loading...| Preferred Name |
plasminogen deficiency type I |
|
| Synonyms |
hypoplasminogenemia |
|
| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111592 |
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| database_cross_reference |
UMLS_CUI:C1968804 ICD10CM:E88.02 OMIM:217090 UMLS_CUI:C0398621 SNOMEDCT_US_2023_03_01:95840007 MESH:C580017 SNOMEDCT_US_2023_03_01:95844003 MESH:C566897 GARD:4380 ORDO:722 |
|
| has exact synonym |
hypoplasminogenemia |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111592 |
|
| in_subset | ||
| label |
plasminogen deficiency type I |
|
| notation |
DOID:0111592 |
|
| prefLabel |
plasminogen deficiency type I |
|
| textual 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. |
|
| subClassOf |