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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
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
OMIM
ClinVar
CTD
PMID:17236141 PMID:23995701 PMID:24239177 PMID:25741868 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      brachydactyly-syndactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      musculoskeletal system disease 6418
        connective tissue disease 4422
          bone disease 3108
            bone development disease 1414
              dysostosis 392
                synostosis 239
                  syndactyly 61
                    brachydactyly-syndactyly syndrome 1
paths to the root