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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:VERVERI-BRADY SYNDROME
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Accession:DOID:9009176 term browser browse the term
Definition:A disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. (OMIM)
Synonyms:exact_synonym: VERBRAS
 primary_id: OMIM:617982
For additional species annotation, visit the Alliance of Genome Resources.


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VERVERI-BRADY SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: VERVERI-BRADY SYNDROME ClinVar
OMIM
PMID:25741868 PMID:28692176 PMID:30281152 NCBI chr 8:117,305,803...117,346,738
Ensembl chr 8:117,307,339...117,346,736
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      VERVERI-BRADY SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  intellectual disability 2163
                    VERVERI-BRADY SYNDROME 1
paths to the root