OBO ID: DOID:0111201
Term Name: obsolete distal hereditary motor neuronopathy type 7A Search Ontology:
Synonyms:
  • DHMN7A
  • distal hereditary motor neuropathy type VIIA
  • distal spinal muscular atrophy with vocal cord paralysis type 7A
  • Harper-Young myopath
  • HMN VIIA
  • HMN7A
Definition: A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. https://www.ncbi.nlm.nih.gov/pubmed/23141292
References:
Ontology: Human Disease   ( DOID:0111201 )
Obsolete: true
Relationships
OTHER obsolete distal hereditary motor neuronopathy type 7A PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None