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GENE - TERM ANNOTATION REPORT

RGD ID: 1309726
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Abhd16b
Name: abhydrolase domain containing 16B
Acc ID: DOID:0112202
Term: developmental and epileptic encephalopathy
Definition: An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28276062/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/31926847/ "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Abhd16b ISOABHD16B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathyPMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 PMID:28492532 PMID:29215089 PMID:30866059
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