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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 E1
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Accession:DOID:0110972 term browser browse the term
Definition:A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: BDE1;   BRACHYDACTYLY SYNDROME TYPE E
 primary_id: MIM:113300


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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 chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301 		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 chr15:81,893,997...81,897,965
Ensembl chr15:81,893,972...81,896,944 		JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Brachydactyly type E1 ClinVar PMID:25741868 NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,326...29,775,348 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15399
    physical disorder 5054
      Congenital Foot Deformities 188
        brachydactyly type E1 3
Path 2
Term Annotations click to browse term
  disease 15399
    disease of anatomical entity 15091
      Skin and Connective Tissue Diseases 7098
        connective tissue disease 5426
          bone disease 3926
            bone development disease 2319
              dysostosis 613
                brachydactyly 35
                  Brachydactyly, Type E 4
                    brachydactyly type E1 3
paths to the root