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| Term | brittle cornea syndrome 1 | ID (Ontology) | DOID:14775 (Human Disease) |
| Definition | An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. | ||
| Also Known As | "type VIB Ehlers-Danlos syndrome" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ eye disease | |__corneal disease______________| collagen disease | |__Ehlers-Danlos syndrome_______| brittle cornea syndrome 1 |
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| Is a |
autosomal recessive disease corneal disease Ehlers-Danlos syndrome |
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External Crossreferences & Linkouts
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GARD:1019 MESH:C536198 MIM:229200 NCI:C125700 SNOMEDCT_US_2023_03_01:25606004 UMLS_CUI:C0268342 |
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