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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
Definition:This is a disorder characterized by severely delayed global development, microcephaly, abnormal balance and movement.
Synonyms:exact_synonym: TELO2-related intellectual disability-neurodevelopmental disorder;   YHFS
 primary_id: OMIM:616954
 alt_id: RDO:9001584
 xref: EFO:0009061
For additional species annotation, visit the Alliance of Genome Resources.



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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: TELO2-related intellectual disability-neurodevelopmental disorder OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:27132593 PMID:28492532 NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      YOU-HOOVER-FONG SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        Congenital Abnormalities 6831
          Multiple Abnormalities 3167
            YOU-HOOVER-FONG SYNDROME 1
paths to the root