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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
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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 8 117,011,571 117,325,464 RGD:7240710
RGD:9068941

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Path 1
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  disease 11860
    disease of cellular proliferation 5275
      Hereditary Neoplastic Syndromes 731
        hereditary multiple exostoses 7
          Multiple Exostoses Type I 1
Path 2
Term Annotations click to browse term
  disease 11860
    disease of anatomical entity 11514
      musculoskeletal system disease 3733
        connective tissue disease 2299
          bone disease 1785
            bone development disease 966
              osteochondrodysplasia 401
                Osteochondroma 7
                  Osteochondromatosis 7
                    hereditary multiple exostoses 7
                      Multiple Exostoses Type I 1
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