autosomal recessive limb-girdle muscular dystrophy type 2D
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA; 600119) on chromosome 17q
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autosomal recessive limb-girdle muscular dystrophy type 2D
Summary
autosomal recessive limb-girdle muscular dystrophy type 2D is a rare disease[1].
Key Facts
- autosomal recessive limb-girdle muscular dystrophy type 2D's instance of is recorded as rare disease[2].
- autosomal recessive limb-girdle muscular dystrophy type 2D's instance of is recorded as class of disease[3].
- autosomal recessive limb-girdle muscular dystrophy type 2D's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[4].
- autosomal recessive limb-girdle muscular dystrophy type 2D's subclass of is recorded as sarcoglycanopathy[5].
- autosomal recessive limb-girdle muscular dystrophy type 2D's subclass of is recorded as qualitative or quantitative defects of alpha-sarcoglycan[6].
- autosomal recessive limb-girdle muscular dystrophy type 2D's subclass of is recorded as neuromuscular disease with dilated cardiomyopathy[7].
- autosomal recessive limb-girdle muscular dystrophy type 2D's OMIM ID is recorded as 608099[8].
- autosomal recessive limb-girdle muscular dystrophy type 2D's Disease Ontology ID is recorded as DOID:0110278[9].
- autosomal recessive limb-girdle muscular dystrophy type 2D's Orphanet ID is recorded as 62[10].
- autosomal recessive limb-girdle muscular dystrophy type 2D's NCI Thesaurus ID is recorded as C142081[11].
- autosomal recessive limb-girdle muscular dystrophy type 2D's health specialty is recorded as neurology[12].
- autosomal recessive limb-girdle muscular dystrophy type 2D's genetic association is recorded as SGCA[13].
- autosomal recessive limb-girdle muscular dystrophy type 2D's Google Knowledge Graph ID is recorded as /g/11c3w3rvyk[14].
- autosomal recessive limb-girdle muscular dystrophy type 2D's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110278[15].
- autosomal recessive limb-girdle muscular dystrophy type 2D's exact match is recorded as http://identifiers.org/doid/DOID:0110278[16].
- autosomal recessive limb-girdle muscular dystrophy type 2D's UMLS CUI is recorded as C1842550[17].
- autosomal recessive limb-girdle muscular dystrophy type 2D's UMLS CUI is recorded as C2936332[18].
- autosomal recessive limb-girdle muscular dystrophy type 2D's ICD-10-CM is recorded as G71.0[19].
- autosomal recessive limb-girdle muscular dystrophy type 2D's GARD rare disease ID is recorded as 438[20].
- autosomal recessive limb-girdle muscular dystrophy type 2D's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
- autosomal recessive limb-girdle muscular dystrophy type 2D's Mondo ID is recorded as MONDO_0011968[22].