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| Term | Costello syndrome | ID (Ontology) | DOID:0050469 (Human Disease) |
| Definition | A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. | ||
| Also Known As | "Faciocutaneoskeletal Syndrome" ; "FCS SYNDROME" | ||
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| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ syndrome | |__RASopathy___________________| Costello syndrome 4 rec. |
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Relationships
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| Is a |
autosomal dominant disease RASopathy |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:1550 MESH:D056685 MIM:218040 NCI:C84652 SNOMEDCT_US_2023_03_01:205803001 UMLS_CUI:C0587248 |
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