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ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism 8 with or without anosmia
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Accession:DOID:0090074 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. (DO)
Synonyms:exact_synonym: HH8
 narrow_synonym: hypogonadotropic hypogonadism 8 without anosmia
 primary_id: OMIM:614837
 alt_id: RDO:9000143
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hypogonadotropic hypogonadism 8 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kiss1r KISS1 receptor JBrowse link 7 12,606,210 12,609,868 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      endocrine system disease 4934
        gonadal disease 868
          hypogonadism 117
            hypogonadotropic hypogonadism 37
              hypogonadotropic hypogonadism 8 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal recessive disease 2386
                hypogonadotropic hypogonadism 8 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.