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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| 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
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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
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|
|---|---|
| prefLabel | BRITTLE CORNEA SYNDROME 1
|
| Gene Symbol |
BCS1
ZNF469
KIAA1858
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| notation | 229200
|
| Scope Statement | Caused by mutation in the zinc finger protein 469 gene (ZNF469, 612078.0001) [MOLECULAR BASIS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| Moved from | 224200
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 16q24
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| tui | T047
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| cui | C0268344
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