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Metadata
ID DOID:0080729
Name brittle cornea syndrome 2
Definition An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27.
https://pubmed.ncbi.nlm.nih.gov/28306229/
Xrefs

MIM:614170

Parent Relationships

is_a corneal disease

is_a Ehlers-Danlos syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

disease has location some cornea

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