Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Kallmann Syndrome 6
go back to main search page
Accession:DOID:9008142 term browser browse the term
Synonyms:primary_id: MESH:C567199



show annotations for term's descendants           Sort by:
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10904
      Kallmann syndrome 33
        Kallmann Syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14386
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        Congenital Abnormalities 7592
          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