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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


show annotations for term's descendants           Sort by:
Brachydactyly, Type E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC4 histone deacetylase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24715439 NCBI chr 2:239,048,168...239,401,649
NCBI chr 2:239,193,331...239,195,457
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HOXD13 homeobox D13 IAGP DNA:nonsense mutation:exon:p.R274X (c.820C>T) (human)
ClinVar Annotator: match by term: Brachydactyly type E		 ClinVar
RGD		 PMID:12620993 PMID:12649808 PMID:16314414 PMID:22233338 RGD:12743596 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		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 IAGP ClinVar Annotator: match by term: Brachydactyly syndrome type E ClinVar PMID:10958686 PMID:11486037 PMID:25741868 PMID:33537682 NCBI chr 2:239,048,168...239,401,649
NCBI chr 2:239,193,331...239,195,457
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G HOXD13 homeobox D13 IAGP ClinVar Annotator: match by term: Brachydactyly type E1 OMIM
ClinVar		 PMID:8614804 PMID:9207113 PMID:12414828 PMID:15333588 PMID:19075394 More... NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP ClinVar Annotator: match by term: Brachydactyly type E1 ClinVar PMID:25741868 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		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 IAGP ClinVar Annotator: match by term: Brachydactyly type E2 | ClinVar Annotator: match by term: PTHLH-related condition OMIM
ClinVar		 PMID:20170896 PMID:25741868 PMID:25801215 PMID:26640227 PMID:26763883 More... NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 146647
    Developmental Disease 49217
      bone development disease 3452
        dysostosis 933
          brachydactyly 46
            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 146647
    disease of anatomical entity 133718
      Skin and Connective Tissue Diseases 28768
        connective tissue disease 20025
          bone disease 14803
            bone development disease 3452
              dysostosis 933
                brachydactyly 46
                  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