autosomal recessive limb-girdle muscular dystrophy type 2P
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21
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autosomal recessive limb-girdle muscular dystrophy type 2P
Summary
autosomal recessive limb-girdle muscular dystrophy type 2P is a rare disease[1].
Key Facts
- autosomal recessive limb-girdle muscular dystrophy type 2P's instance of is recorded as rare disease[2].
- autosomal recessive limb-girdle muscular dystrophy type 2P's instance of is recorded as class of disease[3].
- autosomal recessive limb-girdle muscular dystrophy type 2P's subclass of is recorded as autosomal recessive limb-girdle muscular dystrophy[4].
- autosomal recessive limb-girdle muscular dystrophy type 2P's subclass of is recorded as non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature[5].
- autosomal recessive limb-girdle muscular dystrophy type 2P's subclass of is recorded as primary qualitative or quantitative defects of alpha-dystroglycan[6].
- autosomal recessive limb-girdle muscular dystrophy type 2P's OMIM ID is recorded as 613818[7].
- autosomal recessive limb-girdle muscular dystrophy type 2P's Disease Ontology ID is recorded as DOID:0110293[8].
- autosomal recessive limb-girdle muscular dystrophy type 2P's Orphanet ID is recorded as 280333[9].
- autosomal recessive limb-girdle muscular dystrophy type 2P's health specialty is recorded as neurology[10].
- autosomal recessive limb-girdle muscular dystrophy type 2P's genetic association is recorded as DAG1[11].
- autosomal recessive limb-girdle muscular dystrophy type 2P's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110293[12].
- autosomal recessive limb-girdle muscular dystrophy type 2P's exact match is recorded as http://identifiers.org/doid/DOID:0110293[13].
- autosomal recessive limb-girdle muscular dystrophy type 2P's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_280333[14].
- autosomal recessive limb-girdle muscular dystrophy type 2P's UMLS CUI is recorded as C3151184[15].
- autosomal recessive limb-girdle muscular dystrophy type 2P's UMLS CUI is recorded as C4511963[16].
- autosomal recessive limb-girdle muscular dystrophy type 2P's ICD-10-CM is recorded as G71.0[17].
- autosomal recessive limb-girdle muscular dystrophy type 2P's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- autosomal recessive limb-girdle muscular dystrophy type 2P's Mondo ID is recorded as MONDO_0013440[19].
- autosomal recessive limb-girdle muscular dystrophy type 2P's UniProt disease ID is recorded as DI-03074[20].