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RGD uses the Human Disease Ontology (DO, 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:Kallmann Syndrome 6
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Accession:DOID:9008142 term browser browse the term
Synonyms:primary_id: MESH:C567199

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Kallmann Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Kallmann syndrome 6 ClinVar PMID:22399515 PMID:23533228 PMID:25131394 PMID:25741868 PMID:26467025 More... NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19072
    syndrome 11111
      Kallmann syndrome 33
        Kallmann Syndrome 6 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
                  Kallmann Syndrome 6 1
paths to the root