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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:615995
ClinVar Annotator: match by term: BBIP1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 18		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:24026985 PMID:25741868 PMID:25741913 More... NCBI chr 1:252,943,589...252,959,512
Ensembl chr 1:252,945,557...252,959,352 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Bardet-Biedl syndrome 233
        Bardet-Biedl syndrome 18 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                Bardet-Biedl syndrome 233
                  Bardet-Biedl syndrome 18 1
paths to the root