Preferred Name |
Plasminogen deficiency |
|
Synonyms |
PLGD |
|
Definitions |
(PLGD) - A disorder characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished - type 1 deficiency is additionally characterized by decreased plasminogen antigen levels and clinical symptoms, whereas type 2 deficiency, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Plasminogen deficiency type 1 results in markedly impaired extracellular fibrinolysis and chronic mucosal pseudomembranous lesions due to subepithelial fibrin deposition and inflammation. The most common clinical manifestation of type 1 deficiency is ligneous conjunctivitis in which pseudomembranes formation on the palpebral surfaces of the eye progresses to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. |
|
ID |
http://identifiers.org/omim/217090 |
|
altLabel |
PLGD |
|
definition |
(PLGD) - A disorder characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished - type 1 deficiency is additionally characterized by decreased plasminogen antigen levels and clinical symptoms, whereas type 2 deficiency, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Plasminogen deficiency type 1 results in markedly impaired extracellular fibrinolysis and chronic mucosal pseudomembranous lesions due to subepithelial fibrin deposition and inflammation. The most common clinical manifestation of type 1 deficiency is ligneous conjunctivitis in which pseudomembranes formation on the palpebral surfaces of the eye progresses to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. |
|
id |
OMIM:217090 |
|
notation |
OMIM:217090 |
|
prefLabel |
Plasminogen deficiency |
|
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://identifiers.org/omim/217090 | GEXO | SAME_URI | |
http://identifiers.org/omim/217090 | RETO | SAME_URI | |
http://purl.obolibrary.org/obo/OMIM_217090 | CCO | LOOM | |
http://purl.bioontology.org/ontology/RCD/X20Eh | RCD | LOOM | |
http://identifiers.org/omim/217090 | GEXO | LOOM | |
http://identifiers.org/omim/217090 | RETO | LOOM | |
http://sbmi.uth.tmc.edu/ontology/ochv#C0398621 | OCHV | LOOM | |
http://purl.bioontology.org/ontology/ICD10CM/E88.02 | ICD10CM | LOOM |