Metadata | |
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ID | DOID:0110293 |
Name | autosomal recessive limb-girdle muscular dystrophy type 2P |
Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/21388311 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
LGMD2P [EXACT] MDDGC9 [EXACT] muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 [EXACT] muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related [EXACT] |
Parent Relationships |