Online Mendelian Inheritance in Man - BRITTLE CORNEA SYNDROME 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/229200 http://purl.bioontology.org/ontology/OMIM/229200
Preferred Name	BRITTLE CORNEA SYNDROME 1
Synonyms	FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY EDS6B, FORMERLY EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY BCS1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY EDS6B, FORMERLY EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY BCS1 See more See less
prefLabel	BRITTLE CORNEA SYNDROME 1
Gene Symbol	BCS1 ZNF469 KIAA1858
Scope Statement	Caused by mutation in the zinc finger protein 469 gene (ZNF469, 612078.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU012981 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU032019 http://purl.bioontology.org/ontology/OMIM/MTHU012982 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU036699 http://purl.bioontology.org/ontology/OMIM/MTHU001148 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU001429 http://purl.bioontology.org/ontology/OMIM/MTHU009825 http://purl.bioontology.org/ontology/OMIM/MTHU007725 http://purl.bioontology.org/ontology/OMIM/MTHU012984 http://purl.bioontology.org/ontology/OMIM/MTHU012983 http://purl.bioontology.org/ontology/OMIM/MTHU036426 http://purl.bioontology.org/ontology/OMIM/MTHU001468 http://purl.bioontology.org/ontology/OMIM/MTHU036675 http://purl.bioontology.org/ontology/OMIM/MTHU007296 http://purl.bioontology.org/ontology/OMIM/MTHU012985 http://purl.bioontology.org/ontology/OMIM/MTHU010020 http://purl.bioontology.org/ontology/OMIM/MTHU012986 http://purl.bioontology.org/ontology/OMIM/MTHU000094 See more See less
tui	T047
Gene Locus	16q24
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	229200
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0268344
Moved from	224200
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display