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ONTOLOGY REPORT - ANNOTATIONS


Term:Multiple Exostoses Type II
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Accession:DOID:9003693 term browser browse the term
Definition:Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones. Multiple hereditary exostoses type II (EXT2) is caused by heterozygous mutation in the gene encoding exostosin-2 (EXT2) on chromosome 11p11. (OMIM)
Synonyms:exact_synonym: EXT2;   MULTIPLE EXOSTOSES TYPE 2;   hereditary multiple exostoses 2
 primary_id: OMIM:133701
 alt_id: RDO:0007980
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Multiple Exostoses Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ext2 exostosin glycosyltransferase 2 JBrowse link 3 82,602,784 82,734,557 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of cellular proliferation 5796
      Hereditary Neoplastic Syndromes 765
        hereditary multiple exostoses 7
          Multiple Exostoses Type II 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
                Osteochondroma 7
                  Osteochondromatosis 7
                    hereditary multiple exostoses 7
                      Multiple Exostoses Type II 1
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