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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

MESH:C535963

NCI:C130985

OMIM:112240

OMIM:616294

ORDO:2050

UMLS_CUI:C1862178

Subsets

DO_rare_slim

NCIthesaurus

Parent Relationships

is_a osteogenesis imperfecta

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