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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.


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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 3:61,590,376...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 16035
    Developmental Diseases 9546
      bone development disease 1343
        dysostosis 344
          brachydactyly 37
            brachydactyly type D 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              dysostosis 344
                brachydactyly 37
                  brachydactyly type D 1
paths to the root

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