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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 19
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Accession:DOID:0110141 term browser browse the term
Definition:A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: BBS19;   IFT27-RELATED CONDITION
 primary_id: OMIM:615996


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Bardet-Biedl syndrome 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift27 intraflagellar transport 27 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 | ClinVar Annotator: match by term: IFT27-related condition		 OMIM
CTD
ClinVar		 PMID:24488770 PMID:25741868 PMID:27894351 PMID:28492532 PMID:29704304 More... NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416 		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 19 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 19 1
paths to the root