plasminogen deficiency type I

Term ID

DOID:0111592

Synonyms

• 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. (4)

References

• GARD:4380
• ICD10CM:E88.02
• MESH:C566897
• MESH:C580017
• MIM:217090
• ORDO:722
• SNOMEDCT_US_2023_03_01:95840007
• SNOMEDCT_US_2023_03_01:95844003
• UMLS_CUI:C0398621
• UMLS_CUI:C1968804

Ontology

Human Disease   ( DOID:0111592 )