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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: QRICH1-RELATED CONDITION;   VERBRAS
 primary_id: MIM:617982


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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: QRICH1-related condition | ClinVar Annotator: match by term: Ververi-Brady syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28692176 PMID:30281152 PMID:33009816 More... NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      VERVERI-BRADY SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              developmental disorder of mental health 5647
                specific developmental disorder 4611
                  intellectual disability 4384
                    VERVERI-BRADY SYNDROME 1
paths to the root