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 4 ID (Ontology) DOID:0111213 (Human Disease)
Definition An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31.
Also Known As "autosomal recessive distal spinal muscular atrophy type 4" ; "autosomal recessive lower motor neuron disease with childhood onset" ; "distal spinal muscular atrophy type 4" (for all, see Synonyms field below)
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 autosomal recessive distal hereditary motor neuronopathy 4       1
 for disease ribbon | autosomal recessive distal hereditary motor neuronopathy 4       1
 model of | autosomal recessive distal hereditary motor neuronopathy 4       1
Spanning Tree (Parents/Children)
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autosomal recessive disease__
spinal muscular atrophy______|
                             autosomal recessive distal hereditary motor neuronopathy
                              |__autosomal recessive distal hereditary motor neuronopathy 4  1 rec.
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Is a autosomal recessive distal hereditary motor neuronopathy
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Synonyms
  • "autosomal recessive distal spinal muscular atrophy type 4" EXACT
    "autosomal recessive lower motor neuron disease with childhood onset" EXACT
    "distal spinal muscular atrophy type 4" EXACT
    "DSMA4" EXACT OMO:0003012
Secondary IDs
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MESH:C567023
MIM:611067
ORDO:206580
SNOMEDCT_US_2023_03_01:771302009
UMLS_CUI:C1970211