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RGD uses the Human Disease Ontology (DO, 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
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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
PMID:21706002, PMID:23383720, PMID:24044690, PMID:25326635, PMID:25363760, PMID:25741868, PMID:26647312, PMID:27075689, PMID:27901041, PMID:28100473, PMID:28492532, PMID:28955728, PMID:29305346, PMID:29367179, PMID:32581362 NCBI chr18:13,322,148...13,496,230
Ensembl chr18:13,386,133...13,491,735
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Bainbridge-Ropers Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              Neurodevelopmental Disorders 4554
                Developmental Disabilities 641
                  Bainbridge-Ropers Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.