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Disease Ontology Browser
spinal muscular atrophy with progressive myoclonic epilepsy (DOID:0111527)
Alliance: disease page
Synonyms: hereditary myoclonus-progressive distal muscular atrophy syndrome; Jankovic-Rivera syndrome; SMA-PME; SMAPME
Alt IDs: OMIM:159950, MESH:C537563, ORDO:2590, UMLS_CUI:C1834569
Definition: A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22.

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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12/10/2024
MGI 6.24 		The Jackson Laboratory