FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Cole-Carpenter syndrome ID (Ontology) DOID:0060438 (Human Disease)
Definition An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
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 Genes
 Cole-Carpenter syndrome       2
 for disease ribbon | Cole-Carpenter syndrome       2
 model of | Cole-Carpenter syndrome       2
Spanning Tree (Parents/Children)
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  osteochondrodysplasia
   |__osteogenesis imperfecta
       |__Cole-Carpenter syndrome  2 rec.
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Is a osteogenesis imperfecta
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Synonyms
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MESH:C535963
MIM:112240
MIM:616294
NCI:C130985
ORDO:2050