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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 12
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Accession:DOID:0110134 term browser browse the term
Definition:A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. (DO)
Synonyms:exact_synonym: BARDET-BIEDL SYNDROME TYPE 12;   BBS12;   BBS12-RELATED CONDITION
 primary_id: MESH:C565921
 alt_id: OMIM:615989
 xref: EFO:0009023;   GARD:10211


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      Bardet-Biedl syndrome 233
        Bardet-Biedl syndrome 12 1
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18307
        genetic disease 18251
          monogenic disease 10375
            autosomal genetic disease 9528
              autosomal recessive disease 6590
                Bardet-Biedl syndrome 233
                  Bardet-Biedl syndrome 12 1
paths to the root