OBO ID: DOID:0111205
Term Name: distal hereditary motor neuronopathy type 5B Search Ontology:
Synonyms:
  • distal HMN VB
  • distal spinal muscular atrophy type VB
Definition: A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in REEP1 on 2p11.2. https://www.ncbi.nlm.nih.gov/pubmed/22703882
References:
Ontology: Human Disease   (DOID:0111205)
OTHER distal hereditary motor neuronopathy type 5B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
REEP1 ?Neuronopathy, distal hereditary motor, type VB 614751
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None