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ONTOLOGY REPORT - ANNOTATIONS


Term:Multiple Exostoses Type I
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Accession:DOID:9003050 term browser browse the term
Definition:Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent. Multiple exostoses type I (EXT1) is caused by heterozygous mutation in the gene encoding exostosin-1 (EXT1) on chromosome 8q24. (OMIM)
Synonyms:exact_synonym: EXT;   EXT1;   hereditary multiple exostoses 1
 primary_id: OMIM:133700
 alt_id: RDO:0007979
For additional species annotation, visit the Alliance of Genome Resources.


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Multiple Exostoses Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext1 exostosin glycosyltransferase 1 JBrowse link 7 92,605,008 92,881,392 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15620
    disease of cellular proliferation 5796
      Hereditary Neoplastic Syndromes 765
        hereditary multiple exostoses 7
          Multiple Exostoses Type I 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                Osteochondroma 7
                  Osteochondromatosis 7
                    hereditary multiple exostoses 7
                      Multiple Exostoses Type I 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.