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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_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. |
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| code |
C84652 |
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| Contributing_Source |
Cellosaurus CCPS NICHD PCDC |
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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. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C186341 http://purl.obolibrary.org/obo/NCIT_C177516 http://purl.obolibrary.org/obo/NCIT_C118467 http://purl.obolibrary.org/obo/NCIT_C177281 |
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| label |
Costello Syndrome |
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| Preferred_Name |
Costello Syndrome |
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| prefixIRI |
NCIT:C84652 |
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| prefLabel |
Costello Syndrome |
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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 |