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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:Bainbridge-Ropers syndrome
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Accession:DOID:0080893 term browser browse the term
Definition:A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. (DO)
Synonyms:exact_synonym: ASXL3-related disorder;   BRPS
 primary_id: OMIM:615485
 xref: GARD:13259;   ORDO:352577
For additional species annotation, visit the Alliance of Genome Resources.


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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:18381613 PMID:23383720 PMID:25326635 PMID:25741868 PMID:26647312 PMID:27075689 PMID:27352967 PMID:27854218 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Bainbridge-Ropers syndrome 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              Neurodevelopmental Disorders 5563
                Developmental Disabilities 519
                  Bainbridge-Ropers syndrome 1
paths to the root