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GENE - TERM ANNOTATION REPORT

RGD ID: 2630
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fshb
Name: follicle stimulating hormone subunit beta
Acc ID: DOID:0090088
Term: hypogonadotropic hypogonadism 24 without anosmia
Definition: A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8220432 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9271483 "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)
Fshb ISOFSHB (Homo sapiens)7240710OMIM  
Fshb ISOFSHB (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Fshb ISOFSHB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmiaPMID:12161499 PMID:20488225 PMID:22791757 PMID:25052309 PMID:25741868 PMID:28392474 PMID:28492532 PMID:32242295 PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 PMID:9806482
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