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DOID:0111201 - distal hereditary motor neuronopathy type 7A
Disease Ontology Definition: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.
Synonyms: DHMN7A, HMN VIIA, HMN7A, Harper-Young myopath, distal hereditary motor neuropathy type VIIA, distal spinal muscular atrophy with vocal cord paralysis type 7A,
Echinobase Genes
:
slc5a7.3
| MIM:158580 - neuronopathy, distal hereditary motor, type viia; hmn7a |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee