Search Ontology:
Human Disease

autosomal dominant distal hereditary motor neuronopathy 12

Term ID
DOID:0111205
Synonyms
  • distal hereditary motor neuronopathy type 5B
  • distal HMN VB
  • distal spinal muscular atrophy type VB
Definition
An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. https://www.ncbi.nlm.nih.gov/pubmed/22703882
References
Ontology
Human Disease   ( DOID:0111205 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models