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ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism 3 with or without anosmia
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Accession:DOID:0090092 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. (DO)
Synonyms:exact_synonym: HH3
 narrow_synonym: Kallmann syndrome 3;   Kallmann syndrome type 3, recessive;   hypogonadotropic hypogonadism 3 without anosmia
 primary_id: OMIM:244200
 alt_id: RDO:9003766
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hypogonadotropic hypogonadism 3 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prokr2 prokineticin receptor 2 JBrowse link 3 125,006,180 125,021,020 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 3 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
        Congenital Abnormalities 3598
          Urogenital Abnormalities 231
            sex development disorder 100
              46, XY Disorders of Sex Development 37
                Kallmann syndrome 8
                  hypogonadotropic hypogonadism 3 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.