Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


RGD ID: 11832834
Species: Pan paniscus
RGD Object: Gene
Symbol: ADSL
Name: adenylosuccinate lyase
Acc ID: DOID:891
Term: progressive myoclonus epilepsy
Definition: A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
Definition Source(s): MESH:D020191,
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:13169169068941ClinVarClinVar Annotator: match by term: Myoclonic epilepsy, progressive

PMID:10888601, PMID:18524658, PMID:20127976, PMID:22180458, PMID:25741868, PMID:28492532
 ISSRGD:13169169068941ClinVarClinVar Annotator: match by term: Myoclonic epilepsy, progressive

Go Back to source page   Continue to Ontology report


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.