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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
 primary_id: OMIM:617557;   RDO:9001765
For additional species annotation, visit the Alliance of Genome Resources.


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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: Gabriele de Vries syndrome
ClinVar
OMIM
PMID:21076407, PMID:28575647 NCBI chr 6:132,702,443...132,726,848
Ensembl chr 6:132,702,448...132,727,046
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      GABRIELE-DE VRIES SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              Neurodevelopmental Disorders 4554
                GABRIELE-DE VRIES SYNDROME 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.