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ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism 6 with or without anosmia
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Accession:DOID:0090086 term browser browse the term
Definition:A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. (DO)
Synonyms:exact_synonym: HH6
 primary_id: OMIM:612702
 alt_id: RDO:9003764
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hypogonadotropic hypogonadism 6 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      endocrine system disease 4798
        gonadal disease 845
          hypogonadism 107
            hypogonadotropic hypogonadism 35
              hypogonadotropic hypogonadism 6 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                hypogonadotropic hypogonadism 6 with or without anosmia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.