ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism 5 with or without anosmia
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Accession:DOID:0090084 term browser browse the term
Definition:A hypogonadotropic hypogonadism that is characterised by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. (DO)
Synonyms:exact_synonym: HH5
 primary_id: OMIM:612370
 alt_id: RDO:9003762
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hypogonadotropic hypogonadism 5 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:7240710
RGD:8554872
Kallmann Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          hypogonadotropic hypogonadism 5 with or without anosmia 1
            Kallmann Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      endocrine system disease 4707
        gonadal disease 848
          hypogonadism 118
            hypogonadotropic hypogonadism 37
              hypogonadotropic hypogonadism 5 with or without anosmia 1
                Kallmann Syndrome 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.