ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism 21 with or without anosmia
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Accession:DOID:0090093 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. (DO)
Synonyms:exact_synonym: HH21
 primary_id: OMIM:615271;   RDO:9000886
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hypogonadotropic hypogonadism 21 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flrt3 fibronectin leucine rich transmembrane protein 3 JBrowse link 3 134,684,446 134,696,586 RGD:7240710
RGD:8554872
G Macrod2 mono-ADP ribosylhydrolase 2 JBrowse link 3 135,729,839 136,422,082 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          hypogonadotropic hypogonadism 21 with or without anosmia 2
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      endocrine system disease 4707
        gonadal disease 848
          hypogonadism 118
            hypogonadotropic hypogonadism 37
              hypogonadotropic hypogonadism 21 with or without anosmia 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.