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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 1
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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;   VERBRAS1
 broad_synonym: Ververi-Brady syndrome
 xref: MIM:617982


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Ververi-Brady syndrome 1 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 8:118,095,435...118,135,001
Ensembl chr 8:118,095,429...118,134,999 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      Ververi-Brady syndrome 1 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
              developmental disorder of mental health 2218
                specific developmental disorder 1593
                  intellectual disability 1376
                    Ververi-Brady syndrome 1 1
paths to the root