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

Ontology Browser

Term:
distal hereditary motor neuropathy type 2B (DOID:0111207)
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 2A  
distal hereditary motor neuronopathy type 2C  
distal hereditary motor neuronopathy type 2D  
distal hereditary motor neuropathy type 2B  
A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB1 on 7q11.23. (DO)

Synonyms
Exact Synonyms: DHMN2B ;   HMN IIB ;   HMN2B ;   distal hereditary motor neuronopathy, type IIB ;   distal hereditary motor neuropathy, type IIB
Broad Synonyms: HSPB1-related disorder
Primary IDs: MESH:C567084
Alternate IDs: OMIM:608634 ;   RDO:0015258
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/18832141 "DO"

paths to the root