| Metadata | |
|---|---|
| ID | DOID:0111552 |
| Name | scapuloperoneal spinal muscular atrophy |
| Definition | A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. https://www.ncbi.nlm.nih.gov/pubmed/1520078, https://www.ncbi.nlm.nih.gov/pubmed/20037587 |
| Xrefs |
SNOMEDCT_US_2023_03_01:230248006 |
| Subsets |
DO_rare_slim |
| Synonyms |
neurogenic scapuloperoneal amyotrophy, New England type [EXACT] scapuloperoneal neuronopathy [EXACT] SPSMA [EXACT] |
| Parent Relationships |
is_a motor neuron disease |