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ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism 12 with or without anosmia
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Accession:DOID:0090072 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. (DO)
Synonyms:exact_synonym: FIGD;   Gonadotropin deficiency, familial idiopathic;   HH12;   ISOLATED GNRH DEFICIENCY;   familial hypogonadotrophic eunuchoidism;   familial idiopathic gonadotrpin deficiency
 primary_id: MESH:C535764;   RDO:0001059
 alt_id: OMIM:614841;   RDO:9000147
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadotropic hypogonadism 12 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnrh1 gonadotropin releasing hormone 1 JBrowse link 15 44,441,856 44,446,064 RGD:9685133
RGD:8554872
RGD:9685134
RGD:9685137
RGD:7240710
G Gnrhr gonadotropin releasing hormone receptor JBrowse link 14 23,480,462 23,498,450 RGD:8554872
G Kctd9 potassium channel tetramerization domain containing 9 JBrowse link 15 44,411,591 44,439,645 RGD:8554872
G Tacr3 tachykinin receptor 3 JBrowse link 2 240,021,152 240,118,971 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          hypogonadotropic hypogonadism 12 with or without anosmia 4
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      endocrine system disease 4706
        gonadal disease 838
          hypogonadism 108
            hypogonadotropic hypogonadism 35
              hypogonadotropic hypogonadism 12 with or without anosmia 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.