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Metadata
ID DOID:0111199
Name autosomal dominant distal hereditary motor neuronopathy 7
Definition An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3.
https://www.ncbi.nlm.nih.gov/pubmed/23141292, https://www.ncbi.nlm.nih.gov/pubmed/7420092
Xrefs

OMIM:158580

ORDO:139589

Alternateids

DOID:0111201

Subsets

DO_rare_slim

Synonyms

dHMN7 [EXACT]

DHMN7A [EXACT]

DHMNVPy [EXACT]

distal hereditary motor neuronopathy type 7 [EXACT]

distal hereditary motor neuropathy type VIIA [EXACT]

distal spinal muscular atrophy with vocal cord paralysis [EXACT]

distal spinal muscular atrophy with vocal cord paralysis type 7A [EXACT]

Harper-Young myopath [EXACT]

HMN VIIA [EXACT]

HMN7A [EXACT]

Parent Relationships

is_a autosomal dominant distal hereditary motor neuronopathy

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