X-linked distal spinal muscular atrophy 3

Summary

DOID:0111196 - X-linked distal spinal muscular atrophy 3

Disease Ontology Definition:A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1.

Synonyms: ATP7A-related distal motor neuropathy, DSMAX, SMAX3, X-linked dHMN3, X-linked distal hereditary motor neuropathy type 3, X-linked dSMA3, X-linked recessive distal spinal muscular atrophy

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

: atp7a

MIM:

MIM:300489 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; HMNX

MIM:300489 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; HMNX

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

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

Parent(s): spinal muscular atrophy (is_a), X-linked recessive disease (is_a)