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Metadata
ID DOID:14775
Name brittle cornea syndrome 1
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.
https://pubmed.ncbi.nlm.nih.gov/28306229/
Xrefs

GARD:1019

MESH:C536198

NCI:C125700

OMIM:229200

SNOMEDCT_US_2020_09_01:25606004

UMLS_CUI:C0268342

Subsets

NCIthesaurus

Synonyms

type VIB Ehlers-Danlos syndrome [EXACT]

Parent Relationships

is_a Ehlers-Danlos syndrome

is_a corneal disease

is_a autosomal recessive disease

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