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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 IAGP DNA:deletion:exon:p.A53_A59del (c.157_177del) (human) RGD PMID:17236141 RGD:12738470 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      bone development disease 3275
        dysostosis 857
          brachydactyly 44
            brachydactyly type A4 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Skin and Connective Tissue Diseases 9687
        connective tissue disease 7446
          bone disease 5601
            bone development disease 3275
              dysostosis 857
                brachydactyly 44
                  brachydactyly type A4 1
paths to the root