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Ontology Browser

Term:
distal hereditary motor neuronopathy type 7A (DOID:0111201)
Annotations: Rat: (9) Mouse: (8) Human: (15) Chinchilla: (6) Bonobo: (8) Dog: (9) Squirrel: (7) Pig: (9)
Parent Terms Term With Siblings Child Terms
distal hereditary motor neuronopathy type 7A  
A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. (DO)
distal hereditary motor neuronopathy type 7B  

Synonyms
Exact Synonyms: DHMN7A ;   Distal Hereditary Motor Neuropathy, Type VIIA ;   HMN VIIA ;   HMN7A ;   Harper-Young Myopathy ;   Harper-Young myopath ;   distal hereditary motor neuronopathy type VIIA ;   distal spinal muscular atrophy with vocal cord paralysis type 7A
Primary IDs: MESH:C563562
Alternate IDs: OMIM:158580 ;   RDO:0012787
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23141292 "DO"

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