FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

plasminogen deficiency type I

Synonyms
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.

ID

http://purl.obolibrary.org/obo/DOID_0111592

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

plasminogen deficiency type I

prefixIRI

DOID:0111592

prefLabel

plasminogen deficiency type I

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225

Delete Subject Author Type Created
No notes to display