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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      endocrine system disease 4799
        gonadal disease 846
          hypogonadism 108
            hypogonadotropic hypogonadism 35
              hypogonadotropic hypogonadism 18 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                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.