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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
 primary_id: OMIM:113300
 alt_id: RDO:0007896
For additional species annotation, visit the Alliance of Genome Resources.


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brachydactyly type E1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by OMIM:113300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brachydactyly type E1		 OMIM
ClinVar
CTD		 PMID:12620993 PMID:12649808 PMID:16314414 PMID:24239177 PMID:25741868 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 17256
    physical disorder 3094
      Congenital Foot Deformities 68
        brachydactyly type E1 1
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      Skin and Connective Tissue Diseases 5844
        connective tissue disease 4433
          bone disease 3116
            bone development disease 1424
              dysostosis 394
                brachydactyly 31
                  Brachydactyly, Type E 3
                    brachydactyly type E1 1
paths to the root