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plasminogen deficiency type I
Summary
- Synonym
-
- hypoplasminogenemia
- Definition
- A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111592
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
