FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term autosomal recessive distal hereditary motor neuronopathy 3 ID (Ontology) DOID:0111211 (Human Disease)
Definition An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3.
Also Known As "autosomal recessive distal spinal muscular atrophy type 3" ; "dHMN3" ; "dHMN3 and dHMN4" (for all, see Synonyms field below)
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autosomal recessive disease__
spinal muscular atrophy______|
                             autosomal recessive distal hereditary motor neuronopathy
                              |__autosomal recessive distal hereditary motor neuronopathy 3
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Is a autosomal recessive distal hereditary motor neuronopathy
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Synonyms
  • "autosomal recessive distal spinal muscular atrophy type 3" EXACT
    "dHMN3" EXACT OMO:0003012
    "dHMN3 and dHMN4" EXACT
    "dHMN4" EXACT OMO:0003012
    "distal hereditary motor neuropathy type 3" EXACT
    "distal hereditary motor neuropathy type 3 and type 4" EXACT
    "distal hereditary motor neuropathy type 4" EXACT
    "distal spinal muscular atrophy type 3" EXACT
    "dSMA3" EXACT OMO:0003012
Secondary IDs
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MESH:C564626
MIM:607088
ORDO:139547
SNOMEDCT_US_2023_03_01:770430000
UMLS_CUI:C1846823