About: Congenital contractural arachnodactyly

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About: Congenital contractural arachnodactyly 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) מצב רפואי (he) մարդու հիվանդություն (hy) хвороба людини (uk) 一種遺傳疾病 (zh-hant)
exact match	wds:Q3508618-40763A67-5AEA-4036-867C-0F09934CE04E wds:Q3508618-7D469550-2D80-46DD-9665-456646A82E7E
exact match	http://purl.obolibrary.org/obo/DOID_0111595 http://identifiers.org/doid/DOID:0111595
Mondo ID	wds:Q3508618-5537AA58-7818-4987-AC47-1EA35C7B7A3F
DiseasesDB	wds:Q3508618-89329B15-3014-456E-813D-EF5F00A29FB7
Disease Ontology ID	wds:Q3508618-7859C687-8C33-4509-9F03-19B9D28A05BC
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0007363
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111595
Mondo ID	MONDO_0007363
DiseasesDB	29326
Disease Ontology ID	DOID:0111595
rdfs:label	Congenital contractural arachnodactyly (en) Beals syndrom (sv) Congenital contractural arachnodactyly (nl) Kongenitale Kontrakturale Arachnodaktylie (de) Συγγενής συστολική αραχνοδακτυλία (el) Sindrome di Beals (it) عنكبية الأصابع التقفعية الخلقية (ar) Zespół Bealsa (pl) kongenitalna kontrakturna arahnodaktilija (sl) syndrome de Beals (fr) תסמונת בילס (he) 先天性攣縮細長指 (zh)
skos:prefLabel	Congenital contractural arachnodactyly (en) Beals syndrom (sv) Congenital contractural arachnodactyly (nl) Kongenitale Kontrakturale Arachnodaktylie (de) Συγγενής συστολική αραχνοδακτυλία (el) Sindrome di Beals (it) عنكبية الأصابع التقفعية الخلقية (ar) Zespół Bealsa (pl) kongenitalna kontrakturna arahnodaktilija (sl) syndrome de Beals (fr) תסמונת בילס (he) 先天性攣縮細長指 (zh)
name	Congenital contractural arachnodactyly (en) Beals syndrom (sv) Congenital contractural arachnodactyly (nl) Kongenitale Kontrakturale Arachnodaktylie (de) Συγγενής συστολική αραχνοδακτυλία (el) Sindrome di Beals (it) عنكبية الأصابع التقفعية الخلقية (ar) Zespół Bealsa (pl) kongenitalna kontrakturna arahnodaktilija (sl) syndrome de Beals (fr) תסמונת בילס (he) 先天性攣縮細長指 (zh)
Freebase ID	wds:Q3508618-A67959AF-662D-4933-90DD-0CB62C31D8DD
Freebase ID	/m/02r82xz
instance of	wds:Q3508618-0E045FA2-5044-4D3E-A16C-C6AB349880D3 wds:Q3508618-E57AC942-876C-4098-9548-060E83A55637
instance of	class of disease rare disease
subclass of	wds:Q3508618-179d8716-41e0-1080-c7e5-03701f9d4fe5 wds:Q3508618-2d82e963-404c-c47a-b8da-4fb44044e1e9 wds:Q3508618-604B2902-88E5-41DE-B192-66F60935351D
subclass of	autosomal dominant disease primary bone dysplasia distal arthrogryposis
KEGG ID	wds:Q3508618-166EF93F-CBEA-4C28-B900-1ABE3DD1442E
KEGG ID	http://www.kegg.jp/entry/H00660
KEGG ID	H00660
UniProt disease ID	wds:Q3508618-b59c574b-48c8-393f-93c3-fdff5c7213f4
Orphanet ID	wds:Q3508618-2BDB4224-001D-4E96-B222-86A598DD3E2D
genetic association	wds:Q3508618-B2E1C0BA-8C37-43C4-AC1E-D95187EF18AB
GARD rare disease ID	wds:Q3508618-AD6E15AF-4A0B-42D3-BCCC-C011D4F022B6
OMIM ID	wds:Q3508618-22EB051A-62C2-4304-BC94-B14E53A3A6BA
GeneReviews ID	wds:Q3508618-5D8439AC-86E5-44D4-9D72-90F8880D54FC
Genetics Home Reference Conditions ID	wds:Q3508618-DA0E7B7C-BD30-4E06-A462-6F88140E3F52
UniProt disease ID	DI-01397
Orphanet ID	115
genetic association	FBN2
GARD rare disease ID	5899
OMIM ID	121050
GeneReviews ID	NBK1386
Genetics Home Reference Conditions ID	congenital-contractural-arachnodactyly
Commons category	wds:Q3508618-6931c9e9-4e1e-6819-b427-632e1df743d4
Commons category	Beals syndrome
skos:altLabel	CCA (en) Beals-Hecht syndrome (en) Beals syndrome (en) Distal arthrogryposis type 9 (en) Syndrome de beals (fr) arachnodactyly, contractural Beals type (en) congenital contractural arachnodactyly (en) contractures, multiple with arachnodactyly (en) distal arthrogryposis type 9 (en) ear anomalies-contractures-dysplasia of bone with kyphoscoliosis (en)
NCI Thesaurus ID	wds:Q3508618-aad7da6f-410b-7199-a682-faede0be0b92
UMLS CUI	wds:Q3508618-3F1544CF-9905-40E5-BD92-B5F381FBC7BC
on focus list of Wikimedia project	wds:Q3508618-66EEF249-1692-4A0B-9690-FD1AD781A729
Microsoft Academic ID	wds:Q3508618-5A9BDB6A-6B48-45A0-ADB8-F57BA0F4B56F wds:Q3508618-997AA7B0-F71A-4F7E-8E9F-7A99CB064063

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