About: autosomal recessive limb-girdle muscular dystrophy type 2F

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About: autosomal recessive limb-girdle muscular dystrophy type 2F Goto Sponge NotDistinct Permalink

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autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the sarcoglycan-delta gene (SGCD)

Attributes	Values
rdf:type	Item
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the sarcoglycan-delta gene (SGCD) (en)
exact match	wds:Q27677701-CF217DFB-112F-4F9B-A85D-4616D6E7543A wds:Q27677701-F22EFD4C-B05D-4BFF-A4FA-122E0D8DD70D
exact match	http://purl.obolibrary.org/obo/DOID_0110280 http://identifiers.org/doid/DOID:0110280
health specialty	wds:Q27677701-523B845D-CB18-44CB-A109-0CD6EFB21CED
Mondo ID	wds:Q27677701-428FB2B6-219A-4659-9DC5-80A3FA5A9EE4
Disease Ontology ID	wds:Q27677701-17EF59BD-925C-4C76-ADA4-E70F19CEC71F
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011028
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0110280
health specialty	neurology
Mondo ID	MONDO_0011028
Disease Ontology ID	DOID:0110280
rdfs:label	autosomal recessive limb-girdle muscular dystrophy type 2F (en) distrofia muscular de cinturas autosómica recesiva tipo 2F (es)
skos:prefLabel	autosomal recessive limb-girdle muscular dystrophy type 2F (en) distrofia muscular de cinturas autosómica recesiva tipo 2F (es)
name	autosomal recessive limb-girdle muscular dystrophy type 2F (en) distrofia muscular de cinturas autosómica recesiva tipo 2F (es)
instance of	wds:Q27677701-258947BF-9E78-49A3-A7A9-39722599A2CF wds:Q27677701-ABA687BC-779A-4241-AA00-304AF29056E1
instance of	class of disease rare disease
subclass of	wds:Q27677701-52CCAD3C-7BC2-48C0-BED3-85821A13675C wds:Q27677701-58B3030B-22B0-45C3-9179-F0182BABC9E6 wds:Q27677701-68b936fa-4c93-4774-082d-bc5d4251cf0e wds:Q27677701-869A3546-5A75-4A9E-97E4-9A46850F4E95
subclass of	sarcoglycanopathy autosomal recessive limb-girdle muscular dystrophy qualitative or quantitative defects of delta-sarcoglycan neuromuscular disease with dilated cardiomyopathy
Orphanet ID	wds:Q27677701-5051DBF3-DE54-4C05-B0FB-60CD5FEEBA08
genetic association	wds:Q27677701-8ABF1DEC-8C94-4345-9BDF-51E18D0821B7
ICD-10-CM	wds:Q27677701-7319BDCE-D651-4D49-ACAD-22694D3D141A
GARD rare disease ID	wds:Q27677701-015C3115-E4F6-4FA0-901E-E1EA4948650E
OMIM ID	wds:Q27677701-9D4325F8-0B1D-49E8-B469-06EA81C9A30F
Orphanet ID	219
genetic association	SGCD
ICD-10-CM	G71.0
GARD rare disease ID	8573
OMIM ID	601287
skos:altLabel	limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency (en) LGMD2F (de) LGMD2F (en) LGMD2F (es) Limb-girdle muscular dystrophy type 2F (en) MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F (en) MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F (en) delta-sarcoglycanopathy (en) distrofia muscular de cinturas tipo 2F (es) sarcoglicanopatia delta (es) sarcoglicanopatía delta (es) sarcoglicanopatía δ (es) Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency (en) δ-sarcoglycanopathy (en) δ-sarcoglycanopathy (es)
UMLS CUI	wds:Q27677701-CF2A7CD3-8CF7-42A4-9420-B7AFE6723443
MeSH descriptor ID	wds:Q27677701-5473E12D-0E76-4E76-A4FA-E0B2B2BB7D33
on focus list of Wikimedia project	wds:Q27677701-47D8389A-EB16-47FB-A25E-7FC9712404A0
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535896
UMLS CUI	C1832525
MeSH descriptor ID	C535896
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q27677701
is genetic association of	SGCD
is genetic association of	wds:Q24292611-1BDB1A4B-E29F-46E0-8E4E-3847FD190A1C

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