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Ontology Browser

Term:
distal hereditary motor neuronopathy type 5A (DOID:0111204)
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  
A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3. (DO)
distal hereditary motor neuronopathy type 5B  
Distal Hereditary Motor Neuronopathy Type 5C  

Synonyms
Exact Synonyms: DHMN VA ;   DHMN5A ;   DSMAVA ;   HMN 5A ;   HMN VA ;   HMN5A ;   distal HMN VA ;   distal hereditary motor neuronopathy type VA ;   distal hereditary motor neuropathy, type VA ;   distal spinal muscular atrophy, type VA
Primary IDs: OMIM:600794
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12690580 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14981520 "DO"

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