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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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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          hypogonadotropic hypogonadism 8 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      endocrine system disease 4646
        gonadal disease 806
          hypogonadism 115
            hypogonadotropic hypogonadism 37
              hypogonadotropic hypogonadism 8 with or without anosmia 1
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