ONTOLOGY REPORT - ANNOTATIONS


Term:brachydactyly type A2
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Accession:DOID:0110965 term browser browse the term
Definition:A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. (DO)
Synonyms:exact_synonym: BDA2;   Brachymesophalangy 2;   Brachymesophalangy Ii;   Mohr-Wriedt type brachydactyly
 primary_id: MESH:C537089
 alt_id: OMIM:112600;   RDO:0002863
 xref: GARD:979;   ORDO:93396
For additional species annotation, visit the Alliance of Genome Resources.


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brachydactyly type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp2 bone morphogenetic protein 2 JBrowse link 3 126,335,963 126,346,771 RGD:7240710
RGD:8554872
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:7240710
RGD:8554872
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      bone development disease 896
        dysostosis 233
          brachydactyly 29
            brachydactyly type A2 3
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      musculoskeletal system disease 4002
        connective tissue disease 2587
          bone disease 2126
            bone development disease 896
              dysostosis 233
                brachydactyly 29
                  brachydactyly type A2 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.