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Disease Ontology Browser
ocular pterygium-digital keloid dysplasia syndrome (DOID:0070821)
Alliance: disease page
Synonyms: OPDKD
Alt IDs: OMIM:621091, UMLS_CUI:C5975613
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
09/01/2026
MGI 6.24 		The Jackson Laboratory