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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: BDE;   BDE1;   BRACHYDACTYLY SYNDROME TYPE E;   brachydactyly, type E
 primary_id: OMIM:113300
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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:25741868 PMID:33537682 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brachydactyly type E1		 OMIM
CTD
ClinVar		 PMID:12620993 PMID:12649808 PMID:16314414 PMID:24239177 PMID:25741868 More... NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    physical disorder 4334
      Congenital Foot Deformities 93
        brachydactyly type E1 2
Path 2
Term Annotations click to browse term
  disease 18203
    disease of anatomical entity 17561
      Skin and Connective Tissue Diseases 6843
        connective tissue disease 5170
          bone disease 3847
            bone development disease 1906
              dysostosis 449
                brachydactyly 34
                  Brachydactyly, Type E 3
                    brachydactyly type E1 2
paths to the root