autosomal recessive limb-girdle muscular dystrophy type 2U
autosomal recessive limb-girdle muscular dystrophy that hhas material basis in homozygous mutation in the ISPD gene on chromosome 7p21
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autosomal recessive limb-girdle muscular dystrophy type 2U
Summary
autosomal recessive limb-girdle muscular dystrophy type 2U is a rare disease[1].
Key Facts
- autosomal recessive limb-girdle muscular dystrophy type 2U's instance of is recorded as rare disease[2].
- autosomal recessive limb-girdle muscular dystrophy type 2U's instance of is recorded as class of disease[3].
- autosomal recessive limb-girdle muscular dystrophy type 2U's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[4].
- autosomal recessive limb-girdle muscular dystrophy type 2U's OMIM ID is recorded as 616052[5].
- autosomal recessive limb-girdle muscular dystrophy type 2U's Disease Ontology ID is recorded as DOID:0110295[6].
- autosomal recessive limb-girdle muscular dystrophy type 2U's Orphanet ID is recorded as 352479[7].
- autosomal recessive limb-girdle muscular dystrophy type 2U's health specialty is recorded as neurology[8].
- autosomal recessive limb-girdle muscular dystrophy type 2U's genetic association is recorded as CRPPA[9].
- autosomal recessive limb-girdle muscular dystrophy type 2U's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110295[10].
- autosomal recessive limb-girdle muscular dystrophy type 2U's exact match is recorded as http://identifiers.org/doid/DOID:0110295[11].
- autosomal recessive limb-girdle muscular dystrophy type 2U's UMLS CUI is recorded as C5190987[12].
- autosomal recessive limb-girdle muscular dystrophy type 2U's ICD-10-CM is recorded as G71.0[13].
- autosomal recessive limb-girdle muscular dystrophy type 2U's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- autosomal recessive limb-girdle muscular dystrophy type 2U's Mondo ID is recorded as MONDO_0014474[15].
- autosomal recessive limb-girdle muscular dystrophy type 2U's UniProt disease ID is recorded as DI-04245[16].