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Disease Ontology Browser
X-linked distal spinal muscular atrophy 3 (DOID:0111196)
Alliance: disease page
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
Alt IDs: OMIM:300489, MESH:C564506, ORDO:139557, UMLS_CUI:C1845359
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.

Disease References using Mouse Models (2)
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
11/19/2024
MGI 6.24 		The Jackson Laboratory