Search Ontology:
Human Disease

ocular pterygium-digital keloid dysplasia syndrome

Term ID
DOID:0070821
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. (3)
References
Ontology
Human Disease   ( DOID:0070821 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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