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Brittle Cornea Syndrome 2

Disease ID: disease_node_18768

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Dbxref	MIM:614170
Subclassof	DOID_10124, DOID_0050737, DOID_13359
Data Source	DOID
Disease Has Location	UBERON_0000964
Doid Label	brittle cornea syndrome 2
Doid Description	An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27.
Has Material Basis In	GENO_0000148
Disease Node Id	disease_node_18768
Doid Id	DOID_0080729
Label	Brittle Cornea Syndrome 2

Outgoing r'ship SUBCLASS_OF to/from Corneal Diseases(ID:disease_node_2256) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Ehlers-Danlos Syndrome(ID:disease_node_2744) (Disease)

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