loading...| Preferred Name |
Costello syndrome |
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| Synonyms |
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| 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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| ID |
http://purl.bioontology.org/ontology/PDQ/CDR0000725038 |
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| Associated disease | ||
| cui |
C0587248 |
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| DATE FIRST PUBLISHED |
2012-02-07 |
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| Date last modified |
2012-03-07 |
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| 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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| NCI ID |
C84652 |
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| notation |
CDR0000725038 |
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| ORIG STY |
Genetic condition |
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| prefLabel |
Costello syndrome |
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| tui |
T047 |
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| subClassOf |