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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Hereditary Neoplastic Syndromes 815
        hereditary multiple exostoses 9
          Multiple Exostoses Type II 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                Osteochondroma 9
                  Osteochondromatosis 9
                    hereditary multiple exostoses 9
                      Multiple Exostoses Type II 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.