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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:YOU-HOOVER-FONG SYNDROME
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Accession:DOID:9008826 term browser browse the term
Synonyms:exact_synonym: YHFS
 primary_id: OMIM:616954;   RDO:9001584
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
YOU-HOOVER-FONG SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: You-Hoover-Fong syndrome ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:27132593 NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      YOU-HOOVER-FONG SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Multiple Abnormalities 2434
            YOU-HOOVER-FONG SYNDROME 1
paths to the root