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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
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          hypogonadotropic hypogonadism 5 with or without anosmia 1
            Kallmann Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          monogenic disease 4798
            autosomal genetic disease 3774
              autosomal dominant disease 2239
                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.