spinal muscular atrophy with progressive myoclonic epilepsy

Summary

DOID:0111527 - spinal muscular atrophy with progressive myoclonic epilepsy

Disease Ontology 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.

Synonyms: Jankovic-Rivera syndrome, SMA-PME, SMAPME, hereditary myoclonus-progressive distal muscular atrophy syndrome,

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

: asah1

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

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

Parent(s): autosomal recessive disease (is_a), spinal muscular atrophy (is_a)