autosomal recessive limb-girdle muscular dystrophy type 2Q
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the PLEC1 gene
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autosomal recessive limb-girdle muscular dystrophy type 2Q
Summary
autosomal recessive limb-girdle muscular dystrophy type 2Q is a rare disease[1].
Key Facts
- autosomal recessive limb-girdle muscular dystrophy type 2Q's instance of is recorded as rare disease[2].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's instance of is recorded as class of disease[3].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[4].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's subclass of is recorded as qualitative or quantitative defects of plectin[5].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's OMIM ID is recorded as 613723[6].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's Disease Ontology ID is recorded as DOID:0110285[7].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's Orphanet ID is recorded as 254361[8].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's health specialty is recorded as neurology[9].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's genetic association is recorded as PLEC[10].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110285[11].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's exact match is recorded as http://identifiers.org/doid/DOID:0110285[12].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's UMLS CUI is recorded as C3150989[13].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's ICD-10-CM is recorded as G71.0[14].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- autosomal recessive limb-girdle muscular dystrophy type 2Q's Mondo ID is recorded as MONDO_0013390[16].