FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant distal hereditary motor neuronopathy 7 ID (Ontology) DOID:0111199 (Human Disease)
Definition An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3.
Also Known As "dHMN7" ; "DHMN7A" ; "DHMNVPy" (for all, see Synonyms field below)
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 autosomal dominant distal hereditary motor neuronopathy 7       1
 for disease ribbon | autosomal dominant distal hereditary motor neuronopathy 7       1
 model of | autosomal dominant distal hereditary motor neuronopathy 7       1
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autosomal dominant disease__
spinal muscular atrophy_____|
                            autosomal dominant distal hereditary motor neuronopathy
                             |__autosomal dominant distal hereditary motor neuronopathy 7  1 rec.
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Is a autosomal dominant distal hereditary motor neuronopathy
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Synonyms
  • "dHMN7" EXACT OMO:0003012
    "DHMN7A" EXACT OMO:0003012
    "DHMNVPy" EXACT OMO:0003012
    "distal hereditary motor neuronopathy type 7" EXACT
    "distal hereditary motor neuropathy type VIIA" EXACT
    "distal spinal muscular atrophy with vocal cord paralysis" EXACT
    "distal spinal muscular atrophy with vocal cord paralysis type 7A" EXACT
    "Harper-Young myopath" EXACT
    "HMN VIIA" EXACT OMO:0003012
    "HMN7A" EXACT OMO:0003012
Secondary IDs
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MIM:158580
ORDO:139589