Term Name: ocular pterygium-digital keloid dysplasia syndrome
Synonyms: OPDKD
Definition: A syndrome characterized by aggressive circumferential ingrowth of conjunctiva beginning in early childhood that is resistant to treatment, ultimately covering the cornea and resulting in loss of vision, and digital keloid formation after minor trauma that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32.
Ontology: Human Disease [DOID:0070821]   ( DOID:0070821 )

Relationships
is a type of: autosomal dominant disease syndrome