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| Term | plasminogen deficiency type I | ID (Ontology) | DOID:0111592 (Human Disease) |
| 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. | ||
| Also Known As | "hypoplasminogenemia" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| plasminogen deficiency type I 1 rec. |
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| Is a |
autosomal recessive disease syndrome |
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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 |
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