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 )
Relationships
is a type of:
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.