Search Ontology:
Human Disease

scapuloperoneal spinal muscular atrophy

Term ID
DOID:0111552
Synonyms
  • 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
  • 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models