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ONTOLOGY REPORT - ANNOTATIONS


Term:brachydactyly type E2
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Accession:DOID:0110976 term browser browse the term
Definition:A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. (DO)
Synonyms:exact_synonym: BDE2
 primary_id: OMIM:613382
 alt_id: RDO:0009828
For additional species annotation, visit the Alliance of Genome Resources.


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brachydactyly type E2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Pathological Conditions, Signs and Symptoms 8013
      Pathologic Processes 5074
        Growth Disorders 246
          brachydactyly type E2 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      Skin and Connective Tissue Diseases 4196
        connective tissue disease 2761
          bone disease 2210
            bone development disease 980
              dysostosis 303
                brachydactyly 29
                  Brachydactyly, Type E 3
                    brachydactyly type E2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.