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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:GABRIELE-DE VRIES SYNDROME
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Accession:DOID:9001966 term browser browse the term
Definition:An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. (OMIM)
Synonyms:exact_synonym: GADEVS;   YY1-RELATED CONDITION
 primary_id: MIM:617557
 xref: NCI:C165531


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GABRIELE-DE VRIES SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yy1 YY1 transcription factor ISO ClinVar Annotator: match by term: Gabriele de Vries syndrome | ClinVar Annotator: match by term: YY1-related condition OMIM
ClinVar		 PMID:15190078 PMID:21076407 PMID:25741868 PMID:28575647 PMID:31127623 More... NCBI chr 6:133,471,615...133,500,875
Ensembl chr 6:133,471,562...133,497,257 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      GABRIELE-DE VRIES SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            disease of mental health 3944
              Neurodevelopmental Disorders 2634
                GABRIELE-DE VRIES SYNDROME 1
paths to the root