Physician Data Query

Last uploaded: August 27, 2019
Id http://purl.bioontology.org/ontology/PDQ/CDR0000725379
http://purl.bioontology.org/ontology/PDQ/CDR0000725379
Preferred Name

hereditary multiple exostoses

Definitions
Hereditary disorder transmitted by autosomal dominant genes (EXT1-3) and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C5183" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C5183" NCI Thesaurus)
Synonyms
exostosis, hereditary multiple
Type http://www.w3.org/2002/07/owl#Class
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