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RGD uses the Human Disease Ontology (DO, 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:brachydactyly-syndactyly syndrome
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Accession:DOID:0050689 term browser browse the term
Definition:A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: BDSD
 narrow_synonym: BDSDO;   brachydactyly-syndactyly-oligodactyly syndrome
 primary_id: MESH:C565193
 alt_id: OMIM:610713
For additional species annotation, visit the Alliance of Genome Resources.

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brachydactyly-syndactyly syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by OMIM:610713
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome
ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome
PMID:9758628, PMID:12649808, PMID:17236141, PMID:18177473, PMID:18399101, PMID:19429598, PMID:19686284, PMID:21814222, PMID:22233338, PMID:23995701, PMID:24239177, PMID:25741868, PMID:26581570, PMID:30311386 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      brachydactyly-syndactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              dysostosis 344
                synostosis 229
                  syndactyly 58
                    brachydactyly-syndactyly syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.