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GENE - TERM ANNOTATION REPORT

RGD ID: 69231
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hsd17b10
Name: hydroxysteroid (17-beta) dehydrogenase 10
Acc ID: DOID:0060810
Term: syndromic X-linked intellectual disability type 10
Definition: A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10521307 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17236142 "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)
Hsd17b10 ISOHSD17B10 (Homo sapiens)7240710OMIM  
Hsd17b10 ISOHSD17B10 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:25526675
Hsd17b10 ISOHSD17B10 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR | ClinVar Annotator: match by term: HSD10 mitochondrial disease | ClinVar Annotator: match by term: HSD17B10-Related DisorderPMID:10521307 PMID:11102558 PMID:12112118 PMID:12555940 PMID:12696021 PMID:12872843 PMID:15059617 PMID:15342248 PMID:16148061 PMID:16176262 PMID:17236142 PMID:17618155 PMID:18996107 PMID:20077426 PMID:22132097 PMID:23266819 PMID:24549042 PMID:25741868 PMID:26950678 PMID:28333917 PMID:28492532 PMID:31654490 PMID:34765396
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