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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
 broad_synonym: ASXL1-RELATED CONDITION
 primary_id: MESH:C537419
 alt_id: OMIM:605039


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 term: Bohring-Opitz syndrome OMIM
ClinVar		 PMID:16412590 PMID:18414213 PMID:20880116 PMID:21576631 PMID:21706002 More... NCBI chr20:28,647,004...28,727,865
Ensembl chr20:29,774,582...29,850,453 		JBrowse link
G KLHL7 kelch like family member 7 ISO ClinVar Annotator: match by term: Bohring-Opitz syndrome ClinVar PMID:25741868 NCBI chr 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      Bohring Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            disease of mental health 8111
              developmental disorder of mental health 5547
                specific developmental disorder 4510
                  intellectual disability 4322
                    Bohring Syndrome 2
paths to the root