distal hereditary motor neuronopathy type 7A - Ontology Browser

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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)

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distal hereditary motor neuronopathy type 7 + is-a

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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