Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Bainbridge-Ropers Syndrome
go back to main search page
Accession:DOID:9000818 term browser browse the term
Synonyms:exact_synonym: BRPS
 primary_id: OMIM:615485
 alt_id: RDO:9000738
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Bainbridge-Ropers Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Bainbridge-Ropers syndrome
ClinVar Annotator: match by OMIM:615485
OMIM
ClinVar
PMID:23383720 PMID:25326635 PMID:25741868 PMID:26647312 PMID:27075689 PMID:27901041 PMID:28100473 PMID:28492532 PMID:29305346 PMID:29367179 PMID:31180560 PMID:32581362 PMID:32860008 NCBI chr18:13,322,148...13,496,230
Ensembl chr18:13,386,133...13,491,735
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Bainbridge-Ropers 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
              Neurodevelopmental Disorders 4520
                Developmental Disabilities 503
                  Bainbridge-Ropers Syndrome 1
paths to the root