| Metadata | |
|---|---|
| ID | DOID:0110289 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2Y |
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. https://www.ncbi.nlm.nih.gov/pubmed/24856141 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive muscular dystrophy due to LAP1B deficiency [EXACT] autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency [EXACT] LGMD2Y [EXACT] muscular dystrophy with progressive weakness, distal contractures and rigid spine [EXACT] muscular dystrophy, limb-girdle, type 2Y [EXACT] |
| Parent Relationships |