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ONTOLOGY REPORT - ANNOTATIONS


Term:brachydactyly type B2
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Accession:DOID:0110975 term browser browse the term
Definition:A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. (DO)
Synonyms:exact_synonym: BDB2
 primary_id: OMIM:611377
 alt_id: RDO:0009521
 xref: ORDO:140908
For additional species annotation, visit the Alliance of Genome Resources.


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brachydactyly type B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:7240710
RGD:8554872
RGD:12801481
RGD:12801483

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          brachydactyly type B2 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      musculoskeletal system disease 3975
        connective tissue disease 2572
          bone disease 2114
            bone development disease 892
              dysostosis 233
                brachydactyly 29
                  brachydactyly type B2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.