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GENE - TERM ANNOTATION REPORT

RGD ID: 1562213
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ucn3
Name: urocortin 3
Acc ID: DOID:0060878
Term: hypoparathyroidism-deafness-renal disease syndrome
Definition: A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10935639 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/874665 "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)
Ucn3 ISOUCN3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndromePMID:25741868
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