| Metadata | |
|---|---|
| ID | DOID:0060438 |
| Name | Cole-Carpenter syndrome |
| Definition | An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. https://www.ncbi.nlm.nih.gov/pubmed/10842295 |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some ptosis |