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Ontology Browser

Term:
distal hereditary motor neuronopathy type 1 (DOID:0111200)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
distal hereditary motor neuronopathy type 1  
An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has_material_basis_in heterozygous mutation in locus in the 7q34-q36 chromosome region. (DO)
distal hereditary motor neuronopathy type 2 +   
distal hereditary motor neuronopathy type 5 +   
distal hereditary motor neuronopathy type 7 +   
distal hereditary motor neuronopathy type 8  
distal hereditary motor neuronopathy type 9  

Synonyms
Exact Synonyms: HMN I ;   autosomal dominant distal juvenile spinal muscular atrophy type 1 ;   dHMN1 ;   distal hereditary motor neuronopathy ;   distal hereditary motor neuropathy, type 1 ;   distal hereditary motor neuropathy, type I ;   distal spinal muscular atrophy, juvenile, autosomal dominant, I ;   spinal Charcot-Marie-Tooth disease 1 ;   spinal Charcot-Marie-Tooth disease I
Primary IDs: MESH:C566675
Alternate IDs: OMIM:182960
Xrefs: NCI:C132826 ;   ORDO:139518
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17354000 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7365507 "DO"

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