autosomal dominant distal hereditary motor neuronopathy 7

Summary

DOID:0111199 - autosomal dominant distal hereditary motor neuronopathy 7

Disease Ontology 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.

Synonyms: DHMN7A, distal hereditary motor neuronopathy type 7, distal hereditary motor neuropathy type VIIA, Harper-Young myopath, HMN7A, dHMN7, DHMNVPy, distal spinal muscular atrophy with vocal cord paralysis, distal spinal muscular atrophy with vocal cord paralysis type 7A, HMN VIIA

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc5a7

MIM:

MIM:158580 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 7; HMND7

MIM:158580 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 7; HMND7

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal dominant distal hereditary motor neuronopathy (is_a)