Jump to:
loading...| Preferred Name |
Costello Syndrome [Disease/Finding] |
|
| Synonyms |
Faciocutaneoskeletal Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181164 |
|
| altLabel |
Faciocutaneoskeletal Syndrome FCS Syndrome Costello Syndrome |
|
| cui |
C0587248 |
|
| MESH DEFINITION |
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). |
|
| MESH DUI |
D056685 |
|
| MeSH name |
Costello Syndrome |
|
| MESH UI |
M0528444 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000181164 |
|
| NUI |
N0000181164 |
|
| prefLabel |
Costello Syndrome [Disease/Finding] |
|
| tui |
T047 |
|
| subClassOf |
Create mapping