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 12 ID (Ontology) DOID:0111205 (Human Disease)
Definition An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2.
Also Known As "distal hereditary motor neuronopathy type 5B" ; "distal HMN VB" ; "distal spinal muscular atrophy type VB"
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 Genes
 autosomal dominant distal hereditary motor neuronopathy 12       1
 for disease ribbon | autosomal dominant distal hereditary motor neuronopathy 12       1
 model of | autosomal dominant distal hereditary motor neuronopathy 12       1
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autosomal dominant disease__
spinal muscular atrophy_____|
                            autosomal dominant distal hereditary motor neuronopathy
                             |__autosomal dominant distal hereditary motor neuronopathy 12  1 rec.
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Is a autosomal dominant distal hereditary motor neuronopathy
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Synonyms
  • "distal hereditary motor neuronopathy type 5B" EXACT
    "distal HMN VB" EXACT
    "distal spinal muscular atrophy type VB" EXACT
Secondary IDs
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MIM:614751