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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant
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Accession:DOID:9001871 term browser browse the term
Synonyms:primary_id: MESH:C538534;   RDO:0004478



show annotations for term's descendants           Sort by:
Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:frameshift mutation, missense mutations: :multiple
DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human)
DNA:missense mutations, nonsense mutations:exon:multiple
RGD PMID:16882753 PMID:15845591 PMID:16764984 RGD:11567239, RGD:11567240, RGD:11567241 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19072
    syndrome 11111
      Kallmann syndrome 33
        Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 19072
    Developmental Disease 14560
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        Congenital Abnormalities 7749
          Urogenital Abnormalities 452
            disorder of sexual development 234
              46, XY Disorders of Sex Development 81
                Kallmann syndrome 33
                  Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant 1
paths to the root