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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: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

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brachydactyly-syndactyly syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeobox D13 ISO ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome | ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome OMIM
ClinVar		 PMID:17236141 PMID:22233338 PMID:23995701 PMID:25741868 NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      brachydactyly-syndactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      Skin and Connective Tissue Diseases 6452
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2181
              dysostosis 542
                synostosis 353
                  syndactyly 137
                    brachydactyly-syndactyly syndrome 1
paths to the root