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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 E
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Accession:DOID:9006432 term browser browse the term
Synonyms:exact_synonym: BDE
 primary_id: MESH:C566194

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Brachydactyly, Type E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24715439 NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210 		JBrowse link
G Hoxd13 homeobox D13 ISO ClinVar Annotator: match by term: Brachydactyly type E ClinVar PMID:12620993 PMID:12649808 PMID:16314414 NCBI chrNW_004955403:20,568,314...20,575,579
Ensembl chrNW_004955403:20,568,314...20,575,579 		JBrowse link
brachydactyly type E1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Brachydactyly syndrome type E ClinVar PMID:10958686 PMID:11486037 PMID:25741868 PMID:33537682 NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210 		JBrowse link
G Hoxd13 homeobox D13 ISO ClinVar Annotator: match by term: Brachydactyly type E1 OMIM
ClinVar		 PMID:12414828 PMID:22233338 PMID:25741868 PMID:28492532 NCBI chrNW_004955403:20,568,314...20,575,579
Ensembl chrNW_004955403:20,568,314...20,575,579 		JBrowse link
brachydactyly type E2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pthlh parathyroid hormone like hormone ISO ClinVar Annotator: match by term: Brachydactyly type E2 OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26763883 PMID:29947179 More... NCBI chrNW_004955505:6,834,533...6,846,909
Ensembl chrNW_004955505:6,834,533...6,847,335 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14274
    Developmental Disease 12504
      bone development disease 2207
        dysostosis 581
          brachydactyly 33
            Brachydactyly, Type E 3
              Brachydactyly Type E, with Atrial Septal Defect, Type II 0
              Exostoses with Anetodermia and Brachydactyly Type E 0
              brachydactyly type E1 2
              brachydactyly type E2 1
Path 2
Term Annotations click to browse term
  disease 14274
    disease of anatomical entity 13978
      Skin and Connective Tissue Diseases 6576
        connective tissue disease 5097
          bone disease 3718
            bone development disease 2207
              dysostosis 581
                brachydactyly 33
                  Brachydactyly, Type E 3
                    Brachydactyly Type E, with Atrial Septal Defect, Type II 0
                    Exostoses with Anetodermia and Brachydactyly Type E 0
                    brachydactyly type E1 2
                    brachydactyly type E2 1
paths to the root