Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
distal hereditary motor neuronopathy type 5B (DOID:0111205)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
distal hereditary motor neuronopathy type 5A  
distal hereditary motor neuronopathy type 5B  
A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in REEP1 on 2p11.2. (DO)
Distal Hereditary Motor Neuronopathy Type 5C  

Synonyms
Exact Synonyms: DHMN VB ;   DHMN5B ;   DSMAVB ;   HMN VB ;   HMN5B ;   NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VB ;   distal HMN VB ;   distal hereditary motor neuronopathy type VB ;   distal spinal muscular atrophy, type VB
Primary IDs: OMIM:614751
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22703882 "DO"

paths to the root