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A2ML1
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Costello Syndrome (Disorder)
- Standard Disease Name
- costello syndrome (disorder)
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D056685
- OMIM ID
- 190020|218040
- UMLS ID
- C0587248
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D: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.|MSH2017_2016_08_12:Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).|JABL99:Retarded growth and mental development, coarse facies, nasal papillomata, cutis laxa of the hands and feet, and other abnormalities.