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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 15992
    disease of anatomical entity 15263
      endocrine system disease 4935
        gonadal disease 867
          hypogonadism 117
            hypogonadotropic hypogonadism 37
              hypogonadotropic hypogonadism 19 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal dominant disease 2713
                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.