID:9005256	Familial Atrial Fibrillation 18	skos:exactMatch	MIM:617280	?Atrial fibrillation, familial, 18	semapv:ManualMappingCuration	2017-10-10
DOID:9005257	NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES	skos:exactMatch	MIM:620775	Neuromuscular disorder, congenital, with dysmorphic facies	semapv:ManualMappingCuration	2024-05-28
DOID:9005259	Congenital Hypopituitarism with Central Diabetes Insipidus	skos:exactMatch	MIM:241540	HYPOPITUITARISM, CONGENITAL, WITH CENTRAL DIABETES INSIPIDUS	semapv:ManualMappingCuration	
DOID:9005260	Meralgia Paraesthetica, Familial	skos:exactMatch	MIM:156220	MERALGIA PARAESTHETICA, FAMILIAL	semapv:ManualMappingCuration	
DOID:9005262	Iridogoniodysgenesis and Skeletal Anomalies	skos:exactMatch	MIM:609515	IRIDOGONIODYSGENESIS AND SKELETAL ANOMALIES	semapv:ManualMappingCuration	
DOID:9005263	Parietal Foramina with Cleidocranial Dysplasia	skos:exactMatch	MIM:168550	Parietal foramina with cleidocranial dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:9005264	Peripheral Motor Neuropathy with Dysautonomia	skos:exactMatch	MIM:252320	MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA	semapv:ManualMappingCuration	
DOID:9005266	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES	skos:exactMatch	MIM:620224	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	semapv:ManualMappingCuration	2023-08-28
DOID:9005270	Glucocorticoid Deficiency 3	skos:exactMatch	MIM:609197	Glucocorticoid deficiency 3	semapv:ManualMappingCuration	2017-10-03
DOID:9005279	Ichthyosis Tapered Fingers Midline Groove Up	skos:exactMatch	MIM:258840	ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS	semapv:ManualMappingCuration	
DOID:9005280	Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities	skos:exactMatch	MIM:608281	SCIMITAR ANOMALY, MULTIPLE CARDIAC MALFORMATIONS, AND CRANIOFACIAL AND CENTRAL NERVOUS SYSTEM ABNORMALITIES	semapv:ManualMappingCuration	2022-11-04
DOID:9005288	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	skos:exactMatch	MIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	semapv:ManualMappingCuration	2017-10-03
DOID:9005297	Immunodeficiency 117	skos:exactMatch	MIM:620668	Immunodeficiency 117, mycobacteriosis, autosomal recessive	semapv:ManualMappingCuration	2024-01-19
DOID:9005299	Idiopathic Basal Ganglia Calcification 6	skos:exactMatch	MIM:616413	Basal ganglia calcification, idiopathic, 6	semapv:ManualMappingCuration	2017-02-24
DOID:9005301	Hydatidiform Mole, Recurrent, 3	skos:exactMatch	MIM:618431	Hydatidiform mole, recurrent, 3	semapv:ManualMappingCuration	2019-06-11
DOID:9005302	Platelet-Type Bleeding Disorder 13	skos:exactMatch	MIM:614009	{Bleeding disorder, platelet-type, 13, susceptibility to}	semapv:ManualMappingCuration	2017-03-28
DOID:9005303	Grouped Pigmentation of the Macula	skos:exactMatch	MIM:233800	GROUPED PIGMENTATION OF THE RETINA	semapv:ManualMappingCuration	
DOID:9005305	Muscular Dystrophy, Cardiac Type	skos:exactMatch	MIM:309930	MUSCULAR DYSTROPHY, CARDIAC TYPE	semapv:ManualMappingCuration	2018-08-22
DOID:9005307	Bone Marrow Failure Syndrome 3	skos:exactMatch	MIM:617052	Bone marrow failure syndrome 3	semapv:ManualMappingCuration	2016-09-06
DOID:9005308	Hypercholesterolemia, Autosomal Dominant, 3	skos:exactMatch	MIM:603776	Hypercholesterolemia, familial, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9005312	Muscular Dystrophy, Hemizygous Lethal Type	skos:exactMatch	MIM:309950	MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE	semapv:ManualMappingCuration	2018-08-22
DOID:9005315	Laterality Defects, Autosomal Dominant	skos:exactMatch	MIM:601086	LATERALITY DEFECTS, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2017-10-03
DOID:9005318	Isolated Caroli Disease	skos:exactMatch	MIM:600643	CAROLI DISEASE, ISOLATED	semapv:ManualMappingCuration	
DOID:9005319	Congenital Nonspherocytic Hemolytic Anemia 3	skos:exactMatch	MIM:612631	Anemia, congenital, nonspherocytic hemolytic, 3, adenylate kinase deficient	semapv:ManualMappingCuration	2017-10-03
DOID:9005328	Glycogen Storage Disease XIII	skos:exactMatch	MIM:612932	Glycogen storage disease XIII	semapv:ManualMappingCuration	2017-10-03
DOID:9005329	Preaxial Polydactyly	skos:exactMatch	MIM:PS174400	Polydactyly, preaxial I	semapv:ManualMappingCuration	2019-07-03
DOID:9005331	Severe Recurrent Varicella	skos:exactMatch	MIM:600670	VARICELLA, SEVERE RECURRENT	semapv:ManualMappingCuration	
DOID:9005332	Spontaneous Coronary Artery Dissection	skos:exactMatch	MIM:122455	CORONARY ARTERY DISSECTION, SPONTANEOUS	semapv:ManualMappingCuration	
DOID:9005333	Adams-Oliver Syndrome 6	skos:exactMatch	MIM:616589	Adams-Oliver syndrome 6	semapv:ManualMappingCuration	2018-01-03
DOID:9005336	Familial Focal Alopecia	skos:exactMatch	MIM:104110	ALOPECIA, FAMILIAL FOCAL	semapv:ManualMappingCuration	
DOID:9005338	Isolated Microphthalmia with Coloboma 4	skos:exactMatch	MIM:251505	MICROPHTHALMIA/COLOBOMA 4	semapv:ManualMappingCuration	2022-12-06
DOID:9005339	Rhizomelic Dysplasia Patterson Lowry Type	skos:exactMatch	MIM:601438	RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE	semapv:ManualMappingCuration	
DOID:9005340	Progressive Tubulointerstitial Nephropathy with Cholestatic Liver Disease	skos:exactMatch	MIM:602114	NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVER DISEASE	semapv:ManualMappingCuration	2022-12-05
DOID:9005341	Thanatophoric Dysplasia Glasgow Variant	skos:exactMatch	MIM:273680	THANATOPHORIC DYSPLASIA, GLASGOW VARIANT	semapv:ManualMappingCuration	2018-08-22
DOID:9005342	MacDermot Winter Syndrome	skos:exactMatch	MIM:247990	MACDERMOT-WINTER SYNDROME	semapv:ManualMappingCuration	
DOID:9005344	Combined Pituitary Hormone Deficiency 1	skos:exactMatch	MIM:613038	Pituitary hormone deficiency, combined or isolated, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005347	Spondyloocular Syndrome, Autosomal Recessive	skos:exactMatch	MIM:605822	Spondyloocular syndrome	semapv:ManualMappingCuration	
DOID:9005349	Three M Syndrome 1	skos:exactMatch	MIM:273750	3-M syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005352	CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY	skos:exactMatch	MIM:619466	Ciliary dyskinesia, primary, 47, and lissencephaly	semapv:ManualMappingCuration	2021-08-09
DOID:9005353	Laplane Fontaine Lagardere Syndrome	skos:exactMatch	MIM:272450	SYNDESMODYSPLASIC DWARFISM	semapv:ManualMappingCuration	
DOID:9005356	Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1	skos:exactMatch	MIM:619758	Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1	semapv:ManualMappingCuration	2022-03-29
DOID:9005357	Orofaciodigital Syndrome XV	skos:exactMatch	MIM:617127	?Orofaciodigital syndrome XV	semapv:ManualMappingCuration	2017-10-10
DOID:9005360	Duane Retraction Syndrome 3	skos:exactMatch	MIM:617041	Duane retraction syndrome 3	semapv:ManualMappingCuration	2017-10-10
DOID:9005361	Summitt Syndrome	skos:exactMatch	MIM:272350	SUMMITT SYNDROME	semapv:ManualMappingCuration	
DOID:9005362	Tracheobronchomegaly	skos:exactMatch	MIM:275300	TRACHEOBRONCHOMEGALY	semapv:ManualMappingCuration	
DOID:9005365	Renal Hypodysplasia/Aplasia 4	skos:exactMatch	MIM:619887	Renal hypodysplasia/aplasia 4	semapv:ManualMappingCuration	2022-05-31
DOID:9005366	Hyperphosphatemic Familial Tumoral Calcinosis 3	skos:exactMatch	MIM:617994	?Tumoral calcinosis, hyperphosphatemic, familial, 3	semapv:ManualMappingCuration	2018-11-09
DOID:9005373	Autosomal Dominant Tubulointerstitial Kidney Disease 4	skos:exactMatch	MIM:613092	Tubulointerstitial kidney disease, autosomal dominant, 4	semapv:ManualMappingCuration	2017-10-03
DOID:9005374	Diarrhea 13	skos:exactMatch	MIM:620357	?Diarrhea 13	semapv:ManualMappingCuration	2023-05-01
DOID:9005376	Ophthalmoplegia, Familial Total, with Iris Transillumination	skos:exactMatch	MIM:165098	OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION	semapv:ManualMappingCuration	
DOID:9005377	Complement Factor H Deficiency	skos:exactMatch	MIM:609814	Complement factor H deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9005378	AREDYLD Syndrome	skos:exactMatch	MIM:207780	AREDYLD	semapv:ManualMappingCuration	
DOID:9005382	X-Linked Acute Leukemia	skos:exactMatch	MIM:308960	LEUKEMIA, ACUTE, X-LINKED	semapv:ManualMappingCuration	2018-08-22
DOID:9005391	Asthma, Short Stature, and Elevated IgA	skos:exactMatch	MIM:208600	ASTHMA, SHORT STATURE, AND ELEVATED IgA	semapv:ManualMappingCuration	
DOID:9005392	Familial Atrial Fibrillation 4	skos:exactMatch	MIM:611493	Atrial fibrillation, familial, 4	semapv:ManualMappingCuration	2017-10-03
DOID:9005395	Deafness-Craniofacial Syndrome	skos:exactMatch	MIM:125230	DEAFNESS-CRANIOFACIAL SYNDROME	semapv:ManualMappingCuration	
DOID:9005397	Diastasis Recti and Weakness of the Linea Alba	skos:exactMatch	MIM:612198	DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA	semapv:ManualMappingCuration	
DOID:9005399	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES	skos:exactMatch	MIM:619694	Developmental delay with variable neurologic and brain abnormalities	semapv:ManualMappingCuration	2022-03-11
DOID:9005405	Primary Ciliary Dyskinesia 49	skos:exactMatch	MIM:620197	Ciliary dyskinesia, primary, 49, without situs inversus	semapv:ManualMappingCuration	2023-01-16
DOID:9005406	Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth	skos:exactMatch	MIM:602340	SENSORINEURAL HEARING LOSS, RETINAL PIGMENT EPITHELIUM LESIONS, DISCOLORED TEETH	semapv:ManualMappingCuration	2022-11-14
DOID:9005411	Complement Component C1r/C1s Deficiency	skos:exactMatch	MIM:216950	COMPLEMENT COMPONENT C1r/C1s DEFICIENCY	semapv:ManualMappingCuration	2014-06-23
DOID:9005414	Macular Dystrophy, Fenestrated Sheen Type	skos:exactMatch	MIM:153890	MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE	semapv:ManualMappingCuration	
DOID:9005415	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES	skos:exactMatch	MIM:619512	Neurodevelopmental disorder with hypotonia and brain abnormalities	semapv:ManualMappingCuration	2021-10-21
DOID:9005418	Focal Facial Dermal Dysplasia 1	skos:exactMatch	MIM:136500	FOCAL FACIAL DERMAL DYSPLASIA 1, BRAUER TYPE	semapv:ManualMappingCuration	2019-03-27
DOID:9005419	Moyamoya Disease 7	skos:exactMatch	MIM:620687	Moyamoya disease 7	semapv:ManualMappingCuration	2024-01-31
DOID:9005420	Peripheral Arterial Occlusive Disease 1	skos:exactMatch	MIM:606787	Peripheral arterial occlusive disease 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005422	Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia	skos:exactMatch	MIM:601348	ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA	semapv:ManualMappingCuration	
DOID:9005423	Aplasia Cutis Congenita with Intestinal Lymphangiectasia	skos:exactMatch	MIM:207731	APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA	semapv:ManualMappingCuration	
DOID:9005426	Passovoy Factor	skos:exactMatch	MIM:168830	PASSOVOY FACTOR DEFECT	semapv:ManualMappingCuration	2022-11-14
DOID:9005428	Polyosteolysis-Hyperostosis Syndrome	skos:exactMatch	MIM:610830	POLYOSTEOLYSIS-HYPEROSTOSIS SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9005429	Ramos Arroyo Clark Syndrome	skos:exactMatch	MIM:122430	RAMOS-ARROYO SYNDROME	semapv:ManualMappingCuration	2022-11-14
DOID:9005430	Proximal Myopathy with Focal Depletion of Mitochondria	skos:exactMatch	MIM:600706	PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA	semapv:ManualMappingCuration	
DOID:9005433	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY	skos:exactMatch	MIM:618890	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	semapv:ManualMappingCuration	2020-08-10
DOID:9005435	Alpha-2-Macroglobulin Deficiency	skos:exactMatch	MIM:614036	ALPHA-2-MACROGLOBULIN DEFICIENCY	semapv:ManualMappingCuration	2014-10-20
DOID:9005439	Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia	skos:exactMatch	MIM:610706	Deafness, congenital with inner ear agenesis, microtia, and microdontia	semapv:ManualMappingCuration	2017-10-03
DOID:9005441	Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects	skos:exactMatch	MIM:609545	OMPHALOCELE, DIAPHRAGMATIC HERNIA, AND RADIAL RAY DEFECTS	semapv:ManualMappingCuration	2022-11-21
DOID:9005442	Basel-Vanagaite-Smirin-Yosef syndrome	skos:exactMatch	MIM:616449	Basel-Vanagait-Smirin-Yosef syndrome	semapv:ManualMappingCuration	2017-02-24
DOID:9005443	Galloway-Mowat Syndrome 8	skos:exactMatch	MIM:618349	?Galloway-Mowat syndrome 8	semapv:ManualMappingCuration	2019-03-12
DOID:9005444	Torsades de Pointes	skos:exactMatch	MIM:613600	TORSADE DE POINTES, SHORT-COUPLED VARIANT	semapv:ManualMappingCuration	
DOID:9005445	Alopecia Areata 2	skos:exactMatch	MIM:610753	Alopecia areata 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005448	Autosomal Recessive Dyskeratosis Congenita 8	skos:exactMatch	MIM:620133	Dyskeratosis congenita, autosomal recessive 8	semapv:ManualMappingCuration	2022-11-29
DOID:9005453	Obesity and Hypopigmentation	skos:exactMatch	MIM:620195	Obesity and hypopigmentation	semapv:ManualMappingCuration	2023-01-16
DOID:9005454	Biemond Syndrome II	skos:exactMatch	MIM:210350	BIEMOND SYNDROME II	semapv:ManualMappingCuration	
DOID:9005455	Salivary Duct Calculi	skos:exactMatch	MIM:181010	SALIVARY DUCT CALCULI	semapv:ManualMappingCuration	
DOID:9005457	Specific Language Impairment 2	skos:exactMatch	MIM:606712	Specific language impairment QTL, 2	semapv:ManualMappingCuration	2014-06-23
DOID:9005459	Dahlberg Borer Newcomer Syndrome	skos:exactMatch	MIM:247410	LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME	semapv:ManualMappingCuration	
DOID:9005460	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS	skos:exactMatch	MIM:618760	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	semapv:ManualMappingCuration	2020-03-17
DOID:9005464	Developmental Delay, Language Impairment, and Ocular Abnormalities	skos:exactMatch	MIM:620141	Developmental delay, language impairment, and ocular abnormalities	semapv:ManualMappingCuration	2022-12-05
DOID:9005468	Brittle Cornea Syndrome	skos:exactMatch	MIM:PS229200	Brittle cornea syndrome 1	semapv:ManualMappingCuration	2019-03-20
DOID:9005469	Capillary Malformation-Arteriovenous Malformation	skos:exactMatch	MIM:PS608354	Capillary malformation-arteriovenous malformation 1	semapv:ManualMappingCuration	2019-03-21
DOID:9005471	Thiemann Disease	skos:exactMatch	MIM:165700	THIEMANN DISEASE	semapv:ManualMappingCuration	
DOID:9005477	Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome	skos:exactMatch	MIM:614979	ROSAH syndrome	semapv:ManualMappingCuration	2020-10-29
DOID:9005482	Microcephaly and Chorioretinopathy	skos:exactMatch	MIM:PS251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	semapv:ManualMappingCuration	2019-03-28
DOID:9005484	Van Der Woude Syndrome 1, Modifier of	skos:exactMatch	MIM:604547	VAN DER WOUDE SYNDROME 1, MODIFIER OF	semapv:ManualMappingCuration	2014-06-23
DOID:9005487	Candidiasis, Familial, 9	skos:exactMatch	MIM:616445	Candidiasis, familial, 9	semapv:ManualMappingCuration	2017-02-24
DOID:9005489	Seizures, Cortical Blindness, and Microcephaly Syndrome	skos:exactMatch	MIM:616632	Seizures, cortical blindness, microcephaly syndrome	semapv:ManualMappingCuration	2015-12-08
DOID:9005492	Marfan Lipodystrophy Syndrome	skos:exactMatch	MIM:616914	Marfan lipodystrophy syndrome	semapv:ManualMappingCuration	2016-05-19
DOID:9005494	X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features	skos:exactMatch	MIM:301091	Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features	semapv:ManualMappingCuration	2022-11-28
DOID:9005495	Raindrop Hypopigmentation	skos:exactMatch	MIM:179500	RAINDROP HYPOPIGMENTATION	semapv:ManualMappingCuration	
DOID:9005499	Chromosome 16p13.3 Deletion Syndrome	skos:exactMatch	MIM:610543	Chromosome 16p13.3 deletion syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:9005502	Lattice Degeneration of Retina Leading to Retinal Detachment	skos:exactMatch	MIM:150500	LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT	semapv:ManualMappingCuration	
DOID:9005503	Disseminated Sclerosis with Narcolepsy	skos:exactMatch	MIM:223300	DISSEMINATED SCLEROSIS WITH NARCOLEPSY	semapv:ManualMappingCuration	
DOID:9005508	Cephalin Lipidosis	skos:exactMatch	MIM:212800	CEPHALIN LIPIDOSIS	semapv:ManualMappingCuration	
DOID:9005509	Renal Hypodysplasia/Aplasia 2	skos:exactMatch	MIM:615721	?Renal hypodysplasia/aplasia 2	semapv:ManualMappingCuration	2014-09-09
DOID:9005510	Hereditary Leiomyomatosis and Renal Cell Cancer	skos:exactMatch	MIM:150800	Leiomyomatosis and renal cell cancer	semapv:ManualMappingCuration	2017-10-03
DOID:9005512	Paragangliomas 6	skos:exactMatch	MIM:618464	Pheochromocytoma/paraganglioma syndrome 6	semapv:ManualMappingCuration	2019-06-25
DOID:9005516	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1	skos:exactMatch	MIM:616263	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease	semapv:ManualMappingCuration	2017-03-30
DOID:9005517	Trichorhinophalangeal Syndrome	skos:exactMatch	MIM:PS190350	Trichorhinophalangeal syndrome, type I	semapv:ManualMappingCuration	2020-05-08
DOID:9005519	Hyperlipoproteinemia Type II	skos:exactMatch	MIM:144010	Hypercholesterolemia, familial, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005520	Genitopatellar Syndrome	skos:exactMatch	MIM:606170	Genitopatellar syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9005521	Chromosome Xq28 Duplication Syndrome	skos:exactMatch	MIM:300815	Chromosome Xq28 duplication syndrome	semapv:ManualMappingCuration	
DOID:9005522	Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant	skos:exactMatch	MIM:609222	DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	
DOID:9005523	Majeed Syndrome	skos:exactMatch	MIM:609628	Majeed syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9005526	Pulmonary Edema of Mountaineers	skos:exactMatch	MIM:178400	PULMONARY EDEMA OF MOUNTAINEERS, SUSCEPTIBILITY TO	semapv:ManualMappingCuration	2022-11-29
DOID:9005528	Structural Heart Defects and Renal Anomalies Syndrome	skos:exactMatch	MIM:617478	Structural heart defects and renal anomalies syndrome	semapv:ManualMappingCuration	2017-06-26
DOID:9005529	Chronic Benign Proteinuria	skos:exactMatch	MIM:618884	[Proteinuria, chronic benign]	semapv:ManualMappingCuration	2020-08-13
DOID:9005530	Craniosynostosis 5	skos:exactMatch	MIM:615529	{Craniosynostosis 5, susceptibility to}	semapv:ManualMappingCuration	2015-07-01
DOID:9005531	Congenital Disorder of Glycosylation Type IIv	skos:exactMatch	MIM:619493	Congenital disorder of glycosylation, type IIv	semapv:ManualMappingCuration	2021-08-26
DOID:9005533	Retinitis Pigmentosa 97	skos:exactMatch	MIM:620422	?Retinitis pigmentosa 97	semapv:ManualMappingCuration	2023-07-21
DOID:9005534	Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism	skos:exactMatch	MIM:254000	MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM	semapv:ManualMappingCuration	
DOID:9005536	Blepharoptosis, Myopia, and Ectopia Lentis	skos:exactMatch	MIM:110150	BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS	semapv:ManualMappingCuration	
DOID:9005541	Mental Retardation, Autosomal Recessive 53	skos:exactMatch	MIM:616917	Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy	semapv:ManualMappingCuration	2016-06-13
DOID:9005542	Ciliary Discoordination due to Random Ciliary Orientation	skos:exactMatch	MIM:215518	CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION	semapv:ManualMappingCuration	
DOID:9005543	Tel Hashomer Camptodactyly Syndrome	skos:exactMatch	MIM:211960	CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES	semapv:ManualMappingCuration	
DOID:9005546	Wellesley Carmen French Syndrome	skos:exactMatch	MIM:115645	CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION	semapv:ManualMappingCuration	
DOID:9005547	Myoclonic Epilepsy of Lafora 1	skos:exactMatch	MIM:254780	Myoclonic epilepsy of Lafora 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005551	Cardiocranial Syndrome	skos:exactMatch	MIM:218450	CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS	semapv:ManualMappingCuration	
DOID:9005555	Aortic Aneurysm, Familial Abdominal 3	skos:exactMatch	MIM:611891	{Aneurysm, familial abdominal 3}	semapv:ManualMappingCuration	2017-10-03
DOID:9005556	C1q Deficiency 1	skos:exactMatch	MIM:613652	C1q deficiency 1	semapv:ManualMappingCuration	2023-04-14
DOID:9005558	Gamma-A-Globulin, Defect in Assembly of	skos:exactMatch	MIM:137050	GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF	semapv:ManualMappingCuration	
DOID:9005561	Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence	skos:exactMatch	MIM:217980	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE	semapv:ManualMappingCuration	2018-09-19
DOID:9005563	Glomerulopathy with Giant Fibrillar Deposits	skos:exactMatch	MIM:137950	Glomerulopathy with fibronectin deposits 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005563	Glomerulopathy with Giant Fibrillar Deposits	skos:exactMatch	MIM:601894	Glomerulopathy with fibronectin deposits 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005566	NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES	skos:exactMatch	MIM:620194	Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies	semapv:ManualMappingCuration	2023-05-04
DOID:9005569	Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation	skos:exactMatch	MIM:209770	AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9005571	primary pulmonary hypertension 6	skos:exactMatch	MIM:620777	Pulmonary hypertension, primary, 6	semapv:ManualMappingCuration	2024-05-31
DOID:9005572	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	skos:exactMatch	MIM:113477	BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME	semapv:ManualMappingCuration	
DOID:9005573	Prostate Cancer, Hereditary, 3	skos:exactMatch	MIM:608656	{Prostate cancer, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:9005579	Immunodeficiency 105	skos:exactMatch	MIM:619924	Immunodeficiency 105, severe combined	semapv:ManualMappingCuration	2022-07-05
DOID:9005580	Moyamoya Disease 1	skos:exactMatch	MIM:252350	Moyamoya disease	semapv:ManualMappingCuration	2017-10-03
DOID:9005586	Synpolydactyly 1	skos:exactMatch	MIM:186000	Synpolydactyly 1	semapv:ManualMappingCuration	2018-08-21
DOID:9005588	Thyrocerebral-Retinal Syndrome	skos:exactMatch	MIM:274240	THYROCEREBRORETINAL SYNDROME	semapv:ManualMappingCuration	
DOID:9005590	Lymphatic Malformation 14	skos:exactMatch	MIM:620602	Lymphatic malformation 14	semapv:ManualMappingCuration	2023-12-04
DOID:9005591	Potato Nose	skos:exactMatch	MIM:164000	NOSE, ANOMALOUS SHAPE OF	semapv:ManualMappingCuration	
DOID:9005594	Camptodactyly Syndrome Guadalajara Type 1	skos:exactMatch	MIM:211910	CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I	semapv:ManualMappingCuration	2020-05-29
DOID:9005599	Brachydactyly-Nystagmus-Cerebellar Ataxia	skos:exactMatch	MIM:113400	BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA	semapv:ManualMappingCuration	2018-05-31
DOID:9005601	CATIFA Syndrome	skos:exactMatch	MIM:618761	CATIFA syndrome	semapv:ManualMappingCuration	2020-02-13
DOID:9005604	Recurrent Dislocation of Head of Fibula	skos:exactMatch	MIM:135800	FIBULA, RECURRENT DISLOCATION OF HEAD OF	semapv:ManualMappingCuration	
DOID:9005606	Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor	skos:exactMatch	MIM:618272	GLOW syndrome, somatic mosaic	semapv:ManualMappingCuration	2019-02-26
DOID:9005613	Myopia 1	skos:exactMatch	MIM:310460	Myopia-1	semapv:ManualMappingCuration	2017-10-03
DOID:9005614	Methylmalonic Aciduria and Homocystinuria	skos:exactMatch	MIM:PS277400	Methylmalonic aciduria and homocystinuria, cblC type	semapv:ManualMappingCuration	2023-02-06
DOID:9005615	Joubert Syndrome 38	skos:exactMatch	MIM:619476	?Joubert syndrome 38	semapv:ManualMappingCuration	2021-08-25
DOID:9005621	Combined Oxidative Phosphorylation Deficiency 59	skos:exactMatch	MIM:620646	Combined oxidative phosphorylation deficiency 59	semapv:ManualMappingCuration	2023-12-12
DOID:9005624	Photoparoxysmal Response 3	skos:exactMatch	MIM:609573	Photoparoxysmal response 3	semapv:ManualMappingCuration	2017-10-03
DOID:9005626	Craniosynostosis, Anal Anomalies, and Porokeratosis	skos:exactMatch	MIM:603116	CDAGS syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9005631	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS	skos:exactMatch	MIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	semapv:ManualMappingCuration	2019-04-15
DOID:9005634	Tolchin-Le Caignec Syndrome	skos:exactMatch	MIM:618971	Tolchin-Le Caignec syndrome	semapv:ManualMappingCuration	2020-08-06
DOID:9005638	Spastic Paresis, Glaucoma, and Mental Retardation	skos:exactMatch	MIM:270850	SPASTIC PARESIS, GLAUCOMA, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9005641	GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES	skos:exactMatch	MIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	semapv:ManualMappingCuration	2017-02-17
DOID:9005645	Blepharochalasis and Double Lip	skos:exactMatch	MIM:109900	BLEPHAROCHALASIS AND DOUBLE LIP	semapv:ManualMappingCuration	
DOID:9005648	Glycogen Storage Disease 0, Muscle	skos:exactMatch	MIM:611556	Glycogen storage disease 0, muscle	semapv:ManualMappingCuration	2017-10-03
DOID:9005650	Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	skos:exactMatch	MIM:620663	Spondyloepimetaphyseal dysplasia, Guo-Campeau type	semapv:ManualMappingCuration	2024-01-19
DOID:9005651	NOR POLYAGGLUTINATION SYNDROME	skos:exactMatch	MIM:111400	[Blood group, P1Pk system, p phenotype]	semapv:ManualMappingCuration	2024-11-12
DOID:9005652	Van Den Bosch Syndrome	skos:exactMatch	MIM:314500	VAN DEN BOSCH SYNDROME	semapv:ManualMappingCuration	2019-06-11
DOID:9005653	Cornea Plana 1	skos:exactMatch	MIM:121400	Cornea plana 1, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:9005655	Paragangliomas 2	skos:exactMatch	MIM:601650	Pheochromocytoma/paraganglioma syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005656	Optic Atrophy 13	skos:exactMatch	MIM:165510	Optic atrophy 13 with retinal and foveal abnormalities	semapv:ManualMappingCuration	2020-09-04
DOID:9005663	Lethal Faciocardiomelic Dysplasia	skos:exactMatch	MIM:227270	FACIOCARDIOMELIC DYSPLASIA, LETHAL	semapv:ManualMappingCuration	
DOID:9005664	Pentalogy of Cantrell	skos:exactMatch	MIM:313850	Thoracoabdominal syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9005667	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	skos:exactMatch	MIM:604381	PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES	semapv:ManualMappingCuration	2022-12-12
DOID:9005668	Dental Medial Diastema	skos:exactMatch	MIM:125900	DIASTEMA, DENTAL MEDIAL	semapv:ManualMappingCuration	
DOID:9005672	Maple Syrup Urine Disease, Type 2	skos:exactMatch	MIM:620699	Maple syrup urine disease, type II	semapv:ManualMappingCuration	2024-02-12
DOID:9005674	Hemophilia A with Vascular Abnormality	skos:exactMatch	MIM:306800	HEMOPHILIA A WITH VASCULAR ABNORMALITY	semapv:ManualMappingCuration	
DOID:9005676	Webb-Dattani Syndrome	skos:exactMatch	MIM:615926	?Webb-Dattani syndrome	semapv:ManualMappingCuration	2020-02-18
DOID:9005679	Thrombocytopenia 12	skos:exactMatch	MIM:620757	Thrombocytopenia 12 with or without myopathy	semapv:ManualMappingCuration	2024-04-22
DOID:9005680	Primary Release Disorder Of Platelets	skos:exactMatch	MIM:176630	PRIMARY RELEASE DISORDER OF PLATELETS	semapv:ManualMappingCuration	
DOID:9005682	SHORT STATURE-MICROGNATHIA SYNDROME	skos:exactMatch	MIM:617164	Short stature-micrognathia syndrome	semapv:ManualMappingCuration	2017-04-06
DOID:9005687	Autosomal Dominant Intellectual Developmental Disorder 64	skos:exactMatch	MIM:619188	Intellectual developmental disorder, autosomal dominant 64	semapv:ManualMappingCuration	2021-02-19
DOID:9005690	Mandibulofacial Dysostosis with Mental Deficiency	skos:exactMatch	MIM:248400	MANDIBULOFACIAL DYSOSTOSIS WITH IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9005691	Spinal Muscular Atrophy, Segmental	skos:exactMatch	MIM:183020	SPINAL MUSCULAR ATROPHY, SEGMENTAL	semapv:ManualMappingCuration	
DOID:9005692	Platelet-Type Bleeding Disorder 25	skos:exactMatch	MIM:620486	Bleeding disorder, platelet-type, 25	semapv:ManualMappingCuration	2023-09-01
DOID:9005693	Uterine Anomalies	skos:exactMatch	MIM:192000	UTERINE ANOMALIES	semapv:ManualMappingCuration	2022-12-06
DOID:9005694	Papillary Thyroid Microcarcinoma	skos:exactMatch	MIM:603744	PAPILLARY THYROID MICROCARCINOMA	semapv:ManualMappingCuration	
DOID:9005697	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES	skos:exactMatch	MIM:620494	Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies	semapv:ManualMappingCuration	2023-09-19
DOID:9005699	Congenital Pseudarthrosis of Clavicle	skos:exactMatch	MIM:118980	CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL	semapv:ManualMappingCuration	
DOID:9005701	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES	skos:exactMatch	MIM:619321	?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies	semapv:ManualMappingCuration	2021-06-17
DOID:9005706	Benign Familial Neonatal Seizures, 3	skos:exactMatch	MIM:608217	SEIZURES, BENIGN FAMILIAL NEONATAL, 3	semapv:ManualMappingCuration	2021-02-15
DOID:9005707	Larsen-Like Syndrome, Lethal Type	skos:exactMatch	MIM:245650	LARSEN-LIKE SYNDROME, LETHAL TYPE	semapv:ManualMappingCuration	
DOID:9005709	Keratitis-Ichthyosis-Deafness Syndrome	skos:exactMatch	MIM:PS148210	Keratitis-ichthyosis-deafness syndrome	semapv:ManualMappingCuration	2020-04-22
DOID:9005710	LONG-OLSEN-DISTELMAIER SYNDROME	skos:exactMatch	MIM:620609	Long-Olsen-Distelmaier syndrome	semapv:ManualMappingCuration	2024-04-04
DOID:9005711	Immunodeficiency 115	skos:exactMatch	MIM:620632	Immunodeficiency 115 with autoinflammation	semapv:ManualMappingCuration	2023-12-04
DOID:9005712	Severe Congenital Liver Disease	skos:exactMatch	MIM:619991	Liver disease, severe congenital	semapv:ManualMappingCuration	2022-08-22
DOID:9005714	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES	skos:exactMatch	MIM:619580	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	semapv:ManualMappingCuration	2022-12-15
DOID:9005716	Leiomyoma of Vulva and Esophagus	skos:exactMatch	MIM:150700	LEIOMYOMA OF VULVA AND ESOPHAGUS	semapv:ManualMappingCuration	2022-11-21
DOID:9005717	Familial Persistent Stuttering 1	skos:exactMatch	MIM:184450	Stuttering, familial persistent, 1	semapv:ManualMappingCuration	2014-06-23
DOID:9005718	Hereditary Congenital Facial Paresis 2	skos:exactMatch	MIM:604185	Facial paresis, hereditary congenital, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005719	Aneurysmal Bone Cysts	skos:exactMatch	MIM:606179	Aneurysmal bone cysts	semapv:ManualMappingCuration	2017-10-03
DOID:9005720	Autosomal Recessive Nonsyndromic Deafness 119	skos:exactMatch	MIM:619615	Deafness, autosomal recessive 119	semapv:ManualMappingCuration	2021-11-18
DOID:9005722	SHORT STATURE, DAUBER-ARGENTE TYPE	skos:exactMatch	MIM:619489	Short stature, Dauber-Argente type	semapv:ManualMappingCuration	2021-10-29
DOID:9005725	Iron Overload	skos:exactMatch	MIM:620121	{Iron overload, susceptibility to}	semapv:ManualMappingCuration	
DOID:9005727	Infantile Multisystem Neurologic Disease with Osseous Fragility	skos:exactMatch	MIM:256720	NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY	semapv:ManualMappingCuration	
DOID:9005732	Elliptocytosis 1	skos:exactMatch	MIM:611804	Elliptocytosis-1	semapv:ManualMappingCuration	2017-10-03
DOID:9005733	Amelia and Terminal Transverse Hemimelia	skos:exactMatch	MIM:104400	AMELIA AND TERMINAL TRANSVERSE HEMIMELIA	semapv:ManualMappingCuration	
DOID:9005735	Ulnar Hypoplasia with Lobster-Claw Deformity of Feet	skos:exactMatch	MIM:314360	ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET	semapv:ManualMappingCuration	2017-10-03
DOID:9005738	Major Depressive Disorder 2	skos:exactMatch	MIM:608691	Major depressive disorder 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005739	Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness	skos:exactMatch	MIM:235740	HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS	semapv:ManualMappingCuration	
DOID:9005740	Pyruvate Dehydrogenase Phosphatase Deficiency	skos:exactMatch	MIM:608782	Pyruvate dehydrogenase phosphatase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9005743	Curly Hair-Acral Keratoderma-Caries Syndrome	skos:exactMatch	MIM:607656	CURLY HAIR-ACRAL KERATODERMA-CARIES SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9005746	Colobomatous Macrophthalmia with Microcornea	skos:exactMatch	MIM:602499	Macrophthalmia, colobomatous, with microcornea	semapv:ManualMappingCuration	2017-10-03
DOID:9005751	Prostate Cancer, Hereditary, 4	skos:exactMatch	MIM:608658	{Prostate cancer, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:9005752	Aortic Aneurysm, Familial Abdominal 2	skos:exactMatch	MIM:609782	Aortic aneurysm, familial abdominal 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005755	Hamartomatous Lip	skos:exactMatch	MIM:151640	LIP, HAMARTOMATOUS	semapv:ManualMappingCuration	2022-11-29
DOID:9005756	Herrmann Syndrome	skos:exactMatch	MIM:172500	PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL DYSFUNCTION	semapv:ManualMappingCuration	
DOID:9005760	Presbycusis 1	skos:exactMatch	MIM:612448	{Age-related hearing impairment 1}	semapv:ManualMappingCuration	2017-10-03
DOID:9005761	Mismatch Repair Cancer Syndrome 2	skos:exactMatch	MIM:619096	Mismatch repair cancer syndrome 2	semapv:ManualMappingCuration	2020-11-30
DOID:9005762	Trigonocephaly 2	skos:exactMatch	MIM:614485	Trigonocephaly 2	semapv:ManualMappingCuration	2014-09-02
DOID:9005764	Short QT Syndrome 1	skos:exactMatch	MIM:609620	Short QT syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005765	Autoinflammation with Pulmonary and Cutaneous Vasculitis	skos:exactMatch	MIM:620296	Autoinflammation with pulmonary and cutaneous vasculitis	semapv:ManualMappingCuration	2023-03-31
DOID:9005767	Scoliosis, Arachnodactyly, and Blindness	skos:exactMatch	MIM:612445	SCOLIOSIS, ARACHNODACTYLY, AND BLINDNESS	semapv:ManualMappingCuration	
DOID:9005769	Hypotonia, Seizures, and Precocious Puberty	skos:exactMatch	MIM:612777	HYPOTONIA, SEIZURES, AND PRECOCIOUS PUBERTY	semapv:ManualMappingCuration	
DOID:9005770	Oocyte Maturation Defect 3	skos:exactMatch	MIM:617712	Oocyte/zygote/embryo maturation arrest 3	semapv:ManualMappingCuration	2017-11-21
DOID:9005771	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7	skos:exactMatch	MIM:620365	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7	semapv:ManualMappingCuration	2023-05-12
DOID:9005774	Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity	skos:exactMatch	MIM:609889	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity	semapv:ManualMappingCuration	2017-10-03
DOID:9005776	Kyrle Disease	skos:exactMatch	MIM:149500	KYRLE DISEASE	semapv:ManualMappingCuration	
DOID:9005780	Spongiform Encephalopathy with Neuropsychiatric Features	skos:exactMatch	MIM:606688	Spongiform encephalopathy with neuropsychiatric features	semapv:ManualMappingCuration	2017-10-03
DOID:9005781	Adams-Oliver Syndrome 5	skos:exactMatch	MIM:616028	Adams-Oliver syndrome 5	semapv:ManualMappingCuration	2016-07-12
DOID:9005782	Carotid Intimal Medial Thickness 1	skos:exactMatch	MIM:609338	Carotid intimal medial thickness 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005783	Primary Basilar Impression	skos:exactMatch	MIM:109500	BASILAR IMPRESSION, PRIMARY	semapv:ManualMappingCuration	
DOID:9005784	Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification	skos:exactMatch	MIM:182255	SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION	semapv:ManualMappingCuration	
DOID:9005785	Altitude Sickness	skos:exactMatch	MIM:616182	{Chronic mountain sickness, susceptibility to}	semapv:ManualMappingCuration	
DOID:9005786	RHYNS Syndrome	skos:exactMatch	MIM:602152	?RHYNS syndrome	semapv:ManualMappingCuration	
DOID:9005787	Dimauro Disease	skos:exactMatch	MIM:261670	Glycogen storage disease X	semapv:ManualMappingCuration	2017-10-03
DOID:9005789	Hypertrophic Cardiomyopathy 28	skos:exactMatch	MIM:619402	Cardiomyopathy, familial hypertrophic, 28	semapv:ManualMappingCuration	2021-07-01
DOID:9005790	Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type	skos:exactMatch	MIM:136630	Intellectual developmental disorder, autosomal dominant, FRA12A type	semapv:ManualMappingCuration	2017-10-03
DOID:9005791	Branchiootic Syndrome 2	skos:exactMatch	MIM:120502	Branchiootic syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005799	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8	skos:exactMatch	MIM:620367	?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8	semapv:ManualMappingCuration	2023-05-12
DOID:9005800	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2	skos:exactMatch	MIM:301074	Autoinflammatory syndrome, familial, X-linked, Behcet-like 2	semapv:ManualMappingCuration	2022-06-10
DOID:9005801	Diets-Jongmans Syndrome	skos:exactMatch	MIM:618846	Diets-Jongmans syndrome	semapv:ManualMappingCuration	2020-06-19
DOID:9005805	Thrombocytopenia 5	skos:exactMatch	MIM:616216	Thrombocytopenia 5	semapv:ManualMappingCuration	2017-04-19
DOID:9005806	Nasopalpebral Lipoma Coloboma Syndrome	skos:exactMatch	MIM:167730	NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME	semapv:ManualMappingCuration	
DOID:9005808	Distal Renal Tubular Acidosis 3, Autosomal Recessive	skos:exactMatch	MIM:602722	Distal renal tubular acidosis 3, with or without sensorineural hearing loss	semapv:ManualMappingCuration	2017-10-03
DOID:9005810	Autosomal Dominant Intellectual Developmental Disorder 59	skos:exactMatch	MIM:618522	Intellectual developmental disorder, autosomal dominant 59	semapv:ManualMappingCuration	2020-01-23
DOID:9005811	HUPRA Syndrome	skos:exactMatch	MIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	semapv:ManualMappingCuration	2014-09-09
DOID:9005813	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:619575	Developmental delay with or without intellectual impairment or behavioral abnormalities	semapv:ManualMappingCuration	2021-12-09
DOID:9005814	Prader-Willi Habitus, Osteopenia, and Camptodactyly	skos:exactMatch	MIM:264010	PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY	semapv:ManualMappingCuration	
DOID:9005816	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS	skos:exactMatch	MIM:619373	Neurodevelopmental disorder with infantile epileptic spasms	semapv:ManualMappingCuration	2022-02-11
DOID:9005817	Czech Dysplasia, Metatarsal Type	skos:exactMatch	MIM:609162	Czech dysplasia	semapv:ManualMappingCuration	2014-10-20
DOID:9005819	Hereditary Hemorrhagic Telangiectasia, Type 2	skos:exactMatch	MIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005821	Intestinal Lymphangiectasis	skos:exactMatch	MIM:152800	LYMPHANGIECTASIA, INTESTINAL	semapv:ManualMappingCuration	
DOID:9005822	BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS	skos:exactMatch	MIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	semapv:ManualMappingCuration	2019-08-05
DOID:9005823	Lymphedema, Cardiac Septal Defects, and Characteristic Facies	skos:exactMatch	MIM:601927	LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES	semapv:ManualMappingCuration	
DOID:9005826	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	skos:exactMatch	MIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	semapv:ManualMappingCuration	2017-10-03
DOID:9005830	Hyaloideoretinal Degeneration of Wagner	skos:exactMatch	MIM:143200	Wagner syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005832	Amyloid Plaques	skos:exactMatch	MIM:269800	SENILE PLAQUE FORMATION	semapv:ManualMappingCuration	2022-11-14
DOID:9005836	Central Areolar Choroidal Dystrophy 2	skos:exactMatch	MIM:613105	Choroidal dystrophy, central areolar 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005838	Familial Thoracic Aortic Aneurysm 11	skos:exactMatch	MIM:617349	{Aortic aneurysm, familial thoracic 11, susceptibility to}	semapv:ManualMappingCuration	2017-06-09
DOID:9005839	Hypoplastic Left Heart Syndrome 2	skos:exactMatch	MIM:614435	Hypoplastic left heart syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:9005840	Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	skos:exactMatch	MIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:9005841	Epidermal Cyst	skos:exactMatch	MIM:131600	EPIDERMOID CYSTS	semapv:ManualMappingCuration	
DOID:9005842	Langer Mesomelic Dysplasia	skos:exactMatch	MIM:249700	Langer mesomelic dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:9005843	Hereditary Spastic Paralysis, Infantile Onset Ascending	skos:exactMatch	MIM:607225	Spastic paralysis, infantile onset ascending	semapv:ManualMappingCuration	2017-10-03
DOID:9005846	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28	skos:exactMatch	MIM:620375	Muscular dystrophy, limb-girdle, autosomal recessive 28	semapv:ManualMappingCuration	2023-07-18
DOID:9005848	WEISS-KRUSZKA SYNDROME	skos:exactMatch	MIM:618619	Weiss-Kruszka syndrome	semapv:ManualMappingCuration	2019-11-14
DOID:9005849	Radiation Sensitivity of Natural Killer Activity	skos:exactMatch	MIM:312210	RADIATION SENSITIVITY OF NATURAL KILLER ACTIVITY	semapv:ManualMappingCuration	
DOID:9005852	Spinocerebellar Ataxia with Dysmorphism	skos:exactMatch	MIM:271270	SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM	semapv:ManualMappingCuration	
DOID:9005853	Pulmonary Surfactant Metabolism Dysfunction 4	skos:exactMatch	MIM:300770	Surfactant metabolism dysfunction, pulmonary, 4	semapv:ManualMappingCuration	2017-10-03
DOID:9005854	Factor XIII, A Subunit, Deficiency Of	skos:exactMatch	MIM:613225	Factor XIIIA deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9005855	Microcephalic Primordial Dwarfism Toriello Type	skos:exactMatch	MIM:251190	MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE	semapv:ManualMappingCuration	
DOID:9005857	Prostate Cancer, Hereditary, 8	skos:exactMatch	MIM:602759	{Prostate cancer, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9005859	Reese Retinal Dysplasia	skos:exactMatch	MIM:266400	REESE RETINAL DYSPLASIA	semapv:ManualMappingCuration	
DOID:9005863	Methylmalonic Aciduria and Homocystinuria, cblJ Type	skos:exactMatch	MIM:614857	Methylmalonic aciduria and homocystinuria, cblJ type	semapv:ManualMappingCuration	2014-09-09
DOID:9005864	Autosomal Dominant Intellectual Developmental Disorder 61	skos:exactMatch	MIM:618009	Intellectual developmental disorder, autosomal dominant 61	semapv:ManualMappingCuration	2020-02-03
DOID:9005870	Nephrotic Syndrome Type 26	skos:exactMatch	MIM:620049	Nephrotic syndrome, type 26	semapv:ManualMappingCuration	2022-09-27
DOID:9005871	Thrombocytopenia, Cyclic	skos:exactMatch	MIM:188020	THROMBOCYTOPENIA, CYCLIC	semapv:ManualMappingCuration	
DOID:9005872	Dystelephalangy	skos:exactMatch	MIM:128000	DYSTELEPHALANGY	semapv:ManualMappingCuration	
DOID:9005874	Coloboma of Macula and Skeletal Anomalies	skos:exactMatch	MIM:216800	COLOBOMA OF MACULA AND SKELETAL ANOMALIES	semapv:ManualMappingCuration	2022-12-05
DOID:9005877	Corneal Dystrophy, Fuchs' Endothelial, 2	skos:exactMatch	MIM:610158	Corneal dystrophy, Fuchs endothelial, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005881	Chilblain Lupus 1	skos:exactMatch	MIM:610448	Chilblain lupus	semapv:ManualMappingCuration	2017-10-03
DOID:9005884	Potassium Aggravated Myotonia	skos:exactMatch	MIM:608390	Myotonia congenita, atypical, acetazolamide-responsive	semapv:ManualMappingCuration	2017-10-03
DOID:9005885	Ataxia with Myoclonic Epilepsy and Presenile Dementia	skos:exactMatch	MIM:208700	ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA	semapv:ManualMappingCuration	
DOID:9005886	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE	skos:exactMatch	MIM:619345	Dysostosis multiplex, Ain-Naz type	semapv:ManualMappingCuration	2021-08-12
DOID:9005887	Hunter-McAlpine Syndrome	skos:exactMatch	MIM:601379	HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME	semapv:ManualMappingCuration	
DOID:9005888	Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia	skos:exactMatch	MIM:266255	RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA	semapv:ManualMappingCuration	2022-11-08
DOID:9005891	Combined Pituitary Hormone Deficiency 6	skos:exactMatch	MIM:613986	Pituitary hormone deficiency, combined, 6	semapv:ManualMappingCuration	2014-09-09
DOID:9005894	Childhood-Onset Remitting Leukodystrophy	skos:exactMatch	MIM:619864	?Leukodystrophy, childhood-onset, remitting	semapv:ManualMappingCuration	2022-05-11
DOID:9005895	Congenital Cataracts, Hearing Loss, and Neurodegeneration	skos:exactMatch	MIM:614482	Huppke-Brendel syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9005897	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES	skos:exactMatch	MIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	semapv:ManualMappingCuration	2019-09-13
DOID:9005900	Seckel syndrome 11	skos:exactMatch	MIM:620767	Seckel syndrome 11	semapv:ManualMappingCuration	2024-04-22
DOID:9005902	Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus	skos:exactMatch	MIM:202900	ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS	semapv:ManualMappingCuration	
DOID:9005904	Glucocorticoid Deficiency 4	skos:exactMatch	MIM:614736	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:9005905	Type 2 Diabetes Mellitus 5	skos:exactMatch	MIM:616087	{Diabetes mellitus, noninsulin-dependent, 5}	semapv:ManualMappingCuration	2017-03-03
DOID:9005909	Keratoconus 2	skos:exactMatch	MIM:608932	Keratoconus 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005911	Hyperapobetalipoproteinemia	skos:exactMatch	MIM:170998	null	semapv:ManualMappingCuration	2015-07-16
DOID:9005912	Congenital Nonspherocytic Hemolytic Anemia 4	skos:exactMatch	MIM:613470	Anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient	semapv:ManualMappingCuration	2014-06-23
DOID:9005913	Keratoconus and Congenital Hip Dysplasia	skos:exactMatch	MIM:244510	KERATOCONUS AND CONGENITAL HIP DYSPLASIA	semapv:ManualMappingCuration	
DOID:9005914	Cubitus Valgus with Impaired Intellectual Development and Unusual Facies	skos:exactMatch	MIM:300471	Cubitus valgus with impaired intellectual development and unusual facies	semapv:ManualMappingCuration	2017-10-03
DOID:9005917	Neuhauser Eichner Opitz Syndrome	skos:exactMatch	MIM:130950	ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD	semapv:ManualMappingCuration	
DOID:9005918	Fountain Syndrome	skos:exactMatch	MIM:229120	FOUNTAIN SYNDROME	semapv:ManualMappingCuration	2017-05-30
DOID:9005922	Myopathy with Storage of Glycoproteins and Glycosaminoglycans	skos:exactMatch	MIM:160570	MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS	semapv:ManualMappingCuration	
DOID:9005923	CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED	skos:exactMatch	MIM:300864	Cerebral-cerebellar-coloboma syndrome, X-linked	semapv:ManualMappingCuration	2018-10-10
DOID:9005925	Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency	skos:exactMatch	MIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9005933	Lazy Leukocyte Syndrome	skos:exactMatch	MIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome	semapv:ManualMappingCuration	
DOID:9005937	Deafness-Hypogonadism Syndrome	skos:exactMatch	MIM:304350	DEAFNESS-HYPOGONADISM SYNDROME	semapv:ManualMappingCuration	2022-11-29
DOID:9005938	Mesoaxial Synostotic Syndactyly with Phalangeal Reduction	skos:exactMatch	MIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	semapv:ManualMappingCuration	2017-10-03
DOID:9005945	Dermoids of Cornea	skos:exactMatch	MIM:304730	Dermoids of cornea	semapv:ManualMappingCuration	2017-10-03
DOID:9005946	Mononeuropathy of the Median Nerve, Mild	skos:exactMatch	MIM:613353	Mononeuropathy of the median nerve, mild	semapv:ManualMappingCuration	2014-06-23
DOID:9005948	2,4-Dienoyl-CoA Reductase Deficiency	skos:exactMatch	MIM:616034	2,4-dienoyl-CoA reductase deficiency	semapv:ManualMappingCuration	2017-10-10
DOID:9005950	Orthostatic Hypotension	skos:exactMatch	MIM:PS223360	Orthostatic hypotension 1, due to DBH deficiency	semapv:ManualMappingCuration	2019-03-19
DOID:9005951	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES	skos:exactMatch	MIM:620001	Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities	semapv:ManualMappingCuration	2024-03-26
DOID:9005958	Neurofibromatosis Type 3, Mixed Central and Peripheral	skos:exactMatch	MIM:162260	NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL	semapv:ManualMappingCuration	2018-08-21
DOID:9005960	Primary Ciliary Dyskinesia 51	skos:exactMatch	MIM:620438	Ciliary dyskinesia, primary, 51	semapv:ManualMappingCuration	2023-07-07
DOID:9005961	Familial Hypercholanemia 1	skos:exactMatch	MIM:607748	Hypercholanemia, familial 1	semapv:ManualMappingCuration	2017-10-03
DOID:9005962	Multiple Pterygium Syndrome, Lethal Type	skos:exactMatch	MIM:253290	Multiple pterygium syndrome, lethal type	semapv:ManualMappingCuration	2014-06-23
DOID:9005963	Distal Arthrogryposis, with Impaired Proprioception and Touch	skos:exactMatch	MIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	semapv:ManualMappingCuration	2016-11-08
DOID:9005964	Pigmentary Dilution	skos:exactMatch	MIM:126070	DILUTION, PIGMENTARY	semapv:ManualMappingCuration	
DOID:9005965	Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus	skos:exactMatch	MIM:158500	MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS	semapv:ManualMappingCuration	
DOID:9005970	Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis	skos:exactMatch	MIM:609069	Pancreatic and cerebellar agenesis	semapv:ManualMappingCuration	2017-10-03
DOID:9005973	Lelis Syndrome	skos:exactMatch	MIM:608290	LELIS SYNDROME	semapv:ManualMappingCuration	
DOID:9005976	Pulmonary Surfactant Metabolism Dysfunction 2	skos:exactMatch	MIM:610913	Surfactant metabolism dysfunction, pulmonary, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005978	Cerebellar Ataxia and Ectodermal Dysplasia	skos:exactMatch	MIM:212835	CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA	semapv:ManualMappingCuration	
DOID:9005979	Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine	skos:exactMatch	MIM:618412	Global developmental delay, progressive ataxia, and elevated glutamine	semapv:ManualMappingCuration	2019-05-24
DOID:9005980	Ramon Syndrome	skos:exactMatch	MIM:266270	RAMON SYNDROME	semapv:ManualMappingCuration	
DOID:9005983	Cerebroretinal Microangiopathy with Calcifications and Cysts 2	skos:exactMatch	MIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	semapv:ManualMappingCuration	2017-06-13
DOID:9005984	Multisystem Autoimmune Disease, Infantile-Onset, 2	skos:exactMatch	MIM:617006	Autoimmune disease, multisystem, infantile-onset, 2	semapv:ManualMappingCuration	2016-07-14
DOID:9005986	Familial Behcet-Like Autoinflammatory Syndrome	skos:exactMatch	MIM:PS616744	Autoinflammatory syndrome, familial, Behcet-like 1	semapv:ManualMappingCuration	2023-07-07
DOID:9005991	Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	skos:exactMatch	MIM:601794	COLOBOMA-OBESITY-HYPOGENITALISM-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	semapv:ManualMappingCuration	
DOID:9005992	Rothmund-Thomson Syndrome Type 2	skos:exactMatch	MIM:268400	Rothmund-Thomson syndrome, type 2	semapv:ManualMappingCuration	2017-10-03
DOID:9005993	Tonoki Syndrome	skos:exactMatch	MIM:603396	TONOKI SYNDROME	semapv:ManualMappingCuration	
DOID:9005994	Immotile Cilia Syndrome, due to Excessively Long Cilia	skos:exactMatch	MIM:242680	CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA	semapv:ManualMappingCuration	2022-12-06
DOID:9005995	Developmental and Epileptic Encephalopathy 115	skos:exactMatch	MIM:620783	Developmental and epileptic encephalopathy 115	semapv:ManualMappingCuration	2024-05-10
DOID:9005996	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5	skos:exactMatch	MIM:619141	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	semapv:ManualMappingCuration	2021-01-07
DOID:9005999	Hyperostosis Frontalis Interna	skos:exactMatch	MIM:144800	HYPEROSTOSIS FRONTALIS INTERNA	semapv:ManualMappingCuration	
DOID:9006001	Mental Retardation and Distinctive Facial Features with or without Cardiac Defects	skos:exactMatch	MIM:616789	Impaired intellectual development and distinctive facial features with or without cardiac defects	semapv:ManualMappingCuration	2016-03-11
DOID:9006005	Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB	skos:exactMatch	MIM:613729	Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb	semapv:ManualMappingCuration	2014-06-23
DOID:9006015	Posterior Lumbosacral Vertebral Fusion with Blepharoptosis	skos:exactMatch	MIM:192800	VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS	semapv:ManualMappingCuration	
DOID:9006016	SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS	skos:exactMatch	MIM:618875	Seizures, early-onset, with neurodegeneration and brain calcification	semapv:ManualMappingCuration	2020-08-17
DOID:9006017	Skin/Hair/Eye Pigmentation, Variation In, 5	skos:exactMatch	MIM:227240	[Skin/hair/eye pigmentation 5, dark/fair skin]	semapv:ManualMappingCuration	
DOID:9006019	Frias Syndrome	skos:exactMatch	MIM:609640	Frias syndrome	semapv:ManualMappingCuration	
DOID:9006020	Pyknoachondrogenesis	skos:exactMatch	MIM:265880	PYKNOACHONDROGENESIS	semapv:ManualMappingCuration	
DOID:9006021	Immunodeficiency 107	skos:exactMatch	MIM:619986	{Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection}	semapv:ManualMappingCuration	2022-08-15
DOID:9006022	Gingival Fibromatosis with Distinctive Facies	skos:exactMatch	MIM:228560	FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES	semapv:ManualMappingCuration	
DOID:9006025	Diaminopentanuria	skos:exactMatch	MIM:222350	DIAMINOPENTANURIA	semapv:ManualMappingCuration	
DOID:9006026	Jejunal Atresia with Renal Adysplasia	skos:exactMatch	MIM:602551	JEJUNAL ATRESIA WITH RENAL ADYSPLASIA	semapv:ManualMappingCuration	2018-05-16
DOID:9006028	Mammary-Digital-Nail Syndrome	skos:exactMatch	MIM:613689	Mammary-digital-nail syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:9006029	Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting	skos:exactMatch	MIM:605856	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, CALLOSAL AGENESIS, HEMINASAL HYPOPLASIA, MICROPHTHALMIA, AND ATYPICAL CLEFTING	semapv:ManualMappingCuration	
DOID:9006032	NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE	skos:exactMatch	MIM:168885	Neuroocular syndrome 2, paroxysmal type	semapv:ManualMappingCuration	
DOID:9006033	Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects	skos:exactMatch	MIM:603394	MICROCEPHALY, SEVERE, WITH SKELETAL ANOMALIES INCLUDING POSTERIOR RIB-GAP DEFECTS	semapv:ManualMappingCuration	
DOID:9006034	Pseudohypoaldosteronism, Type IIC	skos:exactMatch	MIM:614492	Pseudohypoaldosteronism, type IIC	semapv:ManualMappingCuration	2014-10-20
DOID:9006036	Auriculocondylar Syndrome 2	skos:exactMatch	MIM:614669	Auriculocondylar syndrome 2A	semapv:ManualMappingCuration	2014-09-02
DOID:9006036	Auriculocondylar Syndrome 2	skos:exactMatch	MIM:620458	Auriculocondylar syndrome 2B	semapv:ManualMappingCuration	2023-08-04
DOID:9006037	Ectrodactyly-Polydactyly	skos:exactMatch	MIM:225290	ECTRODACTYLY-POLYDACTYLY	semapv:ManualMappingCuration	
DOID:9006043	Erythrocyte Amp Deaminase Deficiency	skos:exactMatch	MIM:612874	[AMP deaminase deficiency, erythrocytic]	semapv:ManualMappingCuration	2017-10-10
DOID:9006044	Microvillus Inclusion Disease 2	skos:exactMatch	MIM:619445	Diarrhea 12, with microvillus atrophy	semapv:ManualMappingCuration	2021-07-27
DOID:9006048	Major Affective Disorder 7	skos:exactMatch	MIM:612371	{Major affective disorder-7, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9006049	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES	skos:exactMatch	MIM:620292	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	semapv:ManualMappingCuration	2023-05-04
DOID:9006054	Multiple Epiphyseal Dysplasia with Severe Proximal Femoral Dysplasia	skos:exactMatch	MIM:609324	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA	semapv:ManualMappingCuration	
DOID:9006055	Metaphyseal Chondrodysplasia, Kaitila Type	skos:exactMatch	MIM:250230	METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE	semapv:ManualMappingCuration	
DOID:9006057	Congenital Tracheobronchial Stenosis	skos:exactMatch	MIM:603569	TRACHEOBRONCHIAL STENOSIS, CONGENITAL	semapv:ManualMappingCuration	
DOID:9006059	EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME	skos:exactMatch	MIM:620820	El Hayek-Chahrour neurodevelopmental syndrome	semapv:ManualMappingCuration	2024-06-11
DOID:9006063	Zimmermann-Laband Syndrome 3	skos:exactMatch	MIM:618658	Zimmermann-Laband syndrome 3	semapv:ManualMappingCuration	2019-11-12
DOID:9006066	Familial Cutaneous Collagenoma	skos:exactMatch	MIM:115250	COLLAGENOMA, FAMILIAL CUTANEOUS	semapv:ManualMappingCuration	
DOID:9006067	Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness	skos:exactMatch	MIM:136600	FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURAL DEAFNESS	semapv:ManualMappingCuration	
DOID:9006068	Emanuel Syndrome	skos:exactMatch	MIM:609029	Emanuel syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9006070	Lethal Congenital Erythroderma	skos:exactMatch	MIM:227090	ERYTHRODERMA, LETHAL CONGENITAL	semapv:ManualMappingCuration	
DOID:9006071	Spastic Ataxia 10, Autosomal Recessive	skos:exactMatch	MIM:620666	Spastic ataxia 10, autosomal recessive	semapv:ManualMappingCuration	2024-01-19
DOID:9006072	Neurodegeneration with Brain Iron Accumulation 9	skos:exactMatch	MIM:620669	Neurodegeneration with brain iron accumulation 9	semapv:ManualMappingCuration	2024-01-19
DOID:9006075	Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome	skos:exactMatch	MIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	semapv:ManualMappingCuration	2019-04-15
DOID:9006077	Martinez-Frias Syndrome	skos:exactMatch	MIM:601346	MARTINEZ-FRIAS SYNDROME	semapv:ManualMappingCuration	2017-12-12
DOID:9006078	MHC CLASS I DEFICIENCY 2	skos:exactMatch	MIM:620813	MHC class I deficiency 2	semapv:ManualMappingCuration	2024-06-18
DOID:9006082	Methionine Malabsorption Syndrome	skos:exactMatch	MIM:250900	METHIONINE MALABSORPTION SYNDROME	semapv:ManualMappingCuration	
DOID:9006085	Megalodactyly	skos:exactMatch	MIM:155500	Macrodactyly, somatic	semapv:ManualMappingCuration	
DOID:9006090	Colonic Varices without Portal Hypertension	skos:exactMatch	MIM:120440	COLONIC VARICES WITHOUT PORTAL HYPERTENSION	semapv:ManualMappingCuration	
DOID:9006091	Gurrieri Sammito Bellussi Syndrome	skos:exactMatch	MIM:601187	GURRIERI SYNDROME	semapv:ManualMappingCuration	2022-11-29
DOID:9006092	Spondyloepimetaphyseal Dysplasia, Irapa Type	skos:exactMatch	MIM:271650	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE	semapv:ManualMappingCuration	
DOID:9006094	Conductive Deafness with Malformed External Ear	skos:exactMatch	MIM:221300	DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR	semapv:ManualMappingCuration	
DOID:9006099	5-Oxoprolinase Deficiency	skos:exactMatch	MIM:260005	5-oxoprolinase deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:9006104	Multiple Syringomas	skos:exactMatch	MIM:186600	SYRINGOMAS, MULTIPLE	semapv:ManualMappingCuration	2018-05-23
DOID:9006109	Goodman Camptodactyly	skos:exactMatch	MIM:201020	ACROCEPHALOPOLYSYNDACTYLY TYPE IV	semapv:ManualMappingCuration	
DOID:9006111	Systemic Venular Insufficiency	skos:exactMatch	MIM:192700	VENULAR INSUFFICIENCY, SYSTEMIC	semapv:ManualMappingCuration	
DOID:9006115	Dyskinesia with Orofacial Involvement, Autosomal Dominant	skos:exactMatch	MIM:606703	Dyskinesia with orofacial involvement, autosomal dominant	semapv:ManualMappingCuration	2014-10-20
DOID:9006120	Absent Patella	skos:exactMatch	MIM:168860	Patella aplasia or hypoplasia	semapv:ManualMappingCuration	2017-10-03
DOID:9006123	Mitochondrial Complex III Deficiency Nuclear Type 11	skos:exactMatch	MIM:620137	?Mitochondrial complex III deficiency, nuclear type 11	semapv:ManualMappingCuration	2022-11-29
DOID:9006124	Albinism Deafness Syndrome	skos:exactMatch	MIM:300700	Albinism-deafness syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9006125	Myopia 15	skos:exactMatch	MIM:612717	Myopia 15	semapv:ManualMappingCuration	2017-10-03
DOID:9006127	Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features	skos:exactMatch	MIM:612948	STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSMORPHIC FACIAL FEATURES	semapv:ManualMappingCuration	
DOID:9006128	Kilquist Syndrome	skos:exactMatch	MIM:619080	Kilquist syndrome	semapv:ManualMappingCuration	2020-11-10
DOID:9006130	Prostate Cancer, Hereditary, X-Linked 1	skos:exactMatch	MIM:300147	{Prostate cancer, hereditary, X-linked 1}	semapv:ManualMappingCuration	2014-06-23
DOID:9006131	Genoa Syndrome	skos:exactMatch	MIM:601370	HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS	semapv:ManualMappingCuration	2022-11-29
DOID:9006136	Peripapillary Atrophy, Beta Type	skos:exactMatch	MIM:611650	PERIPAPILLARY ATROPHY, BETA TYPE	semapv:ManualMappingCuration	
DOID:9006137	Renal Tubular Dysgenesis	skos:exactMatch	MIM:267430	Renal tubular dysgenesis	semapv:ManualMappingCuration	2014-06-23
DOID:9006139	Immunodeficiency 89 and Autoimmunity	skos:exactMatch	MIM:619632	?Immunodeficiency 89 and autoimmunity	semapv:ManualMappingCuration	2021-11-30
DOID:9006140	Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies	skos:exactMatch	MIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	semapv:ManualMappingCuration	2017-07-12
DOID:9006141	Childhood Absence Epilepsy 5	skos:exactMatch	MIM:612269	{Epilepsy, childhood absence, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:9006143	Autosomal Recessive Nonsyndromic Deafness 121	skos:exactMatch	MIM:620551	Deafness, autosomal recessive 121	semapv:ManualMappingCuration	2023-10-30
DOID:9006145	Congenital Heart Defects, Multiple Types, 9	skos:exactMatch	MIM:620294	Congenital heart defects, multiple types, 9	semapv:ManualMappingCuration	2023-03-31
DOID:9006147	Lactose Intolerance, Adult Type	skos:exactMatch	MIM:223100	Lactase persistence/nonpersistence	semapv:ManualMappingCuration	2017-10-03
DOID:9006152	Enuresis, Nocturnal, 2	skos:exactMatch	MIM:600808	Enuresis, nocturnal, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9006153	Glycogen Storage Disease XII	skos:exactMatch	MIM:611881	Glycogen storage disease XII	semapv:ManualMappingCuration	2017-10-03
DOID:9006159	Undefined Platelet Disorder	skos:exactMatch	MIM:173420	PLATELET DISORDER, UNDEFINED	semapv:ManualMappingCuration	
DOID:9006163	Microcephaly, Retinitis Pigmentosa, and Sutural Cataract	skos:exactMatch	MIM:601537	MICROCEPHALY, RETINITIS PIGMENTOSA, AND SUTURAL CATARACT	semapv:ManualMappingCuration	
DOID:9006165	Porokeratosis 6, Multiple Types	skos:exactMatch	MIM:612353	Porokeratosis 6, multiple types	semapv:ManualMappingCuration	2014-06-23
DOID:9006167	Partial Agenesis of Corpus Callosum, X-Linked	skos:exactMatch	MIM:304100	?Corpus callosum, partial agenesis of	semapv:ManualMappingCuration	2017-10-03
DOID:9006168	Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive	skos:exactMatch	MIM:604431	POLYNEUROPATHY, LETHAL NEONATAL, AXONAL SENSORIMOTOR, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	
DOID:9006170	Hyperheparinemia	skos:exactMatch	MIM:144050	HYPERHEPARINEMIA	semapv:ManualMappingCuration	2022-06-16
DOID:9006176	Cardioneuromyopathy with Hyaline Masses and Nemaline Rods	skos:exactMatch	MIM:606842	CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS	semapv:ManualMappingCuration	
DOID:9006177	ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES	skos:exactMatch	MIM:620519	Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities	semapv:ManualMappingCuration	2023-11-07
DOID:9006183	Ventriculomegaly and Arthrogryposis	skos:exactMatch	MIM:619501	Ventriculomegaly and arthrogryposis	semapv:ManualMappingCuration	2021-09-01
DOID:9006187	Immunodeficiency 84	skos:exactMatch	MIM:619437	?Immunodeficiency 84	semapv:ManualMappingCuration	2021-08-04
DOID:9006191	Hypoadiponectinemia	skos:exactMatch	MIM:612556	Adiponectin deficiency	semapv:ManualMappingCuration	2017-10-10
DOID:9006192	Oocyte/Zygote/Embryo Maturation Arrest 9	skos:exactMatch	MIM:619011	Oocyte/zygote/embryo maturation arrest 9	semapv:ManualMappingCuration	2020-09-09
DOID:9006194	Complement Component C1s Deficiency	skos:exactMatch	MIM:613783	C1s deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:9006196	Superior Transverse Scapular Ligament, Calcification Of, Familial	skos:exactMatch	MIM:601708	SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL	semapv:ManualMappingCuration	
DOID:9006197	Charcot Marie Tooth Type 1 Aplasia Cutis Congenita	skos:exactMatch	MIM:302803	CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA	semapv:ManualMappingCuration	2019-04-16
DOID:9006204	Oocyte/Zygote/Embryo Maturation Arrest 19	skos:exactMatch	MIM:620333	Oocyte/zygote/embryo maturation arrest 19	semapv:ManualMappingCuration	2023-04-18
DOID:9006206	Sjogren-Larsson-like Syndrome	skos:exactMatch	MIM:270220	SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT	semapv:ManualMappingCuration	
DOID:9006210	Familial Convulsive Disorder with Prenatal or Early Onset	skos:exactMatch	MIM:217200	CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET	semapv:ManualMappingCuration	2021-05-12
DOID:9006212	Midphalangeal Hair	skos:exactMatch	MIM:157200	MIDPHALANGEAL HAIR	semapv:ManualMappingCuration	
DOID:9006216	Acid Phosphatase Deficiency	skos:exactMatch	MIM:200950	?Lysosomal acid phosphatase deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:9006222	Short-Rib Thoracic Dysplasia 16 with or without Polydactyly	skos:exactMatch	MIM:617102	Short-rib thoracic dysplasia 16 with or without polydactyly	semapv:ManualMappingCuration	2017-04-06
DOID:9006224	Reticular Erythrokeratoderma	skos:exactMatch	MIM:609165	Ichthyosis with confetti	semapv:ManualMappingCuration	2014-06-23
DOID:9006225	Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T-Helper Cells	skos:exactMatch	MIM:183350	SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA AND REDUCED CIRCULATING T HELPER CELLS	semapv:ManualMappingCuration	
DOID:9006226	Familial Dermatitis Herpetiformis	skos:exactMatch	MIM:601230	DERMATITIS HERPETIFORMIS, FAMILIAL	semapv:ManualMappingCuration	
DOID:9006227	Congenital Disorder of Glycosylation Type 1O	skos:exactMatch	MIM:612937	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15	semapv:ManualMappingCuration	2017-10-03
DOID:9006228	Hermansky-Pudlak Syndrome 10	skos:exactMatch	MIM:617050	?Hermansky-Pudlak syndrome 10	semapv:ManualMappingCuration	2017-04-26
DOID:9006229	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME	skos:exactMatch	MIM:619518	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	semapv:ManualMappingCuration	2021-10-21
DOID:9006231	Say Meyer Syndrome	skos:exactMatch	MIM:314320	TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY	semapv:ManualMappingCuration	
DOID:9006232	Grant Syndrome	skos:exactMatch	MIM:138930	GRANT SYNDROME	semapv:ManualMappingCuration	
DOID:9006238	Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy	skos:exactMatch	MIM:618741	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	semapv:ManualMappingCuration	2020-03-16
DOID:9006240	Permanent Neonatal Diabetes Mellitus 2	skos:exactMatch	MIM:618856	Diabetes, permanent neonatal 2, with or without neurologic features	semapv:ManualMappingCuration	2020-05-01
DOID:9006242	Lattice Corneal Dystrophy, Type IIIA	skos:exactMatch	MIM:608471	Corneal dystrophy, lattice type IIIA	semapv:ManualMappingCuration	2017-10-03
DOID:9006243	Congenital Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone	skos:exactMatch	MIM:202150	ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE	semapv:ManualMappingCuration	2022-11-14
DOID:9006244	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY	skos:exactMatch	MIM:619338	Cataracts, spastic paraparesis, and speech delay	semapv:ManualMappingCuration	2021-06-10
DOID:9006247	Aortic Arch Anomaly with Peculiar Facies and Mental Retardation	skos:exactMatch	MIM:107500	AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9006248	Adrenomyodystrophy	skos:exactMatch	MIM:300270	ADRENOMYODYSTROPHY	semapv:ManualMappingCuration	2022-12-05
DOID:9006249	RADIO-TARTAGLIA SYNDROME	skos:exactMatch	MIM:619312	Radio-Tartaglia syndrome	semapv:ManualMappingCuration	2021-06-22
DOID:9006250	Hyperpigmentation of Fuldauer and Kuijpers	skos:exactMatch	MIM:145200	HYPERPIGMENTATION OF FULDAUER AND KUIJPERS	semapv:ManualMappingCuration	
DOID:9006251	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1	skos:exactMatch	MIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	semapv:ManualMappingCuration	2017-10-03
DOID:9006254	Microcephaly Albinism Digital Anomalies Syndrome	skos:exactMatch	MIM:203340	ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME	semapv:ManualMappingCuration	
DOID:9006255	Sacroiliac Arthritis	skos:exactMatch	MIM:108100	ARTHRITIS, SACROILIAC	semapv:ManualMappingCuration	2019-02-28
DOID:9006258	Ocular Myopathy with Curare Sensitivity	skos:exactMatch	MIM:257600	OCULAR MYOPATHY WITH CURARE SENSITIVITY	semapv:ManualMappingCuration	
DOID:9006259	Nonspherocytic Hemolytic Anemia, possibly due to Defect in Porphyrin Metabolism	skos:exactMatch	MIM:206400	ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN METABOLISM	semapv:ManualMappingCuration	2018-08-21
DOID:9006264	Beck-Fahrner Syndrome	skos:exactMatch	MIM:618798	Beck-Fahrner syndrome	semapv:ManualMappingCuration	2020-06-15
DOID:9006269	Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone	skos:exactMatch	MIM:223500	DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE	semapv:ManualMappingCuration	
DOID:9006270	Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects	skos:exactMatch	MIM:620083	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	semapv:ManualMappingCuration	2022-10-24
DOID:9006272	Microcephaly, Short Stature, and Impaired Glucose Metabolism 2	skos:exactMatch	MIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	semapv:ManualMappingCuration	2017-05-09
DOID:9006274	UV-Sensitive Syndrome 1	skos:exactMatch	MIM:600630	UV-sensitive syndrome 1	semapv:ManualMappingCuration	2018-02-01
DOID:9006275	Adams-Oliver Syndrome 3	skos:exactMatch	MIM:614814	Adams-Oliver syndrome 3	semapv:ManualMappingCuration	2014-09-02
DOID:9006276	Congenital Nonspherocytic Hemolytic Anemia 5	skos:exactMatch	MIM:235700	Anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient	semapv:ManualMappingCuration	2014-06-23
DOID:9006277	COACH Syndrome 2	skos:exactMatch	MIM:619111	COACH syndrome 2	semapv:ManualMappingCuration	2020-12-02
DOID:9006278	Bethlem Myopathy 2	skos:exactMatch	MIM:616471	Bethlem myopathy 2	semapv:ManualMappingCuration	2017-02-24
DOID:9006279	Mental Retardation, Buenos Aires Type	skos:exactMatch	MIM:249630	MUTCHINICK SYNDROME	semapv:ManualMappingCuration	
DOID:9006280	Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies	skos:exactMatch	MIM:611555	RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DISTINCTIVE FACIES	semapv:ManualMappingCuration	2022-12-16
DOID:9006282	Onychotrichodysplasia and Neutropenia	skos:exactMatch	MIM:258360	ONYCHOTRICHODYSPLASIA AND NEUTROPENIA	semapv:ManualMappingCuration	
DOID:9006284	Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response	skos:exactMatch	MIM:300184	HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAINSTEM RESPONSES	semapv:ManualMappingCuration	
DOID:9006286	Congenital Muscular Dystrophy, Davignon-Chauveau Type	skos:exactMatch	MIM:617066	?Muscular dystrophy, congenital, Davignon-Chauveau type	semapv:ManualMappingCuration	2017-03-13
DOID:9006287	Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy	skos:exactMatch	MIM:250450	METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY	semapv:ManualMappingCuration	
DOID:9006288	INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM	skos:exactMatch	MIM:619911	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	semapv:ManualMappingCuration	2022-12-09
DOID:9006289	Myopia 2	skos:exactMatch	MIM:160700	Myopia 2	semapv:ManualMappingCuration	2017-10-03
DOID:9006295	HEART AND BRAIN MALFORMATION SYNDROME	skos:exactMatch	MIM:616920	Heart and brain malformation syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:9006297	Hydatidiform Mole, Recurrent, 2	skos:exactMatch	MIM:614293	Hydatidiform mole, recurrent, 2	semapv:ManualMappingCuration	2014-09-09
DOID:9006298	Stankiewicz-Isidor Syndrome	skos:exactMatch	MIM:617516	Stankiewicz-Isidor syndrome	semapv:ManualMappingCuration	2017-07-12
DOID:9006299	Mental Retardation, Autosomal Recessive 42	skos:exactMatch	MIM:615802	Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities	semapv:ManualMappingCuration	2014-09-09
DOID:9006300	Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts	skos:exactMatch	MIM:120040	COCHLEOSACCULAR DEGENERATION WITH PROGRESSIVE CATARACTS	semapv:ManualMappingCuration	
DOID:9006301	HEPATORENOCARDIAC DEGENERATIVE FIBROSIS	skos:exactMatch	MIM:619902	Hepatorenocardiac degenerative fibrosis	semapv:ManualMappingCuration	2022-07-29
DOID:9006303	Familial Hyperaldosteronism, Type II	skos:exactMatch	MIM:605635	Hyperaldosteronism, familial, type II	semapv:ManualMappingCuration	2017-10-03
DOID:9006304	Cutaneous Hyperthermia with Headaches and Nausea	skos:exactMatch	MIM:145590	HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA	semapv:ManualMappingCuration	
DOID:9006307	Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas	skos:exactMatch	MIM:127820	DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS	semapv:ManualMappingCuration	
DOID:9006312	Goniodysgenesis-Mental Retardation-Short Stature Syndrome	skos:exactMatch	MIM:138770	GMS SYNDROME	semapv:ManualMappingCuration	
DOID:9006314	Bent Bone Dysplasia Syndrome	skos:exactMatch	MIM:PS614592	Bent bone dysplasia syndrome	semapv:ManualMappingCuration	2022-10-17
DOID:9006316	Spinocerebellar Ataxia 27A	skos:exactMatch	MIM:193003	Spinocerebellar ataxia 27A	semapv:ManualMappingCuration	2017-10-03
DOID:9006317	Dykes Markes Harper Syndrome	skos:exactMatch	MIM:242520	ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION	semapv:ManualMappingCuration	2022-12-06
DOID:9006323	Myopathy with Lactic Acidosis, Hereditary	skos:exactMatch	MIM:255125	Myopathy with lactic acidosis, hereditary	semapv:ManualMappingCuration	2017-10-03
DOID:9006324	Isolated Growth Hormone Deficiency, Partial	skos:exactMatch	MIM:615925	Growth hormone deficiency, isolated partial	semapv:ManualMappingCuration	2020-01-17
DOID:9006327	Bone Marrow Failure Syndrome 4	skos:exactMatch	MIM:618116	Bone marrow failure syndrome 4	semapv:ManualMappingCuration	2019-03-15
DOID:9006328	AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED	skos:exactMatch	MIM:301109	Autoinflammatory disease, multisystem, with immune dysregulation, X-linked	semapv:ManualMappingCuration	2023-08-08
DOID:9006331	Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities	skos:exactMatch	MIM:619091	Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive	semapv:ManualMappingCuration	2021-01-18
DOID:9006333	Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome	skos:exactMatch	MIM:614748	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9006335	Thyrotropin-Releasing Hormone Deficiency	skos:exactMatch	MIM:275120	Thyrotropin-releasing hormone deficiency	semapv:ManualMappingCuration	2014-06-23
DOID:9006336	Hemolytic Anemia with Thermal Sensitivity of Red Cells	skos:exactMatch	MIM:235370	HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS	semapv:ManualMappingCuration	
DOID:9006337	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome	skos:exactMatch	MIM:612469	WAGRO syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9006340	Pheochromocytoma Islet Cell Tumor Syndrome	skos:exactMatch	MIM:171420	PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME	semapv:ManualMappingCuration	2022-12-05
DOID:9006341	C1q Deficiency 2	skos:exactMatch	MIM:620321	C1q deficiency 2	semapv:ManualMappingCuration	2023-04-14
DOID:9006342	Tessadori-van Haaften Neurodevelopmental Syndrome 4	skos:exactMatch	MIM:619951	Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4	semapv:ManualMappingCuration	2022-07-18
DOID:9006344	Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities	skos:exactMatch	MIM:618354	Houge-Janssens syndrome 3	semapv:ManualMappingCuration	2019-04-16
DOID:9006346	Steatocystoma Multiplex with Natal Teeth	skos:exactMatch	MIM:184510	STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH	semapv:ManualMappingCuration	2022-12-05
DOID:9006347	Skeletal Defects, Genital Hypoplasia, And Mental Retardation	skos:exactMatch	MIM:612447	SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	2017-10-03
DOID:9006348	Total Anonychia with Microcephaly	skos:exactMatch	MIM:607214	ANONYCHIA, TOTAL, WITH MICROCEPHALY	semapv:ManualMappingCuration	
DOID:9006351	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES	skos:exactMatch	MIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	semapv:ManualMappingCuration	2019-09-16
DOID:9006352	Benign Familial Hematuria 1	skos:exactMatch	MIM:141200	Hematuria, familial benign, 1	semapv:ManualMappingCuration	2023-04-14
DOID:9006353	Congenital Hypertrichosis Lanuginosa	skos:exactMatch	MIM:145700	HYPERTRICHOSIS LANUGINOSA CONGENITA	semapv:ManualMappingCuration	2017-10-03
DOID:9006357	UV-Sensitive Syndrome 3	skos:exactMatch	MIM:614640	UV-sensitive syndrome 3	semapv:ManualMappingCuration	2014-09-02
DOID:9006366	Cataract 50 with or without Glaucoma	skos:exactMatch	MIM:620253	?Cataract 50 with or without glaucoma	semapv:ManualMappingCuration	2023-02-20
DOID:9006368	Cutaneous Photosensitivity and Colitis, Lethal	skos:exactMatch	MIM:219095	CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL	semapv:ManualMappingCuration	2022-11-21
DOID:9006370	Spastic Paraplegia and Evans Syndrome	skos:exactMatch	MIM:601608	SPASTIC PARAPLEGIA AND EVANS SYNDROME	semapv:ManualMappingCuration	
DOID:9006373	Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia	skos:exactMatch	MIM:608720	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA	semapv:ManualMappingCuration	
DOID:9006375	Amish Lethal Microcephaly	skos:exactMatch	MIM:607196	Microcephaly, Amish type	semapv:ManualMappingCuration	2017-10-03
DOID:9006377	Mosaic Variegated Aneuploidy Syndrome 5	skos:exactMatch	MIM:620184	Atelis syndrome 1	semapv:ManualMappingCuration	2023-01-10
DOID:9006378	Facial Hemihypertrophy	skos:exactMatch	MIM:133900	HEMIFACIAL HYPERPLASIA	semapv:ManualMappingCuration	2022-11-14
DOID:9006382	X-Linked Hydrocephalus	skos:exactMatch	MIM:307000	Hydrocephalus, congenital, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:9006383	Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities	skos:exactMatch	MIM:620024	Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities	semapv:ManualMappingCuration	2022-11-14
DOID:9006384	Carotid Intimal Medial Thickness 2	skos:exactMatch	MIM:608447	Carotid intimal medial thickness	semapv:ManualMappingCuration	2014-06-23
DOID:9006386	Scapulohumeral Muscular Dystrophy	skos:exactMatch	MIM:600416	MUSCULAR DYSTROPHY, SCAPULOHUMERAL	semapv:ManualMappingCuration	2018-08-23
DOID:9006387	Mitochondrial Phosphate Carrier Deficiency	skos:exactMatch	MIM:610773	Mitochondrial phosphate carrier deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9006393	Dowling-Degos Disease 2	skos:exactMatch	MIM:615327	Dowling-Degos disease 2	semapv:ManualMappingCuration	2014-09-09
DOID:9006394	CLAPO Syndrome	skos:exactMatch	MIM:613089	CLAPO syndrome, somatic	semapv:ManualMappingCuration	
DOID:9006396	Red Skin Pigment Anomaly of New Guinea	skos:exactMatch	MIM:266350	RED SKIN PIGMENT ANOMALY OF NEW GUINEA	semapv:ManualMappingCuration	
DOID:9006397	Ectodermal Dysplasia-Skin Fragility Syndrome	skos:exactMatch	MIM:604536	Ectodermal dysplasia/skin fragility syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9006402	Odontomicronychial Dysplasia	skos:exactMatch	MIM:601319	ODONTOMICRONYCHIAL DYSPLASIA	semapv:ManualMappingCuration	
DOID:9006404	Tubulointerstitial Nephritis and Uveitis	skos:exactMatch	MIM:607665	TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS	semapv:ManualMappingCuration	
DOID:9006405	Pancreatic Lipase Deficiency	skos:exactMatch	MIM:614338	?Pancreatic lipase deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:9006407	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 29	skos:exactMatch	MIM:620793	Muscular dystrophy, limb-girdle, autosomal recessive 29	semapv:ManualMappingCuration	2024-07-30
DOID:9006408	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES	skos:exactMatch	MIM:620785	Neurodevelopmental disorder with progressive movement abnormalities	semapv:ManualMappingCuration	2024-07-12
DOID:9006410	Optic Atrophy 15	skos:exactMatch	MIM:620583	Optic atrophy 15	semapv:ManualMappingCuration	2023-12-04
DOID:9006413	Autosomal Dominant Intellectual Developmental Disorder 72	skos:exactMatch	MIM:620439	Intellectual developmental disorder, autosomal dominant 72	semapv:ManualMappingCuration	2023-07-07
DOID:9006415	Epidermodysplasia Verruciformis 2	skos:exactMatch	MIM:618231	{Epidermodysplasia verruciformis, susceptibility to, 2}	semapv:ManualMappingCuration	2019-01-14
DOID:9006416	Platelet Prostacyclin Receptor Defect	skos:exactMatch	MIM:262875	PLATELET PROSTACYCLIN RECEPTOR DEFECT	semapv:ManualMappingCuration	
DOID:9006417	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	skos:exactMatch	MIM:619365	?Megacystis-microcolon-intestinal hypoperistalsis syndrome 4	semapv:ManualMappingCuration	2021-06-23
DOID:9006418	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA	skos:exactMatch	MIM:618718	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	semapv:ManualMappingCuration	2020-01-14
DOID:9006419	Congenital Microcoria	skos:exactMatch	MIM:156600	Microcoria, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:9006423	Nephronophthisis-like Nephropathy 2	skos:exactMatch	MIM:619468	?Nephronophthisis-like nephropathy 2	semapv:ManualMappingCuration	2021-08-13
DOID:9006427	QT Interval, Variation In	skos:exactMatch	MIM:610141	[QT interval, variation in]	semapv:ManualMappingCuration	2014-06-23
DOID:9006428	Hypoglossia with Situs Inversus	skos:exactMatch	MIM:612776	HYPOGLOSSIA WITH SITUS INVERSUS	semapv:ManualMappingCuration	2019-04-16
DOID:9006431	Metaphyseal Chondrodysplasia with Retinitis Pigmentosa	skos:exactMatch	MIM:250410	Retinitis pigmentosa with or without skeletal anomalies	semapv:ManualMappingCuration	2017-10-10
DOID:9006435	Mental Retardation Wolff Type	skos:exactMatch	MIM:277990	WOLFF SYNDROME	semapv:ManualMappingCuration	
DOID:9006437	Macular Degeneration, Early-Onset	skos:exactMatch	MIM:616118	Macular degeneration, early-onset	semapv:ManualMappingCuration	2015-03-10
DOID:9006438	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma	skos:exactMatch	MIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	semapv:ManualMappingCuration	2014-09-09
DOID:9006444	Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia	skos:exactMatch	MIM:609945	BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA	semapv:ManualMappingCuration	
DOID:9006445	Congenital Amegakaryocytic Thrombocytopenia 1	skos:exactMatch	MIM:604498	Amegakaryocytic thrombocytopenia, congenital, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9006448	Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification	skos:exactMatch	MIM:221995	DIABETES INSIPIDUS, NEPHROGENIC, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND INTRACEREBRAL CALCIFICATION	semapv:ManualMappingCuration	
DOID:9006450	Familial Natural Short Sleep 2	skos:exactMatch	MIM:618591	?[Short sleep, familial natural, 2]	semapv:ManualMappingCuration	2019-10-11
DOID:9006452	Otodental Dysplasia	skos:exactMatch	MIM:166750	Otodental dysplasia chromosome deletion syndrome	semapv:ManualMappingCuration	2022-11-29
DOID:9006455	Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss	skos:exactMatch	MIM:617294	Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy	semapv:ManualMappingCuration	2017-10-10
DOID:9006458	Congenital Pulmonary Lymphangiectasia	skos:exactMatch	MIM:265300	LYMPHANGIECTASIA, PULMONARY, CONGENITAL	semapv:ManualMappingCuration	2017-10-03
DOID:9006459	BURATTI-HAREL SYNDROME	skos:exactMatch	MIM:619314	Buratti-Harel syndrome	semapv:ManualMappingCuration	2021-08-10
DOID:9006461	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease	skos:exactMatch	MIM:PS616263	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease	semapv:ManualMappingCuration	2024-09-09
DOID:9006464	Storage of Unusual Polysaccharide	skos:exactMatch	MIM:263600	POLYSACCHARIDE, STORAGE OF UNUSUAL	semapv:ManualMappingCuration	
DOID:9006465	Meconium Ileus	skos:exactMatch	MIM:614665	Meconium ileus	semapv:ManualMappingCuration	2014-09-09
DOID:9006467	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS	skos:exactMatch	MIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	semapv:ManualMappingCuration	2019-08-05
DOID:9006471	Immunodeficiency 106	skos:exactMatch	MIM:619935	Immunodeficiency 106, susceptibility to viral infections	semapv:ManualMappingCuration	2022-07-01
DOID:9006472	Pseudoarthrogryposis	skos:exactMatch	MIM:177300	PSEUDOARTHROGRYPOSIS	semapv:ManualMappingCuration	
DOID:9006475	Glycoprotein Storage Disease	skos:exactMatch	MIM:232900	GLYCOPROTEIN STORAGE DISEASE	semapv:ManualMappingCuration	
DOID:9006481	Imerslund-Grasbeck Syndrome 1	skos:exactMatch	MIM:261100	Imerslund-Grasbeck syndrome 1	semapv:ManualMappingCuration	2014-06-23
DOID:9006482	Pulmonary Function	skos:exactMatch	MIM:608852	{Pulmonary function}	semapv:ManualMappingCuration	2014-06-23
DOID:9006484	Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity	skos:exactMatch	MIM:615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	semapv:ManualMappingCuration	2014-09-09
DOID:9006485	Hyper-IgE Recurrent Infection Syndrome 6	skos:exactMatch	MIM:620532	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections	semapv:ManualMappingCuration	2023-10-09
DOID:9006486	Vertebral Hypoplasia with Lumbar Kyphosis	skos:exactMatch	MIM:192900	VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS	semapv:ManualMappingCuration	
DOID:9006489	Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia	skos:exactMatch	MIM:226110	ENDOTHELIAL DYSTROPHY, CONGENITAL HEREDITARY, WITH NAIL HYPOPLASIA	semapv:ManualMappingCuration	2018-05-23
DOID:9006494	Follicular Thyroid Cancer	skos:exactMatch	MIM:188470	Thyroid carcinoma, follicular, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:9006498	Familial Lifelong Persistent Fever	skos:exactMatch	MIM:228400	FEVER, FAMILIAL LIFELONG PERSISTENT	semapv:ManualMappingCuration	
DOID:9006503	Hemifacial Spasm, Familial	skos:exactMatch	MIM:141405	HEMIFACIAL SPASM, FAMILIAL	semapv:ManualMappingCuration	
DOID:9006506	Narcolepsy 7	skos:exactMatch	MIM:614250	?Narcolepsy 7	semapv:ManualMappingCuration	2014-09-09
DOID:9006507	Marfanoid Habitus with Microcephaly and Glomerulonephritis	skos:exactMatch	MIM:248760	MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS	semapv:ManualMappingCuration	2022-12-06
DOID:9006512	Parkinson's Disease 10	skos:exactMatch	MIM:606852	{Parkinson disease 10}	semapv:ManualMappingCuration	2017-10-03
DOID:9006513	Oocyte Maturation Defect 1	skos:exactMatch	MIM:615774	Oocyte/zygote/embryo maturation arrest 1	semapv:ManualMappingCuration	2014-09-09
DOID:9006514	Severe Hepatic Fibrosis due to Schistosoma Mansoni Infection	skos:exactMatch	MIM:604201	{Hepatic fibrosis susceptibility due to Schistosoma mansoni infection}	semapv:ManualMappingCuration	2014-06-23
DOID:9006517	Chromosome 18, Tetrasomy 18p	skos:exactMatch	MIM:614290	Tetrasomy 18p	semapv:ManualMappingCuration	
DOID:9006518	DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS	skos:exactMatch	MIM:620065	Developmental delay, behavioral abnormalities, and neuropsychiatric disorders	semapv:ManualMappingCuration	2022-12-06
DOID:9006519	Generalized Epidermolysis Bullosa Simplex 1D	skos:exactMatch	MIM:601001	Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:9006527	Lentiginosis Profusa	skos:exactMatch	MIM:151001	LENTIGINOSIS, INHERITED PATTERNED	semapv:ManualMappingCuration	2017-10-03
DOID:9006529	Craniofacioskeletal Syndrome	skos:exactMatch	MIM:300712	?Craniofacioskeletal syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9006542	Primary Autosomal Recessive Microcephaly 26	skos:exactMatch	MIM:619179	Microcephaly 26, primary, autosomal dominant	semapv:ManualMappingCuration	2021-02-22
DOID:9006543	Facial Palsy, Familial Recurrent Peripheral	skos:exactMatch	MIM:134200	FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL	semapv:ManualMappingCuration	
DOID:9006544	Hypoglossia-Hypodactylia	skos:exactMatch	MIM:103300	HYPOGLOSSIA-HYPODACTYLIA	semapv:ManualMappingCuration	
DOID:9006551	Pseudohypoaldosteronism, Type IIB	skos:exactMatch	MIM:614491	Pseudohypoaldosteronism, type IIB	semapv:ManualMappingCuration	2014-10-20
DOID:9006556	Myeloproliferative Disease, Autosomal Recessive	skos:exactMatch	MIM:254700	MYELOPROLIFERATIVE DISEASE, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	2022-11-29
DOID:9006560	Urofacial Syndrome 1	skos:exactMatch	MIM:236730	Urofacial syndrome 1	semapv:ManualMappingCuration	2017-11-08
DOID:9006563	Spondyloepimetaphyseal Dysplasia, Shohat Type	skos:exactMatch	MIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	semapv:ManualMappingCuration	2018-09-19
DOID:9006567	Methylmalonate Semialdehyde Dehydrogenase Deficiency	skos:exactMatch	MIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	semapv:ManualMappingCuration	2017-10-10
DOID:9006569	Osteolysis Hereditary Multicentric	skos:exactMatch	MIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	semapv:ManualMappingCuration	2017-10-03
DOID:9006571	Epidermodysplasia Verruciformis 3	skos:exactMatch	MIM:618267	{Epidermodysplasia verruciformis, susceptibility to, 3}	semapv:ManualMappingCuration	2019-02-12
DOID:9006572	primary pulmonary hypertension 4	skos:exactMatch	MIM:615344	Pulmonary hypertension, primary, 4	semapv:ManualMappingCuration	2015-07-07
DOID:9006573	Familial Recurrent Dislocation of Patella	skos:exactMatch	MIM:169000	PATELLA, FAMILIAL RECURRENT DISLOCATION OF	semapv:ManualMappingCuration	
DOID:9006574	NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:620270	Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities	semapv:ManualMappingCuration	2023-05-02
DOID:9006576	Generalized Thyroid Hormone Resistance, Autosomal Recessive	skos:exactMatch	MIM:274300	Thyroid hormone resistance, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:9006577	Johnson Neuroectodermal Syndrome	skos:exactMatch	MIM:147770	JOHNSON NEUROECTODERMAL SYNDROME	semapv:ManualMappingCuration	2022-11-14
DOID:9006578	Thumb Agenesis, Short Stature, and Immunodeficiency	skos:exactMatch	MIM:274190	THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY	semapv:ManualMappingCuration	
DOID:9006579	Auriculocondylar Syndrome 4	skos:exactMatch	MIM:620457	?Auriculocondylar syndrome 4	semapv:ManualMappingCuration	2023-07-28
DOID:9006581	Glycogen Storage Disease 0, Liver	skos:exactMatch	MIM:240600	Glycogen storage disease 0, liver	semapv:ManualMappingCuration	2017-10-03
DOID:9006582	Oculoskeletodental Syndrome	skos:exactMatch	MIM:618440	Oculoskeletodental syndrome	semapv:ManualMappingCuration	2019-06-25
DOID:9006586	Neonatal Inflammatory Skin and Bowel Disease 2	skos:exactMatch	MIM:616069	Neonatal nephrocutaneous inflammatory syndrome	semapv:ManualMappingCuration	2017-04-28
DOID:9006587	Gingival Fibromatosis 3	skos:exactMatch	MIM:609955	Fibromatosis, gingival, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9006590	Chondrocalcinosis 2	skos:exactMatch	MIM:118600	Chondrocalcinosis 2	semapv:ManualMappingCuration	2017-10-03
DOID:9006594	Cysteine Peptiduria	skos:exactMatch	MIM:219550	CYSTEINE PEPTIDURIA	semapv:ManualMappingCuration	
DOID:9006596	Cayler Cardiofacial Syndrome	skos:exactMatch	MIM:125520	Cayler cardiofacial syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9006598	Three M Syndrome 2	skos:exactMatch	MIM:612921	3-M syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:9006600	Calvarial Hyperostosis	skos:exactMatch	MIM:302030	CALVARIAL HYPEROSTOSIS	semapv:ManualMappingCuration	
DOID:9006601	Wilms Tumor 4	skos:exactMatch	MIM:601363	Wilms tumor, type 4	semapv:ManualMappingCuration	2017-10-03
DOID:9006602	Distal Myopathy 5	skos:exactMatch	MIM:617030	Myopathy, distal, 5	semapv:ManualMappingCuration	2017-03-28
DOID:9006603	Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies	skos:exactMatch	MIM:PS615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	semapv:ManualMappingCuration	2019-03-19
DOID:9006605	Familial Erythema Nodosum	skos:exactMatch	MIM:132990	ERYTHEMA NODOSUM, FAMILIAL	semapv:ManualMappingCuration	
DOID:9006607	Hemifacial Spasm	skos:exactMatch	MIM:134300	FACIAL SPASM	semapv:ManualMappingCuration	2022-11-28
DOID:9006609	Trypsinogen Deficiency	skos:exactMatch	MIM:614044	TRYPSINOGEN DEFICIENCY	semapv:ManualMappingCuration	2014-09-02
DOID:9006611	Aquagenic Urticaria	skos:exactMatch	MIM:191850	URTICARIA, AQUAGENIC	semapv:ManualMappingCuration	
DOID:9006612	Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism	skos:exactMatch	MIM:614501	Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures	semapv:ManualMappingCuration	2014-09-09
DOID:9006615	HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2	skos:exactMatch	MIM:618314	Hypomagnesemia, seizures, and impaired intellectual development 2	semapv:ManualMappingCuration	
DOID:9006616	Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies	skos:exactMatch	MIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	semapv:ManualMappingCuration	2014-09-09
DOID:9006619	Epidermolysis Bullosa Dystrophica Neurotrophica	skos:exactMatch	MIM:226500	EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA	semapv:ManualMappingCuration	2017-10-03
DOID:9006620	Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome	skos:exactMatch	MIM:618878	?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	semapv:ManualMappingCuration	2020-07-10
DOID:9006624	EVEN-PLUS SYNDROME	skos:exactMatch	MIM:616854	Even-plus syndrome	semapv:ManualMappingCuration	2016-04-13
DOID:9006626	Parkinson's Disease 5	skos:exactMatch	MIM:613643	{?Parkinson disease 5, susceptibility to}	semapv:ManualMappingCuration	2020-07-13
DOID:9006627	Cortical Blindness, Retardation, and Postaxial Polydactyly	skos:exactMatch	MIM:218010	CORTICAL BLINDNESS, RETARDATION, AND POSTAXIAL POLYDACTYLY	semapv:ManualMappingCuration	
DOID:9006628	Cleidocranial Dysplasia 2	skos:exactMatch	MIM:620099	Cleidocranial dysplasia 2	semapv:ManualMappingCuration	2022-10-27
DOID:9006629	Granddad Syndrome	skos:exactMatch	MIM:138920	GRANDDAD SYNDROME	semapv:ManualMappingCuration	
DOID:9006630	Stargardt Disease 1	skos:exactMatch	MIM:248200	Retinal dystrophy, early-onset severe	semapv:ManualMappingCuration	2017-10-03
DOID:9006631	Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain	skos:exactMatch	MIM:260970	PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN	semapv:ManualMappingCuration	
DOID:9006632	Keratoconus Posticus Circumscriptus	skos:exactMatch	MIM:244600	KERATOCONUS POSTICUS CIRCUMSCRIPTUS	semapv:ManualMappingCuration	
DOID:9006635	Hyponatremia	skos:exactMatch	MIM:613508	[Sodium serum level QTL 1]	semapv:ManualMappingCuration	2018-09-28
DOID:9006637	Schizencephaly	skos:exactMatch	MIM:269160	Schizencephaly	semapv:ManualMappingCuration	2019-03-22
DOID:9006643	Pseudofolliculitis Barbae	skos:exactMatch	MIM:612318	{Pseudofolliculitis barbae, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9006648	Hernandez Fragoso Syndrome	skos:exactMatch	MIM:601220	OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME	semapv:ManualMappingCuration	
DOID:9006650	Anisocoria	skos:exactMatch	MIM:106240	ANISOCORIA	semapv:ManualMappingCuration	2022-11-08
DOID:9006652	Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	skos:exactMatch	MIM:618728	Spondyloepimetaphyseal dysplasia, Isidor-Toutain type	semapv:ManualMappingCuration	2020-01-07
DOID:9006654	Familial Thoracic Aortic Aneurysm 9	skos:exactMatch	MIM:616166	Aortic aneurysm, familial thoracic 9	semapv:ManualMappingCuration	2017-10-10
DOID:9006656	Familial Hypokalemia	skos:exactMatch	MIM:241150	HYPOKALEMIC ALKALOSIS, FAMILIAL, WITH SPECIFIC RENAL TUBULOPATHY	semapv:ManualMappingCuration	
DOID:9006660	Tessadori-van Haaften Neurodevelopmental Syndrome 2	skos:exactMatch	MIM:619759	?Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 2	semapv:ManualMappingCuration	2022-03-29
DOID:9006661	Phagocytosis, Plasma-Related Defect in	skos:exactMatch	MIM:171100	PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN	semapv:ManualMappingCuration	
DOID:9006663	Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism	skos:exactMatch	MIM:601450	DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM	semapv:ManualMappingCuration	2017-10-03
DOID:9006664	Spastic Paraplegia 92, Autosomal Recessive	skos:exactMatch	MIM:620911	Spastic paraplegia 92, autosomal recessive	semapv:ManualMappingCuration	2024-08-19
DOID:9006667	Dysosteosclerosis	skos:exactMatch	MIM:224300	DYSOSTEOSCLEROSIS	semapv:ManualMappingCuration	2022-11-29
DOID:9006669	Thrombocytopenia 9	skos:exactMatch	MIM:620478	Thrombocytopenia 9	semapv:ManualMappingCuration	2023-09-01
DOID:9006670	Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers	skos:exactMatch	MIM:601170	MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS	semapv:ManualMappingCuration	
DOID:9006671	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET	skos:exactMatch	MIM:619352	Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	semapv:ManualMappingCuration	2021-08-10
DOID:9006674	MHC CLASS II DEFICIENCY 4	skos:exactMatch	MIM:620817	MHC class II deficiency 4	semapv:ManualMappingCuration	2024-06-14
DOID:9006675	Hyperparathyroidism 1	skos:exactMatch	MIM:145000	Hyperparathyroidism, familial primary	semapv:ManualMappingCuration	2017-10-03
DOID:9006677	Salcedo Syndrome	skos:exactMatch	MIM:256020	Focal segmental glomerulosclerosis 10	semapv:ManualMappingCuration	
DOID:9006679	Peripheral Cone Dystrophy	skos:exactMatch	MIM:609021	PERIPHERAL CONE DYSTROPHY	semapv:ManualMappingCuration	
DOID:9006681	Multiple mitochondrial dysfunctions syndrome 10	skos:exactMatch	MIM:620960	Multiple mitochondrial dysfunctions syndrome 10	semapv:ManualMappingCuration	2024-10-03
DOID:9006683	Congenital Adrenal Hyperplasia, Type 5	skos:exactMatch	MIM:202110	17-alpha-hydroxylase/17,20-lyase deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9006685	Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 	skos:exactMatch	MIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	semapv:ManualMappingCuration	2017-05-09
DOID:9006686	Rajab Interstitial Lung Disease with Brain Calcifications 1	skos:exactMatch	MIM:613658	Rajab interstitial lung disease with brain calcifications 1	semapv:ManualMappingCuration	2014-06-23
DOID:9006687	Annular Erythema	skos:exactMatch	MIM:106500	ANNULAR ERYTHEMA	semapv:ManualMappingCuration	
DOID:9006689	Neural Tube Defects X-Linked	skos:exactMatch	MIM:301410	NEURAL TUBE DEFECTS, X-LINKED	semapv:ManualMappingCuration	2018-08-22
DOID:9006690	Vitelliform Macular Dystrophy 5	skos:exactMatch	MIM:616152	Macular dystrophy, vitelliform, 5	semapv:ManualMappingCuration	2017-05-04
DOID:9006692	Hutterite Cerebroosteonephrodysplasia Syndrome	skos:exactMatch	MIM:236450	HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME	semapv:ManualMappingCuration	
DOID:9006693	ALAD-Deficiency Porphyria	skos:exactMatch	MIM:612740	Porphyria, acute hepatic	semapv:ManualMappingCuration	2017-10-03
DOID:9006695	Orbital Margin, Hypoplasia of	skos:exactMatch	MIM:165600	ORBITAL MARGIN, HYPOPLASIA OF	semapv:ManualMappingCuration	
DOID:9006696	Spastic Paraplegia with Myoclonic Epilepsy	skos:exactMatch	MIM:270805	SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY	semapv:ManualMappingCuration	
DOID:9006700	APOLIPOPROTEIN A-II DEFICIENCY	skos:exactMatch	MIM:107670	Apolipoprotein A-II deficiency	semapv:ManualMappingCuration	2017-01-11
DOID:9006705	Immunodeficiency 95	skos:exactMatch	MIM:619773	Immunodeficiency 95	semapv:ManualMappingCuration	2022-03-08
DOID:9006706	Rasmussen Johnsen Thomsen Syndrome	skos:exactMatch	MIM:133705	EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS	semapv:ManualMappingCuration	2022-11-29
DOID:9006707	Hypomandibular Faciocranial Dysostosis	skos:exactMatch	MIM:241310	HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS	semapv:ManualMappingCuration	
DOID:9006708	PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE	skos:exactMatch	MIM:620126	Pseudohypoaldosteronism, type IB3, autosomal recessive	semapv:ManualMappingCuration	2023-03-02
DOID:9006711	Epidermolysis Bullosa Pruriginosa	skos:exactMatch	MIM:604129	Epidermolysis bullosa pruriginosa	semapv:ManualMappingCuration	2017-10-03
DOID:9006712	ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES	skos:exactMatch	MIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies	semapv:ManualMappingCuration	2019-09-13
DOID:9006713	Spinocerebellar Ataxia 27B	skos:exactMatch	MIM:620174	Spinocerebellar ataxia 27B, late-onset	semapv:ManualMappingCuration	2023-01-04
DOID:9006714	Crumpled Helices and Small Mouth	skos:exactMatch	MIM:605945	CRUMPLED HELICES AND SMALL MOUTH	semapv:ManualMappingCuration	
DOID:9006716	Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity	skos:exactMatch	MIM:618730	Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	semapv:ManualMappingCuration	2020-02-14
DOID:9006718	Banki Syndrome	skos:exactMatch	MIM:109300	BANKI SYNDROME	semapv:ManualMappingCuration	2022-11-14
DOID:9006719	Bethlem Myopathy 1B	skos:exactMatch	MIM:620725	Bethlem myopathy 1B	semapv:ManualMappingCuration	2024-03-18
DOID:9006720	CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY	skos:exactMatch	MIM:620470	Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic	semapv:ManualMappingCuration	2023-09-12
DOID:9006721	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME	skos:exactMatch	MIM:618820	Genitourinary and/or/brain malformation syndrome	semapv:ManualMappingCuration	2020-07-13
DOID:9006724	Phlebectasia of Lips	skos:exactMatch	MIM:171450	PHLEBECTASIA OF LIPS	semapv:ManualMappingCuration	
DOID:9006725	Glucocorticoid Deficiency 2	skos:exactMatch	MIM:607398	Glucocorticoid deficiency 2	semapv:ManualMappingCuration	2017-10-03
DOID:9006729	Congenital Disorder of Glycosylation Type IIbb	skos:exactMatch	MIM:620546	Congenital disorder of glycosylation, type IIbb	semapv:ManualMappingCuration	2023-10-24
DOID:9006734	Dowling-Degos Disease 1	skos:exactMatch	MIM:179850	Dowling-Degos disease 1	semapv:ManualMappingCuration	2017-10-03
DOID:9006736	Gingival Fibromatosis with Hypertrichosis and Mental Retardation	skos:exactMatch	MIM:605400	FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9006740	Nathalie Syndrome	skos:exactMatch	MIM:255990	NATHALIE SYNDROME	semapv:ManualMappingCuration	2022-08-15
DOID:9006744	Familial Lichen Planus	skos:exactMatch	MIM:151620	LICHEN PLANUS, FAMILIAL	semapv:ManualMappingCuration	
DOID:9006746	Familial Cryptotia	skos:exactMatch	MIM:123557	CRYPTOTIA, FAMILIAL	semapv:ManualMappingCuration	
DOID:9006749	Renal Cell Carcinoma, Xp11-Associated	skos:exactMatch	MIM:300854	Renal cell carcinoma, papillary, 1	semapv:ManualMappingCuration	2014-09-09
DOID:9006750	Familial Thoracic Aortic Aneurysm 7	skos:exactMatch	MIM:613780	Aortic aneurysm, familial thoracic 7	semapv:ManualMappingCuration	2014-09-02
DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal	skos:exactMatch	MIM:248770	MARFANOID IMPAIRED INTELLECTUAL DEVELOPMENTAL SYNDROME, AUTOSOMAL	semapv:ManualMappingCuration	
DOID:9006755	LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME	skos:exactMatch	MIM:308940	LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:9006757	Pachydermodactyly, Familial	skos:exactMatch	MIM:600356	PACHYDERMODACTYLY, FAMILIAL	semapv:ManualMappingCuration	
DOID:9006758	Osteomas of Mandible	skos:exactMatch	MIM:166400	OSTEOMAS OF MANDIBLE	semapv:ManualMappingCuration	2022-11-29
DOID:9006759	Non Opposable Triphalangeal Thumb	skos:exactMatch	MIM:190600	TRIPHALANGEAL THUMB, NONOPPOSABLE	semapv:ManualMappingCuration	
DOID:9006760	Testicular Anomalies with or without Congenital Heart Disease	skos:exactMatch	MIM:615542	?Testicular anomalies with or without congenital heart disease	semapv:ManualMappingCuration	2014-09-09
DOID:9006761	Prostate Cancer, Hereditary, 5	skos:exactMatch	MIM:609299	{Prostate cancer, hereditary, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:9006763	Stickler Syndrome, Type I, Nonsyndromic Ocular	skos:exactMatch	MIM:609508	Stickler syndrome, type I, nonsyndromic ocular	semapv:ManualMappingCuration	2017-10-03
DOID:9006766	Palant Cleft Palate Syndrome	skos:exactMatch	MIM:260150	PALANT CLEFT PALATE SYNDROME	semapv:ManualMappingCuration	
DOID:9006768	Beaulieu-Boycott-Innes Syndrome	skos:exactMatch	MIM:613680	Beaulieu-Boycott-Innes syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:9006769	Presentey Anomaly	skos:exactMatch	MIM:261500	[Eosinophil peroxidase deficiency]	semapv:ManualMappingCuration	2014-10-20
DOID:9006777	Neonatal Intractable Myoclonus	skos:exactMatch	MIM:617235	Myoclonus, intractable, neonatal	semapv:ManualMappingCuration	2017-03-27
DOID:9006780	Genito Palato Cardiac Syndrome	skos:exactMatch	MIM:231060	GENITOPALATOCARDIAC SYNDROME	semapv:ManualMappingCuration	
DOID:9006782	Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1	skos:exactMatch	MIM:619115	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	semapv:ManualMappingCuration	2020-12-11
DOID:9006783	Young Syndrome	skos:exactMatch	MIM:279000	YOUNG SYNDROME	semapv:ManualMappingCuration	
DOID:9006788	Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis	skos:exactMatch	MIM:612862	{Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to}	semapv:ManualMappingCuration	2014-06-23
DOID:9006791	Hypogonadotropic Hypogonadism 27 without Anosmia	skos:exactMatch	MIM:619755	?Hypogonadotropic hypogonadism 27 without anosmia	semapv:ManualMappingCuration	2022-02-21
DOID:9006793	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME	skos:exactMatch	MIM:618891	Microcephaly, developmental delay, and brittle hair syndrome	semapv:ManualMappingCuration	2020-08-03
DOID:9006794	Prostate Cancer, Hereditary, 15	skos:exactMatch	MIM:611959	{Prostate cancer, hereditary, 15}	semapv:ManualMappingCuration	2017-10-03
DOID:9006798	Pechet Factor Deficiency	skos:exactMatch	MIM:169200	PECHET FACTOR DEFICIENCY	semapv:ManualMappingCuration	2022-11-21
DOID:9006799	CHOPS Syndrome	skos:exactMatch	MIM:616368	CHOPS syndrome	semapv:ManualMappingCuration	2017-02-27
DOID:9006801	Elejalde Disease	skos:exactMatch	MIM:256710	ELEJALDE NEUROECTODERMAL MELANOLYSOSOMAL SYNDROME	semapv:ManualMappingCuration	
DOID:9006804	CD8 Deficiency, Familial	skos:exactMatch	MIM:608957	Immunodeficiency 116	semapv:ManualMappingCuration	2017-10-03
DOID:9006806	Pseudo-TORCH Syndrome 3	skos:exactMatch	MIM:618886	Pseudo-TORCH syndrome 3	semapv:ManualMappingCuration	2020-05-27
DOID:9006809	Specific Granule Deficiency 2	skos:exactMatch	MIM:617475	Specific granule deficiency 2	semapv:ManualMappingCuration	2019-03-26
DOID:9006811	Congenital Alacrima	skos:exactMatch	MIM:103420	ALACRIMA, CONGENITAL, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	
DOID:9006811	Congenital Alacrima	skos:exactMatch	MIM:601549	ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	2021-03-03
DOID:9006812	Transient Neonatal Cyanosis	skos:exactMatch	MIM:613977	Cyanosis, transient neonatal	semapv:ManualMappingCuration	2014-09-09
DOID:9006817	Hamamy Syndrome	skos:exactMatch	MIM:611174	Hamamy syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9006818	Oocyte/Zygote/Embryo Maturation Arrest 15	skos:exactMatch	MIM:616814	Oocyte/zygote/embryo maturation arrest 15	semapv:ManualMappingCuration	2017-03-30
DOID:9006819	Anonychia with Flexural Pigmentation	skos:exactMatch	MIM:106750	ANONYCHIA WITH FLEXURAL PIGMENTATION	semapv:ManualMappingCuration	
DOID:9006821	Skraban-Deardorff Syndrome	skos:exactMatch	MIM:617616	Skraban-Deardorff syndrome	semapv:ManualMappingCuration	2017-12-07
DOID:9006822	Blue Nevi, Familial Multiple	skos:exactMatch	MIM:603670	BLUE NEVI, FAMILIAL MULTIPLE	semapv:ManualMappingCuration	
DOID:9006824	46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy	skos:exactMatch	MIM:607080	46XY gonadal dysgenesis with minifascicular neuropathy	semapv:ManualMappingCuration	2017-10-03
DOID:9006825	Imerslund-Grasbeck Syndrome	skos:exactMatch	MIM:PS261100	Imerslund-Grasbeck syndrome 1	semapv:ManualMappingCuration	2020-07-28
DOID:9006829	Multiple Fibroadenomas of the Breast	skos:exactMatch	MIM:615554	Multiple fibroadenomas of the breast	semapv:ManualMappingCuration	2014-09-09
DOID:9006833	Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis	skos:exactMatch	MIM:204730	AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS	semapv:ManualMappingCuration	2018-03-06
DOID:9006837	Myeloid Tumor Suppressor	skos:exactMatch	MIM:601308	MYELOID TUMOR SUPPRESSOR	semapv:ManualMappingCuration	2014-06-23
DOID:9006841	Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia	skos:exactMatch	MIM:604690	GROWTH AND DEVELOPMENTAL RETARDATION, OCULAR PTOSIS, CARDIAC DEFECT, AND ANAL ATRESIA	semapv:ManualMappingCuration	2017-05-30
DOID:9006843	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4	skos:exactMatch	MIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	semapv:ManualMappingCuration	2019-09-10
DOID:9006845	Striatal Degeneration, Autosomal Dominant	skos:exactMatch	MIM:PS609161	Striatal degeneration, autosomal dominant	semapv:ManualMappingCuration	2019-03-15
DOID:9006850	Chromosome Xp11.3 Deletion Syndrome	skos:exactMatch	MIM:300578	Chromosome Xp11.3 deletion syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9006851	NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:620747	Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities	semapv:ManualMappingCuration	2024-05-24
DOID:9006853	Skin/Hair/Eye Pigmentation, Variation In, 8	skos:exactMatch	MIM:611724	[Skin/hair/eye pigmentation, variation in, 8]	semapv:ManualMappingCuration	2022-12-12
DOID:9006856	Glutamate Monosodium Sensitivity	skos:exactMatch	MIM:231630	MONOSODIUM GLUTAMATE SENSITIVITY	semapv:ManualMappingCuration	
DOID:9006857	Bartsocas-Papas Syndrome 2	skos:exactMatch	MIM:619339	?Popliteal pterygium syndrome, Bartsocas-Papas type 2	semapv:ManualMappingCuration	2021-05-27
DOID:9006860	Lipedema	skos:exactMatch	MIM:614103	LIPEDEMA	semapv:ManualMappingCuration	
DOID:9006866	THROMBOCYTOPENIA 13	skos:exactMatch	MIM:620776	Thrombocytopenia 13, syndromic	semapv:ManualMappingCuration	2024-06-04
DOID:9006867	Accessory Navicular Bone	skos:exactMatch	MIM:161600	NAVICULAR BONE, ACCESSORY	semapv:ManualMappingCuration	
DOID:9006871	BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME	skos:exactMatch	MIM:620186	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome	semapv:ManualMappingCuration	2023-04-13
DOID:9006873	Odd Shapes of Teeth	skos:exactMatch	MIM:187000	TEETH, ODD SHAPES OF	semapv:ManualMappingCuration	2022-10-31
DOID:9006874	Retinal Aplasia	skos:exactMatch	MIM:179900	RETINAL APLASIA	semapv:ManualMappingCuration	
DOID:9006876	Autoinflammation, Immune Dysregulation, and Eosinophilia	skos:exactMatch	MIM:618999	Autoinflammation, immune dysregulation, and eosinophilia	semapv:ManualMappingCuration	2020-09-02
DOID:9006877	Insulin-Like Growth Factor I Deficiency	skos:exactMatch	MIM:608747	Insulin-like growth factor I deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9006878	Exercise Intolerance	skos:exactMatch	MIM:616839	?Exercise intolerance, riboflavin-responsive	semapv:ManualMappingCuration	2016-04-13
DOID:9006879	Primary Hyperparathyroidism, caused by Water Clear Cell Hyperplasia	skos:exactMatch	MIM:600166	HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA	semapv:ManualMappingCuration	2018-08-21
DOID:9006881	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA	skos:exactMatch	MIM:618808	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	semapv:ManualMappingCuration	2020-07-21
DOID:9006882	Progesterone Resistance	skos:exactMatch	MIM:264080	?Progesterone resistance	semapv:ManualMappingCuration	2014-10-20
DOID:9006884	Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts	skos:exactMatch	MIM:225740	ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS	semapv:ManualMappingCuration	
DOID:9006891	Schimke X-Linked Mental Retardation Syndrome	skos:exactMatch	MIM:312840	SCHIMKE SYNDROME	semapv:ManualMappingCuration	
DOID:9006892	Dyschromatosis Universalis Hereditaria 3	skos:exactMatch	MIM:615402	Dyschromatosis universalis hereditaria 3	semapv:ManualMappingCuration	2014-09-09
DOID:9006897	Atelosteogenesis Type 2	skos:exactMatch	MIM:256050	De la Chapelle dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:9006899	North American Indian Childhood Cirrhosis	skos:exactMatch	MIM:604901	North American Indian childhood cirrhosis	semapv:ManualMappingCuration	2017-10-03
DOID:9006900	Inosine Phosphorylase Deficiency, Immune Defect Due To	skos:exactMatch	MIM:243080	INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO	semapv:ManualMappingCuration	
DOID:9006901	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy	skos:exactMatch	MIM:PS617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	semapv:ManualMappingCuration	2019-03-20
DOID:9006902	Frenkel Russe Syndrome	skos:exactMatch	MIM:267900	RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA	semapv:ManualMappingCuration	
DOID:9006906	Bilateral Choroidal Osteoma	skos:exactMatch	MIM:118865	CHOROIDAL OSTEOMA, BILATERAL	semapv:ManualMappingCuration	
DOID:9006907	Glaucoma 1, Open Angle, J	skos:exactMatch	MIM:608695	Glaucoma, primary open angle, juvenile-onset, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9006909	Porokeratosis, Disseminated Superficial Actinic, 8	skos:exactMatch	MIM:616063	Porokeratosis 8, disseminated superficial actinic type	semapv:ManualMappingCuration	2017-03-30
DOID:9006910	Red Cell Phospholipid Defect with Hemolysis	skos:exactMatch	MIM:179700	RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS	semapv:ManualMappingCuration	
DOID:9006911	Congenital Heart Defects, Multiple Types, 3	skos:exactMatch	MIM:614954	Congenital heart defects, multiple types, 3	semapv:ManualMappingCuration	2020-07-22
DOID:9006912	Acute Alcohol Sensitivity	skos:exactMatch	MIM:610251	Alcohol sensitivity, acute	semapv:ManualMappingCuration	2014-06-23
DOID:9006913	Short Sleep	skos:exactMatch	MIM:PS612975	[Short sleep, familial natural, 1]	semapv:ManualMappingCuration	2019-12-19
DOID:9006914	Defect in Hyaluronan Metabolism	skos:exactMatch	MIM:604855	HYALURONAN METABOLISM, DEFECT IN	semapv:ManualMappingCuration	
DOID:9006921	CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA	skos:exactMatch	MIM:616819	?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	semapv:ManualMappingCuration	2016-03-10
DOID:9006927	Thyrotoxic Periodic Paralysis	skos:exactMatch	MIM:188580	{Thyrotoxic periodic paralysis, susceptibility to, 1}	semapv:ManualMappingCuration	2014-06-23
DOID:9006927	Thyrotoxic Periodic Paralysis	skos:exactMatch	MIM:613239	{Thyrotoxic periodic paralysis, susceptibility to, 2}	semapv:ManualMappingCuration	2014-06-23
DOID:9006927	Thyrotoxic Periodic Paralysis	skos:exactMatch	MIM:614834	{Thyrotoxic periodic paralysis, susceptibility to, 3}	semapv:ManualMappingCuration	2019-03-19
DOID:9006927	Thyrotoxic Periodic Paralysis	skos:exactMatch	MIM:PS188580	{Thyrotoxic periodic paralysis, susceptibility to, 1}	semapv:ManualMappingCuration	2019-03-19
DOID:9006931	Humeroradial Synostosis with Craniofacial Anomalies	skos:exactMatch	MIM:236410	HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES	semapv:ManualMappingCuration	
DOID:9006933	Mucopolysaccharidosis-Plus Syndrome	skos:exactMatch	MIM:617303	Mucopolysaccharidosis-plus syndrome	semapv:ManualMappingCuration	2017-03-10
DOID:9006934	Digital Arthropathy-Brachydactyly, Familial	skos:exactMatch	MIM:606835	Digital arthropathy-brachydactyly, familial	semapv:ManualMappingCuration	2014-10-20
DOID:9006935	Annular Epidermolytic Ichthyosis 2	skos:exactMatch	MIM:620148	Ichthyosis, annular epidermolytic 2	semapv:ManualMappingCuration	2022-12-06
DOID:9006938	Ptosis, Strabismus, and Ectopic Pupils	skos:exactMatch	MIM:178330	PTOSIS, STRABISMUS, AND ECTOPIC PUPILS	semapv:ManualMappingCuration	2022-12-06
DOID:9006943	GARG-MISHRA PROGEROID SYNDROME	skos:exactMatch	MIM:620601	Garg-Mishra progeroid syndrome	semapv:ManualMappingCuration	2024-01-29
DOID:9006946	Nonimmune Chronic Idiopathic Neutropenia, Adult	skos:exactMatch	MIM:607847	?Neutropenia, nonimmune chronic idiopathic, of adults	semapv:ManualMappingCuration	2017-10-03
DOID:9006949	Martsolf Syndrome	skos:exactMatch	MIM:PS212720	Martsolf syndrome 1	semapv:ManualMappingCuration	2023-02-10
DOID:9006951	Autosomal Dominant Intellectual Developmental Disorder 70	skos:exactMatch	MIM:620157	Intellectual developmental disorder, autosomal dominant 70	semapv:ManualMappingCuration	2022-12-16
DOID:9006955	Hypertrophic Neuropathy and Cataract	skos:exactMatch	MIM:239900	HYPERTROPHIC NEUROPATHY AND CATARACT	semapv:ManualMappingCuration	
DOID:9006957	Lymphatic Malformation 8	skos:exactMatch	MIM:618773	?Lymphatic malformation 8	semapv:ManualMappingCuration	2020-02-13
DOID:9006958	Generalized Arterial Calcification of Infancy, 1	skos:exactMatch	MIM:208000	Arterial calcification, generalized, of infancy, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9006959	Congenital Dyserythropoiesis with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin	skos:exactMatch	MIM:603529	DYSERYTHROPOIESIS, CONGENITAL, WITH ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN	semapv:ManualMappingCuration	
DOID:9006962	Takenouchi-Kosaki Syndrome	skos:exactMatch	MIM:616737	Takenouchi-Kosaki syndrome	semapv:ManualMappingCuration	2016-02-11
DOID:9006963	Pseudohypoaldosteronism Type IB1, Autosomal Recessive	skos:exactMatch	MIM:264350	Pseudohypoaldosteronism, type IB1, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:9006967	Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia	skos:exactMatch	MIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	semapv:ManualMappingCuration	2017-10-03
DOID:9006968	Pleoconial Myopathy with Salt Craving	skos:exactMatch	MIM:262900	PLEOCONIAL MYOPATHY WITH SALT CRAVING	semapv:ManualMappingCuration	
DOID:9006971	Thyroid Carcinoma, Nonmedullary 1	skos:exactMatch	MIM:188550	{Thyroid cancer, nonmedullary, 1}	semapv:ManualMappingCuration	2016-03-24
DOID:9006971	Thyroid Carcinoma, Nonmedullary 1	skos:exactMatch	MIM:606240	{Thyroid carcinoma, nonmedullary, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:9006975	Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa	skos:exactMatch	MIM:609047	SKELETAL DYSPLASIA, RHIZOMELIC, WITH RETINITIS PIGMENTOSA	semapv:ManualMappingCuration	
DOID:9006978	Brachydactyly, Type A2, With Microcephaly	skos:exactMatch	MIM:211369	BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY	semapv:ManualMappingCuration	
DOID:9006981	Oocyte/Zygote/Embryo Maturation Arrest 21	skos:exactMatch	MIM:620610	Oocyte/zygote/embryo maturation arrest 21	semapv:ManualMappingCuration	2023-12-04
DOID:9006985	Juvenile-Onset Dystonia	skos:exactMatch	MIM:607371	Dystonia-deafness syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9006987	Fitzsimmons-McLachlan-Gilbert syndrome	skos:exactMatch	MIM:309560	IMPAIRED INTELLECTUAL DEVELOPMENT WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS	semapv:ManualMappingCuration	2022-12-06
DOID:9006989	Osebold Skeletal Dysplasia Osteolysis Syndrome	skos:exactMatch	MIM:603389	OSEBOLD SKELETAL DYSPLASIA/OSTEOLYSIS SYNDROME	semapv:ManualMappingCuration	
DOID:9006990	Deafness-Oligodontia Syndrome	skos:exactMatch	MIM:221740	DEAFNESS-OLIGODONTIA SYNDROME	semapv:ManualMappingCuration	2022-11-28
DOID:9006991	Pelvic Lipomatosis with Crossed Renal Ectopia	skos:exactMatch	MIM:169545	PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA	semapv:ManualMappingCuration	2022-11-29
DOID:9006992	MORM Syndrome	skos:exactMatch	MIM:610156	Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9006994	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN	skos:exactMatch	MIM:617101	Dias-Logan syndrome	semapv:ManualMappingCuration	2017-04-28
DOID:9006995	Faciomandibular Myoclonus, Nocturnal	skos:exactMatch	MIM:606840	PARASOMNIA, SLEEP BRUXISM TYPE	semapv:ManualMappingCuration	2022-12-06
DOID:9006996	Retinitis Pigmentosa 79	skos:exactMatch	MIM:617460	Retinitis pigmentosa 79	semapv:ManualMappingCuration	2017-06-21
DOID:9006997	Dilated Cardiomyopathy 1OO	skos:exactMatch	MIM:620247	?Cardiomyopathy, dilated, 1OO	semapv:ManualMappingCuration	2023-02-16
DOID:9006998	Cystic Disease of Lung	skos:exactMatch	MIM:219600	Polycystic lung disease	semapv:ManualMappingCuration	
DOID:9006999	Synesthesia	skos:exactMatch	MIM:612759	Synesthesia	semapv:ManualMappingCuration	2017-10-03
DOID:9007	sudden infant death syndrome	skos:exactMatch	MIM:272120	{Sudden infant death syndrome, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9007000	Cleft Palate, Deafness, and Oligodontia	skos:exactMatch	MIM:216300	CLEFT PALATE, DEAFNESS, AND OLIGODONTIA	semapv:ManualMappingCuration	
DOID:9007002	Von Willebrand Disease, X-Linked Form	skos:exactMatch	MIM:314560	VON WILLEBRAND DISEASE, X-LINKED FORM	semapv:ManualMappingCuration	
DOID:9007005	Branchiogenic-Deafness Syndrome	skos:exactMatch	MIM:609166	BRANCHIOGENIC-DEAFNESS SYNDROME	semapv:ManualMappingCuration	
DOID:9007006	Maple Syrup Urine Disease, Type 1B	skos:exactMatch	MIM:620698	Maple syrup urine disease, type Ib	semapv:ManualMappingCuration	2024-02-12
DOID:9007008	Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation	skos:exactMatch	MIM:226440	EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9007011	Autosomal Recessive Nonsyndromic Deafness 123	skos:exactMatch	MIM:620745	?Deafness, autosomal recessive 123	semapv:ManualMappingCuration	2024-03-18
DOID:9007012	THAUVIN-ROBINET-FAIVRE SYNDROME	skos:exactMatch	MIM:617107	Thauvin-Robinet-Faivre syndrome	semapv:ManualMappingCuration	2017-04-19
DOID:9007015	Cleidorhizomelic Syndrome	skos:exactMatch	MIM:119650	CLEIDORHIZOMELIC SYNDROME	semapv:ManualMappingCuration	
DOID:9007016	Tetralogy of Fallot Syndrome, Autosomal Recessive	skos:exactMatch	MIM:605618	TETRALOGY OF FALLOT SYNDROME, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	
DOID:9007020	Mollica-Pavone-Antener Syndrome	skos:exactMatch	MIM:223540	MOLLICA SYNDROME	semapv:ManualMappingCuration	
DOID:9007022	Pfeiffer Palm Teller Syndrome	skos:exactMatch	MIM:261560	PFEIFFER-PALM-TELLER SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9007024	Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine	skos:exactMatch	MIM:162600	NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE	semapv:ManualMappingCuration	
DOID:9007026	DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY	skos:exactMatch	MIM:620540	Developmental delay with or without epilepsy	semapv:ManualMappingCuration	2024-09-16
DOID:9007027	Hyperlysinemia due to Defect in Lysine Transport into Mitochondria	skos:exactMatch	MIM:238710	HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA	semapv:ManualMappingCuration	2018-08-22
DOID:9007028	Episodic Muscle Weakness, X-Linked	skos:exactMatch	MIM:300211	Episodic muscle weakness, X-linked	semapv:ManualMappingCuration	2017-10-03
DOID:9007030	Endocardial Fibroelastosis and Coarctation of Abdominal Aorta	skos:exactMatch	MIM:226100	ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA	semapv:ManualMappingCuration	
DOID:9007042	syndromic X-linked intellectual disability 33	skos:exactMatch	MIM:300966	Intellectual developmental disorder, X-linked syndromic 33	semapv:ManualMappingCuration	2016-02-10
DOID:9007043	Dermatoleukodystrophy	skos:exactMatch	MIM:221790	DERMATOLEUKODYSTROPHY	semapv:ManualMappingCuration	
DOID:9007046	Cranioacrofacial Syndrome	skos:exactMatch	MIM:122850	CRANIOACROFACIAL SYNDROME	semapv:ManualMappingCuration	
DOID:9007048	Schmid-Fraccaro Syndrome	skos:exactMatch	MIM:115470	Cat eye syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9007049	Bone Marrow Failure Syndrome 2	skos:exactMatch	MIM:615715	Bone marrow failure syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:9007051	Autosomal Dominant Tubulointerstitial Kidney Disease 1	skos:exactMatch	MIM:162000	Tubulointerstitial kidney disease, autosomal dominant, 1	semapv:ManualMappingCuration	2014-06-23
DOID:9007052	Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay	skos:exactMatch	MIM:613076	Myopathy, mitochondrial progressive, with congenital cataract and developmental delay	semapv:ManualMappingCuration	2017-10-03
DOID:9007054	Ventricular Septal Defect 2	skos:exactMatch	MIM:614431	Ventricular septal defect 2	semapv:ManualMappingCuration	2014-09-02
DOID:9007055	Central Areolar Choroidal Dystrophy 3	skos:exactMatch	MIM:613144	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9007056	Congenital Disorder of Glycosylation Type IIy	skos:exactMatch	MIM:620200	?Congenital disorder of glycosylation, type IIy	semapv:ManualMappingCuration	2023-01-20
DOID:9007057	Subacute Necrotizing Encephalomyelopathy of Leigh, Adult	skos:exactMatch	MIM:161700	NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT	semapv:ManualMappingCuration	
DOID:9007059	Thyroid Hormone Plasma Membrane Transport Defect	skos:exactMatch	MIM:188560	THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT	semapv:ManualMappingCuration	2020-12-16
DOID:9007061	Glycosylphosphatidylinositol Biosynthesis Defect 1	skos:exactMatch	MIM:610293	Glycosylphosphatidylinositol deficiency	semapv:ManualMappingCuration	2023-05-30
DOID:9007063	Myoclonic Epilepsy, Familial Infantile	skos:exactMatch	MIM:605021	Myoclonic epilepsy, infantile, familial	semapv:ManualMappingCuration	2014-06-23
DOID:9007064	Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	skos:exactMatch	MIM:608728	Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type	semapv:ManualMappingCuration	2017-10-03
DOID:9007065	Myopia 11	skos:exactMatch	MIM:609994	Myopia 11	semapv:ManualMappingCuration	2017-10-03
DOID:9007068	Familial Partial Lipodystrophy Type 8	skos:exactMatch	MIM:620679	?Lipodystrophy, familial partial, type 8	semapv:ManualMappingCuration	2024-01-19
DOID:9007069	Hyperphosphatemic Familial Tumoral Calcinosis 2	skos:exactMatch	MIM:617993	Tumoral calcinosis, hyperphosphatemic, familial, 2	semapv:ManualMappingCuration	2019-05-02
DOID:9007070	Silver-Russell Syndrome 1	skos:exactMatch	MIM:180860	Silver-Russell syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9007074	Camptodactyly-Ichthyosis Syndrome	skos:exactMatch	MIM:211965	CAMPTODACTYLY-ICHTHYOSIS SYNDROME	semapv:ManualMappingCuration	2022-12-05
DOID:9007075	Congenital Prothrombin Deficiency	skos:exactMatch	MIM:613679	Dysprothrombinemia	semapv:ManualMappingCuration	2014-06-23
DOID:9007079	IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY	skos:exactMatch	MIM:614102	Kappa light chain deficiency	semapv:ManualMappingCuration	2017-10-09
DOID:9007080	Prostate Cancer, Hereditary, 6	skos:exactMatch	MIM:609558	{Prostate cancer, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9007082	Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	skos:exactMatch	MIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	semapv:ManualMappingCuration	2017-10-03
DOID:9007085	Monosomy 7 Myelodysplasia and Leukemia Syndrome 1	skos:exactMatch	MIM:252270	Monosomy 7 myelodysplasia and leukemia syndrome 1	semapv:ManualMappingCuration	
DOID:9007086	Myoclonic Nystagmus	skos:exactMatch	MIM:310800	NYSTAGMUS, MYOCLONIC	semapv:ManualMappingCuration	
DOID:9007087	Moyamoya Disease 6 with Achalasia	skos:exactMatch	MIM:615750	Moyamoya 6 with achalasia	semapv:ManualMappingCuration	2015-07-06
DOID:9007089	Lethal Bone Dysplasia, Holmgren Type	skos:exactMatch	MIM:211120	BONE DYSPLASIA, LETHAL, HOLMGREN TYPE	semapv:ManualMappingCuration	
DOID:9007093	Combined Defect of Growth Factors	skos:exactMatch	MIM:233805	GROWTH FACTORS, COMBINED DEFECT OF	semapv:ManualMappingCuration	
DOID:9007094	Hypercalcemia, Infantile, 1	skos:exactMatch	MIM:143880	Hypercalcemia, infantile, 1	semapv:ManualMappingCuration	2018-07-03
DOID:9007096	Stroke	skos:exactMatch	MIM:606799	{Stroke, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:9007097	Microcephaly with Simplified Gyral Pattern	skos:exactMatch	MIM:603802	MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN	semapv:ManualMappingCuration	
DOID:9007099	Aplasia Cutis Congenita of Limbs Recessive	skos:exactMatch	MIM:600360	APLASIA CUTIS CONGENITA OF LIMBS, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	2022-12-06
DOID:9007103	Osteolysis Syndrome, Recessive	skos:exactMatch	MIM:259610	OSTEOLYSIS SYNDROME, RECESSIVE	semapv:ManualMappingCuration	
DOID:9007104	Oocyte/Zygote/Embryo Maturation Arrest 14	skos:exactMatch	MIM:620276	Oocyte/zygote/embryo maturation arrest 14	semapv:ManualMappingCuration	2023-03-08
DOID:9007105	Hyperemesis Gravidarum	skos:exactMatch	MIM:620730	{Hyperemesis gravidarum, susceptibility to}	semapv:ManualMappingCuration	2024-03-18
DOID:9007106	Hereditary Neurocutaneous Angioma	skos:exactMatch	MIM:106070	ANGIOMA, HEREDITARY NEUROCUTANEOUS	semapv:ManualMappingCuration	2022-11-21
DOID:9007107	Cataract, Age-Related Nuclear	skos:exactMatch	MIM:601371	CATARACT, AGE-RELATED NUCLEAR	semapv:ManualMappingCuration	2018-08-21
DOID:9007115	Adult Acne	skos:exactMatch	MIM:604324	ACNE, ADULT	semapv:ManualMappingCuration	2018-08-22
DOID:9007118	Familial Hypercholanemia	skos:exactMatch	MIM:PS607748	Hypercholanemia, familial 1	semapv:ManualMappingCuration	2021-04-13
DOID:9007119	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6	skos:exactMatch	MIM:619767	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6	semapv:ManualMappingCuration	2022-03-07
DOID:9007120	Meckel Syndrome 11	skos:exactMatch	MIM:615397	Meckel syndrome 11	semapv:ManualMappingCuration	2014-09-09
DOID:9007123	Radiation Induced Meningioma	skos:exactMatch	MIM:606190	Meningioma, radiation-induced	semapv:ManualMappingCuration	2017-10-03
DOID:9007131	Polydactyly-Macrocephaly Syndrome	skos:exactMatch	MIM:620712	Polydactyly-macrocephaly syndrome	semapv:ManualMappingCuration	2024-02-12
DOID:9007135	Eosinophilic Fasciitis	skos:exactMatch	MIM:226350	EOSINOPHILIC FASCIITIS	semapv:ManualMappingCuration	2021-02-18
DOID:9007137	Hepatic Lipase Deficiency	skos:exactMatch	MIM:614025	Hepatic lipase deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:9007140	Spinal Muscular Atrophy with Congenital Bone Fractures 1	skos:exactMatch	MIM:616866	Spinal muscular atrophy with congenital bone fractures 1	semapv:ManualMappingCuration	2016-04-15
DOID:9007141	Normokalemic Periodic Paralysis, Potassium-Sensitive	skos:exactMatch	MIM:170600	NORMOKALEMIC PERIODIC PARALYSIS	semapv:ManualMappingCuration	
DOID:9007146	Hypouricemia, Hypercalcinuria, and Decreased Bone Density	skos:exactMatch	MIM:242050	HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY	semapv:ManualMappingCuration	
DOID:9007147	Glaucoma 3, Primary Infantile, B	skos:exactMatch	MIM:600975	Glaucoma 3, primary infantile, B	semapv:ManualMappingCuration	2017-10-03
DOID:9007151	Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis	skos:exactMatch	MIM:612852	Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis	semapv:ManualMappingCuration	2014-06-23
DOID:9007154	Choanal Atresia and Lymphedema	skos:exactMatch	MIM:613611	Choanal atresia and lymphedema	semapv:ManualMappingCuration	2014-06-23
DOID:9007155	Oocyte/Zygote/Embryo Maturation Arrest 8	skos:exactMatch	MIM:619009	Oocyte/zygote/embryo maturation arrest 8	semapv:ManualMappingCuration	2020-09-05
DOID:9007157	Hydrocephalus, Autosomal Dominant	skos:exactMatch	MIM:123155	?Hydrocephalus, autosomal dominant	semapv:ManualMappingCuration	2018-08-21
DOID:9007160	Idiopathic Basal Ganglia Calcification 8	skos:exactMatch	MIM:618824	Basal ganglia calcification, idiopathic, 8, autosomal recessive	semapv:ManualMappingCuration	2020-03-30
DOID:9007161	Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	skos:exactMatch	MIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	semapv:ManualMappingCuration	2016-01-15
DOID:9007163	Craniotelencephalic Dysplasia	skos:exactMatch	MIM:218670	CRANIOTELENCEPHALIC DYSPLASIA	semapv:ManualMappingCuration	
DOID:9007164	Dyschondrosteosis and Nephritis	skos:exactMatch	MIM:127350	DYSCHONDROSTEOSIS AND NEPHRITIS	semapv:ManualMappingCuration	
DOID:9007167	Carney Triad	skos:exactMatch	MIM:604287	CARNEY TRIAD	semapv:ManualMappingCuration	
DOID:9007169	Ichthyosiform Erythroderma, Corneal Involvement, Deafness	skos:exactMatch	MIM:242150	Keratitis-ichthyosis-deafness syndrome, autosomal recessive	semapv:ManualMappingCuration	2020-04-22
DOID:9007173	Familial Natural Short Sleep 1	skos:exactMatch	MIM:612975	[Short sleep, familial natural, 1]	semapv:ManualMappingCuration	2017-10-10
DOID:9007177	Noninsulin-Dependent Diabetes Mellitus with Deafness	skos:exactMatch	MIM:520000	DIABETES AND DEAFNESS, MATERNALLY INHERITED	semapv:ManualMappingCuration	2020-08-04
DOID:9007179	Ectodermal Dysplasia Adrenal Cyst	skos:exactMatch	MIM:129550	ECTODERMAL DYSPLASIA WITH ADRENAL CYST	semapv:ManualMappingCuration	
DOID:9007180	HELIX syndrome	skos:exactMatch	MIM:617671	HELIX syndrome	semapv:ManualMappingCuration	2017-12-04
DOID:9007183	Premature Chromatid Separation Trait	skos:exactMatch	MIM:176430	[Premature chromatid separation trait]	semapv:ManualMappingCuration	2014-06-23
DOID:9007185	Shprintzen-Goldberg Craniosynostosis	skos:exactMatch	MIM:182212	Shprintzen-Goldberg syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9007186	Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation	skos:exactMatch	MIM:206750	ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION	semapv:ManualMappingCuration	2015-12-09
DOID:9007195	Meacham Winn Culler Syndrome	skos:exactMatch	MIM:608978	Meacham syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9007196	Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors	skos:exactMatch	MIM:254190	MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS	semapv:ManualMappingCuration	
DOID:9007202	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA	skos:exactMatch	MIM:619306	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	semapv:ManualMappingCuration	2021-06-18
DOID:9007205	Spinal Muscular Atrophy, Ryukyuan Type	skos:exactMatch	MIM:271200	SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE	semapv:ManualMappingCuration	
DOID:9007207	Skin/Hair/Eye Pigmentation, Variation In, 7	skos:exactMatch	MIM:611664	[Skin/hair/eye pigmentation 7, blond/brown hair]	semapv:ManualMappingCuration	2022-12-06
DOID:9007210	Postaxial Polydactyly, with Dental and Vertebral Anomalies	skos:exactMatch	MIM:263540	POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES	semapv:ManualMappingCuration	
DOID:9007212	Anodontia of Permanent Dentition	skos:exactMatch	MIM:206780	ANODONTIA OF PERMANENT DENTITION	semapv:ManualMappingCuration	2018-08-22
DOID:9007213	Congenital Nonspherocytic Hemolytic Anemia 10	skos:exactMatch	MIM:618660	Anemia, congenital, nonspherocytic hemolytic, 10, glutathione reductase deficient	semapv:ManualMappingCuration	2014-10-20
DOID:9007215	Familial Ventricular Tachycardia	skos:exactMatch	MIM:192605	Ventricular tachycardia, idiopathic	semapv:ManualMappingCuration	2014-06-23
DOID:9007216	Spastic Paraplegia with Precocious Puberty	skos:exactMatch	MIM:182820	SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY	semapv:ManualMappingCuration	2022-11-07
DOID:9007217	Corneal Dystrophy, Fuchs Endothelial, 8	skos:exactMatch	MIM:615523	Corneal dystrophy, Fuchs endothelial, 8	semapv:ManualMappingCuration	2014-09-09
DOID:9007218	Supernumerary Der(22)t(8;22) Syndrome	skos:exactMatch	MIM:613700	Supernumerary der(22)t(8-22) syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:9007219	Marfanoid Habitus with Situs Inversus	skos:exactMatch	MIM:609008	MARFANOID HABITUS WITH SITUS INVERSUS	semapv:ManualMappingCuration	2022-12-06
DOID:9007222	Bone Marrow Failure Disorders	skos:exactMatch	MIM:PS614675	Bone marrow failure syndrome 1	semapv:ManualMappingCuration	2019-03-15
DOID:9007223	Isolated Thoracic Dysostosis	skos:exactMatch	MIM:187750	THORACIC DYSOSTOSIS, ISOLATED	semapv:ManualMappingCuration	
DOID:9007224	Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly	skos:exactMatch	MIM:620075	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly	semapv:ManualMappingCuration	2022-10-19
DOID:9007226	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8	skos:exactMatch	MIM:619132	?Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	semapv:ManualMappingCuration	2021-01-07
DOID:9007227	Bruck Syndrome 1	skos:exactMatch	MIM:259450	Bruck syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9007229	Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures	skos:exactMatch	MIM:619264	Neurodevelopmental disorder with dysmorphic facies and variable seizures	semapv:ManualMappingCuration	2021-04-14
DOID:9007230	Ectodermal Dysplasia and Neurosensory Deafness	skos:exactMatch	MIM:224800	ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS	semapv:ManualMappingCuration	
DOID:9007231	Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness	skos:exactMatch	MIM:609616	SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE CALCIFICATIONS, AND DEAFNESS	semapv:ManualMappingCuration	
DOID:9007235	Hydatidiform Mole, Recurrent, 4	skos:exactMatch	MIM:618432	Hydatidiform mole, recurrent, 4	semapv:ManualMappingCuration	2019-06-17
DOID:9007237	Angel Shaped Phalangoepiphyseal Dysplasia	skos:exactMatch	MIM:105835	ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA	semapv:ManualMappingCuration	
DOID:9007238	Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness	skos:exactMatch	MIM:274205	THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX, AND DEAFNESS	semapv:ManualMappingCuration	2022-11-14
DOID:9007239	Pulmonic Stenosis and Congenital Nephrosis	skos:exactMatch	MIM:265600	PULMONIC STENOSIS AND CONGENITAL NEPHROSIS	semapv:ManualMappingCuration	
DOID:9007240	Imerslund-Grasbeck Syndrome 2	skos:exactMatch	MIM:618882	Imerslund-Grasbeck syndrome 2	semapv:ManualMappingCuration	2020-05-19
DOID:9007242	Spondyloepiphyseal Dysplasia Tarda, Toledo Type	skos:exactMatch	MIM:271630	BRACHYOLMIA TYPE 1, TOLEDO TYPE	semapv:ManualMappingCuration	2018-08-23
DOID:9007248	Weill-Marchesani Syndrome 3	skos:exactMatch	MIM:614819	?Weill-Marchesani syndrome 3, recessive	semapv:ManualMappingCuration	2014-09-02
DOID:9007249	Metaphyseal Dysplasia without Hypotrichosis	skos:exactMatch	MIM:250460	Metaphyseal dysplasia without hypotrichosis	semapv:ManualMappingCuration	2017-10-03
DOID:9007250	Complex Cortical Dysplasia with Other Brain Malformations 11	skos:exactMatch	MIM:620156	Cortical dysplasia, complex, with other brain malformations 11	semapv:ManualMappingCuration	2022-12-12
DOID:9007254	Lumbar Stenosis, Familial	skos:exactMatch	MIM:152550	LUMBAR STENOSIS, FAMILIAL	semapv:ManualMappingCuration	
DOID:9007255	Variegate Porphyria, Childhood-Onset	skos:exactMatch	MIM:620483	Variegate porphyria, childhood-onset	semapv:ManualMappingCuration	2023-09-01
DOID:9007256	Prostate Cancer, Hereditary, 12	skos:exactMatch	MIM:611868	{Prostate cancer, hereditary, 12}	semapv:ManualMappingCuration	2017-10-03
DOID:9007261	Nonsyndromic Trigonocephaly	skos:exactMatch	MIM:PS190440	Trigonocephaly 1	semapv:ManualMappingCuration	2019-03-21
DOID:9007262	Autosomal Recessive Nonsyndromic Deafness 124	skos:exactMatch	MIM:620794	Deafness, autosomal recessive 124	semapv:ManualMappingCuration	2024-05-10
DOID:9007263	Cyanosis and Hepatic Disease	skos:exactMatch	MIM:219400	CYANOSIS AND HEPATIC DISEASE	semapv:ManualMappingCuration	
DOID:9007266	Satoyoshi Syndrome	skos:exactMatch	MIM:600705	SATOYOSHI SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9007268	Wilms Tumor 6	skos:exactMatch	MIM:616806	{Wilms tumor 6, susceptibility to}	semapv:ManualMappingCuration	2017-10-10
DOID:9007270	Freire-Maia Odontotrichomelic Syndrome	skos:exactMatch	MIM:273400	TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES	semapv:ManualMappingCuration	2022-12-06
DOID:9007272	Infantile Liver Failure Syndrome 2	skos:exactMatch	MIM:616483	Infantile liver failure syndrome 2	semapv:ManualMappingCuration	2017-10-10
DOID:9007275	Congenital Fascial Dystrophy	skos:exactMatch	MIM:228020	FASCIAL DYSTROPHY, CONGENITAL	semapv:ManualMappingCuration	
DOID:9007277	Split-Hand and Split-Foot With Hypodontia	skos:exactMatch	MIM:183500	SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA	semapv:ManualMappingCuration	
DOID:9007279	Type 2 Diabetes Mellitus 1	skos:exactMatch	MIM:601283	{Diabetes mellitus, noninsulin-dependent 1}	semapv:ManualMappingCuration	2017-10-03
DOID:9007280	Cognitive Function 1, Social	skos:exactMatch	MIM:300082	[Social cognition]	semapv:ManualMappingCuration	2014-06-23
DOID:9007281	Primary Hypertrophic Osteoarthropathy, Autosomal Dominant	skos:exactMatch	MIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant	semapv:ManualMappingCuration	2021-06-25
DOID:9007283	Familial Infantile Convulsions and Paroxysmal Choreoathetosis	skos:exactMatch	MIM:602066	Convulsions, familial infantile, with paroxysmal choreoathetosis	semapv:ManualMappingCuration	2017-10-03
DOID:9007285	Primary Ovarian Insufficiency 21	skos:exactMatch	MIM:620311	Premature ovarian failure 21	semapv:ManualMappingCuration	2023-04-07
DOID:9007288	Left Ventricular Noncompaction 1 	skos:exactMatch	MIM:604169	Left ventricular noncompaction 1, with or without congenital heart defects	semapv:ManualMappingCuration	2018-04-23
DOID:9007289	Hyperbilirubinemia, Shunt	skos:exactMatch	MIM:237800	HYPERBILIRUBINEMIA, SHUNT, PRIMARY	semapv:ManualMappingCuration	
DOID:9007291	Anencephaly 2	skos:exactMatch	MIM:619452	?Anencephaly 2	semapv:ManualMappingCuration	2021-07-27
DOID:9007292	Schwartz-Lelek Syndrome	skos:exactMatch	MIM:269300	CRANIOMETADIAPHYSEAL DYSPLASIA	semapv:ManualMappingCuration	2017-10-03
DOID:9007296	Right Bundle Branch Block, Familial Isolated Complete	skos:exactMatch	MIM:113950	BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT	semapv:ManualMappingCuration	
DOID:9007297	Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts	skos:exactMatch	MIM:603587	FOLLICULAR ATROPHODERMA, PERIORAL PIGMENTED, WITH MILIA AND EPIDERMOID CYSTS	semapv:ManualMappingCuration	2022-11-14
DOID:9007299	Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis	skos:exactMatch	MIM:PS301108	?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1	semapv:ManualMappingCuration	2023-07-07
DOID:9007303	Idiopathic Short Stature, Autosomal	skos:exactMatch	MIM:604271	Growth hormone insensitivity, partial	semapv:ManualMappingCuration	2017-10-03
DOID:9007304	Singleton Merten Syndrome	skos:exactMatch	MIM:PS182250	Singleton-Merten syndrome 1	semapv:ManualMappingCuration	2019-03-26
DOID:9007305	Renal Hypophosphatemia with Intracerebral Calcifications	skos:exactMatch	MIM:241519	HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS	semapv:ManualMappingCuration	
DOID:9007307	Blue Diaper Syndrome	skos:exactMatch	MIM:211000	BLUE DIAPER SYNDROME	semapv:ManualMappingCuration	
DOID:9007308	Congenital Lobar Emphysema	skos:exactMatch	MIM:130710	EMPHYSEMA, CONGENITAL LOBAR	semapv:ManualMappingCuration	
DOID:9007309	Craniorhiny	skos:exactMatch	MIM:123050	CRANIORHINY	semapv:ManualMappingCuration	2022-11-14
DOID:9007311	Platelet Factor 3 Deficiency	skos:exactMatch	MIM:173450	PLATELET FACTOR 3 DEFICIENCY	semapv:ManualMappingCuration	
DOID:9007312	Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria	skos:exactMatch	MIM:258470	OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA	semapv:ManualMappingCuration	
DOID:9007313	Triphalangeal Thumb with Double Phalanges	skos:exactMatch	MIM:190500	TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES	semapv:ManualMappingCuration	
DOID:9007317	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:619725	Neurodevelopmental disorder with or without variable movement or behavioral abnormalities	semapv:ManualMappingCuration	2022-08-01
DOID:9007318	Rowley-Rosenberg Syndrome	skos:exactMatch	MIM:268500	ROWLEY-ROSENBERG SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9007319	Joubert Syndrome 37	skos:exactMatch	MIM:619185	Joubert syndrome 37	semapv:ManualMappingCuration	2021-02-23
DOID:9007324	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY	skos:exactMatch	MIM:619972	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	semapv:ManualMappingCuration	2022-12-15
DOID:9007326	Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant	skos:exactMatch	MIM:605463	Radiation sensitivity/chromosome instability syndrome, autosomal dominant	semapv:ManualMappingCuration	2017-10-03
DOID:9007327	Cardiofacioneurodevelopmental Syndrome	skos:exactMatch	MIM:619123	Cardiofacioneurodevelopmental syndrome	semapv:ManualMappingCuration	2020-12-10
DOID:9007330	Monomelic Amyotrophy	skos:exactMatch	MIM:602440	AMYOTROPHY, MONOMELIC	semapv:ManualMappingCuration	
DOID:9007341	Persistence of Pupillary Membrane	skos:exactMatch	MIM:178900	PUPILLARY MEMBRANE, PERSISTENCE OF	semapv:ManualMappingCuration	
DOID:9007355	Hashimoto Disease	skos:exactMatch	MIM:140300	Hashimoto thyroiditis	semapv:ManualMappingCuration	2017-10-03
DOID:9007359	Anonychia-Ectrodactyly	skos:exactMatch	MIM:106900	ANONYCHIA-ECTRODACTYLY	semapv:ManualMappingCuration	
DOID:9007361	Hereditary Angioedema 5	skos:exactMatch	MIM:619361	?Angioedema, hereditary, 5	semapv:ManualMappingCuration	2021-06-11
DOID:9007362	Myopia 16	skos:exactMatch	MIM:612554	Myopia 16	semapv:ManualMappingCuration	2017-10-03
DOID:9007369	Microcephaly, Macrotia, and Mental Retardation	skos:exactMatch	MIM:602555	MICROCEPHALY, MACROTIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9007371	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES	skos:exactMatch	MIM:619150	Intellectual developmental disorder with paroxysmal dyskinesia or seizures	semapv:ManualMappingCuration	2021-02-15
DOID:9007375	Hypergonadotropic Hypogonadism and Partial Alopecia	skos:exactMatch	MIM:241090	HYPERGONADOTROPIC HYPOGONADISM AND PARTIAL ALOPECIA	semapv:ManualMappingCuration	
DOID:9007380	Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE	skos:exactMatch	MIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE	semapv:ManualMappingCuration	2014-09-09
DOID:9007386	Congenital Lower Urinary Tract Obstruction	skos:exactMatch	MIM:618612	Lower urinary tract obstruction, congenital	semapv:ManualMappingCuration	2019-11-12
DOID:9007387	Oligodontia-Colorectal Cancer Syndrome	skos:exactMatch	MIM:608615	Oligodontia-colorectal cancer syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9007388	Heterochromia Iridis	skos:exactMatch	MIM:142500	HETEROCHROMIA IRIDIS	semapv:ManualMappingCuration	
DOID:9007390	Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression	skos:exactMatch	MIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	semapv:ManualMappingCuration	2019-06-11
DOID:9007391	Inflammatory Bowel Disease 31	skos:exactMatch	MIM:619398	?Inflammatory bowel disease (infantile ulcerative colitis) 31	semapv:ManualMappingCuration	2021-06-24
DOID:9007392	Hyperzincemia with Functional Zinc Depletion	skos:exactMatch	MIM:601979	Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia	semapv:ManualMappingCuration	
DOID:9007395	Monocarboxylate Transporter 1 Deficiency	skos:exactMatch	MIM:616095	Monocarboxylate transporter 1 deficiency	semapv:ManualMappingCuration	2016-06-13
DOID:9007396	Atrioventricular Septal Defect 4	skos:exactMatch	MIM:614430	Atrioventricular septal defect 4	semapv:ManualMappingCuration	2014-09-02
DOID:9007404	Cheilitis Glandularis	skos:exactMatch	MIM:118330	CHEILITIS GLANDULARIS	semapv:ManualMappingCuration	
DOID:9007406	Distal Renal Tubular Acidosis	skos:exactMatch	MIM:PS179800	Distal renal tubular acidosis 1	semapv:ManualMappingCuration	2020-10-22
DOID:9007409	Microcephaly, Epilepsy, and Diabetes Syndrome 2	skos:exactMatch	MIM:619278	Microcephaly, epilepsy, and diabetes syndrome 2	semapv:ManualMappingCuration	2021-04-19
DOID:9007410	Temple-Baraitser syndrome	skos:exactMatch	MIM:611816	Temple-Baraitser syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:9007412	Mitchell-Riley Syndrome	skos:exactMatch	MIM:615710	Mitchell-Riley syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9007413	Prostate Cancer, Hereditary, 10	skos:exactMatch	MIM:611100	{Prostate cancer, hereditary, 10}	semapv:ManualMappingCuration	2017-10-03
DOID:9007415	Parkinson's Disease 26	skos:exactMatch	MIM:620923	{Parkinson disease 26, autosomal dominant, susceptibility to}	semapv:ManualMappingCuration	2024-08-23
DOID:9007416	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES	skos:exactMatch	MIM:619876	Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures	semapv:ManualMappingCuration	2024-03-26
DOID:9007418	Somnambulism	skos:exactMatch	MIM:613938	Parasomnia, sleepwalking type	semapv:ManualMappingCuration	2017-10-03
DOID:9007420	Liddle Syndrome 2	skos:exactMatch	MIM:618114	Liddle syndrome 2	semapv:ManualMappingCuration	2018-10-11
DOID:9007421	Visceral Heterotaxy 8, Autosomal	skos:exactMatch	MIM:617205	Heterotaxy, visceral, 8, autosomal	semapv:ManualMappingCuration	2017-04-26
DOID:9007423	Arhinia, Choanal Atresia, and Microphthalmia	skos:exactMatch	MIM:603457	Bosma arhinia microphthalmia syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:9007424	Mitochondrial Myopathy, and Ataxia	skos:exactMatch	MIM:617675	Myopathy, mitochondrial, and ataxia	semapv:ManualMappingCuration	2017-12-06
DOID:9007425	Diffuse Panbronchiolitis	skos:exactMatch	MIM:604809	Panbronchiolitis, diffuse	semapv:ManualMappingCuration	2017-10-03
DOID:9007427	ZIEGLER-HUANG SYNDROME	skos:exactMatch	MIM:620501	Ziegler-Huang syndrome	semapv:ManualMappingCuration	2023-11-10
DOID:9007433	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES	skos:exactMatch	MIM:618453	?Intellectual developmental disorder with short stature and variable skeletal anomalies	semapv:ManualMappingCuration	2019-09-13
DOID:9007438	Kasabach-Merritt Syndrome	skos:exactMatch	MIM:141000	HEMANGIOMA-THROMBOCYTOPENIA SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9007440	Coronary Artery Disease, Autosomal Dominant 1	skos:exactMatch	MIM:608320	{Coronary artery disease, autosomal dominant, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:9007441	Abnormal Thyroid Hormone Metabolism 3	skos:exactMatch	MIM:620198	Thyroid hormone metabolism, abnormal, 3	semapv:ManualMappingCuration	2023-01-11
DOID:9007442	Central Centrifugal Cicatricial Alopecia	skos:exactMatch	MIM:618352	CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA	semapv:ManualMappingCuration	2019-03-12
DOID:9007445	Autoimmune Lymphoproliferative Syndrome, Type V	skos:exactMatch	MIM:616100	Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation	semapv:ManualMappingCuration	2017-02-15
DOID:9007451	Mental Retardation Mietens Weber Type	skos:exactMatch	MIM:249600	MIETENS-WEBER SYNDROME	semapv:ManualMappingCuration	
DOID:9007452	Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis	skos:exactMatch	MIM:611926	IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS	semapv:ManualMappingCuration	
DOID:9007453	Silver-Russell Syndrome 5	skos:exactMatch	MIM:618908	Silver-Russell syndrome 5	semapv:ManualMappingCuration	2020-06-15
DOID:9007455	Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies	skos:exactMatch	MIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	semapv:ManualMappingCuration	2019-08-13
DOID:9007456	Female Infertility	skos:exactMatch	MIM:PS615774	Oocyte/zygote/embryo maturation arrest 1	semapv:ManualMappingCuration	2019-03-27
DOID:9007457	Dyskinesias, Seizures, and Intellectual Developmental Disorder	skos:exactMatch	MIM:617171	Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures	semapv:ManualMappingCuration	2017-03-03
DOID:9007458	Familial Obstructive Jaundice of Infancy	skos:exactMatch	MIM:308600	JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY	semapv:ManualMappingCuration	
DOID:9007463	Silver-Russell Syndrome 2	skos:exactMatch	MIM:618905	Silver-Russell syndrome 2	semapv:ManualMappingCuration	2020-06-15
DOID:9007464	Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation	skos:exactMatch	MIM:604278	Proximal renal tubular acidosis-ocular anomaly syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9007465	6-Phosphogluconolactonase Deficiency	skos:exactMatch	MIM:172150	6-PHOSPHOGLUCONOLACTONASE DEFICIENCY	semapv:ManualMappingCuration	
DOID:9007468	Neuhauser Daly Magnelli Syndrome	skos:exactMatch	MIM:190310	TREMOR, NYSTAGMUS, AND DUODENAL ULCER	semapv:ManualMappingCuration	
DOID:9007470	Patent Ductus Arteriosus 3	skos:exactMatch	MIM:617039	Patent ductus arteriosus 3	semapv:ManualMappingCuration	2017-03-29
DOID:9007473	Familial Hemorrhagic Diathesis due to Antithrombin	skos:exactMatch	MIM:207300	ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO	semapv:ManualMappingCuration	
DOID:9007475	Pulmonary Surfactant Metabolism Dysfunction 5	skos:exactMatch	MIM:614370	Surfactant metabolism dysfunction, pulmonary, 5	semapv:ManualMappingCuration	2014-09-02
DOID:9007478	Malocclusion, Angle Class III	skos:exactMatch	MIM:176700	PROGNATHISM, MANDIBULAR	semapv:ManualMappingCuration	
DOID:9007479	Habitual Abortions	skos:exactMatch	MIM:614389	{Pregnancy loss, recurrent, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-10
DOID:9007479	Habitual Abortions	skos:exactMatch	MIM:614390	{Pregnancy loss, recurrent, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-10
DOID:9007479	Habitual Abortions	skos:exactMatch	MIM:614391	{Pregnancy loss, recurrent, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-10
DOID:9007483	Epidermolysis Bullosa Simplex Superficialis	skos:exactMatch	MIM:607600	EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS	semapv:ManualMappingCuration	
DOID:9007485	Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation	skos:exactMatch	MIM:611291	Immunodeficiency 124, severe combined	semapv:ManualMappingCuration	2017-10-03
DOID:9007487	Idiopathic Basal Ganglia Calcification 7	skos:exactMatch	MIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	semapv:ManualMappingCuration	2019-02-13
DOID:9007493	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	skos:exactMatch	MIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	semapv:ManualMappingCuration	2017-10-03
DOID:9007497	Polyglucosan Body Disease, Adult Form	skos:exactMatch	MIM:263570	Polyglucosan body disease, adult form	semapv:ManualMappingCuration	2014-10-20
DOID:9007499	Pyloric Atresia	skos:exactMatch	MIM:265950	PYLORIC ATRESIA	semapv:ManualMappingCuration	2022-10-13
DOID:9007501	Multiple System Atrophy (MSA) with Orthostatic Hypotension	skos:exactMatch	MIM:146500	{Multiple system atrophy, susceptibility to}	semapv:ManualMappingCuration	
DOID:9007503	Striatonigral Degeneration, Infantile, Mitochondrial	skos:exactMatch	MIM:500003	STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL	semapv:ManualMappingCuration	2018-08-21
DOID:9007504	Chromosome Xq27.3-q28 Duplication Syndrome	skos:exactMatch	MIM:300869	Chromosome Xq27.3-q28 duplication syndrome	semapv:ManualMappingCuration	2022-11-21
DOID:9007505	Familial Hypophosphatemic Rickets	skos:exactMatch	MIM:PS193100	Hypophosphatemic rickets, autosomal dominant	semapv:ManualMappingCuration	2019-03-19
DOID:9007508	Generalized Essential Telangiectasia	skos:exactMatch	MIM:187260	Telangiectasia, hereditary benign	semapv:ManualMappingCuration	2017-10-03
DOID:9007509	Hhhh Syndrome	skos:exactMatch	MIM:306960	HHHH SYNDROME	semapv:ManualMappingCuration	2019-03-22
DOID:9007510	Progressive Supranuclear Palsy 1	skos:exactMatch	MIM:601104	Supranuclear palsy, progressive	semapv:ManualMappingCuration	2024-09-23
DOID:9007513	Steel Syndrome	skos:exactMatch	MIM:615155	Steel syndrome	semapv:ManualMappingCuration	2015-06-11
DOID:9007514	Developmental and Epileptic Encephalopathy 114	skos:exactMatch	MIM:620774	Developmental and epileptic encephalopathy 114	semapv:ManualMappingCuration	2024-05-10
DOID:9007516	C1q Deficiency	skos:exactMatch	MIM:PS613652	C1q deficiency 1	semapv:ManualMappingCuration	2014-09-02
DOID:9007517	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2	skos:exactMatch	MIM:616738	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	semapv:ManualMappingCuration	2016-02-11
DOID:9007521	Desbuquois Dysplasia 1	skos:exactMatch	MIM:251450	Desbuquois dysplasia 1	semapv:ManualMappingCuration	2017-10-03
DOID:9007522	Aicardi-Goutieres Syndrome 6	skos:exactMatch	MIM:615010	Aicardi-Goutieres syndrome 6	semapv:ManualMappingCuration	2014-09-02
DOID:9007526	Dysplasia Epiphysealis Hemimelica	skos:exactMatch	MIM:127800	DYSPLASIA EPIPHYSEALIS HEMIMELICA	semapv:ManualMappingCuration	
DOID:9007527	Mitochondrial Myopathy, Infantile, Transient	skos:exactMatch	MIM:500009	MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT	semapv:ManualMappingCuration	2014-10-16
DOID:9007528	Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges	skos:exactMatch	MIM:106995	ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES	semapv:ManualMappingCuration	
DOID:9007531	Myopia 18, Autosomal Recessive	skos:exactMatch	MIM:255500	Myopia 18	semapv:ManualMappingCuration	2017-10-03
DOID:9007532	TAN-ALMURSHEDI SYNDROME	skos:exactMatch	MIM:620641	Tan-Almurshedi syndrome	semapv:ManualMappingCuration	2024-03-05
DOID:9007534	Complex Cortical Dysplasia with Other Brain Malformations 10	skos:exactMatch	MIM:618677	Cortical dysplasia, complex, with other brain malformations 10	semapv:ManualMappingCuration	2019-11-26
DOID:9007536	Moyamoya Disease 2	skos:exactMatch	MIM:607151	{Moyamoya disease 2, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9007540	X-Linked Cone Dystrophy with Tapetal-like Sheen	skos:exactMatch	MIM:304030	CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN	semapv:ManualMappingCuration	2022-12-06
DOID:9007541	Common Variable Immunodeficiency 15	skos:exactMatch	MIM:620670	Immunodeficiency, common variable, 15	semapv:ManualMappingCuration	2024-01-19
DOID:9007543	Familial Cirrhosis	skos:exactMatch	MIM:118900	CIRRHOSIS, FAMILIAL	semapv:ManualMappingCuration	2022-11-21
DOID:9007543	Familial Cirrhosis	skos:exactMatch	MIM:215600	{Cirrhosis, noncryptogenic, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9007546	Idiopathic Basal Ganglia Calcification 1	skos:exactMatch	MIM:213600	Basal ganglia calcification, idiopathic, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9007549	Neurofibromatosis Type 4, of Riccardi	skos:exactMatch	MIM:162270	NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI	semapv:ManualMappingCuration	2018-08-22
DOID:9007555	Spinal Muscular Atrophy with Congenital Bone Fractures 2	skos:exactMatch	MIM:616867	Spinal muscular atrophy with congenital bone fractures 2	semapv:ManualMappingCuration	2016-04-15
DOID:9007556	Arima Syndrome	skos:exactMatch	MIM:243910	ARIMA SYNDROME	semapv:ManualMappingCuration	
DOID:9007560	Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities	skos:exactMatch	MIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	semapv:ManualMappingCuration	2017-12-04
DOID:9007561	Premature Ovarian Failure 23	skos:exactMatch	MIM:620686	Premature ovarian failure 23	semapv:ManualMappingCuration	2024-01-31
DOID:9007562	Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	skos:exactMatch	MIM:260910	PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL	semapv:ManualMappingCuration	
DOID:9007567	Ritscher-Schinzel Syndrome 4	skos:exactMatch	MIM:619435	Ritscher-Schinzel syndrome 4	semapv:ManualMappingCuration	2021-07-27
DOID:9007570	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES	skos:exactMatch	MIM:620445	Neurodevelopmental disorder with microcephaly and movement abnormalities	semapv:ManualMappingCuration	2023-08-29
DOID:9007572	Congenital Deafness, with Vitiligo and Achalasia	skos:exactMatch	MIM:221350	DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA	semapv:ManualMappingCuration	
DOID:9007574	Osteoid Osteoma	skos:exactMatch	MIM:259550	OSTEOID OSTEOMA	semapv:ManualMappingCuration	2020-03-02
DOID:9007577	Jervell And Lange-Nielsen Syndrome 2	skos:exactMatch	MIM:612347	Jervell and Lange-Nielsen syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:9007581	Familial Atrial Fibrillation 6	skos:exactMatch	MIM:612201	Atrial fibrillation, familial, 6	semapv:ManualMappingCuration	2017-10-03
DOID:9007582	Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase	skos:exactMatch	MIM:240000	HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE	semapv:ManualMappingCuration	
DOID:9007586	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER	skos:exactMatch	MIM:620782	Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	semapv:ManualMappingCuration	2024-05-28
DOID:9007587	Autosomal Dominant Intellectual Developmental Disorder 74	skos:exactMatch	MIM:620688	Intellectual developmental disorder, autosomal dominant 74	semapv:ManualMappingCuration	2024-02-05
DOID:9007589	Ventriculomegaly with Defects of the Radius and Kidney	skos:exactMatch	MIM:602200	VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY	semapv:ManualMappingCuration	
DOID:9007591	Hypermetabolism due to Defect in Mitochondria	skos:exactMatch	MIM:238800	HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 1	semapv:ManualMappingCuration	
DOID:9007593	Naguib-Richieri-Costa Syndrome	skos:exactMatch	MIM:239710	ACROFRONTOFACIONASAL DYSOSTOSIS 2	semapv:ManualMappingCuration	2018-08-22
DOID:9007596	Car Factor Deficiency	skos:exactMatch	MIM:114650	CAR FACTOR DEFICIENCY	semapv:ManualMappingCuration	
DOID:9007597	Thyroid Cancer, Nonmedullary, 5	skos:exactMatch	MIM:616535	{?Thyroid cancer, nonmedullary, 5}	semapv:ManualMappingCuration	2015-10-06
DOID:9007600	Renal and Mullerian Duct Hypoplasia	skos:exactMatch	MIM:266810	RENAL AND MULLERIAN DUCT HYPOPLASIA	semapv:ManualMappingCuration	
DOID:9007602	Sillence Syndrome	skos:exactMatch	MIM:113450	BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME	semapv:ManualMappingCuration	
DOID:9007605	Renal Hypouricemia	skos:exactMatch	MIM:220150	Hypouricemia, renal	semapv:ManualMappingCuration	2017-10-03
DOID:9007606	CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME	skos:exactMatch	MIM:619841	Chilton-Okur-Chung neurodevelopmental syndrome	semapv:ManualMappingCuration	2022-06-10
DOID:9007607	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES	skos:exactMatch	MIM:619797	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	semapv:ManualMappingCuration	2022-05-05
DOID:9007608	Neoplastic Cell Transformation	skos:exactMatch	MIM:614401	{Accelerated tumor formation, susceptibility to}	semapv:ManualMappingCuration	2017-10-10
DOID:9007612	Arachnoid Cysts	skos:exactMatch	MIM:207790	ARACHNOID CYSTS, INTRACRANIAL	semapv:ManualMappingCuration	2022-11-21
DOID:9007615	Primary Ciliary Dyskinesia 53	skos:exactMatch	MIM:620642	Ciliary dyskinesia, primary, 53	semapv:ManualMappingCuration	2023-12-04
DOID:9007616	Polyglucosan Body Myopathy 1 with or without Immunodeficiency	skos:exactMatch	MIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	semapv:ManualMappingCuration	2017-03-30
DOID:9007617	Conotruncal Cardiac Defects	skos:exactMatch	MIM:217095	Conotruncal anomaly face syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:9007619	Familial Mediterranean Fever, Autosomal Dominant	skos:exactMatch	MIM:134610	Familial Mediterranean fever, AD	semapv:ManualMappingCuration	2017-10-03
DOID:9007623	Late-Onset Carnitine Palmitoyltransferase II Deficiency	skos:exactMatch	MIM:255110	CPT II deficiency, myopathic, stress-induced	semapv:ManualMappingCuration	2017-10-03
DOID:9007625	Primary Autosomal Recessive Microcephaly 28	skos:exactMatch	MIM:619453	?Microcephaly 28, primary, autosomal recessive	semapv:ManualMappingCuration	2021-07-29
DOID:9007626	Myosclerosis, Autosomal Recessive	skos:exactMatch	MIM:255600	?Myosclerosis, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:9007627	Porokeratosis 1, Multiple Types	skos:exactMatch	MIM:175800	Porokeratosis 1, multiple types	semapv:ManualMappingCuration	2017-10-10
DOID:9007628	Immunodeficiency 118	skos:exactMatch	MIM:301115	Immunodeficiency 118, mycobacteriosis	semapv:ManualMappingCuration	2024-01-31
DOID:9007632	Encephalocraniocutaneous Lipomatosis	skos:exactMatch	MIM:613001	Encephalocraniocutaneous lipomatosis, somatic mosaic	semapv:ManualMappingCuration	2017-10-10
DOID:9007635	Progressive Supranuclear Palsy 3	skos:exactMatch	MIM:610898	Supranuclear palsy, progressive, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9007638	Photogenic Epilepsy with Spastic Diplegia and Mental Retardation	skos:exactMatch	MIM:226800	EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9007641	Cataract and Congenital Ichthyosis	skos:exactMatch	MIM:212400	CATARACT AND CONGENITAL ICHTHYOSIS	semapv:ManualMappingCuration	
DOID:9007643	Embryonal Rhabdomyosarcoma 1	skos:exactMatch	MIM:268210	Rhabdomyosarcoma, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:9007648	Thrombocytopenia 11	skos:exactMatch	MIM:620654	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	semapv:ManualMappingCuration	2024-01-05
DOID:9007649	Congenital Disorder of Glycosylation Type IIaa	skos:exactMatch	MIM:620454	?Congenital disorder of glycosylation, type IIaa	semapv:ManualMappingCuration	2023-07-28
DOID:9007652	C1q Deficiency 3	skos:exactMatch	MIM:620322	C1q deficiency 3	semapv:ManualMappingCuration	2023-04-14
DOID:9007654	FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL	skos:exactMatch	MIM:620734	?Cardiomyopathy, familial hypertrophic, 30, atrial	semapv:ManualMappingCuration	2024-03-18
DOID:9007656	Laryngeal Adductor Paralysis	skos:exactMatch	MIM:150270	?Laryngeal adductor paralysis	semapv:ManualMappingCuration	2017-10-03
DOID:9007658	McDonough Syndrome	skos:exactMatch	MIM:248950	MCDONOUGH SYNDROME	semapv:ManualMappingCuration	
DOID:9007660	Pallister-Hall-like Syndrome	skos:exactMatch	MIM:241800	Pallister-Hall-like syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9007662	Dwarfism with Tall Vertebrae	skos:exactMatch	MIM:126950	DWARFISM WITH TALL VERTEBRAE	semapv:ManualMappingCuration	2022-12-05
DOID:9007663	Frontotemporal Pachygyria	skos:exactMatch	MIM:610279	PACHYGYRIA, FRONTOTEMPORAL	semapv:ManualMappingCuration	
DOID:9007666	Nanophthalmos 3	skos:exactMatch	MIM:611897	Nanophthalmos 3	semapv:ManualMappingCuration	2017-10-03
DOID:9007667	Heart Defects Limb Shortening	skos:exactMatch	MIM:212135	CARDIOSKELETAL SYNDROME, KUWAITI TYPE	semapv:ManualMappingCuration	2022-10-31
DOID:9007668	Carnitine Palmitoyltransferase II Deficiency, Infantile	skos:exactMatch	MIM:600649	CPT II deficiency, infantile	semapv:ManualMappingCuration	2017-10-03
DOID:9007670	Alopecia Areata 1	skos:exactMatch	MIM:104000	Alopecia areata 1	semapv:ManualMappingCuration	2017-10-03
DOID:9007672	Reardon Wilson Cavanagh Syndrome	skos:exactMatch	MIM:208850	ATAXIA-DEAFNESS-RETARDATION SYNDROME	semapv:ManualMappingCuration	
DOID:9007673	Metatarsus Varus, Type I	skos:exactMatch	MIM:156520	METATARSUS VARUS, TYPE I	semapv:ManualMappingCuration	
DOID:9007674	Keppen-Lubinsky Syndrome	skos:exactMatch	MIM:614098	Keppen-Lubinsky syndrome	semapv:ManualMappingCuration	2017-04-28
DOID:9007675	Pallister Killian Syndrome	skos:exactMatch	MIM:601803	Pallister-Killian syndrome	semapv:ManualMappingCuration	2019-04-10
DOID:9007676	AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION	skos:exactMatch	MIM:620795	Autoinflammation with episodic fever and immune dysregulation	semapv:ManualMappingCuration	2024-05-09
DOID:9007677	Autosomal Dominant Intellectual Developmental Disorder 67	skos:exactMatch	MIM:619927	Intellectual developmental disorder, autosomal dominant 67	semapv:ManualMappingCuration	2022-06-30
DOID:9007678	Dermatoosteolysis Kirghizian Type	skos:exactMatch	MIM:221810	DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE	semapv:ManualMappingCuration	
DOID:9007679	Chronic recurrent multifocal osteomyelitis 3	skos:exactMatch	MIM:259680	?Chronic recurrent multifocal osteomyelitis 3	semapv:ManualMappingCuration	2017-10-03
DOID:9007680	Nuclear Type Mitochondrial Complex I Deficiency 39	skos:exactMatch	MIM:620135	?Mitochondrial complex I deficiency, nuclear type 39	semapv:ManualMappingCuration	2022-11-28
DOID:9007682	Trichohepatoneurodevelopmental Syndrome	skos:exactMatch	MIM:618268	Trichohepatoneurodevelopmental syndrome	semapv:ManualMappingCuration	2019-04-09
DOID:9007684	Cutaneous Small Vessel Lymphocytic Vasculitis	skos:exactMatch	MIM:609817	VASCULITIS, LYMPHOCYTIC, CUTANEOUS SMALL VESSEL	semapv:ManualMappingCuration	
DOID:9007685	Cytosolic Acetoacetyl-CoA Thiolase Deficiency	skos:exactMatch	MIM:614055	?ACAT2 deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:9007686	Cerebrocortical Degeneration of Infancy	skos:exactMatch	MIM:213950	CEREBROCORTICAL DEGENERATION OF INFANCY	semapv:ManualMappingCuration	
DOID:9007693	CAPOS Syndrome	skos:exactMatch	MIM:601338	CAPOS syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:9007694	COACH Syndrome 3	skos:exactMatch	MIM:619113	?COACH syndrome 3	semapv:ManualMappingCuration	2020-12-02
DOID:9007695	Coloboma of Alar-Nasal Cartilages with Telecanthus	skos:exactMatch	MIM:203000	FRONTONASAL DYSPLASIA WITH ALAR CLEFTS	semapv:ManualMappingCuration	
DOID:9007697	Charcot-Marie-Tooth Disease Type 6A	skos:exactMatch	MIM:601152	Hereditary motor and sensory neuropathy VIA	semapv:ManualMappingCuration	2017-10-03
DOID:9007698	Copper Deficiency, Familial Benign	skos:exactMatch	MIM:121270	COPPER DEFICIENCY, FAMILIAL BENIGN	semapv:ManualMappingCuration	
DOID:9007700	Congenital Corneal Opacities, Cornea Guttata, and Corectopia	skos:exactMatch	MIM:608484	CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA	semapv:ManualMappingCuration	2018-08-22
DOID:9007705	Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration	skos:exactMatch	MIM:602685	Impaired intellectual development with spasticity and tapetoretinal degeneration	semapv:ManualMappingCuration	2017-10-03
DOID:9007706	MASS Syndrome	skos:exactMatch	MIM:604308	MASS syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9007709	Membranoproliferative Glomerulonephritis, X-Linked	skos:exactMatch	MIM:305800	MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED	semapv:ManualMappingCuration	2017-10-03
DOID:9007710	GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE	skos:exactMatch	MIM:617301	Glycine encephalopathy with normal serum glycine	semapv:ManualMappingCuration	2017-02-20
DOID:9007711	ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	skos:exactMatch	MIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	semapv:ManualMappingCuration	2017-10-03
DOID:9007713	Hypospadias 3, Autosomal	skos:exactMatch	MIM:146450	Hypospadias 3, autosomal	semapv:ManualMappingCuration	2017-10-03
DOID:9007714	Mental and Growth Retardation with Amblyopia	skos:exactMatch	MIM:156190	MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA	semapv:ManualMappingCuration	
DOID:9007718	Platelet-Type Bleeding Disorder 22	skos:exactMatch	MIM:618462	?Bleeding disorder, platelet-type, 22	semapv:ManualMappingCuration	2019-06-25
DOID:9007719	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	skos:exactMatch	MIM:618646	Diencephalic-mesencephalic junction dysplasia syndrome 2	semapv:ManualMappingCuration	2019-10-31
DOID:9007721	Renal Hypouricemia, 2	skos:exactMatch	MIM:612076	Hypouricemia, renal, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9007722	Myoclonus	skos:exactMatch	MIM:PS614937	?Myoclonus, familial, 1	semapv:ManualMappingCuration	2019-04-29
DOID:9007732	Squalene Synthase Deficiency	skos:exactMatch	MIM:618156	Squalene synthase deficiency	semapv:ManualMappingCuration	2019-06-21
DOID:9007733	Familial Renal Hypouricemia due to Tubular Hypersecretion	skos:exactMatch	MIM:307830	HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION	semapv:ManualMappingCuration	
DOID:9007737	Parkinson's Disease 11	skos:exactMatch	MIM:607688	{Parkinson disease 11}	semapv:ManualMappingCuration	2014-06-23
DOID:9007739	Craniofacial Dysostosis with Diaphyseal Hyperplasia	skos:exactMatch	MIM:122900	CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA	semapv:ManualMappingCuration	
DOID:9007742	B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations	skos:exactMatch	MIM:609296	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	semapv:ManualMappingCuration	2021-07-21
DOID:9007743	Generalized Thyroid Hormone Resistance, Autosomal Dominant	skos:exactMatch	MIM:188570	Thyroid hormone resistance	semapv:ManualMappingCuration	2017-10-03
DOID:9007744	Mandibuloacral Dysplasia Progeroid Syndrome	skos:exactMatch	MIM:619127	Mandibuloacral dysplasia progeroid syndrome	semapv:ManualMappingCuration	2020-12-18
DOID:9007745	Major Affective Disorder 5	skos:exactMatch	MIM:611535	{Major affective disorder 5}	semapv:ManualMappingCuration	2017-10-03
DOID:9007746	Glaucoma 1, Open Angle, O	skos:exactMatch	MIM:613100	Glaucoma 1, open angle, 1O	semapv:ManualMappingCuration	2017-10-03
DOID:9007747	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	skos:exactMatch	MIM:611105	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	semapv:ManualMappingCuration	2017-10-03
DOID:9007750	Lissencephaly Type III and Bone Dysplasia	skos:exactMatch	MIM:601160	LISSENCEPHALY TYPE III AND BONE DYSPLASIA	semapv:ManualMappingCuration	2021-01-20
DOID:9007753	Congenital Heart Defects, Multiple Types, 2	skos:exactMatch	MIM:614980	Congenital heart defects, nonsyndromic, 2	semapv:ManualMappingCuration	2014-09-09
DOID:9007754	Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome	skos:exactMatch	MIM:604315	ANEMIA, CONGENITAL HYPOPLASTIC, WITH MULTIPLE CONGENITAL ANOMALIES/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	semapv:ManualMappingCuration	2022-11-29
DOID:9007757	Catatrichy	skos:exactMatch	MIM:116850	CATATRICHY	semapv:ManualMappingCuration	2022-11-14
DOID:9007762	Fingerprint Body Myopathy	skos:exactMatch	MIM:305550	FINGERPRINT BODY MYOPATHY	semapv:ManualMappingCuration	2022-11-07
DOID:9007765	Membranous Cranial Ossification, Delayed	skos:exactMatch	MIM:155980	MEMBRANOUS CRANIAL OSSIFICATION, DELAYED	semapv:ManualMappingCuration	
DOID:9007767	Maxillofacial Dysostosis	skos:exactMatch	MIM:155000	MAXILLOFACIAL DYSOSTOSIS	semapv:ManualMappingCuration	
DOID:9007771	Gallbladder Disease 3	skos:exactMatch	MIM:609919	Gallbladder disease 3	semapv:ManualMappingCuration	2017-10-03
DOID:9007774	Birk-Landau-Perez Syndrome	skos:exactMatch	MIM:617595	Birk-Landau-Perez syndrome	semapv:ManualMappingCuration	2017-11-30
DOID:9007775	Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth	skos:exactMatch	MIM:608811	METAPHYSEAL UNDERMODELING, SPONDYLAR DYSPLASIA, AND OVERGROWTH	semapv:ManualMappingCuration	
DOID:9007777	Acute Recurrent Myoglobinuria, Autosomal Recessive	skos:exactMatch	MIM:268200	Myoglobinuria, acute recurrent, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:9007778	Type 2 Diabetes Mellitus 4	skos:exactMatch	MIM:608036	{Diabetes mellitus, noninsulin-dependent}	semapv:ManualMappingCuration	2017-10-03
DOID:9007779	Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2	skos:exactMatch	MIM:619120	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	semapv:ManualMappingCuration	2020-12-11
DOID:9007781	Retinoschisis, Autosomal Dominant	skos:exactMatch	MIM:180270	RETINOSCHISIS, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	
DOID:9007788	Cardiac-Urogenital Syndrome	skos:exactMatch	MIM:618280	Cardiac-urogenital syndrome	semapv:ManualMappingCuration	2019-04-30
DOID:9007789	Congenital Communicating Hydrocephalus 1	skos:exactMatch	MIM:618667	Hydrocephalus, congenital, 4	semapv:ManualMappingCuration	2019-12-30
DOID:9007790	Winter Shortland Temple Syndrome	skos:exactMatch	MIM:601707	Curry-Jones syndrome, somatic mosaic	semapv:ManualMappingCuration	2017-10-10
DOID:9007791	MacKay Shek Carr Syndrome	skos:exactMatch	MIM:267760	RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION, AND ANGLE CLOSURE GLAUCOMA	semapv:ManualMappingCuration	
DOID:9007792	Spastic paraplegia 30, autosomal recessive	skos:exactMatch	MIM:620607	Spastic paraplegia 30, autosomal recessive	semapv:ManualMappingCuration	2024-07-17
DOID:9007795	Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis	skos:exactMatch	MIM:247800	LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS	semapv:ManualMappingCuration	
DOID:9007800	Crane-Heise Syndrome	skos:exactMatch	MIM:218090	CRANE-HEISE SYNDROME	semapv:ManualMappingCuration	2022-11-21
DOID:9007807	Epidermolysis Bullosa with Diaphragmatic Hernia	skos:exactMatch	MIM:226735	EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA	semapv:ManualMappingCuration	2022-11-21
DOID:9007808	Intrathoracic Gastric Volvulus	skos:exactMatch	MIM:137210	GASTRIC VOLVULUS, INTRATHORACIC	semapv:ManualMappingCuration	2022-11-29
DOID:9007810	Familial Osteodysplasia, Anderson Type	skos:exactMatch	MIM:259250	OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE	semapv:ManualMappingCuration	
DOID:9007814	Familial Atrial Myxoma	skos:exactMatch	MIM:255960	Myxoma, intracardiac	semapv:ManualMappingCuration	2017-10-03
DOID:9007815	Major Affective Disorder 9	skos:exactMatch	MIM:612372	{Major affective disorder-9, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9007816	Central Cloudy Dystrophy of Francois	skos:exactMatch	MIM:217600	CENTRAL CLOUDY DYSTROPHY OF FRANCOIS	semapv:ManualMappingCuration	
DOID:9007818	Distal Renal Tubular Acidosis 4 with Hemolytic Anemia	skos:exactMatch	MIM:611590	Distal renal tubular acidosis 4 with hemolytic anemia	semapv:ManualMappingCuration	2017-10-03
DOID:9007822	primary pulmonary hypertension 5	skos:exactMatch	MIM:265400	Pulmonary hypertension, primary, 5	semapv:ManualMappingCuration	2018-08-21
DOID:9007823	Chromosome Xq26.3 Duplication Syndrome	skos:exactMatch	MIM:300942	Chromosome Xq26.3 duplication syndrome	semapv:ManualMappingCuration	2016-08-09
DOID:9007832	Santos Syndrome	skos:exactMatch	MIM:613005	SANTOS SYNDROME	semapv:ManualMappingCuration	2022-12-16
DOID:9007834	Hyperthyroxinemia due to Decreased Peripheral Conversion of T4	skos:exactMatch	MIM:147892	Thyroid hormone metabolism, abnormal, 2	semapv:ManualMappingCuration	2014-10-20
DOID:9007837	PARC Syndrome	skos:exactMatch	MIM:600331	PARC SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9007839	Selective Tooth Agenesis 3	skos:exactMatch	MIM:604625	Tooth agenesis, selective, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9007844	Branchiootic Syndrome 3	skos:exactMatch	MIM:608389	Branchiootic syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:9007848	Sarcoplasmic Body Myopathy	skos:exactMatch	MIM:620286	Myopathy, sarcoplasmic body	semapv:ManualMappingCuration	2023-03-29
DOID:9007849	Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet	skos:exactMatch	MIM:275595	TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET	semapv:ManualMappingCuration	
DOID:9007850	Verloove-Vanhorick Brubakk Syndrome	skos:exactMatch	MIM:215850	CLEFT-LIMB-HEART MALFORMATION SYNDROME	semapv:ManualMappingCuration	2022-10-31
DOID:9007851	Familial Developmental Dysphasia	skos:exactMatch	MIM:600117	DYSPHASIA, FAMILIAL DEVELOPMENTAL	semapv:ManualMappingCuration	
DOID:9007852	Generalized Epilepsy with Febrile Seizures Plus, Type 12	skos:exactMatch	MIM:620755	Generalized epilepsy with febrile seizures plus, type 12	semapv:ManualMappingCuration	2024-03-18
DOID:9007853	Worster-Drought Syndrome	skos:exactMatch	MIM:185480	SUPRABULBAR PARESIS, CONGENITAL	semapv:ManualMappingCuration	
DOID:9007855	Oslam syndrome	skos:exactMatch	MIM:165660	OSLAM SYNDROME	semapv:ManualMappingCuration	
DOID:9007856	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities	skos:exactMatch	MIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities	semapv:ManualMappingCuration	2014-10-20
DOID:9007857	Maleylacetoacetate Isomerase Deficiency	skos:exactMatch	MIM:617596	[Maleylacetoacetate isomerase deficiency]	semapv:ManualMappingCuration	2017-12-04
DOID:9007858	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE	skos:exactMatch	MIM:301039	Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type	semapv:ManualMappingCuration	2020-07-21
DOID:9007863	Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery	skos:exactMatch	MIM:606894	DUODENOJEJUNAL ATRESIA WITH VOLVULUS, ABSENT DORSAL MESENTERY, AND ABSENT SUPERIOR MESENTERIC ARTERY	semapv:ManualMappingCuration	
DOID:9007867	Aicardi-Goutieres Syndrome 5	skos:exactMatch	MIM:612952	Aicardi-Goutieres syndrome 5	semapv:ManualMappingCuration	2017-10-03
DOID:9007868	Multiple mitochondrial dysfunctions syndrome 7	skos:exactMatch	MIM:620423	Multiple mitochondrial dysfunctions syndrome 7	semapv:ManualMappingCuration	2023-07-07
DOID:9007873	Primary Intraosseous Vascular Malformation	skos:exactMatch	MIM:606893	Vascular malformation, primary intraosseous	semapv:ManualMappingCuration	2017-10-10
DOID:9007875	Kabuki Syndrome 2	skos:exactMatch	MIM:300867	Kabuki syndrome 2	semapv:ManualMappingCuration	2014-09-09
DOID:9007879	Thrombocythemia 2	skos:exactMatch	MIM:601977	Thrombocythemia 2	semapv:ManualMappingCuration	2014-09-02
DOID:9007882	Benign Neonatal Epilepsy, Autosomal Recessive	skos:exactMatch	MIM:269720	SEIZURES, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	2018-08-21
DOID:9007884	Lactic Acidosis, Chronic Adult Form	skos:exactMatch	MIM:150170	LACTIC ACIDOSIS, CHRONIC ADULT FORM	semapv:ManualMappingCuration	2022-11-14
DOID:9007885	Pachyonychia Congenita 4	skos:exactMatch	MIM:615728	Pachyonychia congenita 4	semapv:ManualMappingCuration	2017-10-10
DOID:9007888	primary pulmonary hypertension 3	skos:exactMatch	MIM:615343	Pulmonary hypertension, primary, 3	semapv:ManualMappingCuration	2014-09-09
DOID:9007890	X-Linked Ichthyosis without Steroid Sulfatase Deficiency	skos:exactMatch	MIM:300001	ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY	semapv:ManualMappingCuration	
DOID:9007893	Glycosylphosphatidylinositol Biosynthesis Defect 21	skos:exactMatch	MIM:618590	Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis	semapv:ManualMappingCuration	2019-09-18
DOID:9007894	Autosomal Recessive Nonsyndromic Deafness 122	skos:exactMatch	MIM:620714	?Deafness, autosomal recessive 122	semapv:ManualMappingCuration	2024-02-19
DOID:9007897	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY	skos:exactMatch	MIM:619076	?Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy	semapv:ManualMappingCuration	2021-01-18
DOID:9007898	FG Syndrome 1	skos:exactMatch	MIM:305450	Opitz-Kaveggia syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9007900	Multisystemic Smooth Muscle Dysfunction Syndrome	skos:exactMatch	MIM:613834	Smooth muscle dysfunction syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9007902	Progressive Encephalopathy, with or without Lipodystrophy	skos:exactMatch	MIM:615924	Encephalopathy, progressive, with or without lipodystrophy	semapv:ManualMappingCuration	2015-01-16
DOID:9007903	Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous	skos:exactMatch	MIM:245660	Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous	semapv:ManualMappingCuration	2017-10-03
DOID:9007907	Congenital Myopathy with Neuropathy and Deafness	skos:exactMatch	MIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	semapv:ManualMappingCuration	2017-07-12
DOID:9007908	Aortic Coarctation	skos:exactMatch	MIM:120000	COARCTATION OF AORTA	semapv:ManualMappingCuration	2022-12-05
DOID:9007909	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES	skos:exactMatch	MIM:620746	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities	semapv:ManualMappingCuration	2024-05-28
DOID:9007910	Autoinflammation with Arthritis and Dyskeratosis	skos:exactMatch	MIM:617388	Autoinflammation with arthritis and dyskeratosis	semapv:ManualMappingCuration	2017-06-12
DOID:9007911	Myoglobinuria, Autosomal Dominant	skos:exactMatch	MIM:160010	MYOGLOBINURIA, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	2018-08-21
DOID:9007912	Familial Granulomatous Arteritis with Juvenile Polyarthritis	skos:exactMatch	MIM:108050	ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS	semapv:ManualMappingCuration	
DOID:9007914	Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia	skos:exactMatch	MIM:603740	ACRODYSPLASIA WITH OSSIFICATION ABNORMALITIES, SHORT STATURE, AND FIBULAR HYPOPLASIA	semapv:ManualMappingCuration	
DOID:9007916	Age Related Macular Degeneration 3	skos:exactMatch	MIM:608895	Macular degeneration, age-related, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9007917	Supernumerary Tooth	skos:exactMatch	MIM:187100	TEETH, SUPERNUMERARY	semapv:ManualMappingCuration	
DOID:9007924	Dyskinesia with Orofacial Involvement	skos:exactMatch	MIM:PS606703	Dyskinesia with orofacial involvement, autosomal dominant	semapv:ManualMappingCuration	2022-02-01
DOID:9007926	Prostate Cancer, Hereditary, X-Linked 3	skos:exactMatch	MIM:301120	{Prostate cancer, susceptibility to}	semapv:ManualMappingCuration	2024-07-17
DOID:9007927	Polydactyly Myopia Syndrome	skos:exactMatch	MIM:174310	POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA	semapv:ManualMappingCuration	
DOID:9007928	Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature	skos:exactMatch	MIM:126320	DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE	semapv:ManualMappingCuration	
DOID:9007933	Richards-Rundle Syndrome	skos:exactMatch	MIM:245100	RICHARDS-RUNDLE SYNDROME	semapv:ManualMappingCuration	
DOID:9007934	Ectrodactyly-Cleft Palate Syndrome	skos:exactMatch	MIM:129830	ECTRODACTYLY-CLEFT PALATE SYNDROME	semapv:ManualMappingCuration	
DOID:9007936	Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature	skos:exactMatch	MIM:615139	FILS syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9007937	NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES	skos:exactMatch	MIM:619833	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	semapv:ManualMappingCuration	2022-06-30
DOID:9007938	Myxomatous Mitral Valve Prolapse 3	skos:exactMatch	MIM:610840	?Mitral valve prolapse 3	semapv:ManualMappingCuration	2017-10-03
DOID:9007939	Multiple Self-healing Palmoplantar Carcinoma	skos:exactMatch	MIM:615225	Palmoplantar carcinoma, multiple self-healing	semapv:ManualMappingCuration	2014-09-09
DOID:9007940	Primary Bile Acid Malabsorption 1	skos:exactMatch	MIM:613291	?Bile acid malabsorption, primary, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9007941	Retinal Dystrophy with or without Macular Staphyloma	skos:exactMatch	MIM:617547	Retinal dystrophy with macular staphyloma	semapv:ManualMappingCuration	2017-07-12
DOID:9007942	Nephrosis with Deafness and Urinary Tract and Digital Malformations	skos:exactMatch	MIM:256200	NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS	semapv:ManualMappingCuration	
DOID:9007943	Microphthalmia/Coloboma 12	skos:exactMatch	MIM:120200	Microphthalmia/coloboma 12	semapv:ManualMappingCuration	2017-10-03
DOID:9007944	IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION	skos:exactMatch	MIM:620514	?Immune dysregulation, autoimmunity, and autoinflammation	semapv:ManualMappingCuration	2023-11-07
DOID:9007949	Ichthyosis, Split Hairs, and Amino Aciduria	skos:exactMatch	MIM:242550	ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA	semapv:ManualMappingCuration	
DOID:9007952	Cystinosis, Ocular Nonnephropathic	skos:exactMatch	MIM:219750	Cystinosis, ocular nonnephropathic	semapv:ManualMappingCuration	2017-10-03
DOID:9007954	CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA	skos:exactMatch	MIM:620558	Craniometadiaphyseal osteosclerosis with hip dysplasia	semapv:ManualMappingCuration	2024-01-18
DOID:9007959	Neurodegeneration with Ataxia and Late-Onset Optic Atrophy	skos:exactMatch	MIM:619259	Neurodegeneration with ataxia and late-onset optic atrophy	semapv:ManualMappingCuration	2021-04-13
DOID:9007960	Adult-Onset Muscular Dystrophy with Leukoencephalopathy	skos:exactMatch	MIM:253590	MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY	semapv:ManualMappingCuration	
DOID:9007961	Immunodeficiency 126	skos:exactMatch	MIM:620931	Immunodeficiency 126	semapv:ManualMappingCuration	2024-09-23
DOID:9007962	Craniofacial Microsomia 2	skos:exactMatch	MIM:620444	Craniofacial microsomia 2	semapv:ManualMappingCuration	2023-07-25
DOID:9007965	Vitelliform Macular Dystrophy 3	skos:exactMatch	MIM:608161	Macular dystrophy, vitelliform, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9007967	Alpha-Fetoprotein, Hereditary Persistence of	skos:exactMatch	MIM:615970	[Hereditary persistence of alpha-fetoprotein]	semapv:ManualMappingCuration	2022-12-20
DOID:9007974	Torus Palatinus and Torus Mandibularis	skos:exactMatch	MIM:189700	TORUS PALATINUS AND TORUS MANDIBULARIS	semapv:ManualMappingCuration	
DOID:9007975	Broad Terminal Phalanges, Familial	skos:exactMatch	MIM:602071	BROAD TERMINAL PHALANGES, FAMILIAL	semapv:ManualMappingCuration	
DOID:9007977	Asymmetric Short Stature Syndrome	skos:exactMatch	MIM:108450	ASYMMETRIC SHORT STATURE SYNDROME	semapv:ManualMappingCuration	
DOID:9007978	Grange Syndrome	skos:exactMatch	MIM:602531	Grange syndrome	semapv:ManualMappingCuration	2017-10-10
DOID:9007979	Isolated Microphthalmia with Corectopia	skos:exactMatch	MIM:156900	MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA	semapv:ManualMappingCuration	2022-11-21
DOID:9007983	Cranial Nerves, Congenital Paresis of	skos:exactMatch	MIM:218100	CRANIAL NERVES, CONGENITAL PARESIS OF	semapv:ManualMappingCuration	
DOID:9007984	Fleck Retina of Kandori	skos:exactMatch	MIM:228990	FLECK RETINA OF KANDORI	semapv:ManualMappingCuration	
DOID:9007986	NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION	skos:exactMatch	MIM:620515	Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction	semapv:ManualMappingCuration	2023-11-09
DOID:9007987	NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION	skos:exactMatch	MIM:620089	Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction	semapv:ManualMappingCuration	2022-12-13
DOID:9007991	Hereditary Angioedema 8	skos:exactMatch	MIM:619367	?Angioedema, hereditary, 8	semapv:ManualMappingCuration	2021-08-10
DOID:9007992	Hyperphosphatemic Familial Tumoral Calcinosis 1	skos:exactMatch	MIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9007997	Mental Retardation Syndrome, Belgian Type	skos:exactMatch	MIM:249599	INTELLECTUAL DEVELOPMENTAL DISORDER, BELGIAN TYPE	semapv:ManualMappingCuration	
DOID:9008	psoriatic arthritis	skos:exactMatch	MIM:607507	{Psoriatic arthritis, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9008002	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME	skos:exactMatch	MIM:619311	Hiatt-Neu-Cooper neurodevelopmental syndrome	semapv:ManualMappingCuration	2021-06-17
DOID:9008004	Aicardi-Goutieres Syndrome 3	skos:exactMatch	MIM:610329	Aicardi-Goutieres syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:9008008	Myxomatous Mitral Valve Prolapse 1	skos:exactMatch	MIM:157700	Mitral valve prolapse, myxomatous 1	semapv:ManualMappingCuration	2014-06-23
DOID:9008009	Gigantomastia	skos:exactMatch	MIM:113670	HYPERTROPHY OF THE BREAST, JUVENILE	semapv:ManualMappingCuration	
DOID:9008011	Prostate Cancer, Hereditary, X-Linked 2	skos:exactMatch	MIM:300704	{Prostate cancer, hereditary, X-linked 2}	semapv:ManualMappingCuration	2017-10-03
DOID:9008019	CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY	skos:exactMatch	MIM:620469	Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay	semapv:ManualMappingCuration	2023-09-14
DOID:9008021	Familial Atrial Fibrillation 10	skos:exactMatch	MIM:614022	Atrial fibrillation, familial, 10	semapv:ManualMappingCuration	2014-09-02
DOID:9008024	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1	skos:exactMatch	MIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	semapv:ManualMappingCuration	2017-03-07
DOID:9008025	Priapism, Familial Idiopathic	skos:exactMatch	MIM:176620	PRIAPISM, FAMILIAL IDIOPATHIC	semapv:ManualMappingCuration	2017-10-03
DOID:9008026	Myopia 3	skos:exactMatch	MIM:603221	Myopia-3	semapv:ManualMappingCuration	2017-10-03
DOID:9008027	Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract	skos:exactMatch	MIM:106230	ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT	semapv:ManualMappingCuration	
DOID:9008028	Visceral Heterotaxy 10, Autosomal	skos:exactMatch	MIM:619607	Heterotaxy, visceral, 10, autosomal, with male infertility	semapv:ManualMappingCuration	2021-11-09
DOID:9008031	Ataxia-Microcephaly-Cataract Syndrome	skos:exactMatch	MIM:208870	ATAXIA-MICROCEPHALY-CATARACT SYNDROME	semapv:ManualMappingCuration	
DOID:9008032	Gracile Bone Dysplasia	skos:exactMatch	MIM:602361	Gracile bone dysplasia	semapv:ManualMappingCuration	2014-10-20
DOID:9008033	Agammaglobulinemia, Microcephaly, and Severe Dermatitis	skos:exactMatch	MIM:610483	AGAMMAGLOBULINEMIA, MICROCEPHALY, AND SEVERE DERMATITIS	semapv:ManualMappingCuration	
DOID:9008036	Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps	skos:exactMatch	MIM:155145	CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA	semapv:ManualMappingCuration	
DOID:9008037	Paragangliomas 4	skos:exactMatch	MIM:115310	Pheochromocytoma/paraganglioma syndrome 4	semapv:ManualMappingCuration	2014-06-23
DOID:9008045	Pachyonychia Congenita Recessive	skos:exactMatch	MIM:260130	PACHYONYCHIA CONGENITA, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	2019-03-26
DOID:9008049	Corneal Dystrophy, Fuchs Endothelial, 3	skos:exactMatch	MIM:613267	Corneal dystrophy, Fuchs endothelial, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9008051	Luscan-Lumish Syndrome	skos:exactMatch	MIM:616831	Luscan-Lumish syndrome	semapv:ManualMappingCuration	2016-03-11
DOID:9008053	Embryonal Rhabdomyosarcoma 2	skos:exactMatch	MIM:180295	Rhabdomyosarcoma, embryonal, 2	semapv:ManualMappingCuration	2017-10-10
DOID:9008054	JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA	skos:exactMatch	MIM:620232	?Joint contracture, osteochondromas, and B-cell lymphoma	semapv:ManualMappingCuration	2023-04-28
DOID:9008060	Ulnar/Fibular Ray Defect and Brachydactyly	skos:exactMatch	MIM:608571	ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY	semapv:ManualMappingCuration	
DOID:9008061	Ciliary Dyskinesia with Transposition of Ciliary Microtubules	skos:exactMatch	MIM:215520	CILIARY DYSKINESIA WITH TRANSPOSITION OF CILIARY MICROTUBULES	semapv:ManualMappingCuration	
DOID:9008062	Hypogonadism with Low-Grade Mental Deficiency and Microcephaly	skos:exactMatch	MIM:241000	HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY	semapv:ManualMappingCuration	
DOID:9008066	Posterior Choanal Atresia	skos:exactMatch	MIM:608911	CHOANAL ATRESIA, POSTERIOR	semapv:ManualMappingCuration	2018-08-21
DOID:9008068	Hyperbiliverdinemia	skos:exactMatch	MIM:614156	Hyperbiliverdinemia	semapv:ManualMappingCuration	2014-09-09
DOID:9008070	Short-Rib Thoracic Dysplasia 21 without Polydactyly	skos:exactMatch	MIM:619479	Short-rib thoracic dysplasia 21 without polydactyly	semapv:ManualMappingCuration	2021-08-25
DOID:9008073	PORETTI-BOLTSHAUSER SYNDROME	skos:exactMatch	MIM:615960	Poretti-Boltshauser syndrome	semapv:ManualMappingCuration	2017-03-30
DOID:9008077	Aase Smith Syndrome	skos:exactMatch	MIM:147800	AASE-SMITH SYNDROME I	semapv:ManualMappingCuration	2022-12-05
DOID:9008084	Metaphyseal Chondrodysplasia, Pena Type	skos:exactMatch	MIM:250300	METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE	semapv:ManualMappingCuration	
DOID:9008085	Cataracts, Ataxia, Short Stature, and Mental Retardation	skos:exactMatch	MIM:300619	CATARACT, ATAXIA, SHORT STATURE, AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9008087	Chromosome 18 Pericentric Inversion	skos:exactMatch	MIM:609334	Chromosome 18 pericentric inversion	semapv:ManualMappingCuration	
DOID:9008093	Immunodeficiency 81	skos:exactMatch	MIM:619374	Immunodeficiency 81	semapv:ManualMappingCuration	2021-06-23
DOID:9008094	Multifocal Fibrosclerosis	skos:exactMatch	MIM:228800	FIBROSCLEROSIS, MULTIFOCAL	semapv:ManualMappingCuration	
DOID:9008096	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS	skos:exactMatch	MIM:301072	Neurodevelopmental disorder with epilepsy and hemochromatosis	semapv:ManualMappingCuration	2022-06-30
DOID:9008099	Granulosis Rubra Nasi	skos:exactMatch	MIM:139000	GRANULOSIS RUBRA NASI	semapv:ManualMappingCuration	
DOID:9008101	Flynn Aird Syndrome	skos:exactMatch	MIM:136300	FLYNN-AIRD SYNDROME	semapv:ManualMappingCuration	2018-04-16
DOID:9008107	Microcephaly with Mental Retardation and Digital Anomalies	skos:exactMatch	MIM:251255	Jawad syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9008112	Ventricular Fibrillation, Paroxysmal Familial, 1	skos:exactMatch	MIM:603829	Ventricular fibrillation, familial, 1	semapv:ManualMappingCuration	2017-04-04
DOID:9008114	Helicobacter Infections	skos:exactMatch	MIM:600263	{H. pylori infection, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9008118	Neuraminidase Deficiency	skos:exactMatch	MIM:256550	Sialidosis, type II	semapv:ManualMappingCuration	2017-10-03
DOID:9008119	Vertebral, Cardiac, Renal, and Limb Defects Syndromes	skos:exactMatch	MIM:PS617660	Vertebral, cardiac, renal, and limb defects syndrome 1	semapv:ManualMappingCuration	2020-05-07
DOID:9008121	Lipoyltransferase 1 Deficiency	skos:exactMatch	MIM:616299	Lipoyltransferase 1 deficiency	semapv:ManualMappingCuration	
DOID:9008122	ISOLATED HYPERFERRITINEMIA	skos:exactMatch	MIM:620729	[Hyperferritinemia]	semapv:ManualMappingCuration	2024-05-23
DOID:9008123	Bleeding Disorder, Vascular-Type	skos:exactMatch	MIM:620715	?Bleeding disorder, vascular-type	semapv:ManualMappingCuration	2024-02-19
DOID:9008124	Congenital Absence of Gluteal Muscles	skos:exactMatch	MIM:231970	GLUTEAL MUSCLES, ABSENCE OF	semapv:ManualMappingCuration	
DOID:9008126	Cerebellar, Ocular, Craniofacial, and Genital Syndrome	skos:exactMatch	MIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	semapv:ManualMappingCuration	2019-09-10
DOID:9008128	NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM	skos:exactMatch	MIM:620719	Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism	semapv:ManualMappingCuration	2024-03-04
DOID:9008131	Parietal Foramina 2	skos:exactMatch	MIM:609597	Parietal foramina 2	semapv:ManualMappingCuration	2017-10-03
DOID:9008132	Brittle Bone Disorder	skos:exactMatch	MIM:603828	BRITTLE BONE DISORDER	semapv:ManualMappingCuration	
DOID:9008133	Glaucoma 1, Open Angle, G	skos:exactMatch	MIM:609887	Glaucoma 1, open angle, G	semapv:ManualMappingCuration	2017-10-03
DOID:9008136	Pilarowski-Bjornsson Syndrome	skos:exactMatch	MIM:617682	Pilarowski-Bjornsson syndrome	semapv:ManualMappingCuration	2017-12-06
DOID:9008137	Apical Hypertrophic Cardiomyopathy and Neuropathy	skos:exactMatch	MIM:516070	null	semapv:ManualMappingCuration	2015-07-14
DOID:9008140	CAHMR Syndrome	skos:exactMatch	MIM:211770	CAHMR SYNDROME	semapv:ManualMappingCuration	2022-11-21
DOID:9008145	Retinitis Pigmentosa 95	skos:exactMatch	MIM:620102	Retinitis pigmentosa 95	semapv:ManualMappingCuration	2022-10-27
DOID:9008146	Alopecia, Epilepsy, Pyorrhea, Mental Subnormality	skos:exactMatch	MIM:104130	ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY	semapv:ManualMappingCuration	
DOID:9008147	Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma	skos:exactMatch	MIM:618373	?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	semapv:ManualMappingCuration	2019-04-01
DOID:9008148	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D	skos:exactMatch	MIM:620780	Cutis laxa, autosomal recessive, type ID	semapv:ManualMappingCuration	2024-05-10
DOID:9008149	Conductive Deafness with Ptosis and Skeletal Anomalies	skos:exactMatch	MIM:221320	DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES	semapv:ManualMappingCuration	
DOID:9008150	Ataxia, Deafness, and Cardiomyopathy	skos:exactMatch	MIM:208750	ATAXIA, DEAFNESS, AND CARDIOMYOPATHY	semapv:ManualMappingCuration	
DOID:9008153	XK Aprosencephaly	skos:exactMatch	MIM:207770	APROSENCEPHALY SYNDROME	semapv:ManualMappingCuration	
DOID:9008164	INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS	skos:exactMatch	MIM:620007	Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects	semapv:ManualMappingCuration	2022-12-09
DOID:9008167	Choreoathetosis, Familial Inverted	skos:exactMatch	MIM:118750	CHOREOATHETOSIS, FAMILIAL INVERTED	semapv:ManualMappingCuration	
DOID:9008168	Familial Anomalous Origin of Right Pulmonary Artery	skos:exactMatch	MIM:610338	RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL	semapv:ManualMappingCuration	
DOID:9008169	Cavernous Transformation of Portal Vein	skos:exactMatch	MIM:601004	PORTAL VEIN, CAVERNOUS TRANSFORMATION OF	semapv:ManualMappingCuration	
DOID:9008170	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	skos:exactMatch	MIM:613330	Spondylo-megaepiphyseal-metaphyseal dysplasia	semapv:ManualMappingCuration	2017-10-03
DOID:9008171	Progeroid Facial Appearance with Hand Anomalies	skos:exactMatch	MIM:602249	PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES	semapv:ManualMappingCuration	
DOID:9008174	Zimmermann-Laband Syndrome 2	skos:exactMatch	MIM:616455	Zimmermann-Laband syndrome 2	semapv:ManualMappingCuration	2017-10-10
DOID:9008175	Hereditary Diffuse Leukoencephalopathy with Spheroids 2	skos:exactMatch	MIM:619661	?Leukoencephalopathy, hereditary diffuse, with spheroids 2	semapv:ManualMappingCuration	2022-01-06
DOID:9008177	Pashayan Syndrome	skos:exactMatch	MIM:110050	BLEPHARONASOFACIAL MALFORMATION SYNDROME	semapv:ManualMappingCuration	2022-11-29
DOID:9008180	Hydroxylysinuria	skos:exactMatch	MIM:236900	HYDROXYLYSINURIA	semapv:ManualMappingCuration	2022-12-06
DOID:9008186	Hypercarotenemia and Vitamin A Deficiency, Autosomal Recessive	skos:exactMatch	MIM:277350	HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	2020-12-08
DOID:9008187	Primary Ovarian Insufficiency 22	skos:exactMatch	MIM:620548	Premature ovarian failure 22	semapv:ManualMappingCuration	2023-10-24
DOID:9008190	Hypochromic Microcytic Anemia with Iron Overload 2	skos:exactMatch	MIM:615234	?Anemia, hypochromic microcytic, with iron overload 2	semapv:ManualMappingCuration	2014-09-09
DOID:9008196	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	skos:exactMatch	MIM:608432	CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM	semapv:ManualMappingCuration	
DOID:9008197	Familial Atrial Fibrillation 3	skos:exactMatch	MIM:607554	Atrial fibrillation, familial, 3	semapv:ManualMappingCuration	2017-10-03
DOID:9008199	Pelvis-Shoulder Dysplasia	skos:exactMatch	MIM:169550	PELVIS-SHOULDER DYSPLASIA	semapv:ManualMappingCuration	
DOID:9008200	Megalencephaly-Polydactyly Syndrome	skos:exactMatch	MIM:620748	Megalencephaly-polydactyly syndrome	semapv:ManualMappingCuration	2024-03-18
DOID:9008202	WT Limb Blood Syndrome	skos:exactMatch	MIM:194350	WT LIMB-BLOOD SYNDROME	semapv:ManualMappingCuration	
DOID:9008203	Lubinsky Syndrome	skos:exactMatch	MIM:240950	HYPOGONADISM-CATARACT SYNDROME	semapv:ManualMappingCuration	
DOID:9008205	Macrostomia	skos:exactMatch	MIM:613545	Macrostomia	semapv:ManualMappingCuration	2017-10-03
DOID:9008211	Valinemia	skos:exactMatch	MIM:277100	VALINEMIA	semapv:ManualMappingCuration	2022-12-06
DOID:9008213	Paragangliomas 7	skos:exactMatch	MIM:618475	Pheochromocytoma/paraganglioma syndrome 7	semapv:ManualMappingCuration	2019-06-25
DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive	skos:exactMatch	MIM:606529	CRANIOSYNOSTOSIS SYNDROME, AUTOSOMAL RECESSIVE	semapv:ManualMappingCuration	
DOID:9008218	Carey-Fineman-Ziter Syndrome 1	skos:exactMatch	MIM:254940	Carey-Fineman-Ziter syndrome	semapv:ManualMappingCuration	2018-08-22
DOID:9008222	Usher Syndrome Type 1M	skos:exactMatch	MIM:618632	?Usher syndrome, type 1M	semapv:ManualMappingCuration	2019-10-23
DOID:9008224	Stratton-Parker Syndrome	skos:exactMatch	MIM:185120	STRATTON-PARKER SYNDROME	semapv:ManualMappingCuration	2022-11-08
DOID:9008228	Forsythe-Wakeling Syndrome	skos:exactMatch	MIM:613606	Forsythe-Wakeling syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:9008229	Recurrent Myoglobinuria	skos:exactMatch	MIM:550500	MYOGLOBINURIA, RECURRENT	semapv:ManualMappingCuration	2018-08-22
DOID:9008230	Lymphatic Malformation 13	skos:exactMatch	MIM:620244	Lymphatic malformation 13	semapv:ManualMappingCuration	2023-02-13
DOID:9008233	Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	skos:exactMatch	MIM:271520	SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES	semapv:ManualMappingCuration	2022-10-31
DOID:9008234	Distal Arthrogryposis Type 12	skos:exactMatch	MIM:620545	Arthrogryposis, distal, type 12	semapv:ManualMappingCuration	2023-10-24
DOID:9008235	Tyrosinosis	skos:exactMatch	MIM:276800	TYROSINOSIS	semapv:ManualMappingCuration	2018-11-13
DOID:9008236	Ritscher-Schinzel Syndrome 3	skos:exactMatch	MIM:619135	Ritscher-Schinzel syndrome 3	semapv:ManualMappingCuration	2021-01-04
DOID:9008238	Dincsoy Salih Patel Syndrome	skos:exactMatch	MIM:601016	MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM	semapv:ManualMappingCuration	
DOID:9008239	Preeclampsia/Eclampsia 4	skos:exactMatch	MIM:609404	Preeclampsia/eclampsia 4	semapv:ManualMappingCuration	2017-10-03
DOID:9008242	Pachyonychia Congenita 1	skos:exactMatch	MIM:167200	Pachyonychia congenita 1	semapv:ManualMappingCuration	2017-10-03
DOID:9008243	Pyruvate Dehydrogenase E2 Deficiency	skos:exactMatch	MIM:245348	Pyruvate dehydrogenase E2 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9008248	Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction	skos:exactMatch	MIM:617732	?Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	semapv:ManualMappingCuration	2017-12-04
DOID:9008249	Bifid or Double Ureter	skos:exactMatch	MIM:191550	URETER, BIFID OR DOUBLE	semapv:ManualMappingCuration	
DOID:9008250	Leukoencephalopathy with Ataxia	skos:exactMatch	MIM:615651	Leukoencephalopathy with ataxia	semapv:ManualMappingCuration	2014-09-09
DOID:9008255	Cognitive Impairment with or Without Cerebellar Ataxia	skos:exactMatch	MIM:614306	Cognitive impairment with or without cerebellar ataxia	semapv:ManualMappingCuration	2014-09-09
DOID:9008257	Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal	skos:exactMatch	MIM:175510	Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial	semapv:ManualMappingCuration	
DOID:9008260	Multiple Epiphyseal Dysplasia with Miniepiphyses	skos:exactMatch	MIM:609325	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES	semapv:ManualMappingCuration	
DOID:9008262	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED	skos:exactMatch	MIM:301041	Wieacker-Wolff syndrome, female-restricted	semapv:ManualMappingCuration	2020-08-20
DOID:9008263	Paroxysmal Nocturnal Hemoglobinuria 2	skos:exactMatch	MIM:615399	?Paroxysmal nocturnal hemoglobinuria 2	semapv:ManualMappingCuration	2014-09-09
DOID:9008266	Neuhauser Syndrome	skos:exactMatch	MIM:249310	NEUHAUSER SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9008270	Braddock Carey Syndrome	skos:exactMatch	MIM:PS619980	Braddock-Carey syndrome 1	semapv:ManualMappingCuration	2022-08-02
DOID:9008272	Acid-Labile Subunit Deficiency	skos:exactMatch	MIM:615961	Acid-labile subunit, deficiency of	semapv:ManualMappingCuration	2017-02-14
DOID:9008273	Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia	skos:exactMatch	MIM:608809	LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA	semapv:ManualMappingCuration	2022-11-14
DOID:9008274	Bethlem Myopathy 1C	skos:exactMatch	MIM:620726	Bethlem myopathy 1C	semapv:ManualMappingCuration	2024-03-18
DOID:9008275	Oroacral Syndrome, Verloes-Koulischer Type	skos:exactMatch	MIM:603446	OROACRAL SYNDROME, VERLOES-KOULISCHER TYPE	semapv:ManualMappingCuration	
DOID:9008278	Preeclampsia/Eclampsia 3	skos:exactMatch	MIM:609403	Preeclampsia/eclampsia 3	semapv:ManualMappingCuration	2017-10-03
DOID:9008279	Progressive Familial Intrahepatic Cholestasis 11	skos:exactMatch	MIM:619874	?Cholestasis, progressive familial intrahepatic, 11	semapv:ManualMappingCuration	2022-05-11
DOID:9008281	Factor XIII, B Subunit, Deficiency Of	skos:exactMatch	MIM:613235	Factor XIIIB deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9008282	Diastolic Hypertension, Resistance to	skos:exactMatch	MIM:608622	{Hypertension, diastolic, resistance to}	semapv:ManualMappingCuration	2017-10-03
DOID:9008283	Selective Tooth Agenesis 7	skos:exactMatch	MIM:616724	Tooth agenesis, selective, 7	semapv:ManualMappingCuration	2016-01-15
DOID:9008287	Gomez Lopez Hernandez Syndrome	skos:exactMatch	MIM:601853	GOMEZ-LOPEZ-HERNANDEZ SYNDROME	semapv:ManualMappingCuration	2017-10-03
DOID:9008288	Visceral Heterotaxy 5, Autosomal	skos:exactMatch	MIM:270100	Heterotaxy, visceral, 5	semapv:ManualMappingCuration	2014-06-23
DOID:9008289	Tiglic Acidemia	skos:exactMatch	MIM:275190	TIGLIC ACIDEMIA	semapv:ManualMappingCuration	2022-11-08
DOID:9008292	Dystonia with Cerebellar Atrophy	skos:exactMatch	MIM:611694	DYSTONIA WITH CEREBELLAR ATROPHY	semapv:ManualMappingCuration	
DOID:9008295	Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies	skos:exactMatch	MIM:251700	MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA, AND DENTAL ANOMALIES	semapv:ManualMappingCuration	
DOID:9008298	Pulmonary Atresia with Ventricular Septal Defect	skos:exactMatch	MIM:178370	PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT	semapv:ManualMappingCuration	
DOID:9008302	Hereditary Vertical Nystagmus	skos:exactMatch	MIM:164150	NYSTAGMUS, HEREDITARY VERTICAL	semapv:ManualMappingCuration	
DOID:9008303	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES	skos:exactMatch	MIM:620790	Neurodevelopmental disorder with hypotonia and seizures	semapv:ManualMappingCuration	2024-05-28
DOID:9008304	Familial Multiple Coagulation Factor Deficiency V	skos:exactMatch	MIM:134520	FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF	semapv:ManualMappingCuration	
DOID:9008308	Poor Drug Metabolism, CYP2C19-Related	skos:exactMatch	MIM:609535	Clopidogrel, impaired responsiveness to	semapv:ManualMappingCuration	2017-10-03
DOID:9008312	Rombo Syndrome	skos:exactMatch	MIM:180730	ROMBO SYNDROME	semapv:ManualMappingCuration	
DOID:9008314	Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant	skos:exactMatch	MIM:605827	BASALOID FOLLICULAR HAMARTOMA SYNDROME, GENERALIZED, AUTOSOMAL DOMINANT	semapv:ManualMappingCuration	
DOID:9008315	Dilated Cardiomyopathy 2H	skos:exactMatch	MIM:620203	?Cardiomyopathy, dilated, 2H	semapv:ManualMappingCuration	2023-01-18
DOID:9008316	Microphthalmia/Coloboma  1	skos:exactMatch	MIM:300345	Microphthalmia with coloboma 1	semapv:ManualMappingCuration	2017-10-03
DOID:9008319	Purpura Simplex	skos:exactMatch	MIM:179000	PURPURA SIMPLEX	semapv:ManualMappingCuration	2022-11-21
DOID:9008320	Craniosynostosis with Fibular Aplasia	skos:exactMatch	MIM:218550	CRANIOSYNOSTOSIS WITH FIBULAR APLASIA	semapv:ManualMappingCuration	
DOID:9008323	Epilepsy Telangiectasia	skos:exactMatch	MIM:226850	EPILEPSY-TELANGIECTASIA	semapv:ManualMappingCuration	
DOID:9008324	Congenital Indifference to Pain, Autosomal Recessive	skos:exactMatch	MIM:243000	Insensitivity to pain, congenital	semapv:ManualMappingCuration	2017-10-03
DOID:9008325	Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death	skos:exactMatch	MIM:610001	ARTHROGRYPOSIS MULTIPLEX WITH DEAFNESS, INGUINAL HERNIAS, AND EARLY DEATH	semapv:ManualMappingCuration	
DOID:9008326	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES	skos:exactMatch	MIM:620502	Neurodevelopmental disorder with language delay and variable cognitive abnormalities	semapv:ManualMappingCuration	2024-06-14
DOID:9008328	Familial Osteoma of Cranial Vault	skos:exactMatch	MIM:603600	OSTEOMA OF CRANIAL VAULT, FAMILIAL	semapv:ManualMappingCuration	
DOID:9008332	Palmoplantar Keratoderma, Spastic Paralysis	skos:exactMatch	MIM:148360	KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY	semapv:ManualMappingCuration	
DOID:9008333	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3	skos:exactMatch	MIM:618845	Vertebral, cardiac, renal, and limb defects syndrome 3	semapv:ManualMappingCuration	2020-05-07
DOID:9008334	Striatonigral Degeneration, Infantile	skos:exactMatch	MIM:271930	Striatonigral degeneration, infantile	semapv:ManualMappingCuration	2017-10-03
DOID:9008338	Split-Foot Malformation with Mesoaxial Polydactyly	skos:exactMatch	MIM:616890	Split-foot malformation with mesoaxial polydactyly	semapv:ManualMappingCuration	2016-04-19
DOID:9008340	Combined Pituitary Hormone Deficiency 2	skos:exactMatch	MIM:262600	Pituitary hormone deficiency, combined, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9008341	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY	skos:exactMatch	MIM:619221	Sulfide:quinone oxidoreductase deficiency	semapv:ManualMappingCuration	2021-04-16
DOID:9008342	Johnson Munson Syndrome	skos:exactMatch	MIM:207620	APHALANGY WITH HEMIVERTEBRAE	semapv:ManualMappingCuration	2020-12-11
DOID:9008343	Camptodactyly Syndrome Guadalajara Type 3	skos:exactMatch	MIM:611929	CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III	semapv:ManualMappingCuration	2022-11-29
DOID:9008346	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY	skos:exactMatch	MIM:617296	Spastic paraplegia, intellectual disability, nystagmus, and obesity	semapv:ManualMappingCuration	2017-04-06
DOID:9008349	NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT	skos:exactMatch	MIM:620306	Neurodegeneration and seizures due to copper transport defect	semapv:ManualMappingCuration	2023-06-20
DOID:9008354	Secretory Component Deficiency	skos:exactMatch	MIM:269650	SECRETORY COMPONENT DEFICIENCY	semapv:ManualMappingCuration	2018-08-21
DOID:9008355	Adrenocortical Hypofunction, Chronic Primary Congenital	skos:exactMatch	MIM:103230	ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL	semapv:ManualMappingCuration	2018-08-21
DOID:9008357	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related	skos:exactMatch	MIM:PS614742	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1	semapv:ManualMappingCuration	2019-03-19
DOID:9008363	GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	skos:exactMatch	MIM:618330	Global developmental delay with or without impaired intellectual development	semapv:ManualMappingCuration	2019-07-09
DOID:9008364	Visceral Heterotaxy 7, Autosomal	skos:exactMatch	MIM:616749	Heterotaxy, visceral, 7, autosomal	semapv:ManualMappingCuration	2017-10-10
DOID:9008365	Pseudoacromegaly with Severe Insulin Resistance	skos:exactMatch	MIM:602511	PSEUDOACROMEGALY WITH SEVERE INSULIN RESISTANCE	semapv:ManualMappingCuration	
DOID:9008368	Bird Headed Dwarfism Montreal Type	skos:exactMatch	MIM:210700	MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE	semapv:ManualMappingCuration	
DOID:9008369	Pseudomonilethrix	skos:exactMatch	MIM:177750	PSEUDOMONILETHRIX	semapv:ManualMappingCuration	
DOID:9008370	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY	skos:exactMatch	MIM:618569	Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	semapv:ManualMappingCuration	2023-01-03
DOID:9008371	Carnitine Acetyltransferase Deficiency	skos:exactMatch	MIM:606175	CARNITINE ACETYLTRANSFERASE DEFICIENCY	semapv:ManualMappingCuration	
DOID:9008376	Brachydactylous Dwarfism Mseleni Type	skos:exactMatch	MIM:613342	MSELENI JOINT DISEASE	semapv:ManualMappingCuration	
DOID:9008379	Say Field Coldwell Syndrome	skos:exactMatch	MIM:190650	TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA	semapv:ManualMappingCuration	
DOID:9008380	Radial Ray Deficiency, X-Linked	skos:exactMatch	MIM:300378	Radial ray deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9008383	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6	skos:exactMatch	MIM:620796	Proteasome-associated autoinflammatory syndrome 6	semapv:ManualMappingCuration	2024-06-17
DOID:9008386	Hydrops Fetalis	skos:exactMatch	MIM:236750	HYDROPS FETALIS, NONIMMUNE	semapv:ManualMappingCuration	2017-10-03
DOID:9008387	Selective Tooth Agenesis 9	skos:exactMatch	MIM:617275	Tooth agenesis, selective, 9	semapv:ManualMappingCuration	2017-04-19
DOID:9008388	Trigonocephaly 1	skos:exactMatch	MIM:190440	Trigonocephaly 1	semapv:ManualMappingCuration	2014-06-23
DOID:9008389	Dentin Dysplasia, Type 2	skos:exactMatch	MIM:125420	Dentin dysplasia, type II	semapv:ManualMappingCuration	2014-06-23
DOID:9008396	Erythropoietic Protoporphyria, X-Linked Dominant	skos:exactMatch	MIM:300752	Protoporphyria, erythropoietic, X-linked	semapv:ManualMappingCuration	2014-06-23
DOID:9008399	FINCA Syndrome	skos:exactMatch	MIM:618278	FINCA syndrome	semapv:ManualMappingCuration	2019-02-13
DOID:9008400	Oculocerebral Hypopigmentation Syndrome Type Preus	skos:exactMatch	MIM:257790	OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS	semapv:ManualMappingCuration	2022-12-05
DOID:9008400	Oculocerebral Hypopigmentation Syndrome Type Preus	skos:exactMatch	MIM:257800	OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION	semapv:ManualMappingCuration	
DOID:9008401	Herpes Simplex Encephalitis 4	skos:exactMatch	MIM:614850	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}	semapv:ManualMappingCuration	2014-09-09
DOID:9008402	Cyprus Facial Neuromusculoskeletal Syndrome	skos:exactMatch	MIM:123853	CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME	semapv:ManualMappingCuration	
DOID:9008403	Combined Pituitary Hormone Deficiency 4	skos:exactMatch	MIM:262700	Pituitary hormone deficiency, combined, 4	semapv:ManualMappingCuration	2017-10-03
DOID:9008405	Mitochondrial Complex II Deficiency Nuclear Type 2	skos:exactMatch	MIM:619166	Mitochondrial complex II deficiency, nuclear type 2	semapv:ManualMappingCuration	2021-02-01
DOID:9008406	Congenital Deafness and Familial Myoclonic Epilepsy	skos:exactMatch	MIM:220300	DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY	semapv:ManualMappingCuration	
DOID:9008407	ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED	skos:exactMatch	MIM:300643	?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia	semapv:ManualMappingCuration	2017-10-03
DOID:9008408	Mesomelic Limb Shortening and Bowing	skos:exactMatch	MIM:249710	MESOMELIC LIMB SHORTENING AND BOWING	semapv:ManualMappingCuration	
DOID:9008409	Pelvic Organ Prolapse	skos:exactMatch	MIM:176780	{Pelvic organ prolapse, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:9008409	Pelvic Organ Prolapse	skos:exactMatch	MIM:613088	{Pelvic organ prolapse, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:9008410	Autoinflammation with Infantile Enterocolitis	skos:exactMatch	MIM:616050	Autoinflammation with infantile enterocolitis	semapv:ManualMappingCuration	2014-11-21
DOID:9008412	Polyarteritis Nodosa, Childhood-Onset	skos:exactMatch	MIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9008415	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY	skos:exactMatch	MIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency	semapv:ManualMappingCuration	2024-01-29
DOID:9008417	Pruritus, Hereditary Localized	skos:exactMatch	MIM:177100	PRURITUS, HEREDITARY LOCALIZED	semapv:ManualMappingCuration	2022-11-21
DOID:9008420	Familial Erythroleukemia	skos:exactMatch	MIM:133180	{?Erythroleukemia, familial, susceptibility to}	semapv:ManualMappingCuration	
DOID:9008422	Nanophthalmos 4	skos:exactMatch	MIM:615972	Nanophthalmos 4	semapv:ManualMappingCuration	2017-03-29
DOID:9008426	Focal Cortical Dysplasia of Taylor	skos:exactMatch	MIM:607341	?Focal cortical dysplasia, type II, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:9008428	Mid-Tone Neural Deafness	skos:exactMatch	MIM:124700	DEAFNESS, MID-TONE NEURAL	semapv:ManualMappingCuration	
DOID:9008431	Internal Carotid Artery, Spontaneous Dissection of	skos:exactMatch	MIM:147820	INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF	semapv:ManualMappingCuration	
DOID:9008433	Myopia 19, Autosomal Dominant	skos:exactMatch	MIM:613969	Myopia 19	semapv:ManualMappingCuration	2014-06-23
DOID:9008438	Glanzmann Thrombasthenia 2	skos:exactMatch	MIM:619267	Glanzmann thrombasthenia 2	semapv:ManualMappingCuration	2021-04-14
DOID:9008441	Preeclampsia/Eclampsia 5	skos:exactMatch	MIM:614595	Preeclampsia/eclampsia 5	semapv:ManualMappingCuration	2014-09-09
DOID:9008442	Myopia 24, Autosomal Dominant	skos:exactMatch	MIM:615946	Myopia 24, autosomal dominant	semapv:ManualMappingCuration	2017-03-29
DOID:9008447	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY	skos:exactMatch	MIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	semapv:ManualMappingCuration	2017-12-04
DOID:9008448	YUKSEL-VOGEL-BAUER SYNDROME	skos:exactMatch	MIM:620703	Yuksel-Vogel-Bauser syndrome	semapv:ManualMappingCuration	2024-03-26
DOID:9008451	Thrombocytopenia 10	skos:exactMatch	MIM:620484	Thrombocytopenia 10	semapv:ManualMappingCuration	2023-09-01
DOID:9008453	Dysphoric Cerebral Angiopathy	skos:exactMatch	MIM:213500	CEREBRAL ANGIOPATHY, DYSPHORIC	semapv:ManualMappingCuration	2022-11-29
DOID:9008454	Trichoepithelioma, Multiple Familial, 2	skos:exactMatch	MIM:612099	Trichoepithelioma, multiple familial, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9008457	Thrombocytopenia 7	skos:exactMatch	MIM:619130	Thrombocytopenia, autosomal dominant, 7	semapv:ManualMappingCuration	2021-01-04
DOID:9008458	Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease	skos:exactMatch	MIM:182875	SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND TRANSVERSE EARLOBE CREASE	semapv:ManualMappingCuration	2020-10-12
DOID:9008461	Pancreas Agenesis, Dorsal	skos:exactMatch	MIM:167755	PANCREAS, DORSAL, AGENESIS OF	semapv:ManualMappingCuration	
DOID:9008465	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE	skos:exactMatch	MIM:618870	Skeletal dysplasia, mild, with joint laxity and advanced bone age	semapv:ManualMappingCuration	2020-08-20
DOID:9008466	Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum	skos:exactMatch	MIM:225040	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM	semapv:ManualMappingCuration	2022-12-06
DOID:9008467	Retinohepatoendocrinologic Syndrome	skos:exactMatch	MIM:268040	RETINOHEPATOENDOCRINOLOGIC SYNDROME	semapv:ManualMappingCuration	
DOID:9008470	Familial Atrial Fibrillation 2	skos:exactMatch	MIM:608988	Atrial fibrillation, familial, 2	semapv:ManualMappingCuration	2017-10-03
DOID:9008471	Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness	skos:exactMatch	MIM:250420	METAPHYSEAL DYSOSTOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND CONDUCTIVE DEAFNESS	semapv:ManualMappingCuration	
DOID:9008474	Beta-Aminoisobutyric Acid, Urinary Excretion of	skos:exactMatch	MIM:210100	[Beta-aminoisobutyric acid, urinary excretion of]	semapv:ManualMappingCuration	
DOID:9008475	Hemifacial Myohyperplasia	skos:exactMatch	MIM:606773	Hemifacial myohyperplasia, somatic	semapv:ManualMappingCuration	
DOID:9008476	Allergic Seminal Vulvovaginitis	skos:exactMatch	MIM:193450	VULVOVAGINITIS, ALLERGIC SEMINAL	semapv:ManualMappingCuration	2021-08-13
DOID:9008477	Faciocardiomelic Syndrome	skos:exactMatch	MIM:612731	FACIOCARDIOMELIC SYNDROME	semapv:ManualMappingCuration	2022-12-12
DOID:9008479	Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial	skos:exactMatch	MIM:500005	HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL	semapv:ManualMappingCuration	
DOID:9008480	Vesicoureteral Reflux 6	skos:exactMatch	MIM:614319	Vesicoureteral reflux 6	semapv:ManualMappingCuration	2015-11-11
DOID:9008483	Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta	skos:exactMatch	MIM:604922	CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA	semapv:ManualMappingCuration	
DOID:9008486	Neurovisceral Storage Disease with Curvilinear Bodies	skos:exactMatch	MIM:257000	NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES	semapv:ManualMappingCuration	
DOID:9008487	Glycinuria with or without Oxalate Urolithiasis	skos:exactMatch	MIM:138500	[Hyperglycinuria]	semapv:ManualMappingCuration	2014-06-23
DOID:9008488	Autosomal Recessive Intellectual Developmental Disorder 81	skos:exactMatch	MIM:620700	Intellectual developmental disorder, autosomal recessive 81	semapv:ManualMappingCuration	2024-02-05
DOID:9008491	Ulnar Hypoplasia with Mental Retardation	skos:exactMatch	MIM:276821	ULNAR HYPOPLASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	
DOID:9008495	Glaucoma 1, Open Angle, D	skos:exactMatch	MIM:602429	Glaucoma 1D, primary open angle	semapv:ManualMappingCuration	2017-10-03
DOID:9008496	Visceral Heterotaxy 4, Autosomal	skos:exactMatch	MIM:613751	Heterotaxy, visceral, 4, autosomal	semapv:ManualMappingCuration	2014-09-09
DOID:9008502	Anorchia	skos:exactMatch	MIM:273250	46XY sex reversal 11	semapv:ManualMappingCuration	
DOID:9008505	Juvenile Recurrent Parotitis	skos:exactMatch	MIM:603588	PAROTITIS, JUVENILE RECURRENT	semapv:ManualMappingCuration	
DOID:9008506	Autosomal Dominant Intellectual Developmental Disorder 65	skos:exactMatch	MIM:619320	Intellectual developmental disorder, autosomal dominant 65	semapv:ManualMappingCuration	2021-05-19
DOID:9008508	Weill-Marchesani Syndrome 4	skos:exactMatch	MIM:613195	Weill-Marchesani 4 syndrome, recessive	semapv:ManualMappingCuration	2017-10-03
DOID:9008509	Cone-Rod Dystrophy and Hearing Loss 2	skos:exactMatch	MIM:618358	Cone-rod dystrophy and hearing loss 2	semapv:ManualMappingCuration	2019-03-15
DOID:9008512	Craniomicromelic Syndrome	skos:exactMatch	MIM:602558	CRANIOMICROMELIC SYNDROME	semapv:ManualMappingCuration	
DOID:9008519	Polycystic Kidney, Cataract, and Congenital Blindness	skos:exactMatch	MIM:263100	POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS	semapv:ManualMappingCuration	
DOID:9008524	Odontoma Dysphagia Syndrome	skos:exactMatch	MIM:164330	ODONTOMA-DYSPHAGIA SYNDROME	semapv:ManualMappingCuration	
DOID:9008529	Diffuse Cerebral Sclerosis, Scholz Type	skos:exactMatch	MIM:302700	CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE	semapv:ManualMappingCuration	
DOID:9008530	Chlorpropamide-Alcohol Flushing	skos:exactMatch	MIM:118430	CHLORPROPAMIDE-ALCOHOL FLUSHING	semapv:ManualMappingCuration	2022-11-21
DOID:9008532	Dens in Dente and Palatal Invaginations	skos:exactMatch	MIM:125300	DENS IN DENTE AND PALATAL INVAGINATIONS	semapv:ManualMappingCuration	
DOID:9008533	Plasminogen Activator Inhibitor-1 Deficiency	skos:exactMatch	MIM:613329	Plasminogen activator inhibitor-1 deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9008534	Progressive Supranuclear Palsy Atypical	skos:exactMatch	MIM:260540	Supranuclear palsy, progressive atypical	semapv:ManualMappingCuration	2017-10-03
DOID:9008535	Secretory Diarrhea, Myopathy, and Deafness	skos:exactMatch	MIM:607540	SECRETORY DIARRHEA, MYOPATHY, AND DEAFNESS	semapv:ManualMappingCuration	2022-12-06
DOID:9008540	46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs	skos:exactMatch	MIM:611812	?SERKAL syndrome	semapv:ManualMappingCuration	2014-06-23
DOID:9008546	Rodrigues Blindness	skos:exactMatch	MIM:268320	RODRIGUES BLINDNESS	semapv:ManualMappingCuration	
DOID:9008547	Charcot-Marie-Tooth Disease Type 6B	skos:exactMatch	MIM:616505	Neuropathy, hereditary motor and sensory, type VIB	semapv:ManualMappingCuration	2017-03-30
DOID:9008548	Photoparoxysmal Response 1	skos:exactMatch	MIM:132100	Photoparoxysmal response 1	semapv:ManualMappingCuration	2014-06-23
DOID:9008549	Lipoprotein Glomerulopathy	skos:exactMatch	MIM:611771	Lipoprotein glomerulopathy	semapv:ManualMappingCuration	2017-10-03
DOID:9008554	Tessadori-van Haaften Neurodevelopmental Syndrome	skos:exactMatch	MIM:PS619758	Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1	semapv:ManualMappingCuration	2022-07-18
DOID:9008558	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY	skos:exactMatch	MIM:615511	Myopathy due to myoadenylate deaminase deficiency	semapv:ManualMappingCuration	2019-07-15
DOID:9008560	Pseudohyperkalemia, Familial, 2, due to Red Cell Leak	skos:exactMatch	MIM:185020	Cryohydrocytosis	semapv:ManualMappingCuration	2017-10-10
DOID:9008560	Pseudohyperkalemia, Familial, 2, due to Red Cell Leak	skos:exactMatch	MIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak	semapv:ManualMappingCuration	2017-10-03
DOID:9008562	Parotid Salivary Glands, Polycystic Disease of	skos:exactMatch	MIM:600343	PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF	semapv:ManualMappingCuration	
DOID:9008564	Retinal Dystrophy and Microvillus Inclusion Disease	skos:exactMatch	MIM:619446	Retinal dystrophy and microvillus inclusion disease	semapv:ManualMappingCuration	2021-07-27
DOID:9008567	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES	skos:exactMatch	MIM:619964	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	semapv:ManualMappingCuration	2022-12-06
DOID:9008568	Camptodactyly Syndrome Guadalajara Type 2	skos:exactMatch	MIM:211920	CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II	semapv:ManualMappingCuration	2020-06-01
DOID:9008571	Cone Dystrophy 4	skos:exactMatch	MIM:613093	Cone dystrophy 4	semapv:ManualMappingCuration	2017-10-03
DOID:9008572	Novak Syndrome	skos:exactMatch	MIM:215800	CLEFT LARYNX, POSTERIOR	semapv:ManualMappingCuration	
DOID:9008575	Olmsted Syndrome 2	skos:exactMatch	MIM:619208	Olmsted syndrome 2	semapv:ManualMappingCuration	2021-03-01
DOID:9008576	Wilms Tumor 2	skos:exactMatch	MIM:194071	Wilms tumor 2	semapv:ManualMappingCuration	2017-10-03
DOID:9008577	Factor V Excess with Spontaneous Thrombosis	skos:exactMatch	MIM:134400	FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS	semapv:ManualMappingCuration	
DOID:9008581	CAKUT3	skos:exactMatch	MIM:618270	?Congenital anomalies of kidney and urinary tract 3	semapv:ManualMappingCuration	2019-02-12
DOID:9008583	Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	skos:exactMatch	MIM:246500	LEUKOMELANODERMA, INFANTILISM, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPODONTIA, HYPOTRICHOSIS	semapv:ManualMappingCuration	
DOID:9008591	Setting-Sun Phenomenon, Familial Benign	skos:exactMatch	MIM:600598	SETTING-SUN PHENOMENON, FAMILIAL BENIGN	semapv:ManualMappingCuration	
DOID:9008592	Familial Angiolipomatosis	skos:exactMatch	MIM:206550	ANGIOLIPOMATOSIS, FAMILIAL	semapv:ManualMappingCuration	2022-12-06
DOID:9008596	Baker-Gordon Syndrome	skos:exactMatch	MIM:618218	Baker-Gordon syndrome	semapv:ManualMappingCuration	2019-01-10
DOID:9008601	Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 	skos:exactMatch	MIM:618862	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	semapv:ManualMappingCuration	2020-06-16
DOID:9008605	Hyperparathyroidism 3	skos:exactMatch	MIM:610071	Hyperparathyroidism 3	semapv:ManualMappingCuration	2017-10-03
DOID:9008610	Keratitis Fugax Hereditaria	skos:exactMatch	MIM:148200	Keratoendothelitis fugax hereditaria	semapv:ManualMappingCuration	
DOID:9008611	Infundibulopelvic Dysgenesis	skos:exactMatch	MIM:600989	INFUNDIBULOPELVIC DYSGENESIS	semapv:ManualMappingCuration	
DOID:9008615	Familial Thoracic Aortic Aneurysm 1	skos:exactMatch	MIM:607086	Aortic aneurysm, familial thoracic 1	semapv:ManualMappingCuration	2017-10-03
DOID:9008616	Patent Ductus Venosus	skos:exactMatch	MIM:601466	PATENT DUCTUS VENOSUS	semapv:ManualMappingCuration	
DOID:9008620	Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome	skos:exactMatch	MIM:214350	CHAND syndrome	semapv:ManualMappingCuration	2022-12-05
DOID:9008621	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY	skos:exactMatch	MIM:619971	Neurodevelopmental disorder with epilepsy and brain atrophy	semapv:ManualMappingCuration	2022-12-13
DOID:9008623	Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome	skos:exactMatch	MIM:162240	NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME	semapv:ManualMappingCuration	2020-10-19
DOID:9008626	Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia	skos:exactMatch	MIM:620538	Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia	semapv:ManualMappingCuration	2023-10-24
DOID:9008627	Severe Congenital Neutropenia 10	skos:exactMatch	MIM:620534	?Neutropenia, severe congenital, 10, autosomal recessive	semapv:ManualMappingCuration	2023-10-09
DOID:9008628	Familial Thoracic Aortic Aneurysm 12	skos:exactMatch	MIM:619825	Aortic aneurysm, familial thoracic 12	semapv:ManualMappingCuration	2022-04-11
DOID:9008633	Congenital Torticollis	skos:exactMatch	MIM:189600	TORTICOLLIS	semapv:ManualMappingCuration	2022-12-05
DOID:9008634	Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	skos:exactMatch	MIM:215250	CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME	semapv:ManualMappingCuration	
DOID:9008635	Cholesterol Pneumonia	skos:exactMatch	MIM:215030	CHOLESTEROL PNEUMONIA	semapv:ManualMappingCuration	2022-12-06
DOID:9008636	Cornea Guttata with Anterior Polar Cataract	skos:exactMatch	MIM:121390	CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS	semapv:ManualMappingCuration	
DOID:9008640	Capillary Malformation-Arteriovenous Malformation 1	skos:exactMatch	MIM:608354	Capillary malformation-arteriovenous malformation 1	semapv:ManualMappingCuration	2017-10-03
DOID:9008642	Progeria Short Stature Pigmented Nevi	skos:exactMatch	MIM:176690	PROGEROID SHORT STATURE WITH PIGMENTED NEVI	semapv:ManualMappingCuration	
DOID:9008645	Aurocephalosyndactyly	skos:exactMatch	MIM:109050	AUROCEPHALOSYNDACTYLY	semapv:ManualMappingCuration	
DOID:9008646	Dowling-Degos Disease 3	skos:exactMatch	MIM:615674	Dowling-Degos disease 3	semapv:ManualMappingCuration	2018-05-22
DOID:9008647	Myoclonic Epilepsy, Hartung Type	skos:exactMatch	MIM:159600	MYOCLONIC EPILEPSY, HARTUNG TYPE	semapv:ManualMappingCuration	
DOID:9008648	Thrombocytopenia 4	skos:exactMatch	MIM:612004	Thrombocytopenia 4	semapv:ManualMappingCuration	2017-10-03
DOID:9008650	Ulnar Agenesis and Endocardial Fibroelastosis	skos:exactMatch	MIM:276822	ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS	semapv:ManualMappingCuration	
DOID:9008653	Selective Tooth Agenesis 4	skos:exactMatch	MIM:150400	Tooth agenesis, selective, 4	semapv:ManualMappingCuration	2014-10-20
DOID:9008654	FLIEDNER-ZWEIER SYNDROME	skos:exactMatch	MIM:620511	Fliedner-Zweier syndrome	semapv:ManualMappingCuration	2023-11-07
DOID:9008660	Infantile Capillary Hemangioma	skos:exactMatch	MIM:602089	{Hemangioma, capillary infantile, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9008662	Hereditary Congenital Facial Paresis 3	skos:exactMatch	MIM:614744	Facial paresis, hereditary congenital, 3	semapv:ManualMappingCuration	2014-09-09
DOID:9008663	Infantile Liver Failure Syndrome 3	skos:exactMatch	MIM:618641	Infantile liver failure syndrome 3	semapv:ManualMappingCuration	2019-10-25
DOID:9008666	Trisomy 18-Like Syndrome	skos:exactMatch	MIM:601161	TRISOMY 18-LIKE SYNDROME	semapv:ManualMappingCuration	2022-12-06
DOID:9008667	Myoclonic Epilepsy of Lafora 2	skos:exactMatch	MIM:620681	Myoclonic epilepsy of Lafora 2	semapv:ManualMappingCuration	2024-01-31
DOID:9008668	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3	skos:exactMatch	MIM:616373	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3	semapv:ManualMappingCuration	2015-06-23
DOID:9008669	Glucocorticoid Receptor Deficiency	skos:exactMatch	MIM:615962	Glucocorticoid resistance	semapv:ManualMappingCuration	2016-09-08
DOID:9008674	Thoracic Dysplasia-Hydrocephalus Syndrome	skos:exactMatch	MIM:273730	THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME	semapv:ManualMappingCuration	2022-12-05
DOID:9008677	Foveal Hypoplasia 3	skos:exactMatch	MIM:620958	Foveal hypoplasia 3	semapv:ManualMappingCuration	2024-10-03
DOID:9008678	Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema	skos:exactMatch	MIM:609352	Epidermolysis bullosa simplex 2E, with migratory circinate erythema	semapv:ManualMappingCuration	2017-10-03
DOID:9008679	Posterior Column Ataxia with Retinitis Pigmentosa	skos:exactMatch	MIM:609033	Ataxia, posterior column, with retinitis pigmentosa	semapv:ManualMappingCuration	2017-10-03
DOID:9008682	Velopharyngeal Insufficiency	skos:exactMatch	MIM:167500	PALATOPHARYNGEAL INCOMPETENCE	semapv:ManualMappingCuration	
DOID:9008684	Symphalangism of Toes	skos:exactMatch	MIM:185600	SYMPHALANGISM OF TOES	semapv:ManualMappingCuration	
DOID:9008685	Idiopathic Basal Ganglia Calcification 9	skos:exactMatch	MIM:620786	Basal ganglia calcification, idiopathic, 9, autosomal recessive	semapv:ManualMappingCuration	2024-05-09
DOID:9008686	Odontoonychodermal Dysplasia	skos:exactMatch	MIM:257980	Ectodermal dysplasia 16 (odontoonychodermal dysplasia)	semapv:ManualMappingCuration	2017-10-03
DOID:9008689	Facial Hypertrichosis	skos:exactMatch	MIM:134000	FACIAL HYPERTRICHOSIS	semapv:ManualMappingCuration	
DOID:9008690	Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails	skos:exactMatch	MIM:600399	PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS	semapv:ManualMappingCuration	
DOID:9008693	Familial Atrial Fibrillation 11	skos:exactMatch	MIM:614049	Atrial fibrillation, familial, 11	semapv:ManualMappingCuration	2014-09-02
DOID:9008695	Agenesis of Cervical Vertebrae	skos:exactMatch	MIM:214290	CERVICAL VERTEBRAE, AGENESIS OF	semapv:ManualMappingCuration	
DOID:9008697	Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia	skos:exactMatch	MIM:248910	CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA	semapv:ManualMappingCuration	
DOID:9008698	NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED	skos:exactMatch	MIM:301094	Hijazi-Reis syndrome	semapv:ManualMappingCuration	2023-05-02
DOID:9008699	Ermine Phenotype	skos:exactMatch	MIM:227010	ERMINE PHENOTYPE	semapv:ManualMappingCuration	2022-11-28
DOID:9008700	Familial Lipochrome Histiocytosis	skos:exactMatch	MIM:235900	HISTIOCYTOSIS, FAMILIAL LIPOCHROME	semapv:ManualMappingCuration	2022-11-14
DOID:9008701	Ameloonychohypohidrotic Syndrome	skos:exactMatch	MIM:104570	AMELOONYCHOHYPOHIDROTIC SYNDROME	semapv:ManualMappingCuration	2022-11-21
DOID:9008702	Idiopathic Basal Ganglia Calcification, Childhood Onset	skos:exactMatch	MIM:114100	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET	semapv:ManualMappingCuration	2018-08-22
DOID:9008703	Tryptophanuria with Dwarfism	skos:exactMatch	MIM:276100	TRYPTOPHANURIA WITH DWARFISM	semapv:ManualMappingCuration	
DOID:9008704	Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma	skos:exactMatch	MIM:611863	Microtia with nasolacrimal duct imperforation and eye coloboma	semapv:ManualMappingCuration	2017-10-03
DOID:9008706	Menke-Hennekam Syndrome	skos:exactMatch	MIM:PS618332	Menke-Hennekam syndrome 1	semapv:ManualMappingCuration	2019-03-27
DOID:9008709	Senior-Loken Syndrome 6	skos:exactMatch	MIM:610189	Senior-Loken syndrome 6	semapv:ManualMappingCuration	2017-10-03
DOID:9008710	Xeroderma Pigmentosum, Autosomal Dominant, Mild	skos:exactMatch	MIM:194400	XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD	semapv:ManualMappingCuration	2022-11-21
DOID:9008711	Dilated Cardiomyopathy 2K	skos:exactMatch	MIM:620894	Cardiomyopathy, dilated, 2K	semapv:ManualMappingCuration	2024-07-17
DOID:9008716	Familial Progressive Scleroderma	skos:exactMatch	MIM:181750	SCLERODERMA, FAMILIAL PROGRESSIVE	semapv:ManualMappingCuration	2014-06-23
DOID:9008719	Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig	skos:exactMatch	MIM:218649	LIN-GETTING SYNDROME	semapv:ManualMappingCuration	
DOID:9008721	Muscular Dystrophy, Mabry Type	skos:exactMatch	MIM:310000	MUSCULAR DYSTROPHY, MABRY TYPE	semapv:ManualMappingCuration	2018-08-22
DOID:9008727	Ige Responsiveness, Atopic	skos:exactMatch	MIM:147050	IgE RESPONSIVENESS, ATOPIC	semapv:ManualMappingCuration	2017-10-03
DOID:9008728	PREMATURE OVARIAN FAILURE 24	skos:exactMatch	MIM:620840	Premature ovarian failure 24	semapv:ManualMappingCuration	2024-06-17
DOID:9008732	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23	skos:exactMatch	MIM:618138	Muscular dystrophy, limb-girdle, autosomal recessive 23	semapv:ManualMappingCuration	2018-11-09
DOID:9008733	Obesity, Hyperphagia, and Developmental Delay	skos:exactMatch	MIM:613886	Obesity, hyperphagia, and developmental delay	semapv:ManualMappingCuration	2014-10-20
DOID:9008734	Immunodeficiency 121 with autoinflammation	skos:exactMatch	MIM:620807	Immunodeficiency 121 with autoinflammation	semapv:ManualMappingCuration	2024-07-08
DOID:9008735	Developmental Dysplasia of the Hip 3	skos:exactMatch	MIM:620690	Developmental dysplasia of the hip 3	semapv:ManualMappingCuration	2024-01-31
DOID:9008737	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS	skos:exactMatch	MIM:619227	Vertebral, cardiac, tracheoesophageal, renal, and limb defects	semapv:ManualMappingCuration	2021-04-16
DOID:9008741	Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome	skos:exactMatch	MIM:PS619115	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	semapv:ManualMappingCuration	2021-02-02
DOID:9008743	Deafness, Congenital Heart Defects, and Posterior Embryotoxon	skos:exactMatch	MIM:617992	?Deafness, congenital heart defects, and posterior embryotoxon	semapv:ManualMappingCuration	
DOID:9008744	MHC CLASS II DEFICIENCY 3	skos:exactMatch	MIM:620816	MHC class II deficiency 3	semapv:ManualMappingCuration	2024-06-14
DOID:9008745	MHC CLASS II DEFICIENCY 2	skos:exactMatch	MIM:620815	MHC class II deficiency 2	semapv:ManualMappingCuration	2024-06-14
DOID:9008747	Amyotrophic Dystonic Paraplegia	skos:exactMatch	MIM:105300	AMYOTROPHIC DYSTONIC PARAPLEGIA	semapv:ManualMappingCuration	
DOID:9008751	NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1	skos:exactMatch	MIM:620888	Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1	semapv:ManualMappingCuration	2024-09-17
DOID:9008754	Primary Lymphedema with Myelodysplasia	skos:exactMatch	MIM:614038	Emberger syndrome	semapv:ManualMappingCuration	2014-09-09
DOID:9008756	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9	skos:exactMatch	MIM:620400	?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9	semapv:ManualMappingCuration	2023-06-06
DOID:9008758	Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects	skos:exactMatch	MIM:183802	SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS	semapv:ManualMappingCuration	
DOID:9008761	Thai Symphalangism Syndrome	skos:exactMatch	MIM:608028	THAI SYMPHALANGISM SYNDROME	semapv:ManualMappingCuration	
DOID:9008762	HID Syndrome	skos:exactMatch	MIM:602540	Hystrix-like ichthyosis with deafness	semapv:ManualMappingCuration	2017-10-03
DOID:9008764	Immunodeficiency 111	skos:exactMatch	MIM:620331	Hatipoglu immunodeficiency syndrome	semapv:ManualMappingCuration	2023-04-28
DOID:9008766	Myopia 20, Autosomal Dominant	skos:exactMatch	MIM:614166	Myopia 20, autosomal dominant	semapv:ManualMappingCuration	2014-06-23
DOID:9008767	Thrombocytopenia 8	skos:exactMatch	MIM:620475	Thrombocytopenia 8, with dysmorphic features and developmental delay	semapv:ManualMappingCuration	2023-09-01
DOID:9008769	Hydroxyprolinemia	skos:exactMatch	MIM:237000	HYDROXYPROLINEMIA	semapv:ManualMappingCuration	
DOID:9008770	Arteriosclerosis, Severe Juvenile	skos:exactMatch	MIM:208060	ARTERIOSCLEROSIS, SEVERE JUVENILE	semapv:ManualMappingCuration	
DOID:9008772	LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED	skos:exactMatch	MIM:620711	Leukoencephalopathy, porphyria-related	semapv:ManualMappingCuration	2024-03-25
DOID:9008773	Hodgkin Disease, Y-Linked Pseudoautosomal	skos:exactMatch	MIM:400021	LYMPHOMA, HODGKIN, Y-LINKED PSEUDOAUTOSOMAL	semapv:ManualMappingCuration	2018-08-21
DOID:9008780	syndromic X-linked intellectual developmental disorder 37	skos:exactMatch	MIM:301118	Intellectual developmental disorder, X-linked syndromic 37	semapv:ManualMappingCuration	2024-05-14
DOID:9008781	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES	skos:exactMatch	MIM:620001	Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities	semapv:ManualMappingCuration	2024-03-26
DOID:9008786	congenital myasthenic syndrome 4	skos:exactMatch	MIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	semapv:ManualMappingCuration	2024-01-09
DOID:9008786	congenital myasthenic syndrome 4	skos:exactMatch	MIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	semapv:ManualMappingCuration	2024-01-09
DOID:9008786	congenital myasthenic syndrome 4	skos:exactMatch	MIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	semapv:ManualMappingCuration	2024-01-09
DOID:9008787	Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies	skos:exactMatch	MIM:618672	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	semapv:ManualMappingCuration	2020-01-10
DOID:9008788	Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy	skos:exactMatch	MIM:183050	SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY	semapv:ManualMappingCuration	
DOID:9008789	Type 2 Diabetes Mellitus 3	skos:exactMatch	MIM:603694	{Type 2 diabetes mellitus 3}	semapv:ManualMappingCuration	2017-10-03
DOID:9008790	Nablus Mask-Like Facial Syndrome	skos:exactMatch	MIM:608156	Nablus mask-like facial syndrome	semapv:ManualMappingCuration	
DOID:9008791	Familial Cutaneous Papillomatosis	skos:exactMatch	MIM:167900	PAPILLOMATOSIS, CONFLUENT AND RETICULATED	semapv:ManualMappingCuration	
DOID:9008792	Microphthalmia/Coloboma 11	skos:exactMatch	MIM:620731	Microphthalmia/coloboma 11	semapv:ManualMappingCuration	2024-03-18
DOID:9008794	ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY	skos:exactMatch	MIM:614262	?Arthrogryposis, Perthes disease, and upward gaze palsy	semapv:ManualMappingCuration	2017-02-15
DOID:9008801	Selective Tooth Agenesis 5	skos:exactMatch	MIM:610926	Tooth agenesis, selective, 5	semapv:ManualMappingCuration	2017-10-03
DOID:9008802	Periodic Fever, Menstrual Cycle-Dependent	skos:exactMatch	MIM:614674	?Periodic fever, menstrual cycle dependent	semapv:ManualMappingCuration	2014-09-09
DOID:9008807	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE	skos:exactMatch	MIM:620851	ReNU syndrome	semapv:ManualMappingCuration	2024-07-12
DOID:9008815	Mirror Movements 3	skos:exactMatch	MIM:616059	?Mirror movements 3	semapv:ManualMappingCuration	2016-10-25
DOID:9008816	Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus	skos:exactMatch	MIM:600089	?Diabetes mellitus, insulin-dependent, neonatal	semapv:ManualMappingCuration	2017-10-03
DOID:9008819	Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome	skos:exactMatch	MIM:620651	Diabetes, deafness, developmental delay, and short stature syndrome	semapv:ManualMappingCuration	2023-12-12
DOID:9008826	YOU-HOOVER-FONG SYNDROME	skos:exactMatch	MIM:616954	You-Hoover-Fong syndrome	semapv:ManualMappingCuration	2017-04-19
DOID:9008829	Nijmegen Breakage Syndrome-Like Disorder	skos:exactMatch	MIM:613078	Nijmegen breakage syndrome-like disorder	semapv:ManualMappingCuration	2017-10-03
DOID:9008834	Maple Syrup Urine Disease, Type 1A	skos:exactMatch	MIM:248600	Maple syrup urine disease, type Ia	semapv:ManualMappingCuration	2017-10-03
DOID:9008837	Severe Congenital Neutropenia 11, Autosomal Dominant	skos:exactMatch	MIM:620674	?Neutropenia, severe congenital, 11, autosomal dominant	semapv:ManualMappingCuration	2024-01-19
DOID:9008839	Factor V and Factor VIII, Combined Deficiency of, 2	skos:exactMatch	MIM:613625	Factor V and factor VIII, combined deficiency of	semapv:ManualMappingCuration	2014-06-23
DOID:9008841	Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia	skos:exactMatch	MIM:603641	NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING LOSS, AND ENAMEL HYPOPLASIA	semapv:ManualMappingCuration	2022-12-06
DOID:9008845	Oocyte Maturation Defect 2	skos:exactMatch	MIM:616780	Oocyte/zygote/embryo maturation arrest 2	semapv:ManualMappingCuration	2016-03-11
DOID:9008851	Megarbane Jalkh Syndrome	skos:exactMatch	MIM:612785	MEGARBANE-JALKH SYNDROME	semapv:ManualMappingCuration	
DOID:9008852	Respiratory Underresponsiveness to Hypoxia and Hypercapnia	skos:exactMatch	MIM:267480	RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA	semapv:ManualMappingCuration	2022-12-05
DOID:9008853	Specific Language Impairment 4	skos:exactMatch	MIM:612514	{Specific language impairment 4}	semapv:ManualMappingCuration	2017-10-03
DOID:9008854	Autosomal Recessive Nonsyndromic Deafness 125	skos:exactMatch	MIM:620877	?Deafness, autosomal recessive 125	semapv:ManualMappingCuration	2024-07-17
DOID:9008855	Brachyolmia Type 2	skos:exactMatch	MIM:613678	BRACHYOLMIA TYPE 2	semapv:ManualMappingCuration	2018-08-23
DOID:9008857	Postaxial Polydactyly, Type A8	skos:exactMatch	MIM:618123	Polydactyly, postaxial, type A8	semapv:ManualMappingCuration	2019-01-16
DOID:9008858	Arthrogryposis, Impaired Intellectual Development, and Seizures	skos:exactMatch	MIM:615553	Arthrogryposis, impaired intellectual development, and seizures	semapv:ManualMappingCuration	2014-09-09
DOID:9008862	Short Stature, Developmental Delay, and Congenital Heart Defects	skos:exactMatch	MIM:617044	Short stature, developmental delay, and congenital heart defects	semapv:ManualMappingCuration	2016-08-10
DOID:9008864	POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS	skos:exactMatch	MIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	semapv:ManualMappingCuration	2017-03-30
DOID:9008867	C3 Glomerulopathy 3	skos:exactMatch	MIM:614809	Nephropathy due to CFHR5 deficiency	semapv:ManualMappingCuration	2014-09-09
DOID:9008869	Lattice Corneal Dystrophy Type 1	skos:exactMatch	MIM:122200	Corneal dystrophy, lattice type I	semapv:ManualMappingCuration	2017-10-03
DOID:9008870	Chromosome 16q12 Duplication Syndrome	skos:exactMatch	MIM:619649	Chromosome 16q12 duplication syndrome	semapv:ManualMappingCuration	2021-12-07
DOID:9008872	Autosomal Dominant Intellectual Developmental Disorder 73	skos:exactMatch	MIM:620450	Intellectual developmental disorder, autosomal dominant 73	semapv:ManualMappingCuration	2023-07-25
DOID:9008874	ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME	skos:exactMatch	MIM:620908	Arterial tortuosity-bone fragility syndrome	semapv:ManualMappingCuration	2024-09-13
DOID:9008877	Familial Partial Lipodystrophy Type 9	skos:exactMatch	MIM:620683	Lipodystrophy, familial partial, type 9	semapv:ManualMappingCuration	2024-01-31
DOID:9008883	Major Affective Disorder 8	skos:exactMatch	MIM:612357	{Major affective disorder-8, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9008888	Spastic Paraplegia 93, Autosomal Recessive	skos:exactMatch	MIM:620938	Spastic paraplegia 93, autosomal recessive	semapv:ManualMappingCuration	2024-09-23
DOID:9008889	White Forelock with Malformations	skos:exactMatch	MIM:277740	WHITE FORELOCK WITH MALFORMATIONS	semapv:ManualMappingCuration	
DOID:9008890	Pseudohypoaldosteronism, Type IIE	skos:exactMatch	MIM:614496	Pseudohypoaldosteronism, type IIE	semapv:ManualMappingCuration	2014-09-09
DOID:9008891	Splenogonadal Fusion with Limb Defects and Micrognathia	skos:exactMatch	MIM:183300	SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA	semapv:ManualMappingCuration	
DOID:9008892	Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis	skos:exactMatch	MIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	semapv:ManualMappingCuration	2017-06-16
DOID:9008898	Vitelliform Macular Dystrophy 4	skos:exactMatch	MIM:616151	Macular dystrophy, vitelliform, 4	semapv:ManualMappingCuration	2017-05-04
DOID:9008902	Polycystic Bone Disease	skos:exactMatch	MIM:604771	POLYCYSTIC BONE DISEASE	semapv:ManualMappingCuration	
DOID:9008905	Oocyte/Zygote/Embryo Maturation Arrest 18	skos:exactMatch	MIM:620332	Oocyte/zygote/embryo maturation arrest 18	semapv:ManualMappingCuration	2023-04-18
DOID:9008908	Diffuse Corticomeningeal Angiomatosis of Divry and Van Bogaert	skos:exactMatch	MIM:206570	ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT	semapv:ManualMappingCuration	
DOID:9008909	Stuve-Wiedemann Syndrome 1	skos:exactMatch	MIM:601559	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9008910	autosomal recessive distal hereditary motor neuronopathy 11	skos:exactMatch	MIM:620854	Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity	semapv:ManualMappingCuration	2024-07-17
DOID:9008912	Ovalocytosis, Malaysian-Melanesian-Filipino Type	skos:exactMatch	MIM:109270	[Blood group, Wright]	semapv:ManualMappingCuration	2014-10-20
DOID:9008912	Ovalocytosis, Malaysian-Melanesian-Filipino Type	skos:exactMatch	MIM:166900	Ovalocytosis, SA type	semapv:ManualMappingCuration	2017-10-10
DOID:9008913	Chromosome 17q23.1-q23.2 Duplication Syndrome	skos:exactMatch	MIM:613618	Chromosome 17q23.1-q23.2 duplication syndrome	semapv:ManualMappingCuration	2022-08-22
DOID:9008915	Ataxia with Fasciculations	skos:exactMatch	MIM:108700	ATAXIA WITH FASCICULATIONS	semapv:ManualMappingCuration	
DOID:9008916	Prenatal Bowing	skos:exactMatch	MIM:264050	PRENATAL BOWING	semapv:ManualMappingCuration	
DOID:9008917	Immunodeficiency 122	skos:exactMatch	MIM:620869	Immunodeficiency 122	semapv:ManualMappingCuration	2024-07-17
DOID:9008918	Hypomyelinating Leukodystrophy 27	skos:exactMatch	MIM:620675	Leukodystrophy, hypomyelinating, 27	semapv:ManualMappingCuration	2024-01-19
DOID:9008924	Female Pseudohermaphroditism with Skeletal Anomalies	skos:exactMatch	MIM:264270	PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES	semapv:ManualMappingCuration	
DOID:9008925	Familial Multiple Trichodiscomas	skos:exactMatch	MIM:190340	DISCOID FIBROMAS, FAMILIAL MULTIPLE	semapv:ManualMappingCuration	2018-01-17
DOID:9008927	Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive	skos:exactMatch	MIM:615028	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	semapv:ManualMappingCuration	2014-09-09
DOID:9008931	X-Linked Intellectual Developmental Disorder 113	skos:exactMatch	MIM:301116	?Intellectual developmental disorder, X-linked 113	semapv:ManualMappingCuration	2024-02-12
DOID:9008932	ALAGILLE SYNDROME 2	skos:exactMatch	MIM:610205	Alagille syndrome 2	semapv:ManualMappingCuration	2024-02-08
DOID:9008934	Van der Woude Syndrome 2	skos:exactMatch	MIM:606713	van der Woude syndrome 2	semapv:ManualMappingCuration	2017-10-03
DOID:9008938	Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1	skos:exactMatch	MIM:619082	?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1	semapv:ManualMappingCuration	2020-11-04
DOID:9008940	Dianzani Autoimmune Lymphoproliferative Syndrome	skos:exactMatch	MIM:605233	DIANZANI AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE	semapv:ManualMappingCuration	
DOID:9008946	Multiple Pterygium Syndrome, X-Linked	skos:exactMatch	MIM:312150	MULTIPLE PTERYGIUM SYNDROME, X-LINKED	semapv:ManualMappingCuration	2019-07-02
DOID:9008949	Hyperproglucagonemia	skos:exactMatch	MIM:145270	HYPERPROGLUCAGONEMIA	semapv:ManualMappingCuration	
DOID:9008954	Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA	skos:exactMatch	MIM:560000	RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA	semapv:ManualMappingCuration	
DOID:9008956	DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE	skos:exactMatch	MIM:618183	Diarrhea 10, protein-losing enteropathy type	semapv:ManualMappingCuration	2019-01-14
DOID:9008959	Liang-Wang Syndrome	skos:exactMatch	MIM:618729	Liang-Wang syndrome	semapv:ManualMappingCuration	2020-01-13
DOID:9008961	Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities	skos:exactMatch	MIM:619092	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant	semapv:ManualMappingCuration	2020-11-23
DOID:9008962	Pierre Robin Sequence with Facial and Digital Anomalies	skos:exactMatch	MIM:311895	PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES	semapv:ManualMappingCuration	
DOID:9008963	Robin Sequence and Oligodactyly	skos:exactMatch	MIM:172880	PIERRE ROBIN SYNDROME AND OLIGODACTYLY	semapv:ManualMappingCuration	
DOID:9008965	Bronchomalacia	skos:exactMatch	MIM:211450	WILLIAMS-CAMPBELL SYNDROME	semapv:ManualMappingCuration	
DOID:9008968	Thanatophoric Dysplasia, Type I	skos:exactMatch	MIM:187600	Thanatophoric dysplasia, type I	semapv:ManualMappingCuration	2017-10-03
DOID:9008971	Inability to Smell Musk	skos:exactMatch	MIM:254150	MUSK, INABILITY TO SMELL	semapv:ManualMappingCuration	2022-12-06
DOID:9008973	Familial Persistent Stuttering 4	skos:exactMatch	MIM:614668	Stuttering, familial persistent, 4	semapv:ManualMappingCuration	2018-04-13
DOID:9008974	Menke-Hennekam Syndrome 1	skos:exactMatch	MIM:618332	Menke-Hennekam syndrome 1	semapv:ManualMappingCuration	2019-02-25
DOID:9008977	Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification	skos:exactMatch	MIM:603589	FACIAL DYSMORPHISM, SELECTIVE TOOTH AGENESIS, AND CHOROID CALCIFICATION	semapv:ManualMappingCuration	
DOID:9008979	Rett Syndrome, Congenital Variant	skos:exactMatch	MIM:613454	Rett syndrome, congenital variant	semapv:ManualMappingCuration	2014-06-23
DOID:9008980	Subcutaneous Panniculitis-like T-Cell Lymphoma	skos:exactMatch	MIM:618398	T-cell lymphoma, subcutaneous panniculitis-like	semapv:ManualMappingCuration	2019-04-25
DOID:9008981	Hyperlexia	skos:exactMatch	MIM:238350	HYPERLEXIA	semapv:ManualMappingCuration	2022-11-21
DOID:9008982	Welander Distal Myopathy, Swedish Type	skos:exactMatch	MIM:604454	Welander distal myopathy	semapv:ManualMappingCuration	2017-10-03
DOID:9008983	Keratosis Palmaris et Plantaris with Clinodactyly	skos:exactMatch	MIM:148520	KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY	semapv:ManualMappingCuration	
DOID:9008986	Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts	skos:exactMatch	MIM:259410	OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS	semapv:ManualMappingCuration	
DOID:9008988	Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1	skos:exactMatch	MIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	semapv:ManualMappingCuration	2014-09-09
DOID:9008989	Familial Letterer-Siwe Disease	skos:exactMatch	MIM:246400	LETTERER-SIWE DISEASE	semapv:ManualMappingCuration	2018-08-21
DOID:9008990	Cerebrooculonasal Syndrome	skos:exactMatch	MIM:605627	CEREBROOCULONASAL SYNDROME	semapv:ManualMappingCuration	
DOID:9008992	ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME	skos:exactMatch	MIM:616029	Ectodermal dysplasia/short stature syndrome	semapv:ManualMappingCuration	2017-03-06
DOID:9008994	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY	skos:exactMatch	MIM:620027	Neurodevelopmental disorder with microcephaly, short stature, and speech delay	semapv:ManualMappingCuration	2023-07-18
DOID:9008995	Posterior Column Ataxia	skos:exactMatch	MIM:176250	POSTERIOR COLUMN ATAXIA	semapv:ManualMappingCuration	2022-11-29
DOID:9008996	Heme Oxygenase 1 Deficiency	skos:exactMatch	MIM:614034	Heme oxygenase-1 deficiency	semapv:ManualMappingCuration	2014-10-20
DOID:9008997	X-Linked Intellectual Developmental Disorder 112	skos:exactMatch	MIM:301111	Intellectual developmental disorder, X-linked 112	semapv:ManualMappingCuration	2023-07-25
DOID:9008999	Hereditary Pancreatitis	skos:exactMatch	MIM:167800	{Pancreatitis, chronic, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9009001	Kaplan Plauchu Fitch Syndrome	skos:exactMatch	MIM:201050	ACROCRANIOFACIAL DYSOSTOSIS	semapv:ManualMappingCuration	
DOID:9009003	Erythropoietic Protoporphyria 2	skos:exactMatch	MIM:618015	?Protoporphyria, erythropoietic, 2	semapv:ManualMappingCuration	2019-01-16
DOID:9009004	Cree Mental Retardation Syndrome	skos:exactMatch	MIM:606851	CREE IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	semapv:ManualMappingCuration	
DOID:9009005	Familial Thoracic Aortic Aneurysm 2	skos:exactMatch	MIM:607087	Aortic aneurysm, familial thoracic 2	semapv:ManualMappingCuration	2017-10-03
DOID:9009009	Posterior Exchondrosis of Pinna	skos:exactMatch	MIM:133500	EXCHONDROSIS OF PINNA, POSTERIOR	semapv:ManualMappingCuration	
DOID:9009010	Progressive Bifocal Chorioretinal Atrophy	skos:exactMatch	MIM:600790	Chorioretinal atrophy, progressive bifocal	semapv:ManualMappingCuration	2017-10-03
DOID:9009011	Cavitary Optic Disc Anomalies	skos:exactMatch	MIM:611543	Cavitary optic disc anomalies	semapv:ManualMappingCuration	2017-10-03
DOID:9009012	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY	skos:exactMatch	MIM:619072	Neurodevelopmental disorder with seizures and brain atrophy	semapv:ManualMappingCuration	2021-01-18
DOID:9009013	Hyperkeratosis Lenticularis Perstans	skos:exactMatch	MIM:144150	HYPERKERATOSIS LENTICULARIS PERSTANS	semapv:ManualMappingCuration	2017-10-03
DOID:9009014	Retinal Dystrophy and Obesity	skos:exactMatch	MIM:616188	?Retinal dystrophy and obesity	semapv:ManualMappingCuration	2015-04-08
DOID:9009015	Familial Myoclonus 1	skos:exactMatch	MIM:614937	?Myoclonus, familial, 1	semapv:ManualMappingCuration	2014-09-09
DOID:9009016	Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect	skos:exactMatch	MIM:235750	HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT	semapv:ManualMappingCuration	
DOID:9009020	Anencephaly 1	skos:exactMatch	MIM:206500	?Anencephaly 1	semapv:ManualMappingCuration	2017-10-03
DOID:9009027	Lymphoproliferative Syndrome 3	skos:exactMatch	MIM:618261	Lymphoproliferative syndrome 3	semapv:ManualMappingCuration	2017-10-03
DOID:9009031	Porphyria Cutanea Tarda, Type I	skos:exactMatch	MIM:176090	PORPHYRIA CUTANEA TARDA, TYPE I	semapv:ManualMappingCuration	2018-08-21
DOID:9009032	Hairy Nose Tip	skos:exactMatch	MIM:139630	HAIRY NOSE TIP	semapv:ManualMappingCuration	2022-11-08
DOID:9009035	Mexican Cardiomelic Dysplasia	skos:exactMatch	MIM:249670	MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION	semapv:ManualMappingCuration	
DOID:9009036	Globulin Anomaly involving Beta (2A)-Globulin	skos:exactMatch	MIM:137900	GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN	semapv:ManualMappingCuration	
DOID:9009037	Candidiasis, Familial, 4	skos:exactMatch	MIM:613108	Candidiasis, familial, 4, autosomal recessive	semapv:ManualMappingCuration	2017-10-03
DOID:9009038	Nevus Comedonicus	skos:exactMatch	MIM:617025	Nevus comedonicus, somatic	semapv:ManualMappingCuration	2017-03-30
DOID:9009040	Woods Leversha Rogers Syndrome	skos:exactMatch	MIM:600546	INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY	semapv:ManualMappingCuration	
DOID:9009042	Familial Leg Ulcers of Juvenile Onset	skos:exactMatch	MIM:150590	LEG ULCERS, FAMILIAL, OF JUVENILE ONSET	semapv:ManualMappingCuration	2022-08-15
DOID:9009043	Cole-Carpenter Syndrome 1	skos:exactMatch	MIM:112240	Cole-Carpenter syndrome 1	semapv:ManualMappingCuration	2017-02-28
DOID:9009044	Immunodeficiency 109	skos:exactMatch	MIM:620282	Immunodeficiency 109 with lymphoproliferation	semapv:ManualMappingCuration	2023-03-17
DOID:9009051	Atrioventricular Septal Defect 2	skos:exactMatch	MIM:606217	{Atrioventricular septal defect, susceptibility to, 2}	semapv:ManualMappingCuration	2018-01-12
DOID:9009052	HYPOPLASTIC FEMURS AND PELVIS	skos:exactMatch	MIM:619545	Hypoplastic femurs and pelvis	semapv:ManualMappingCuration	2024-08-15
DOID:9009054	Colorectal Cancer 10	skos:exactMatch	MIM:612591	{Colorectal cancer, susceptibility to, 10}	semapv:ManualMappingCuration	2018-01-12
DOID:9009055	Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia	skos:exactMatch	MIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	semapv:ManualMappingCuration	2018-01-12
DOID:9009056	BRAIN MALFORMATION RENAL SYNDROME	skos:exactMatch	MIM:620943	Brain malformation renal syndrome	semapv:ManualMappingCuration	2024-10-08
DOID:9009058	methylmalonic acidemia cblD type	skos:exactMatch	MIM:620953	Methylmalonic aciduria, cblD type	semapv:ManualMappingCuration	2024-10-03
DOID:9009059	OTOFACIAL NEURODEVELOPMENTAL SYNDROME	skos:exactMatch	MIM:620910	Otofacial neurodevelopmental syndrome	semapv:ManualMappingCuration	2024-09-19
DOID:9009060	Childhood Absence Epilepsy 1 	skos:exactMatch	MIM:600131	Epilepsy, childhood absence, 1	semapv:ManualMappingCuration	2018-01-15
DOID:9009062	Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis	skos:exactMatch	MIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	semapv:ManualMappingCuration	2019-02-25
DOID:9009065	Optic Atrophy 14	skos:exactMatch	MIM:620550	Optic atrophy 14	semapv:ManualMappingCuration	2023-10-30
DOID:9009066	Glucocorticoid Deficiency 5	skos:exactMatch	MIM:617825	?Glucocorticoid deficiency 5	semapv:ManualMappingCuration	2018-01-15
DOID:9009067	Glycosylphosphatidylinositol Biosynthesis Defect 15	skos:exactMatch	MIM:617810	Glycosylphosphatidylinositol biosynthesis defect 15	semapv:ManualMappingCuration	2018-01-15
DOID:9009070	Herpes Simplex Encephalitis 1	skos:exactMatch	MIM:610551	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}	semapv:ManualMappingCuration	2018-01-16
DOID:9009072	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	skos:exactMatch	MIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	semapv:ManualMappingCuration	2018-01-16
DOID:9009074	KARIMINEJAD-REVERSADE NEURODEVELOPMENTAL SYNDROME	skos:exactMatch	MIM:620937	Kariminejad-Reversade neurodevelopmental syndrome	semapv:ManualMappingCuration	2024-10-10
DOID:9009075	Congenital myopathy 25	skos:exactMatch	MIM:620964	Congenital myopathy 25	semapv:ManualMappingCuration	2024-10-04
DOID:9009076	XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME	skos:exactMatch	MIM:620510	Xerosis and growth failure with immune and pulmonary dysfunction syndrome	semapv:ManualMappingCuration	2023-11-10
DOID:9009077	NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES	skos:exactMatch	MIM:620327	Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities	semapv:ManualMappingCuration	2023-06-20
DOID:9009078	Progressive Leukodystrophy, Early Childhood-Onset	skos:exactMatch	MIM:617762	?Leukodystrophy, progressive, early childhood-onset	semapv:ManualMappingCuration	2018-01-17
DOID:9009080	Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange	skos:exactMatch	MIM:PS210900	Bloom syndrome	semapv:ManualMappingCuration	2021-02-04
DOID:9009081	Multiple mitochondrial dysfunctions syndrome 8	skos:exactMatch	MIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	semapv:ManualMappingCuration	2019-03-25
DOID:9009082	Specific Granule Deficiency 1	skos:exactMatch	MIM:245480	Specific granule deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9009083	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY	skos:exactMatch	MIM:618572	?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity	semapv:ManualMappingCuration	2019-10-10
DOID:9009085	Bone Marrow Failure and Diabetes Mellitus Syndrome	skos:exactMatch	MIM:620044	Bone marrow failure and diabetes mellitus syndrome	semapv:ManualMappingCuration	2022-11-14
DOID:9009086	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	skos:exactMatch	MIM:603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	semapv:ManualMappingCuration	2017-10-03
DOID:9009087	Hypoplastic Left Heart Syndrome 1	skos:exactMatch	MIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1	semapv:ManualMappingCuration	2017-10-03
DOID:9009089	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly	skos:exactMatch	MIM:PS221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	semapv:ManualMappingCuration	2019-03-21
DOID:9009090	arthrogryposis multiplex congenita-7, X-linked	skos:exactMatch	MIM:301127	Arthrogryposis multiplex congenita 7, X-linked	semapv:ManualMappingCuration	2024-10-18
DOID:9009091	ENCEPHALOPATHY, ACUTE TRANSIENT	skos:exactMatch	MIM:620950	Encephalopathy, acute transient	semapv:ManualMappingCuration	2024-09-23
DOID:9009093	Myopia 26, X-Linked, Female-Limited	skos:exactMatch	MIM:301010	Myopia 26, X-linked, female-limited	semapv:ManualMappingCuration	2018-01-17
DOID:9009095	Neuroblastoma 3	skos:exactMatch	MIM:613014	{Neuroblastoma, susceptibility to, 3}	semapv:ManualMappingCuration	2018-01-17
DOID:9009096	Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter	skos:exactMatch	MIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	semapv:ManualMappingCuration	2018-01-17
DOID:9009098	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY	skos:exactMatch	MIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	semapv:ManualMappingCuration	2018-01-17
DOID:9009099	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE	skos:exactMatch	MIM:617804	Neurodevelopmental disorder with variable motor and speech impairment	semapv:ManualMappingCuration	2018-01-17
DOID:9009100	Renal Hypodysplasia/Aplasia 3	skos:exactMatch	MIM:617805	Renal hypodysplasia/aplasia 3	semapv:ManualMappingCuration	2018-01-18
DOID:9009101	Retinitis Pigmentosa 80	skos:exactMatch	MIM:617781	Retinitis pigmentosa 80	semapv:ManualMappingCuration	2018-01-18
DOID:9009103	Homocystinuria-Megaloblastic Anemia	skos:exactMatch	MIM:PS236270	Homocystinuria-megaloblastic anemia, cbl E type	semapv:ManualMappingCuration	2024-10-03
DOID:9009104	NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY	skos:exactMatch	MIM:620784	Neurodevelopmental disorder plus optic atrophy	semapv:ManualMappingCuration	2024-05-24
DOID:9009111	Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission	skos:exactMatch	MIM:PS614388	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	semapv:ManualMappingCuration	2024-09-30
DOID:9009112	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5	skos:exactMatch	MIM:618674	?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5	semapv:ManualMappingCuration	2019-12-02
DOID:9009113	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES	skos:exactMatch	MIM:620852	Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities	semapv:ManualMappingCuration	2024-07-11
DOID:9009115	Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive	skos:exactMatch	MIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	semapv:ManualMappingCuration	2018-02-07
DOID:9009117	primary pulmonary hypertension 1	skos:exactMatch	MIM:178600	Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated	semapv:ManualMappingCuration	2018-05-22
DOID:9009118	Ovarian Dysgenesis 11	skos:exactMatch	MIM:620897	Ovarian dysgenesis 11	semapv:ManualMappingCuration	2024-07-30
DOID:9009123	Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features	skos:exactMatch	MIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	semapv:ManualMappingCuration	2018-03-14
DOID:9009124	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	skos:exactMatch	MIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	semapv:ManualMappingCuration	2018-03-14
DOID:9009128	PEHO-like syndrome	skos:exactMatch	MIM:617507	?PEHO syndrome-like	semapv:ManualMappingCuration	2024-08-06
DOID:9009130	Immunodeficiency 83	skos:exactMatch	MIM:613002	{Immunodeficiency 83, susceptibility to viral infections}	semapv:ManualMappingCuration	2017-10-03
DOID:9009137	AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS	skos:exactMatch	MIM:620880	Autoinflammation with arthritis and vasculitis	semapv:ManualMappingCuration	2024-09-13
DOID:9009139	Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome	skos:exactMatch	MIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	semapv:ManualMappingCuration	2018-04-13
DOID:9009140	Congenital Heart Defects, Multiple Types, 5	skos:exactMatch	MIM:617912	Congenital heart defects, multiple types, 5	semapv:ManualMappingCuration	2018-04-16
DOID:9009141	Joubert Syndrome 36	skos:exactMatch	MIM:618763	Joubert syndrome 36	semapv:ManualMappingCuration	2020-02-05
DOID:9009142	Diamond-Blackfan Anemia-Like	skos:exactMatch	MIM:617911	?Diamond-Blackfan anemia-like	semapv:ManualMappingCuration	2018-04-17
DOID:9009143	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC),  8	skos:exactMatch	MIM:617900	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}	semapv:ManualMappingCuration	2018-04-17
DOID:9009144	Methylmalonic Aciduria and Homocystinuria, cblL Type	skos:exactMatch	MIM:620940	?Methylmalonic aciduria and homocystinuria, cblL type	semapv:ManualMappingCuration	2024-09-23
DOID:9009145	Mismatch Repair Cancer Syndrome 3	skos:exactMatch	MIM:619097	Mismatch repair cancer syndrome 3	semapv:ManualMappingCuration	2020-11-30
DOID:9009147	HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME	skos:exactMatch	MIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	semapv:ManualMappingCuration	2018-04-19
DOID:9009148	Hypertrophic Cardiomyopathy 29	skos:exactMatch	MIM:620236	Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies	semapv:ManualMappingCuration	2023-02-02
DOID:9009149	Primary Autosomal Recessive Microcephaly 20	skos:exactMatch	MIM:617914	Microcephaly 20, primary, autosomal recessive	semapv:ManualMappingCuration	2018-04-23
DOID:9009150	Spastic paraplegia 30, autosomal dominant	skos:exactMatch	MIM:610357	Spastic paraplegia 30, autosomal dominant	semapv:ManualMappingCuration	2024-07-17
DOID:9009152	Neurodegeneration with Brain Iron Accumulation 7	skos:exactMatch	MIM:617916	?Neurodegeneration with brain iron accumulation 7	semapv:ManualMappingCuration	2018-04-23
DOID:9009153	Neurodegeneration with Brain Iron Accumulation 8	skos:exactMatch	MIM:617917	?Neurodegeneration with brain iron accumulation 8	semapv:ManualMappingCuration	2018-04-23
DOID:9009154	Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills	skos:exactMatch	MIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills	semapv:ManualMappingCuration	2018-04-23
DOID:9009156	Lymphatic Malformation 9	skos:exactMatch	MIM:619319	Lymphatic malformation 9	semapv:ManualMappingCuration	2021-05-17
DOID:9009158	MHC CLASS II DEFICIENCY 1	skos:exactMatch	MIM:209920	MHC class II deficiency 1	semapv:ManualMappingCuration	2017-10-03
DOID:9009160	SCHIZOPHRENIA 17	skos:exactMatch	MIM:614332	{Schizophrenia, susceptibility to, 17}	semapv:ManualMappingCuration	2024-02-08
DOID:9009163	ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION	skos:exactMatch	MIM:270500	ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND IMPAIRED INTELLECTUAL DEVELOPMENT	semapv:ManualMappingCuration	2018-05-08
DOID:9009164	Hereditary Congenital Facial Paresis 1	skos:exactMatch	MIM:601471	Facial paresis, hereditary congenital, 1	semapv:ManualMappingCuration	2017-10-03
DOID:9009165	Multiple mitochondrial dysfunctions syndrome 9B	skos:exactMatch	MIM:620887	Multiple mitochondrial dysfunctions syndrome 9B	semapv:ManualMappingCuration	2024-07-17
DOID:9009167	NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA	skos:exactMatch	MIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	semapv:ManualMappingCuration	2019-09-16
DOID:9009168	Shwachman-Diamond Syndrome 2	skos:exactMatch	MIM:617941	Shwachman-Diamond syndrome 2	semapv:ManualMappingCuration	2018-06-01
DOID:9009169	LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA	skos:exactMatch	MIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia	semapv:ManualMappingCuration	2018-06-19
DOID:9009171	Primary Autosomal Recessive Microcephaly 21	skos:exactMatch	MIM:617983	Microcephaly 21, primary, autosomal recessive	semapv:ManualMappingCuration	2018-06-19
DOID:9009172	Primary Autosomal Recessive Microcephaly 22	skos:exactMatch	MIM:617984	Microcephaly 22, primary, autosomal recessive	semapv:ManualMappingCuration	2018-06-19
DOID:9009173	Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures	skos:exactMatch	MIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	semapv:ManualMappingCuration	2018-06-19
DOID:9009174	MHC CLASS II DEFICIENCY 5	skos:exactMatch	MIM:620818	?MHC class II deficiency 5	semapv:ManualMappingCuration	2024-08-19
DOID:9009175	Visceral Myopathy 2	skos:exactMatch	MIM:619350	Visceral myopathy 2	semapv:ManualMappingCuration	2021-05-28
DOID:9009176	VERVERI-BRADY SYNDROME	skos:exactMatch	MIM:617982	Ververi-Brady syndrome	semapv:ManualMappingCuration	2018-06-19
DOID:9009177	Spinocerebellar Ataxia 51	skos:exactMatch	MIM:620947	Spinocerebellar ataxia 51	semapv:ManualMappingCuration	2024-09-23
DOID:9009179	MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND	skos:exactMatch	MIM:620939	Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities	semapv:ManualMappingCuration	2024-10-11
DOID:9009180	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED	skos:exactMatch	MIM:301056	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	semapv:ManualMappingCuration	2021-03-15
DOID:9009182	Developmental Delay with or without Dysmorphic Facies and Autism	skos:exactMatch	MIM:618454	Developmental delay with or without dysmorphic facies and autism	semapv:ManualMappingCuration	2019-09-10
DOID:9009188	Hypertrophic Cardiomyopathy 27	skos:exactMatch	MIM:618052	Cardiomyopathy, familial hypertrophic 27	semapv:ManualMappingCuration	2018-08-13
DOID:9009189	Congenital Hydrocephalus 3, with Brain Anomalies	skos:exactMatch	MIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	semapv:ManualMappingCuration	2018-08-13
DOID:9009190	Karayol-Borroto-Haghshenas Neurodevelopmental Syndrome	skos:exactMatch	MIM:620985	Karayol-Borroto-Haghshenas neurodevelopmental syndrome	semapv:ManualMappingCuration	2024-10-18
DOID:9009191	Progressive Familial Intrahepatic Cholestasis 13	skos:exactMatch	MIM:620962	Cholestasis, progressive familial intrahepatic, 13	semapv:ManualMappingCuration	2024-10-11
DOID:9009192	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA	skos:exactMatch	MIM:618060	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	semapv:ManualMappingCuration	2018-08-15
DOID:9009194	Autosomal Dominant Intellectual Developmental Disorder 57	skos:exactMatch	MIM:618050	Intellectual developmental disorder, autosomal dominant 57	semapv:ManualMappingCuration	2018-08-15
DOID:9009196	Cerebellar Atrophy with Seizures and Variable Developmental Delay	skos:exactMatch	MIM:618501	Cerebellar atrophy with seizures and variable developmental delay	semapv:ManualMappingCuration	2019-08-13
DOID:9009197	Alternating Hemiplegia of Childhood 1	skos:exactMatch	MIM:104290	Alternating hemiplegia of childhood 1	semapv:ManualMappingCuration	2017-10-03
DOID:9009200	Postaxial Polydactyly, Type A7	skos:exactMatch	MIM:617642	Polydactyly, postaxial, type A7	semapv:ManualMappingCuration	2018-08-16
DOID:9009203	Gastrointestinal defects and immunodeficiency syndrome	skos:exactMatch	MIM:PS243150	Gastrointestinal defects and immunodeficiency syndrome	semapv:ManualMappingCuration	2024-08-23
DOID:9009204	SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME	skos:exactMatch	MIM:616682	Seizures, scoliosis, and macrocephaly syndrome	semapv:ManualMappingCuration	2018-08-17
DOID:9009205	Bronchiectasis and Nasal Polyposis	skos:exactMatch	MIM:620984	Bronchiectasis and nasal polyposis	semapv:ManualMappingCuration	2024-10-18
DOID:9009206	Microphthalmia/Coloboma 13	skos:exactMatch	MIM:620968	Microphthalmia/coloboma 13	semapv:ManualMappingCuration	2024-10-11
DOID:9009208	Gingival Fibromatosis 6	skos:exactMatch	MIM:620999	?Fibromatosis, gingival 6	semapv:ManualMappingCuration	2024-11-05
DOID:9009209	Immunodeficiency 128	skos:exactMatch	MIM:620983	?Immunodeficiency 128	semapv:ManualMappingCuration	2024-10-25
DOID:9009211	Pancreatic Agenesis 3	skos:exactMatch	MIM:620991	Pancreatic agenesis 3	semapv:ManualMappingCuration	2024-11-04
DOID:9009212	ACTH-independent Macronodular Adrenal Hyperplasia 3	skos:exactMatch	MIM:620990	{ACTH-independent macronodular adrenal hyperplasia 3}	semapv:ManualMappingCuration	2024-11-04
DOID:9009213	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES	skos:exactMatch	MIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	semapv:ManualMappingCuration	2018-09-12
DOID:9009214	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	skos:exactMatch	MIM:618092	Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities	semapv:ManualMappingCuration	2018-09-12
DOID:9009217	Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2	skos:exactMatch	MIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	semapv:ManualMappingCuration	2018-09-12
DOID:9009218	MIRAGE Syndrome	skos:exactMatch	MIM:617053	MIRAGE syndrome	semapv:ManualMappingCuration	2018-09-12
DOID:9009220	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	skos:exactMatch	MIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	semapv:ManualMappingCuration	2018-09-13
DOID:9009221	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM	skos:exactMatch	MIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	semapv:ManualMappingCuration	2018-09-13
DOID:9009224	IMMUNODEFICIENCY 125	skos:exactMatch	MIM:620926	?Immunodeficiency 125	semapv:ManualMappingCuration	2024-09-17
DOID:9009225	Episodic Kinesigenic Dyskinesia	skos:exactMatch	MIM:PS128200	Episodic kinesigenic dyskinesia 1	semapv:ManualMappingCuration	2024-05-03
DOID:9009229	Homocystinuria-megaloblastic anemia cblD type	skos:exactMatch	MIM:620952	Homocystinuria-megaloblastic anemia, cblD type	semapv:ManualMappingCuration	2024-10-03
DOID:9009231	Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits	skos:exactMatch	MIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	semapv:ManualMappingCuration	2018-09-14
DOID:9009232	Retinitis Pigmentosa 98	skos:exactMatch	MIM:620996	Retinitis pigmentosa 98	semapv:ManualMappingCuration	2024-11-05
DOID:9009233	Immunodeficiency 127	skos:exactMatch	MIM:620977	?Immunodeficiency 127	semapv:ManualMappingCuration	2024-10-18
DOID:9009234	Hypomyelinating Leukodystrophy 28	skos:exactMatch	MIM:620978	?Leukodystrophy, hypomyelinating, 28	semapv:ManualMappingCuration	2024-10-18
DOID:9009235	Extraoral Halitosis due to Methanethiol Oxidase Deficiency	skos:exactMatch	MIM:618148	Extraoral halitosis due to MTO deficiency	semapv:ManualMappingCuration	2019-01-14
DOID:9009236	POLYCYSTIC KIDNEY DISEASE 8	skos:exactMatch	MIM:620903	Polycystic kidney disease 8	semapv:ManualMappingCuration	2024-09-19
DOID:9009237	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY	skos:exactMatch	MIM:618213	Inflammatory bowel disease, immunodeficiency, and encephalopathy	semapv:ManualMappingCuration	2019-01-14
DOID:9009238	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES	skos:exactMatch	MIM:618147	?Intellectual developmental disorder with hypertelorism and distinctive facies	semapv:ManualMappingCuration	2019-01-15
DOID:9009239	Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay	skos:exactMatch	MIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	semapv:ManualMappingCuration	2019-01-15
DOID:9009240	Isolated Growth Hormone Deficiency Type V	skos:exactMatch	MIM:618160	Pituitary hormone deficiency, combined or isolated, 7	semapv:ManualMappingCuration	2019-01-15
DOID:9009241	Liddle Syndrome 3	skos:exactMatch	MIM:618126	?Liddle syndrome 3	semapv:ManualMappingCuration	2019-01-15
DOID:9009243	Primary Autosomal Recessive Microcephaly 24	skos:exactMatch	MIM:618179	?Microcephaly 24, primary, autosomal recessive	semapv:ManualMappingCuration	2019-01-15
DOID:9009244	Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome	skos:exactMatch	MIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	semapv:ManualMappingCuration	2019-01-15
DOID:9009245	Congenital Myasthenic Syndrome 23	skos:exactMatch	MIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	semapv:ManualMappingCuration	2019-01-15
DOID:9009246	Congenital Myasthenic Syndrome 24	skos:exactMatch	MIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	semapv:ManualMappingCuration	2019-01-15
DOID:9009247	Autosomal Dominant Intellectual Developmental Disorder 75	skos:exactMatch	MIM:620988	Intellectual developmental disorder, autosomal dominant 75	semapv:ManualMappingCuration	2024-11-05
DOID:9009248	Orofaciodigital Syndrome XXI	skos:exactMatch	MIM:301132	Orofaciodigital syndrome XXI	semapv:ManualMappingCuration	2024-11-04
DOID:9009249	Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 2	skos:exactMatch	MIM:620971	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2	semapv:ManualMappingCuration	2024-10-25
DOID:9009251	Oocyte Maturation Defect 5	skos:exactMatch	MIM:617996	Oocyte/zygote/embryo maturation arrest 5	semapv:ManualMappingCuration	2019-01-15
DOID:9009252	Orthostatic Hypotension 2	skos:exactMatch	MIM:618182	Orthostatic hypotension 2	semapv:ManualMappingCuration	2019-01-16
DOID:9009253	Autosomal Dominant Osteopetrosis 3	skos:exactMatch	MIM:618107	Osteopetrosis, autosomal dominant 3	semapv:ManualMappingCuration	2019-01-16
DOID:9009254	Monosomy 7 Myelodysplasia and Leukemia Syndrome	skos:exactMatch	MIM:PS252270	Monosomy 7 myelodysplasia and leukemia syndrome 1	semapv:ManualMappingCuration	2021-05-12
DOID:9009255	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES	skos:exactMatch	MIM:618019	Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly	semapv:ManualMappingCuration	2019-01-16
DOID:9009258	Primary Ovarian Insufficiency 25	skos:exactMatch	MIM:621002	Premature ovarian failure 25	semapv:ManualMappingCuration	2024-11-12
DOID:9009259	Spermatogenic Failure 96	skos:exactMatch	MIM:621001	Spermatogenic failure 96	semapv:ManualMappingCuration	2024-11-12
DOID:9009260	Non-syndromic X-linked intellectual developmental disorder 114	skos:exactMatch	MIM:301134	Intellectual developmental disorder, X-linked 114	semapv:ManualMappingCuration	2024-11-12
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:152700	{Lupus nephritis, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:300809	{Systemic lupus erythematosus, susceptibility to, 15}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:601744	{Systemic lupus erythematosus, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:605218	{Systemic lupus erythematosus, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:605480	{Systemic lupus erythematosus, susceptibility to, 3}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:607279	{Systemic lupus erythematosus with hemolytic anemia}	semapv:ManualMappingCuration	2014-06-23
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:608437	{Systemic lupus erythematosus, susceptibility to, 4}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:609903	{Systemic lupus erythematosus, susceptibility to, 5}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:609939	{Systemic lupus erythematosus, susceptibility to, 6}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:610065	{Systemic lupus erythematosus, susceptibility to, 7}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:610066	{Systemic lupus erythematosus, susceptibility to, 8}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:610927	{Systemic lupus erythematosus, susceptibility to, 9}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:612251	{Systemic lupus erythematosus, susceptibility to, 10}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:612253	{Systemic lupus erythematosus, susceptibility to, 11}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:612254	{Systemic lupus erythematosus, susceptibility to, 12}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:612378	{Systemic lupus erythematosus, susceptibility to, 13}	semapv:ManualMappingCuration	2017-10-03
DOID:9074	systemic lupus erythematosus	skos:exactMatch	MIM:613145	{Systemic lupus erythematosus, susceptibility to, 14}	semapv:ManualMappingCuration	2017-10-03
DOID:9119	acute myeloid leukemia	skos:exactMatch	MIM:601626	Leukemia, acute myeloid	semapv:ManualMappingCuration	2017-10-03
DOID:9146	visceral leishmaniasis	skos:exactMatch	MIM:608207	{Kala-azar, susceptibility to, 1}	semapv:ManualMappingCuration	2017-10-03
DOID:9146	visceral leishmaniasis	skos:exactMatch	MIM:611381	{Kala-azar, susceptibility to, 2}	semapv:ManualMappingCuration	2018-08-21
DOID:9146	visceral leishmaniasis	skos:exactMatch	MIM:611382	{Kala-azar, susceptibility to, 3}	semapv:ManualMappingCuration	2018-08-22
DOID:9146	visceral leishmaniasis	skos:exactMatch	MIM:PS608207	{Kala-azar, susceptibility to, 1}	semapv:ManualMappingCuration	2019-03-27
DOID:9155	mucocutaneous leishmaniasis	skos:exactMatch	MIM:602068	LEISHMANIASIS, TEGUMENTARY, SUSCEPTIBILITY TO	semapv:ManualMappingCuration	2022-12-06
DOID:9169	Wiskott-Aldrich syndrome	skos:exactMatch	MIM:301000	Wiskott-Aldrich syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9206	Barrett's esophagus	skos:exactMatch	MIM:614266	Barrett esophagus/esophageal adenocarcinoma	semapv:ManualMappingCuration	2014-10-20
DOID:9212	pityriasis rubra pilaris	skos:exactMatch	MIM:173200	Pityriasis rubra pilaris	semapv:ManualMappingCuration	2014-10-20
DOID:9220	central sleep apnea	skos:exactMatch	MIM:107640	APNEA, CENTRAL SLEEP	semapv:ManualMappingCuration	2018-08-22
DOID:9220	central sleep apnea	skos:exactMatch	MIM:207720	APNEA, CENTRAL SLEEP	semapv:ManualMappingCuration	2018-08-22
DOID:9240	erythromelalgia	skos:exactMatch	MIM:133020	Small fiber neuropathy	semapv:ManualMappingCuration	2017-10-03
DOID:9245	Alagille syndrome	skos:exactMatch	MIM:PS118450	Alagille syndrome 1	semapv:ManualMappingCuration	2019-03-19
DOID:9248	Pallister-Hall syndrome	skos:exactMatch	MIM:146510	Pallister-Hall syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9249	Beemer-Langer syndrome	skos:exactMatch	MIM:269860	SHORT-RIB THORACIC DYSPLASIA 12	semapv:ManualMappingCuration	2018-08-22
DOID:9250	acrocallosal syndrome	skos:exactMatch	MIM:200990	Acrocallosal syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9253	gastrointestinal stromal tumor	skos:exactMatch	MIM:606764	Gastrointestinal stromal tumor	semapv:ManualMappingCuration	2017-10-03
DOID:9255	frontotemporal dementia	skos:exactMatch	MIM:600274	Frontotemporal dementia 1, with or without parkinsonism	semapv:ManualMappingCuration	2017-10-03
DOID:9256	colorectal cancer	skos:exactMatch	MIM:114500	{Colorectal cancer, susceptibility to}	semapv:ManualMappingCuration	2020-02-25
DOID:9256	colorectal cancer	skos:exactMatch	MIM:608812	{Colorectal cancer, susceptibility to, 1}	semapv:ManualMappingCuration	2020-02-25
DOID:9256	colorectal cancer	skos:exactMatch	MIM:611469	{Colorectal cancer, susceptibility to, 2}	semapv:ManualMappingCuration	2020-02-25
DOID:9256	colorectal cancer	skos:exactMatch	MIM:612229	{Colorectal cancer, susceptibility to, 3}	semapv:ManualMappingCuration	2020-02-25
DOID:9256	colorectal cancer	skos:exactMatch	MIM:612230	{Colorectal cancer, susceptibility to, 5}	semapv:ManualMappingCuration	2020-02-25
DOID:9256	colorectal cancer	skos:exactMatch	MIM:612231	{Colorectal cancer, susceptibility to, 6}	semapv:ManualMappingCuration	2020-02-25
DOID:9256	colorectal cancer	skos:exactMatch	MIM:612232	{Colorectal cancer, susceptibility to, 7}	semapv:ManualMappingCuration	2020-02-25
DOID:9256	colorectal cancer	skos:exactMatch	MIM:612589	{Colorectal cancer, susceptibility to, 8}	semapv:ManualMappingCuration	2020-02-25
DOID:9256	colorectal cancer	skos:exactMatch	MIM:612590	{Colorectal cancer, susceptibility to, 9}	semapv:ManualMappingCuration	2020-02-25
DOID:9256	colorectal cancer	skos:exactMatch	MIM:612592	{Colorectal cancer, susceptibility to, 11}	semapv:ManualMappingCuration	2020-02-25
DOID:9256	colorectal cancer	skos:exactMatch	MIM:615083	{Colorectal cancer, susceptibility to, 12}	semapv:ManualMappingCuration	2020-02-25
DOID:9258	Waardenburg syndrome	skos:exactMatch	MIM:PS193500	Waardenburg syndrome, type 1	semapv:ManualMappingCuration	2018-06-29
DOID:9261	nasopharynx carcinoma	skos:exactMatch	MIM:161550	{Nasopharyngeal carcinoma, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:9261	nasopharynx carcinoma	skos:exactMatch	MIM:607107	Nasopharyngeal carcinoma, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:9261	nasopharynx carcinoma	skos:exactMatch	MIM:617075	{Nasopharyngeal carcinoma, susceptibility to, 3}	semapv:ManualMappingCuration	2020-10-29
DOID:9263	homocystinuria	skos:exactMatch	MIM:236200	Thrombosis, hyperhomocysteinemic	semapv:ManualMappingCuration	2017-10-03
DOID:9266	cystinuria	skos:exactMatch	MIM:220100	Cystinuria	semapv:ManualMappingCuration	2017-10-03
DOID:9268	glycine encephalopathy	skos:exactMatch	MIM:PS605899	Glycine encephalopathy1	semapv:ManualMappingCuration	2023-06-14
DOID:9269	maple syrup urine disease	skos:exactMatch	MIM:615135	Maple syrup urine disease, mild variant	semapv:ManualMappingCuration	2017-10-10
DOID:9269	maple syrup urine disease	skos:exactMatch	MIM:PS248600	Maple syrup urine disease, type Ia	semapv:ManualMappingCuration	2019-03-26
DOID:9270	alkaptonuria	skos:exactMatch	MIM:203500	Alkaptonuria	semapv:ManualMappingCuration	2017-10-03
DOID:9271	ornithine carbamoyltransferase deficiency	skos:exactMatch	MIM:311250	Ornithine transcarbamylase deficiency	semapv:ManualMappingCuration	2014-06-23
DOID:9274	hyperlysinemia	skos:exactMatch	MIM:238700	Hyperlysinemia	semapv:ManualMappingCuration	2017-10-03
DOID:9274	hyperlysinemia	skos:exactMatch	MIM:238750	HYPERLYSINURIA WITH HYPERAMMONEMIA	semapv:ManualMappingCuration	2022-11-29
DOID:9275	tyrosinemia	skos:exactMatch	MIM:PS276700	Tyrosinemia, type I	semapv:ManualMappingCuration	2019-03-15
DOID:9277	primary cerebellar degeneration	skos:exactMatch	MIM:248800	Marinesco-Sjogren syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9278	hyperargininemia	skos:exactMatch	MIM:207800	Argininemia	semapv:ManualMappingCuration	2017-10-03
DOID:9279	hyperhomocysteinemia	skos:exactMatch	MIM:603174	HYPERHOMOCYSTEINEMIA	semapv:ManualMappingCuration	2017-10-03
DOID:9280	carbamoyl phosphate synthetase I deficiency disease	skos:exactMatch	MIM:237300	Carbamoylphosphate synthetase I deficiency	semapv:ManualMappingCuration	2017-10-03
DOID:9281	phenylketonuria	skos:exactMatch	MIM:261600	[Hyperphenylalaninemia, non-PKU mild]	semapv:ManualMappingCuration	2017-10-03
DOID:9352	type 2 diabetes mellitus	skos:exactMatch	MIM:125853	{Diabetes mellitus, noninsulin-dependent, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:936	brain disease	skos:exactMatch	MIM:614212	{Encephalopathy, acute, infection-induced, 4, susceptibility to}	semapv:ManualMappingCuration	2017-10-10
DOID:936	brain disease	skos:exactMatch	MIM:PS610551	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}	semapv:ManualMappingCuration	2019-03-27
DOID:936	brain disease	skos:exactMatch	MIM:PS614388	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	semapv:ManualMappingCuration	2019-03-27
DOID:9410	panhypopituitarism	skos:exactMatch	MIM:PS613038	Pituitary hormone deficiency, combined or isolated, 1	semapv:ManualMappingCuration	2019-05-01
DOID:9467	nail-patella syndrome	skos:exactMatch	MIM:161200	Nail-patella syndrome	semapv:ManualMappingCuration	2017-10-03
DOID:9487	Meckel's diverticulum	skos:exactMatch	MIM:155140	MECKEL DIVERTICULUM	semapv:ManualMappingCuration	2018-08-22
DOID:9521	Laron syndrome	skos:exactMatch	MIM:262500	Laron dwarfism	semapv:ManualMappingCuration	2017-10-03
DOID:9538	multiple myeloma	skos:exactMatch	MIM:254500	{Multiple myeloma, susceptibility to}	semapv:ManualMappingCuration	2017-10-03
DOID:9562	primary ciliary dyskinesia	skos:exactMatch	MIM:PS244400	Ciliary dyskinesia, primary, 1, with or without situs inversus	semapv:ManualMappingCuration	2018-06-29
DOID:9563	bronchiectasis	skos:exactMatch	MIM:PS211400	{Bronchiectasis with or without elevated sweat chloride 1, modifier of}	semapv:ManualMappingCuration	2019-03-20
DOID:9620	vesicoureteral reflux	skos:exactMatch	MIM:193000	Vesicoureteral reflux 1	semapv:ManualMappingCuration	2017-10-03
DOID:9620	vesicoureteral reflux	skos:exactMatch	MIM:614317	Vesicoureteral reflux 4	semapv:ManualMappingCuration	2018-08-21
DOID:9620	vesicoureteral reflux	skos:exactMatch	MIM:PS193000	Vesicoureteral reflux 1	semapv:ManualMappingCuration	2019-03-27
DOID:963	episodic ataxia	skos:exactMatch	MIM:PS160120	Episodic ataxia/myokymia syndrome	semapv:ManualMappingCuration	2019-03-26
DOID:9631	Pelger-Huet anomaly	skos:exactMatch	MIM:169400	Pelger-Huet anomaly	semapv:ManualMappingCuration	2017-10-03
DOID:9649	congenital nystagmus	skos:exactMatch	MIM:PS310700	Nystagmus 1, congenital, X-linked	semapv:ManualMappingCuration	2019-03-15
DOID:9719	neovascular inflammatory vitreoretinopathy	skos:exactMatch	MIM:193235	Vitreoretinopathy, neovascular inflammatory	semapv:ManualMappingCuration	2014-06-23
DOID:9744	type 1 diabetes mellitus	skos:exactMatch	MIM:222100	{Type 1 diabetes mellitus}	semapv:ManualMappingCuration	2017-10-03
DOID:9744	type 1 diabetes mellitus	skos:exactMatch	MIM:300136	{Diabetes mellitus, insulin-dependent, X-linked}	semapv:ManualMappingCuration	2014-06-23
DOID:980	choroidal sclerosis	skos:exactMatch	MIM:215500	?Choroidal dystrophy, central areolar 1	semapv:ManualMappingCuration	2017-10-03
DOID:980	choroidal sclerosis	skos:exactMatch	MIM:PS215500	?Choroidal dystrophy, central areolar 1	semapv:ManualMappingCuration	2019-03-27
DOID:9808	Goodpasture syndrome	skos:exactMatch	MIM:233450	GOODPASTURE SYNDROME	semapv:ManualMappingCuration	2018-08-21
DOID:9821	Choroideremia	skos:exactMatch	MIM:303100	Choroideremia	semapv:ManualMappingCuration	2017-10-03
DOID:9827	radioulnar synostosis	skos:exactMatch	MIM:179300	{Radioulnar synostosis, nonsyndromic}	semapv:ManualMappingCuration	2018-08-22
DOID:9849	Meniere's disease	skos:exactMatch	MIM:156000	MENIERE DISEASE	semapv:ManualMappingCuration	2018-08-22
DOID:9869	hereditary fructose intolerance syndrome	skos:exactMatch	MIM:229600	Fructose intolerance, hereditary	semapv:ManualMappingCuration	2017-10-03
DOID:987	alopecia	skos:exactMatch	MIM:109200	Alopecia, androgenetic, 1	semapv:ManualMappingCuration	2017-10-03
DOID:987	alopecia	skos:exactMatch	MIM:300042	ALOPECIA, CONGENITAL	semapv:ManualMappingCuration	2018-08-21
DOID:987	alopecia	skos:exactMatch	MIM:PS203655	Alopecia universalis	semapv:ManualMappingCuration	2019-03-27
DOID:9870	galactosemia	skos:exactMatch	MIM:PS230400	Galactosemia	semapv:ManualMappingCuration	2017-10-03
DOID:988	mitral valve prolapse	skos:exactMatch	MIM:PS157700	Mitral valve prolapse, myxomatous 1	semapv:ManualMappingCuration	2019-03-27
DOID:9883	Becker muscular dystrophy	skos:exactMatch	MIM:300376	Becker muscular dystrophy	semapv:ManualMappingCuration	2018-02-28
DOID:9892	median arcuate ligament syndrome	skos:exactMatch	MIM:116870	CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT OF DIAPHRAGM	semapv:ManualMappingCuration	2022-11-15
DOID:990	congenital heart block	skos:exactMatch	MIM:234700	HEART BLOCK, CONGENITAL	semapv:ManualMappingCuration	2018-08-21
DOID:9952	acute lymphoblastic leukemia	skos:exactMatch	MIM:613065	Leukemia, acute lymphoblastic, somatic	semapv:ManualMappingCuration	2017-10-03
DOID:9952	acute lymphoblastic leukemia	skos:exactMatch	MIM:613067	{Leukemia, acute lymphoblastic, susceptibility to, 2}	semapv:ManualMappingCuration	2017-10-03
DOID:9952	acute lymphoblastic leukemia	skos:exactMatch	MIM:615545	{Leukemia, acute lymphoblastic, susceptibility to, 3}	semapv:ManualMappingCuration	2015-07-06
DOID:9953	acute biphenotypic leukemia	skos:exactMatch	MIM:159555	Wiedemann-Steiner syndrome	semapv:ManualMappingCuration	2014-10-20
DOID:9955	hypoplastic left heart syndrome	skos:exactMatch	MIM:PS241550	HYPOPLASTIC LEFT HEART SYNDROME 1	semapv:ManualMappingCuration	2019-03-19
DOID:9970	obesity	skos:exactMatch	MIM:601665	{Obesity, association with}	semapv:ManualMappingCuration	2017-10-03
DOID:9972	hypervitaminosis A	skos:exactMatch	MIM:240150	HYPERVITAMINOSIS A, SUSCEPTIBILITY TO	semapv:ManualMappingCuration	2022-11-14
DOID:999	hypereosinophilic syndrome	skos:exactMatch	MIM:607685	Hypereosinophilic syndrome, idiopathic, resistant to imatinib	semapv:ManualMappingCuration	2017-10-03
DOID:9997	peripartum cardiomyopathy	skos:exactMatch	MIM:614670	PERIPARTUM CARDIOMYOPATHY, SUSCEPTIBILITY TO	semapv:ManualMappingCuration	2022-12-16