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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:Bohring Syndrome
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Accession:DOID:9001582 term browser browse the term
Synonyms:exact_synonym: BOPS;   Bohring-Opitz syndrome;   C-like syndrome;   Opitz trigonocephaly-like syndrome
 primary_id: MESH:C537419
 alt_id: OMIM:605039
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Bohring Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by OMIM:605039
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: C-like syndrome
ClinVar Annotator: match by term: Bohring-Opitz syndrome
OMIM
ClinVar
CTD
PMID:18414213 PMID:21706002 PMID:22419483 PMID:24033266 PMID:25131622 More... NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: C-like syndrome ClinVar PMID:25741868 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Bohring Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Bohring Syndrome 2
paths to the root