OBO ID: DOID:0060438
Term Name: Cole-Carpenter syndrome Search Ontology:
Synonyms:
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
References:
Ontology: Human Disease   (DOID:0060438)
OTHER Cole-Carpenter syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
P4HB Cole-Carpenter syndrome 1 112240
SEC24D Cole-Carpenter syndrome 2 616294
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None