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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
 alt_id: RDO:9000886
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      endocrine system disease 4810
        gonadal disease 849
          hypogonadism 109
            hypogonadotropic hypogonadism 36
              hypogonadotropic hypogonadism 21 with or without anosmia 2
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal dominant disease 2156
                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.