loading...| Preferred Name |
Costello Syndrome |
|
| Synonyms |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84652 |
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| ALT_DEFINITION |
An autosomal dominant syndrome caused by mutations in the HRAS gene, encoding GTPase HRas, a signaling molecule involved in control of cell growth and division. The condition is characterized by coarse facial features, loose skin folds, developmental delays, hypotonia, multiple cardiac problems (structural heart anomalies, hypertrophic cardiomyopathy), short stature, hyperinsulinism, and an increased risk for development of neoplasia. |
|
| code |
C84652 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186315 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
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| Contributing_Source |
Cellosaurus CCPS NICHD PCDC |
|
| 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. |
|
| FULL_SYN |
Costello Syndrome |
|
| label |
Costello Syndrome |
|
| Preferred_Name |
Costello Syndrome |
|
| prefixIRI |
Thesaurus:C84652 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0587248 |
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| subClassOf |