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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 20
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Accession:DOID:0081009 term browser browse the term
Definition:A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: BBS20
 primary_id: OMIM:619471
 alt_id: DOID:9002181


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Bardet-Biedl syndrome 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 OMIM
ClinVar		 PMID:24140113 PMID:24290075 PMID:25168386 PMID:25741868 PMID:26763875 More... NCBI chr17:21,389,462...21,426,970
Ensembl chr17:21,389,482...21,426,796 		JBrowse link
G KRTCAP3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 ClinVar PMID:25168386 PMID:25741868 PMID:28492532 NCBI chr17:21,387,682...21,389,385
Ensembl chr17:21,387,781...21,389,383 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 10115
      Bardet-Biedl syndrome 233
        Bardet-Biedl syndrome 20 2
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Disease 13502
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12545
        genetic disease 12201
          monogenic disease 10183
            autosomal genetic disease 9394
              autosomal recessive disease 6541
                Bardet-Biedl syndrome 233
                  Bardet-Biedl syndrome 20 2
paths to the root