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Metadata
ID DOID:0111200
Name distal hereditary motor neuronopathy type 1
Definition An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has_material_basis_in heterozygous mutation in locus in the 7q34-q36 chromosome region.
https://www.ncbi.nlm.nih.gov/pubmed/17354000, https://www.ncbi.nlm.nih.gov/pubmed/7365507
Xrefs

MESH:C566675

NCI:C132826

OMIM:182960

ORDO:139518

UMLS_CUI:C1866784

Synonyms

autosomal dominant distal juvenile spinal muscular atrophy type 1 [EXACT]

dHMN1 [EXACT]

distal hereditary motor neuropathy type I [EXACT]

HMN I [EXACT]

spinal Charcot-Marie-Tooth disease 1 [EXACT]

Parent Relationships

is_a autosomal dominant distal hereditary motor neuronopathy

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