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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 8
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Accession:DOID:0110130 term browser browse the term
Definition:A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31. (DO)
Synonyms:exact_synonym: BBS8
 broad_synonym: TTC8-RELATED CONDITION
 primary_id: MESH:C565917
 alt_id: OMIM:615985
 xref: GARD:10207


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Bardet-Biedl syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc8 tetratricopeptide repeat domain 8 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:615985
ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 | ClinVar Annotator: match by term: TTC8-related condition		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:14520415 PMID:16199547 PMID:16308660 PMID:16877420 More... NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Bardet-Biedl syndrome 233
        Bardet-Biedl syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                Bardet-Biedl syndrome 233
                  Bardet-Biedl syndrome 8 1
paths to the root