Costello Syndrome
Disease ID: disease_node_12240
Connections displayed (default: 10).
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| Dbxref | GARD:1550, MESH:D056685, MIM:218040, NCI:C84652, SNOMEDCT_US_2023_03_01:205803001, UMLS_CUI:C0587248 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080690 |
| Data Source | DOID, MESH |
| Synonyms | FCS SYNDROME, Faciocutaneoskeletal Syndrome |
| Mesh Id | D056685 |
| Mesh Label | Costello Syndrome |
| Mesh Subclassof | D030342, D000015, D019465 |
| Doid Label | Costello syndrome |
| Doid Description | A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_12240 |
| Doid Id | DOID_0050469 |
| Label | Costello Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Rasopathy(ID:disease_node_19055) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)