About: otofaciocervical syndrome

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

medical condition

Attributes	Values
rdf:type	Item
description	medical condition (en) медичний стан (uk)
exact match	wds:Q55781325-D2E661AD-66BE-46B6-A758-25ACA0736810
exact match	http://www.orpha.net/ORDO/Orphanet_2792
Mondo ID	wds:Q55781325-62DAF3E3-639F-4872-8CE2-770E64DD32A6
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008163
Mondo ID	MONDO_0008163
rdfs:label	Oto-fazio-zervikales Syndrom (de) Otofasiyoservikal sendrom (tr) Syndrome oto-facio-cervical (fr) otofaciocervical syndrome (en)
skos:prefLabel	Oto-fazio-zervikales Syndrom (de) Otofasiyoservikal sendrom (tr) Syndrome oto-facio-cervical (fr) otofaciocervical syndrome (en)
name	Oto-fazio-zervikales Syndrom (de) Otofasiyoservikal sendrom (tr) Syndrome oto-facio-cervical (fr) otofaciocervical syndrome (en)
instance of	wds:Q55781325-00505604-8219-49B5-AE1C-9131E737C60B wds:Q55781325-4F0E5747-2A6D-4D31-A1BE-325895445B8E wds:Q55781325-DB003B6B-3F59-41A3-915A-01054B376D9D
instance of	class of disease rare disease developmental defect during embryogenesis
said to be the same as	wds:Q55781325-EC40AAF2-A9EB-403A-981E-708861C5A190
said to be the same as	Fara–Chlupackova syndrome
subclass of	wds:Q55781325-160FD0CA-DC18-488D-B9B2-F00986A7CDA5 wds:Q55781325-DB4053C6-52D8-4634-9075-C817E103C73F
subclass of	rare genetic developmental defect during embryogenesis branchial arch or oral-acral syndrome
KEGG ID	wds:Q55781325-C6100452-7DD7-4C99-93D5-5198BF60F5F0
KEGG ID	http://www.kegg.jp/entry/H02046
KEGG ID	H02046
Orphanet ID	wds:Q55781325-303648E5-5BBB-4048-A9B7-F34DE978D50F
genetic association	wds:Q55781325-74EE0CE5-2770-465E-BBFC-8A4D3103046E wds:Q55781325-AF011854-91D2-450E-BF5E-4B12F5B0683D
ICD-10-CM	wds:Q55781325-AB590950-4B09-4F53-BA76-82586ED0A5D1
GARD rare disease ID	wds:Q55781325-7B6CA9CC-5247-4D7A-86E7-C1CD30EEAFE1
Orphanet ID	2792
genetic association	EYA1 PAX1
ICD-10-CM	Q87.0
GARD rare disease ID	4169
skos:altLabel	Fara-Chlupackova syndrome (en) OFC syndrome (en) Otofaciocervical syndrome (en)
UMLS CUI	wds:Q55781325-0D6485D9-144A-4972-B966-1BFED2739DBD wds:Q55781325-262B2070-1721-4E34-8A8D-6AFA01934197 wds:Q55781325-9B648A9A-3F94-44A7-AB7E-18D2E4F975E8
UMLS CUI	C3714941 C1833691 C2931416
is owl:sameAs of	otofaciocervical syndrome otofaciocervical syndrome otofaciocervical syndrome
is about of	https://de.wikipedia.org/wiki/Oto-fazio-zervikales_Syndrom https://www.wikidata.org/wiki/Special:EntityData/Q55781325 Otofaciocervical syndrome https://tr.wikipedia.org/wiki/Otofasiyoservikal_sendrom
is said to be the same as of	Fara–Chlupackova syndrome
is said to be the same as of	wds:Q56014593-b38fcbb0-4465-ec0e-4440-b735d2472903
is subclass of of	otofaciocervical syndrome 1 otofaciocervical syndrome 2
is subclass of of	wds:Q56014630-711f8120-44b4-6498-51a5-15b734276bf5 wds:Q56003316-612448a3-4ab1-3df2-1248-079bad0e8c64
is main subject of	Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
is main subject of	wds:Q46133366-512B6919-D7C5-4D1B-B4CA-4B5E0E1BB350 wds:Q28202178-8F2B39EE-66CE-4807-874E-57679CE5F281 wds:Q48212175-786A7F19-F5A3-4761-9387-19AFD6672A22 wds:Q92405522-5C72FC86-AE2A-44DA-8E76-498050A0B1CF wds:Q52571931-9AA91983-4FAD-48D6-ABDF-D7DC4446B789 wds:Q33682644-F719393E-05DB-4554-812F-DDBCFA3B77A3
is genetic association of	EYA1 PAX1
is genetic association of	wds:Q17917742-AF0E6EA4-C603-4672-B859-5CAD72004E26 wds:Q18030353-BB7CA204-68C4-47AE-BC6C-B4A678C71852

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