Search Ontology:
Human Disease
scapuloperoneal spinal muscular atrophy
- Term ID
- DOID:0111552
- Synonyms
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- neurogenic scapuloperoneal amyotrophy, New England type
- scapuloperoneal neuronopathy
- SPSMA
- 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. (2)
- References
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- GARD:10314
- ICD10CM:G12.1
- MESH:D009134
- MIM:181405
- ORDO:431255
- SNOMEDCT_US_2023_03_01:230248006
- UMLS_CUI:C0751335
- Ontology
- Human Disease ( DOID:0111552 )
- is a type of
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Genes Involved
Zebrafish Models