Preferred Label : Costello Syndrome;
NCIt 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.;
Alternative definition : NICHD: 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.;
Origin ID : C84652;
UMLS CUI : C0587248;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Semantic type(s)
UMLS correspondences (same concept)
concept_is_in_subset
disease_has_finding
disease_mapped_to_gene
disease_may_have_associated_disease
pathogenesis_of_disease_involves_gene
related_to_genetic_biomarker