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GENE - TERM ANNOTATION REPORT

RGD ID: 69149
Species: Homo sapiens
RGD Object: Gene
Symbol: GHR
Name: growth hormone receptor
Acc ID: DOID:0060870
Term: isolated growth hormone deficiency
Definition: A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8288694 "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)
GHR IAGP 1601315RGDLaron syndrome,OMIM:262500;DNA:deletion 
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