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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 CONDITION;   TELO2-related intellectual disability-neurodevelopmental disorder;   YHFS
 primary_id: MIM:616954
 xref: EFO:0009061



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YOU-HOOVER-FONG SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder ClinVar PMID:25741868 PMID:31954878 NCBI chr20:21,330,990...21,508,580
Ensembl chr20:21,332,147...21,463,122
JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: TELO2-related condition | ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:27132593 More... NCBI chr10:14,624,998...14,640,235
Ensembl chr10:14,120,818...14,135,698
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    syndrome 11377
      YOU-HOOVER-FONG SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 19142
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13716
        Congenital Abnormalities 7890
          Multiple Abnormalities 3843
            YOU-HOOVER-FONG SYNDROME 2
paths to the root