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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:Kallmann Syndrome 5
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Accession:DOID:9003232 term browser browse the term
Synonyms:primary_id: MESH:C567220

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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:17576681 PMID:18834967 PMID:22461308 PMID:25741868 More... NCBI chr 8:56,654,939...56,782,803
Ensembl chr 8:56,657,826...56,785,804 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17472
    syndrome 9936
      Kallmann syndrome 34
        Kallmann Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 17472
    Developmental Disease 17376
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17311
        genetic disease 17297
          monogenic disease 10028
            autosomal genetic disease 9250
              autosomal dominant disease 6072
                hypogonadotropic hypogonadism 5 with or without anosmia 1
                  Kallmann Syndrome 5 1
paths to the root