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 is a type of autosomal recessive limb-girdle muscular dystrophy[4].
- autosomal recessive limb-girdle muscular dystrophy type 2D is a type of sarcoglycanopathy[5].
- autosomal recessive limb-girdle muscular dystrophy type 2D is a type of qualitative or quantitative defects of alpha-sarcoglycan[6].
- autosomal recessive limb-girdle muscular dystrophy type 2D is a type of neuromuscular disease with dilated cardiomyopathy[7].
- autosomal recessive limb-girdle muscular dystrophy type 2D's NCI Thesaurus ID is recorded as C142081[8].
- autosomal recessive limb-girdle muscular dystrophy type 2D's health specialty is recorded as neurology[9].
- autosomal recessive limb-girdle muscular dystrophy type 2D's genetic association is recorded as SGCA[10].
- autosomal recessive limb-girdle muscular dystrophy type 2D's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110278[11].
- autosomal recessive limb-girdle muscular dystrophy type 2D's exact match is recorded as http://identifiers.org/doid/DOID:0110278[12].
- autosomal recessive limb-girdle muscular dystrophy type 2D's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].