ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism 18 with or without anosmia
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Accession:DOID:0090076 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. (DO)
Synonyms:exact_synonym: HH18
 narrow_synonym: hypogonadotropic hypogonadism 18 with anosmia
 primary_id: OMIM:615267
 alt_id: RDO:9000882
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hypogonadotropic hypogonadism 18 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il17rd interleukin 17 receptor D JBrowse link 16 2,670,471 2,737,271 RGD:7240710
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 18 with or without anosmia 1
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 18 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.