About: anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

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About: anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome Goto Sponge NotDistinct Permalink

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

human disease

Attributes	Values
rdf:type	Item
description	human disease (en) хвороба людини (uk)
exact match	wds:Q55785345-0048B649-F18A-4DC7-A634-1B32DD695386
exact match	http://www.orpha.net/ORDO/Orphanet_1101
Mondo ID	wds:Q55785345-9B1AFDB8-F179-4C4D-BE62-3C3D43F4F141
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0022463
Mondo ID	MONDO_0022463
rdfs:label	anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome (en) sindrom anoftalmije, megalokornee, kardiopatije in skeletnih nepravilnosti (sl)
skos:prefLabel	anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome (en) sindrom anoftalmije, megalokornee, kardiopatije in skeletnih nepravilnosti (sl)
name	anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome (en) sindrom anoftalmije, megalokornee, kardiopatije in skeletnih nepravilnosti (sl)
instance of	wds:Q55785345-32319F9D-9662-429F-8970-7246E99EFAB3 wds:Q55785345-E5248794-B1B7-4383-B265-1566BE900581
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q55785345-04BD3795-B5B0-419B-B38F-A0CEDD110316 wds:Q55785345-B11D5B91-FEF0-46D0-844D-D9AE89C61D2B
subclass of	multiple congenital anomalies/dysmorphic syndrome without intellectual disability rare genetic developmental defect during embryogenesis
Orphanet ID	wds:Q55785345-B2F47D05-BF46-4B4E-A8DB-BF239BE35253
ICD-10-CM	wds:Q55785345-0D3F5440-877F-4E79-96B0-E394DF291C20
GARD rare disease ID	wds:Q55785345-8A71B0C7-24F1-456A-9C4B-23BACBE53792
Orphanet ID	1101
ICD-10-CM	Q87.8
GARD rare disease ID	717
skos:altLabel	Cassia Stocco dos Santos syndrome (en) anophthalmia megalocornea cardiopathy skeletal anomalies (en) Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome (en)
UMLS CUI	wds:Q55785345-F5ADD0FC-22FD-4134-BFD0-0FDBEC8BDAC2
UMLS CUI	C4304035
is owl:sameAs of	anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55785345 Anophthalmia megalocornea cardiopathy skeletal anomalies syndrome

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