Physician Data Query

Last uploaded: August 27, 2019
Id http://purl.bioontology.org/ontology/PDQ/CDR0000725038
http://purl.bioontology.org/ontology/PDQ/CDR0000725038
Preferred Name

Costello syndrome

Definitions
A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C84652" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C84652" NCI Thesaurus)
Type http://www.w3.org/2002/07/owl#Class
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