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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_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074 		JBrowse link
G Hoxd13 homeobox D13 ISO ClinVar Annotator: match by term: Brachydactyly type E ClinVar PMID:12620993 PMID:12649808 PMID:16314414 NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651 		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_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074 		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_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Brachydactyly type E1 ClinVar PMID:25741868 NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213 		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_004936760:197,525...209,212
Ensembl chrNW_004936760:197,525...209,518 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14573
    Developmental Disease 12732
      bone development disease 2240
        dysostosis 589
          brachydactyly 35
            Brachydactyly, Type E 4
              Brachydactyly Type E, with Atrial Septal Defect, Type II 0
              Exostoses with Anetodermia and Brachydactyly Type E 0
              brachydactyly type E1 3
              brachydactyly type E2 1
Path 2
Term Annotations click to browse term
  disease 14573
    disease of anatomical entity 14277
      Skin and Connective Tissue Diseases 6700
        connective tissue disease 5188
          bone disease 3797
            bone development disease 2240
              dysostosis 589
                brachydactyly 35
                  Brachydactyly, Type E 4
                    Brachydactyly Type E, with Atrial Septal Defect, Type II 0
                    Exostoses with Anetodermia and Brachydactyly Type E 0
                    brachydactyly type E1 3
                    brachydactyly type E2 1
paths to the root