About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory