About: chondrodysplasia-pseudohermaphroditism syndrome

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About: chondrodysplasia-pseudohermaphroditism syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia

Attributes	Values
rdf:type	Item
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia (en)
exact match	wds:Q27674741-8C183DB1-F9F0-44BF-9FB7-A4080949657D wds:Q27674741-8D8F817C-CA77-4558-B8E0-525F67B86D3E
exact match	http://purl.obolibrary.org/obo/DOID_0060644 http://identifiers.org/doid/DOID:0060644
health specialty	wds:Q27674741-3523C39F-ECCF-4C4B-AC15-0487B8F4B7DE
Mondo ID	wds:Q27674741-210B6DD0-9F76-4EB3-9B72-5B301D2AE4C4
Disease Ontology ID	wds:Q27674741-79D9809D-0299-4945-A397-EEC533253A04
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010814
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060644
health specialty	medical genetics
Mondo ID	MONDO_0010814
Disease Ontology ID	DOID:0060644
rdfs:label	chondrodysplasia-pseudohermaphroditism syndrome (en) syndrome de chondrodysplasie-anomalie du développement sexuel (fr)
skos:prefLabel	chondrodysplasia-pseudohermaphroditism syndrome (en) syndrome de chondrodysplasie-anomalie du développement sexuel (fr)
name	chondrodysplasia-pseudohermaphroditism syndrome (en) syndrome de chondrodysplasie-anomalie du développement sexuel (fr)
instance of	wds:Q27674741-39DA8D7C-C4DF-4F20-85D8-BCE6491E5D88 wds:Q27674741-61638F88-A7AB-413D-A4D6-5A4431B84B41
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q27674741-04562AE1-6AE2-48E6-A2DC-4E4A5C06766D wds:Q27674741-118cb41d-471b-0e58-d4a3-f1606b6c05ce wds:Q27674741-46ED0BFD-1EE4-4F33-BEA9-8D7BF8B19576 wds:Q27674741-6ed4eaee-4c44-569e-497e-b62d13421cea wds:Q27674741-A6562C9A-B77C-487E-900B-CD9FF90C12B7 wds:Q27674741-AD0390D4-FE8F-43FC-8AD1-4DC9B65B68EE
subclass of	syndrome pseudohermaphroditism primary bone dysplasia with micromelia chondrodysplasia syndrome with disorder of sex development of gynecological interest syndrome with 46,XY disorder of sex development
UniProt disease ID	wds:Q27674741-38c316ab-4601-743f-21a6-7b2658ae564f
Orphanet ID	wds:Q27674741-2937EECD-0B6C-4084-8735-A3E68AEDAA0A
ICD-10-CM	wds:Q27674741-004BCDFF-F866-410D-8130-20F6048C83BD
OMIM ID	wds:Q27674741-D9A33277-9E66-49D5-91BB-B26204610C3E
UniProt disease ID	DI-05999
Orphanet ID	1422
ICD-10-CM	Q87.1
OMIM ID	600092
skos:altLabel	chondrodysplasia-disorder of sex development syndrome (en) Chondrodysplasia-pseudohermaphroditism syndrome (en) Nivelon-Nivelon-Mabille syndrome (en)
UMLS CUI	wds:Q27674741-E63F664E-89AD-488A-BDC5-DAF00E5B1229
MeSH descriptor ID	wds:Q27674741-5828B1DE-1D1B-49DC-AA9D-80E5A25B8093 wds:Q27674741-F4E0A11A-01F9-4246-B05D-7140C73D021F
on focus list of Wikimedia project	wds:Q27674741-F2142397-97B9-4B6B-9B4D-8CC7FF9DD3B7
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536123
UMLS CUI	C1838654
MeSH descriptor ID	C536123
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q27674741

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