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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
 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 chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24033266 PMID:25741868 PMID:27132593 PMID:28492532 PMID:32940098 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 21128
    syndrome 10832
      YOU-HOOVER-FONG SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        Congenital Abnormalities 7567
          Multiple Abnormalities 3679
            YOU-HOOVER-FONG SYNDROME 2
paths to the root