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Metadata
ID DOID:0111198
Name autosomal dominant distal hereditary motor neuronopathy
Definition A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance.
https://www.ncbi.nlm.nih.gov/pubmed/15358725
Xrefs

OMIM:PS182960

ORDO:140465

Subsets

DO_rare_slim

Synonyms

autosomal dominant dHMN [EXACT]

autosomal dominant distal hereditary motor neuropathy [EXACT]

autosomal dominant distal spinal muscular atrophy [EXACT]

Parent Relationships

is_a spinal muscular atrophy

is_a autosomal dominant disease

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