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Term:Miura type epiphyseal chondrodysplasia
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Accession:DOID:0070316 term browser browse the term
Definition:A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. (DO)
Synonyms:exact_synonym: ECDM;   Miura type of epiphyseal chondrodysplasia;   tall stature-scoliosis-macrodactyly of the great toes syndrome;   tall stature-scoliosis-macrodactyly of the halluces syndrome
 primary_id: OMIM:615923
 alt_id: RDO:9001457
 xref: ORDO:329191
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Miura type epiphyseal chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        Miura type epiphyseal chondrodysplasia 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
              osteochondrodysplasia 408
                Miura type epiphyseal chondrodysplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.