autosomal recessive limb-girdle muscular dystrophy type 2L
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14
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autosomal recessive limb-girdle muscular dystrophy type 2L
Summary
autosomal recessive limb-girdle muscular dystrophy type 2L is a rare disease[1].
Key Facts
- autosomal recessive limb-girdle muscular dystrophy type 2L's instance of is recorded as rare disease[2].
- autosomal recessive limb-girdle muscular dystrophy type 2L's instance of is recorded as class of disease[3].
- autosomal recessive limb-girdle muscular dystrophy type 2L's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[4].
- autosomal recessive limb-girdle muscular dystrophy type 2L's subclass of is recorded as qualitative or quantitative defects of fukutin[5].
- autosomal recessive limb-girdle muscular dystrophy type 2L's MeSH descriptor ID is recorded as C566968[6].
- autosomal recessive limb-girdle muscular dystrophy type 2L's OMIM ID is recorded as 611307[7].
- autosomal recessive limb-girdle muscular dystrophy type 2L's Disease Ontology ID is recorded as DOID:0110284[8].
- autosomal recessive limb-girdle muscular dystrophy type 2L's Orphanet ID is recorded as 206549[9].
- autosomal recessive limb-girdle muscular dystrophy type 2L's health specialty is recorded as neurology[10].
- autosomal recessive limb-girdle muscular dystrophy type 2L's genetic association is recorded as ANO5[11].
- autosomal recessive limb-girdle muscular dystrophy type 2L's Google Knowledge Graph ID is recorded as /g/11vdhclmx[12].
- autosomal recessive limb-girdle muscular dystrophy type 2L's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110284[13].
- autosomal recessive limb-girdle muscular dystrophy type 2L's exact match is recorded as http://identifiers.org/doid/DOID:0110284[14].
- autosomal recessive limb-girdle muscular dystrophy type 2L's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_206549[15].
- autosomal recessive limb-girdle muscular dystrophy type 2L's UMLS CUI is recorded as C1969785[16].
- autosomal recessive limb-girdle muscular dystrophy type 2L's ICD-10-CM is recorded as G71.0[17].
- autosomal recessive limb-girdle muscular dystrophy type 2L's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- autosomal recessive limb-girdle muscular dystrophy type 2L's Mondo ID is recorded as MONDO_0012652[19].
- autosomal recessive limb-girdle muscular dystrophy type 2L's UniProt disease ID is recorded as DI-02703[20].