About: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

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About: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Goto Sponge NotDistinct Permalink

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

rare genetic disorder

Attributes	Values
rdf:type	Item
description	rare genetic disorder (en)
health specialty	wds:Q69642903-A150DB5C-672F-4889-A1CF-45ECAD739D2D
Mondo ID	wds:Q69642903-F8A62A65-A428-491B-8868-4300178D53D2
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0044302
health specialty	medical genetics
Mondo ID	MONDO_0044302
rdfs:label	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (en) CDK13相关疾病 (zh) Gangguan terkait CDK13 (id) 先天性心脏病、面部异常及智力障碍相关疾病 (zh-cn) الاضطراب المرتبط بجين CDK13 (ar)
skos:prefLabel	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (en) CDK13相关疾病 (zh) Gangguan terkait CDK13 (id) 先天性心脏病、面部异常及智力障碍相关疾病 (zh-cn) الاضطراب المرتبط بجين CDK13 (ar)
name	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (en) CDK13相关疾病 (zh) Gangguan terkait CDK13 (id) 先天性心脏病、面部异常及智力障碍相关疾病 (zh-cn) الاضطراب المرتبط بجين CDK13 (ar)
instance of	wds:Q69642903-5d16bce0-42e3-dcb7-4b1d-c21a5978fbaf wds:Q69642903-96b317b6-4ef4-5b87-d136-1a4dade259b8
instance of	rare disease disease
subclass of	wds:Q69642903-d41b6930-4a86-f1c9-4cf3-a7c187c54b23
subclass of	congenital heart disease
Google Knowledge Graph ID	wds:Q69642903-61123F75-E00F-44AE-AA3B-E4CA6C79ED6C
KEGG ID	wds:Q69642903-B2807E46-B4F7-43CC-AE6F-775098F60A3A
Google Knowledge Graph ID	http://g.co/kg/g/11fq8scmtg
KEGG ID	http://www.kegg.jp/entry/H02454
Google Knowledge Graph ID	/g/11fq8scmtg
KEGG ID	H02454
UniProt disease ID	wds:Q69642903-92c4f3ae-4109-7103-0041-2d876e7b182e
genetic association	wds:Q69642903-a56a0caa-40ca-e4ff-6e90-277162802beb
OMIM ID	wds:Q69642903-7c3f2b37-46f7-6424-cd8a-805925638ff5
GeneReviews ID	wds:Q69642903-4291E7DF-722C-42DD-9440-66B816098A86
UniProt disease ID	DI-04952
genetic association	CDK13
OMIM ID	617360
GeneReviews ID	NBK536784
Commons category	wds:Q69642903-1dcce5fb-1e11-43cf-9266-14144dab72a0
Commons category	CDK13-related disorder
skos:altLabel	CDK13-related disorder (en) CHDFIDD (en) CDK13相关疾病 (zh-cn) Congenital heart defects, dysmorphic facial features and intellectual developmental disorder (en)
UMLS CUI	wds:Q69642903-8F4B1404-0CB1-43F2-9F11-016A2F5CA895
UMLS CUI	CL761115
is owl:sameAs of	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q69642903 CDK13-related disorder https://zh.wikipedia.org/wiki/CDK13%E7%9B%B8%E5%85%B3%E7%96%BE%E7%97%85 Category:CDK13-related disorder https://ar.wikipedia.org/wiki/%D8%A7%D9%84%D8%A7%D8%B6%D8%B7%D8%B1%D8%A7%D8%A8_%D8%A7%D9%84%D9%85%D8%B1%D8%AA%D8%A8%D8%B7_%D8%A8%D8%AC%D9%8A%D9%86_CDK13 https://id.wikipedia.org/wiki/Gangguan_terkait_CDK13
is main subject of	One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature
is main subject of	wds:Q92294538-BE13EFA8-6232-4FAB-AB91-33FD90EC9A41
is genetic association of	CDK13
is genetic association of	wds:Q18033160-8beb78b8-44bd-5b8d-fd04-dc069fccc4d4

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