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ONTOLOGY REPORT - ANNOTATIONS


Term:brachydactyly type A1
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Accession:DOID:0110964 term browser browse the term
Definition:A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. (DO)
Synonyms:exact_synonym: BDA1;   Farabee-Type Brachydactyly
 primary_id: MESH:C537088
 alt_id: OMIM:112500;   RDO:0002862
 xref: GARD:978;   ORDO:93388
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
brachydactyly type A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:12437076
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:1600032
RGD:12910974
RGD:11535949
RGD:12910970
RGD:12910965
RGD:12910964
RGD:12910945
RGD:12910944
RGD:8554872
RGD:7240710
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12798572
RGD:13592920
brachydactyly type A1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
brachydactyly type A1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        dysostosis 303
          brachydactyly 29
            brachydactyly type A1 4
              brachydactyly type A1B 0
              brachydactyly type A1C 1
              brachydactyly type A1D 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              dysostosis 303
                brachydactyly 29
                  brachydactyly type A1 4
                    brachydactyly type A1B 0
                    brachydactyly type A1C 1
                    brachydactyly type A1D 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.