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Ontology Browser

Term:
distal hereditary motor neuronopathy type 8 (DOID:0111215)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
distal hereditary motor neuronopathy type 1  
distal hereditary motor neuronopathy type 2 +   
distal hereditary motor neuronopathy type 5 +   
distal hereditary motor neuronopathy type 7 +   
distal hereditary motor neuronopathy type 8  
A autosomal dominant distal hereditary motor neuronopathy characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in TRPV4 on 12q24.11. (DO)
distal hereditary motor neuronopathy type 9  

Synonyms
Exact Synonyms: DHMN8 ;   HMN8 ;   NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII ;   Spinal Muscular Atrophy, Congenital Benign, with Contractures ;   Spinal Muscular Atrophy, Distal, Congenital Nonprogressive ;   autosomal dominant benign distal spinal muscular atrophy ;   autosomal dominant congenital benign spinal muscular atrophy ;   congenital nonprogressive spinal muscular atrophy ;   distal hereditary motor neuronopathy, type VIII
Primary IDs: MESH:C563981
Alternate IDs: OMIM:600175 ;   RDO:0013090
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/20037588 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21336783 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4056805 "DO"

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