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Ontology Browser

Term:
distal hereditary motor neuronopathy type 2D (DOID:0111210)
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 2A  
distal hereditary motor neuronopathy type 2C  
distal hereditary motor neuronopathy type 2D  
A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in FBXO38 on 5q32. (DO)
distal hereditary motor neuropathy type 2B  

Synonyms
Exact Synonyms: DHMN2D ;   DISTAL HEREDITARY MOTOR NEURONOPATHY 2D ;   Distal Hereditary Motor Neuronopathy, Type IID ;   HMN IID ;   HMN2D ;   distal hereditary motor neuropathy type IID ;   distal spinal muscular atrophy with calf predominance ;   distal spinal muscular atrophy, autosomal dominant, calf-predominant
Primary IDs: OMIM:615575
Alternate IDs: RDO:9001002
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/24207122 "DO"

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