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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:Beaulieu-Boycott-Innes Syndrome
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Accession:DOID:9006768 term browser browse the term
Synonyms:exact_synonym: BBIS;   microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations
 primary_id: OMIM:613680
For additional species annotation, visit the Alliance of Genome Resources.


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Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thoc6 THO complex 6 ISO ClinVar Annotator: match by OMIM:613680
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome
OMIM
ClinVar
PMID:11060033 PMID:15998806 PMID:18414213 PMID:19059247 PMID:20503307 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:30238602 PMID:30476144 NCBI chr10:12,989,135...12,994,495
Ensembl chr10:12,989,135...12,994,495
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Beaulieu-Boycott-Innes Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal dominant disease 3040
                complex cortical dysplasia with other brain malformations 750
                  Malformations of Cortical Development, Group I 605
                    microcephaly 439
                      Beaulieu-Boycott-Innes Syndrome 1
paths to the root