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Physician Data Query
Last uploaded:
August 27, 2019
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| Id | http://purl.bioontology.org/ontology/PDQ/CDR0000725038
http://purl.bioontology.org/ontology/PDQ/CDR0000725038
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|---|---|
| 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)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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) |
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| prefLabel | Costello syndrome
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| notation | CDR0000725038
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| ORIG STY | Genetic condition
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| Date last modified | 2012-03-07
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| subClassOf | |
| Semantic type UMLS property | |
| NCI ID | C84652
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| type | |
| Associated disease | |
| tui | T047
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| DATE FIRST PUBLISHED | 2012-02-07
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| cui | C0587248
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