FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term scapuloperoneal spinal muscular atrophy ID (Ontology) DOID:0111552 (Human Disease)
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.
Also Known As "neurogenic scapuloperoneal amyotrophy, New England type" ; "scapuloperoneal neuronopathy" ; "SPSMA"
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 scapuloperoneal spinal muscular atrophy       2      1
 for disease ribbon | scapuloperoneal spinal muscular atrophy       1       --
 model of | scapuloperoneal spinal muscular atrophy       1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
neurodegenerative disease       |
 |__motor neuron disease________|
                                scapuloperoneal spinal muscular atrophy  3 rec.
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Is a autosomal dominant disease
motor neuron disease
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Synonyms
  • "neurogenic scapuloperoneal amyotrophy, New England type" EXACT
    "scapuloperoneal neuronopathy" EXACT
    "SPSMA" EXACT OMO:0003012
Secondary IDs
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GARD:10314
ICD10CM:G12.1
MESH:D009134
MIM:181405
ORDO:431255
SNOMEDCT_US_2023_03_01:230248006
UMLS_CUI:C0751335