| Metadata | |
|---|---|
| ID | DOID:0050469 |
| Name | Costello syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/907573, https://www.ncbi.nlm.nih.gov/pubmed/17250658 |
| Xrefs |
SNOMEDCT_US_2023_03_01:205803001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Faciocutaneoskeletal Syndrome [EXACT] FCS SYNDROME [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a RASopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |