| Metadata | |
|---|---|
| ID | DOID:0111592 |
| Name | plasminogen deficiency type I |
| 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. https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/12850227, https://www.ncbi.nlm.nih.gov/pubmed/16849641, https://www.ncbi.nlm.nih.gov/pubmed/9242524 |
| Xrefs |
SNOMEDCT_US_2023_03_01:95840007 SNOMEDCT_US_2023_03_01:95844003 |
| Subsets |
DO_rare_slim |
| Synonyms |
hypoplasminogenemia [EXACT] |
| Parent Relationships |
is_a syndrome |