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ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism 2 with or without anosmia
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Accession:DOID:0090083 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. (DO)
Synonyms:exact_synonym: HH2;   KAL2;   Kallmann syndrome 2
 narrow_synonym: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
 related_synonym: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
 primary_id: OMIM:147950
 alt_id: RDO:9003769
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hypogonadotropic hypogonadism 2 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Kallmann syndrome 8
        hypogonadotropic hypogonadism 2 with or without anosmia 1
          Kallmann Syndrome 2 with Bimanual Synkinesia 0
          Kallmann Syndrome 2 with Cleft Lip or Palate 0
          Kallmann Syndrome 2 with Selective Tooth Agenesis 0
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        Congenital Abnormalities 3598
          Urogenital Abnormalities 231
            sex development disorder 100
              46, XY Disorders of Sex Development 37
                Kallmann syndrome 8
                  hypogonadotropic hypogonadism 2 with or without anosmia 1
                    Kallmann Syndrome 2 with Bimanual Synkinesia 0
                    Kallmann Syndrome 2 with Cleft Lip or Palate 0
                    Kallmann Syndrome 2 with Selective Tooth Agenesis 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.