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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 A4
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Accession:DOID:0110967 term browser browse the term
Definition:A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. (DO)
Synonyms:exact_synonym: BDA4;   brachymesophalangy 2 and 5;   brachymesophalangy II and V;   temtamy type brachydactyly
 primary_id: MESH:C537097
 alt_id: OMIM:112800;   RDO:0002871
 xref: GARD:990;   ORDO:93394


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brachydactyly type A4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd13 homeobox D13 ISO DNA:deletion:exon:p.A53_A59del (c.157_177del) (human) RGD PMID:17236141 RGD:12738470 NCBI chr 2:74,498,569...74,501,947
Ensembl chr 2:74,498,654...74,501,943 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      bone development disease 2297
        dysostosis 578
          brachydactyly 33
            brachydactyly type A4 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Skin and Connective Tissue Diseases 6944
        connective tissue disease 5393
          bone disease 3899
            bone development disease 2297
              dysostosis 578
                brachydactyly 33
                  brachydactyly type A4 1
paths to the root