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Multiple Exostoses Type I - Ontology Report - Rat Genome Database

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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 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: MIM:133700

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show annotations for term's descendants           Sort by:
Multiple Exostoses Type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:84,375,784...84,655,357 		JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:79,665,415...79,798,059 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      Hereditary Neoplastic Syndromes 1531
        hereditary multiple exostoses 33
          Multiple Exostoses Type I 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      musculoskeletal system disease 8461
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              osteochondrodysplasia 882
                Osteochondroma 34
                  Osteochondromatosis 33
                    hereditary multiple exostoses 33
                      Multiple Exostoses Type I 2
paths to the root