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ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism 19 with or without anosmia
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Accession:DOID:0090090 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. (DO)
Synonyms:exact_synonym: HH19
 primary_id: OMIM:615269
 alt_id: RDO:9000884
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadotropic hypogonadism 19 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dusp6 dual specificity phosphatase 6 JBrowse link 7 41,475,163 41,479,393 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      endocrine system disease 4810
        gonadal disease 849
          hypogonadism 109
            hypogonadotropic hypogonadism 36
              hypogonadotropic hypogonadism 19 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal dominant disease 2156
                hypogonadotropic hypogonadism 19 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.