autosomal recessive limb-girdle muscular dystrophy type 2E
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12
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autosomal recessive limb-girdle muscular dystrophy type 2E
Summary
autosomal recessive limb-girdle muscular dystrophy type 2E is a rare disease[1].
Key Facts
- autosomal recessive limb-girdle muscular dystrophy type 2E's instance of is recorded as rare disease[2].
- autosomal recessive limb-girdle muscular dystrophy type 2E's instance of is recorded as class of disease[3].
- autosomal recessive limb-girdle muscular dystrophy type 2E is a type of autosomal recessive limb-girdle muscular dystrophy[4].
- autosomal recessive limb-girdle muscular dystrophy type 2E is a type of sarcoglycanopathy[5].
- autosomal recessive limb-girdle muscular dystrophy type 2E is a type of qualitative or quantitative defects of beta-sarcoglycan[6].
- autosomal recessive limb-girdle muscular dystrophy type 2E is a type of neuromuscular disease with dilated cardiomyopathy[7].
- autosomal recessive limb-girdle muscular dystrophy type 2E's NCI Thesaurus ID is recorded as C180849[8].
- autosomal recessive limb-girdle muscular dystrophy type 2E's health specialty is recorded as neurology[9].
- autosomal recessive limb-girdle muscular dystrophy type 2E's genetic association is recorded as SGCB[10].
- autosomal recessive limb-girdle muscular dystrophy type 2E's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110279[11].
- autosomal recessive limb-girdle muscular dystrophy type 2E's exact match is recorded as http://identifiers.org/doid/DOID:0110279[12].
- autosomal recessive limb-girdle muscular dystrophy type 2E's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].