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GENE - TERM ANNOTATION REPORT

RGD ID: 621806
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hsd17b4
Name: hydroxysteroid (17-beta) dehydrogenase 4
Acc ID: DOID:0050562
Term: West syndrome
Definition: An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. (DO)
Definition Source(s): https://rarediseases.org/rare-diseases/west-syndrome/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24268986 "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)
Hsd17b4 ISOHSD17B4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:16919904
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