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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 10
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Accession:DOID:0110132 term browser browse the term
Definition:A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21. (DO)
Synonyms:exact_synonym: BARDET-BIEDL SYNDROME TYPE 10;   BBS10;   BBS10-RELATED CONDITION
 broad_synonym: BARDET-BIEDL SYNDROME 1/10, DIGENIC
 primary_id: MESH:C565919
 alt_id: OMIM:615987
 xref: EFO:0009022;   GARD:10209


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Bardet-Biedl syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs10 Bardet-Biedl syndrome 10 ISO
ISS		 ClinVar Annotator: match by term: BBS10-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic
OMIM:615987
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16582908 PMID:16823392 PMID:17106446 PMID:17576681 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141 		JBrowse link
G Osbpl8 oxysterol binding protein-like 8 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 ClinVar PMID:20472660 PMID:22773737 PMID:25741868 PMID:25982971 PMID:27486776 More... NCBI chr 7:46,596,944...46,749,888
Ensembl chr 7:46,596,983...46,749,888 		JBrowse link
Bardet-Biedl Syndrome 6/10, Digenic term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Bardet-biedl syndrome 6/10, digenic ClinVar PMID:16582908 PMID:20120035 PMID:20805367 PMID:20876674 PMID:21052717 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141 		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 10 2
          Bardet-Biedl Syndrome 6/10, Digenic 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 10 2
                    Bardet-Biedl Syndrome 6/10, Digenic 1
paths to the root