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Disease Ontology Browser
autosomal dominant distal hereditary motor neuronopathy 7 (DOID:0111199)
Alliance: disease page
Synonyms: dHMN7; DHMN7A; DHMNVPy; distal hereditary motor neuronopathy type 7; distal hereditary motor neuropathy type VIIA; distal spinal muscular atrophy with vocal cord paralysis; distal spinal muscular atrophy with vocal cord paralysis type 7A; Harper-Young myopath; HMN7A; HMN VIIA
Alt IDs: OMIM:158580, ORDO:139589
Definition: An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory