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GENE - TERM ANNOTATION REPORT

RGD ID: 69124
Species: Mus musculus
RGD Object: Gene
Symbol: Lep
Name: leptin
Acc ID: DOID:0111334
Term: congenital leptin deficiency
Definition: A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10523015 "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)
Lep ISOLEP (Homo sapiens)7240710OMIM  
Lep ISOLEP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Lep ISOLEP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiencyPMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:20140086 PMID:25551525 PMID:25741868 PMID:28209183 PMID:28377240 PMID:28492532 PMID:37314706 PMID:9202122 PMID:9500540 PMID:9745435
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