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DOID:0111592 - plasminogen deficiency type I
Disease Ontology 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.
Synonyms: hypoplasminogenemia,
Echinobase Genes
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| MIM:217090 - plasminogen deficiency, type i ligneous conjunctivitis, included;; dysplasminogenemia, included |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)