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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 Annotator: match by term: Ververi-Brady syndrome
ClinVar
OMIM
PMID:25741868 PMID:28692176 PMID:30281152 PMID:33009816 NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      VERVERI-BRADY SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    VERVERI-BRADY SYNDROME 1
paths to the root