distal hereditary motor neuronopathy type 5A - Ontology Browser

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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)

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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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