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 5
go back to main search page
Accession:DOID:9003232 term browser browse the term
Synonyms:primary_id: MESH:C567220



show annotations for term's descendants           Sort by:
Kallmann Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Kallmann syndrome 5 ClinVar PMID:9536098 PMID:15300250 PMID:16155193 PMID:16615981 PMID:17576681 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      Kallmann syndrome 33
        Kallmann Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 19076
    Developmental Disease 14561
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        genetic disease 13283
          monogenic disease 10664
            autosomal genetic disease 9837
              autosomal dominant disease 6521
                hypogonadotropic hypogonadism 5 with or without anosmia 1
                  Kallmann Syndrome 5 1
paths to the root