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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;   hereditary multiple exostoses 2;   multiple exostoses type 2
 primary_id: OMIM:133701
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 17205
    syndrome 8125
      Hereditary Neoplastic Syndromes 912
        hereditary multiple exostoses 9
          Multiple Exostoses Type II 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              osteochondrodysplasia 478
                Osteochondroma 9
                  Osteochondromatosis 9
                    hereditary multiple exostoses 9
                      Multiple Exostoses Type II 1
paths to the root