Name
Brittle Cornea Syndrome 1
Synonmys
CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY ,
DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE ,
EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY; EDS6B, FORMERLY ,
FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY
Classification
developmental,
eye,
genetic,
skin,
systemic and rheumatological
Associated Genes
ZNF469
(Withdrawn symbols:
KIAA1858,
Zfp469
)
Mouse Orthologs
Zfp469
(Withdrawn symbols:
Gm22
)
Source
OMIM:229200 (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)