About: heart defect-tongue hamartoma-polysyndactyly syndrome

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About: heart defect-tongue hamartoma-polysyndactyly 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:Q55781762-45C613C2-8E64-433F-BD44-2E93A4688C1A wds:Q55781762-B7017EB5-A7C5-470E-A394-CA4CA7A4F55A wds:Q55781762-C69DEDEF-27AD-46B7-9CB6-6269ED2F9707
exact match	http://www.orpha.net/ORDO/Orphanet_1338 http://purl.obolibrary.org/obo/DOID_0111591 http://identifiers.org/doid/DOID:0111591
Mondo ID	wds:Q55781762-D6336205-091D-4F92-BCC4-850AD2D91D81
Disease Ontology ID	wds:Q55781762-3ADBD5C0-18B2-47F2-92A6-95C4FED88669
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009008
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111591
Mondo ID	MONDO_0009008
Disease Ontology ID	DOID:0111591
rdfs:label	heart defect-tongue hamartoma-polysyndactyly syndrome (en)
skos:prefLabel	heart defect-tongue hamartoma-polysyndactyly syndrome (en)
name	heart defect-tongue hamartoma-polysyndactyly syndrome (en)
instance of	wds:Q55781762-9D95D0DB-CF05-4D90-8995-8A8AC07D4633 wds:Q55781762-D735A24C-D1FD-480C-AF8B-7B93EF878FA9 wds:Q55781762-F30EBFF8-3169-40A4-94A7-776FDB498923
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q55781762-4D3C6CAF-8B70-4C5A-9589-8AFED362BC48 wds:Q55781762-69E6DE1C-5EA6-4AA4-B035-A8D0E2D1996B wds:Q55781762-9E393C07-3B4D-496B-863C-ADD5B2903C64 wds:Q55781762-F02F3919-11CE-4843-92C9-56FEC569E18E
subclass of	syndrome autosomal recessive disease multiple congenital anomalies/dysmorphic syndrome without intellectual disability rare genetic developmental defect during embryogenesis
KEGG ID	wds:Q55781762-352A7F03-D1E1-45F7-90CF-5768924C826E
KEGG ID	http://www.kegg.jp/entry/H02455
KEGG ID	H02455
UniProt disease ID	wds:Q55781762-6a288cb2-4d8f-2023-7594-b5dbb68bcc60
Orphanet ID	wds:Q55781762-750D6EA6-2CEE-4EBA-B827-594903424B95
genetic association	wds:Q55781762-0DD8F6F5-B0D0-40EE-B278-487C643A4FCE
ICD-10-CM	wds:Q55781762-9B5B28BC-395E-4A32-9BEC-256268EDF115
GARD rare disease ID	wds:Q55781762-56DE5B22-F398-4A82-8AB3-66E9A3E77F26
OMIM ID	wds:Q55781762-EFE637B3-4947-4783-9D99-6600E1A10555
UniProt disease ID	DI-04320
Orphanet ID	1338
genetic association	WDPCP
ICD-10-CM	Q87.8
GARD rare disease ID	2612
OMIM ID	217085
skos:altLabel	CHDTHP (en) Ostravik-Lindemann-Solberg syndrome (en) CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (en) congenital heart defects, hamartomas of tongue, and polysyndactyly (en) CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP (en)
UMLS CUI	wds:Q55781762-6320C243-6624-423E-9185-70F8BFB9A8C2 wds:Q55781762-E2392D18-05EE-4A94-8BC3-8DAC092492CF
MeSH descriptor ID	wds:Q55781762-5D89A9F3-4F65-4C27-A6C8-9182C24B09A7
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535849
UMLS CUI	C1857587 C2931046
MeSH descriptor ID	C535849
is owl:sameAs of	heart defect-tongue hamartoma-polysyndactyly syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55781762 Ostravik-Lindemann-Solberg syndrome
is genetic association of	WDPCP
is genetic association of	wds:Q18039945-F980CA2E-84A6-4E97-B1E0-510DCB918B24

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