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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

GARD:4380

ICD10CM:E88.02

MESH:C566897

MESH:C580017

OMIM:217090

ORDO:722

SNOMEDCT_US_2023_03_01:95840007

SNOMEDCT_US_2023_03_01:95844003

UMLS_CUI:C0398621

UMLS_CUI:C1968804

Subsets

DO_rare_slim

Synonyms

hypoplasminogenemia [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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