Metadata | |
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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 | |
Parent Relationships |
is_a corneal disease |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has location some cornea |