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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 type D
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Accession:DOID:0110971 term browser browse the term
Definition:A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. (DO)
Synonyms:exact_synonym: BDD;   stub thumb
 primary_id: MESH:C562420
 alt_id: OMIM:113200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
brachydactyly type D 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:113200
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12620993 PMID:12649808 PMID:16314414 PMID:24239177 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 17205
    Developmental Disease 10918
      bone development disease 1414
        dysostosis 392
          brachydactyly 31
            brachydactyly type D 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              dysostosis 392
                brachydactyly 31
                  brachydactyly type D 1
paths to the root