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GENE - TERM ANNOTATION REPORT

RGD ID: 12128191
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: LHX3
Name: LIM homeobox 3
Acc ID: DOID:0061021
Term: combined pituitary hormone deficiency 3
Definition: A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10835633/ "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)
LHX3 ISOLHX3 (Homo sapiens)7240710OMIM  
LHX3 ISOLHX3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndromePMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 PMID:17327381 PMID:17438671 PMID:18407919 PMID:19837867 PMID:21249393 PMID:22286346 PMID:25741868 PMID:28492532 PMID:29261175 PMID:30262920 PMID:32870266
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