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Ontology Browser
Term:
autosomal recessive distal hereditary motor neuronopathy 2 (DOID:0111065)
Annotations: Rat: (50) Mouse: (51) Human: (52) Chinchilla: (46) Bonobo: (49) Dog: (50) Squirrel: (47) Pig: (50) Naked Mole-rat: (49) Green Monkey: (46)
Parent Terms Term With Siblings Child Terms
autosomal recessive distal hereditary motor neuronopathy 1  
autosomal recessive distal hereditary motor neuronopathy 10  
autosomal recessive distal hereditary motor neuronopathy 2  
A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. (DO)
autosomal recessive distal hereditary motor neuronopathy 3 
autosomal recessive distal hereditary motor neuronopathy 4  
autosomal recessive distal hereditary motor neuronopathy 5  
autosomal recessive distal hereditary motor neuronopathy 6  
autosomal recessive distal hereditary motor neuronopathy 7  
autosomal recessive distal hereditary motor neuronopathy 8  
autosomal recessive distal hereditary motor neuronopathy 9  

Synonyms
Exact Synonyms: DSMA2 ;   HMNJ ;   HMNR2 ;   autosomal recessive distal spinal muscular atrophy 2 ;   dHMNJ ;   distal hereditary motor neuronopathy, Jerash type ;   distal hereditary motor neuropathy, Jerash type ;   distal hereditary motor neuropathy, autosomal recessive 2 ;   distal motor neuropathy, Jerash type ;   distal spinal muscular atrophy 2 ;   hereditary motor neuropathy, Jerash type ;   spinal muscular atrophy, Jerash type
Primary IDs: MESH:C535715
Alternate IDs: OMIM:605726
Xrefs: GARD:10133 ;   ORDO:139552
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/26078401 "DO" "DO"

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