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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:Bardet-Biedl syndrome 18
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Accession:DOID:0110140 term browser browse the term
Definition:A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25. (DO)
Synonyms:exact_synonym: BBS18
 narrow_synonym: BBIP1-RELATED CONDITION
 primary_id: OMIM:615995


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Bardet-Biedl syndrome 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbip1 BBSome interacting protein 1 ISO
IAGP		 OMIM:615995
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BBIP1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 18		 OMIM
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:24026985 PMID:25741868 PMID:25741913 More... NCBI chr19:53,918,087...53,933,058
Ensembl chr19:53,918,292...53,933,058 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18297
    syndrome 10342
      Bardet-Biedl syndrome 234
        Bardet-Biedl syndrome 18 1
Path 2
Term Annotations click to browse term
  disease 18297
    Developmental Disease 17907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17777
        genetic disease 17751
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal recessive disease 6606
                Bardet-Biedl syndrome 234
                  Bardet-Biedl syndrome 18 1
paths to the root