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ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism 20 with or without anosmia
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Accession:DOID:0090082 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. (DO)
Synonyms:exact_synonym: HH20
 narrow_synonym: hypogonadotropic hypogonadism 20 without anosmia
 primary_id: OMIM:615270
 alt_id: RDO:9000885
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hypogonadotropic hypogonadism 20 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf17 fibroblast growth factor 17 JBrowse link 15 52,326,758 52,337,360 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      endocrine system disease 4935
        gonadal disease 867
          hypogonadism 117
            hypogonadotropic hypogonadism 37
              hypogonadotropic hypogonadism 20 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal dominant disease 2713
                hypogonadotropic hypogonadism 20 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.