About: Ehlers-Danlos syndrome, musculocontractural type

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About: Ehlers-Danlos syndrome, musculocontractural type Goto Sponge NotDistinct Permalink

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

Attributes	Values
rdf:type	Item
exact match	wds:Q55783225-34C1BF7F-3860-45BB-A80A-D5C206DE450F
exact match	http://www.orpha.net/ORDO/Orphanet_2953
Mondo ID	wds:Q55783225-70BE6CD2-890F-48B5-A19D-8EA40CEAF3BE
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011142
Mondo ID	MONDO_0011142
rdfs:label	Ehlers-Danlos syndrome, musculocontractural type (en) syndrome d'Ehlers-Danlos type musculo-contractural (fr)
skos:prefLabel	Ehlers-Danlos syndrome, musculocontractural type (en) syndrome d'Ehlers-Danlos type musculo-contractural (fr)
name	Ehlers-Danlos syndrome, musculocontractural type (en) syndrome d'Ehlers-Danlos type musculo-contractural (fr)
instance of	wds:Q55783225-16AAC547-6A9F-4120-8534-E2FAFBA48DDD wds:Q55783225-7CC3AA3F-2665-47FD-A185-D3577FA363D1 wds:Q55783225-AB7F0446-5E8B-4FA9-B603-0AA6AED296E4
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q55783225-12FB40E9-B3D0-450D-B9DC-E8DA9A0E2562 wds:Q55783225-34043204-047A-488F-90AA-AF03D0A8A728 wds:Q55783225-8246C206-D9A5-4FC8-AC73-5ADD9D1F7CA0 wds:Q55783225-9215748B-0698-4C54-BB42-9C8BBE8AE6B5 wds:Q55783225-D8289C2A-E084-446B-B021-3DE3023AC708 wds:Q55783225-E0F4F6E0-34E6-499D-8E6D-37DF5ED608F8 wds:Q55783225-b6ce9b94-43a7-7094-c85f-0d25809e0b63
subclass of	Ehlers-Danlos syndrome rare abdominal surgical disease congenital disorder of glycosylation with neurological involvement disorder of O-xylosylglycan synthesis congenital disorder of glycosylation with cardiac malformation as a major feature congenital disorder of glycosylation with skin involvement congenital disorder of glycosylation with nephropathy as a major feature
KEGG ID	wds:Q55783225-AC17305B-DCB9-4C22-9E51-804109E31845
KEGG ID	http://www.kegg.jp/entry/H02246
KEGG ID	H02246
UniProt disease ID	wds:Q55783225-d199a51d-46b8-7d5d-bc51-f1f88ed7e195
Orphanet ID	wds:Q55783225-49DAFF59-13BE-44A1-9EFD-AFB7E5B44ECD
genetic association	wds:Q55783225-477F8C8C-4BA4-4E75-8856-495C93B2DDE1 wds:Q55783225-EFBC39CA-7FD5-42CD-90ED-9B6B0139B583
ICD-10-CM	wds:Q55783225-7EB58428-2AFF-44AB-B97F-4F4F53A9F3AD
GARD rare disease ID	wds:Q55783225-116165AE-83B6-4963-B925-26B36B7B7B40 wds:Q55783225-B68B14D8-B0E9-4FCE-A6B3-F173AFB67E31
OMIM ID	wds:Q55783225-7DBC767E-F28C-45E6-ACA6-AA0AD8B1BF12
UniProt disease ID	DI-02810
Orphanet ID	2953
genetic association	CHST14 DSE
ICD-10-CM	Q79.6
GARD rare disease ID	545 8486
OMIM ID	601776
skos:altLabel	ATCS (en) EDSMC1 (en) Adducted thumb-club foot syndrome (en) Adducted thumb-clubfoot syndrome (en) Adducted thumbs Dundar type (en) CHST14-related EDS (en) CHST14-related Ehlers-Danlos syndrome (en) D4ST1-deficient EDS (en) D4ST1-deficient Ehlers-Danlos syndrome (en) Dundar Syndrome (en) EDS, Kosho type (en) EDS, arthrogryposic type (en) EDS, musculocontractural type (en) EDS6B, FORMERLY (en) EDSmc (en) EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (en) Ehlers-Danlos Syndrome, Type Vib (en) Ehlers-Danlos Syndrome, Type Vib, Formerly (en) Ehlers-Danlos syndrome, Kosho type (en) Ehlers-Danlos syndrome, arthrogryposic type (en) EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (en) EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1; EDSMC1 (en) Adducted Thumb, Clubfoot, and Progressive Joint and Skin Laxity Syndrome (en) Adducted thumbs-arthrogryposis syndrome, Dundar type (en) Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis (en)
NCI Thesaurus ID	wds:Q55783225-2ec65d52-48a8-8a4a-7281-8f910856b8a8
UMLS CUI	wds:Q55783225-582022D9-81E0-41CB-BFE7-C87413C43E1F wds:Q55783225-C8D5CFE7-7F12-42AA-8794-62D75F0B2E64
MeSH descriptor ID	wds:Q55783225-24A1C69F-943C-4A3B-9758-67F472ADEFA2
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C000600608
NCI Thesaurus ID	C168975
UMLS CUI	C1866294 C2931780
MeSH descriptor ID	C000600608
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55783225
is subclass of of	Ehlers-Danlos syndrome, musculocontractural type 2
is subclass of of	wds:Q56003305-4f52e69d-459a-571c-94fb-11a50aeb3d93
is main subject of	Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome. Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins. Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13.
is main subject of	wds:Q43075335-11B8C7FD-4749-47E8-8BC6-B1E4AD45508D wds:Q54102417-F440D837-BE6C-4148-AA8E-EE42EAD21BE9 wds:Q52197499-03459316-68CB-4F73-BE53-0C7A42239E7C wds:Q55041220-8A223E2D-C627-44CC-AB29-7D4F260F3FE5 wds:Q34087616-F39833C2-A00F-4066-9EB0-1D671BEAF517 wds:Q55136708-AAA08DA3-4CE2-474F-988C-1171838D9B15

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