Name
Cole-Carpenter Syndrome 1
Synonmys
BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES
Classification
bone,
developmental,
eye,
genetic
Associated Genes
P4HB
(Withdrawn symbols:
DSI,
ERBA2L,
GIT,
P4Hbeta,
PDI,
PDIA1,
PO4DB,
PO4HB,
PROHB
)
Mouse Orthologs
P4hb
(Withdrawn symbols:
Thbp
)
Source
OMIM:112240 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)