Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

PLASMINOGEN DEFICIENCY, TYPE I

Synonyms

DYSPLASMINOGENEMIA

ID

http://purl.bioontology.org/ontology/OMIM/217090

altLabel

DYSPLASMINOGENEMIA

LIGNEOUS CONJUNCTIVITIS

PLASMINOGEN DEFICIENCY, TYPE II

cui

C1968804

C4225445

C1274789

Gene Locus

6q26

Gene Symbol

PLG

HAE4

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000269

http://purl.bioontology.org/ontology/OMIM/MTHU023549

http://purl.bioontology.org/ontology/OMIM/MTHU023548

http://purl.bioontology.org/ontology/OMIM/MTHU023539

http://purl.bioontology.org/ontology/OMIM/MTHU003988

http://purl.bioontology.org/ontology/OMIM/MTHU023544

http://purl.bioontology.org/ontology/OMIM/MTHU008708

http://purl.bioontology.org/ontology/OMIM/MTHU023543

http://purl.bioontology.org/ontology/OMIM/MTHU001370

http://purl.bioontology.org/ontology/OMIM/MTHU023547

http://purl.bioontology.org/ontology/OMIM/MTHU067562

http://purl.bioontology.org/ontology/OMIM/MTHU036759

http://purl.bioontology.org/ontology/OMIM/MTHU023531

http://purl.bioontology.org/ontology/OMIM/MTHU023540

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU006278

http://purl.bioontology.org/ontology/OMIM/MTHU023537

http://purl.bioontology.org/ontology/OMIM/MTHU067561

http://purl.bioontology.org/ontology/OMIM/MTHU023538

http://purl.bioontology.org/ontology/OMIM/MTHU009733

http://purl.bioontology.org/ontology/OMIM/MTHU023530

http://purl.bioontology.org/ontology/OMIM/MTHU023529

http://purl.bioontology.org/ontology/OMIM/MTHU002513

http://purl.bioontology.org/ontology/OMIM/MTHU023534

http://purl.bioontology.org/ontology/OMIM/MTHU017783

http://purl.bioontology.org/ontology/OMIM/MTHU004047

http://purl.bioontology.org/ontology/OMIM/MTHU023541

http://purl.bioontology.org/ontology/OMIM/MTHU023532

http://purl.bioontology.org/ontology/OMIM/MTHU023542

http://purl.bioontology.org/ontology/OMIM/MTHU023525

http://purl.bioontology.org/ontology/OMIM/MTHU023546

http://purl.bioontology.org/ontology/OMIM/MTHU023533

http://purl.bioontology.org/ontology/OMIM/MTHU023545

http://purl.bioontology.org/ontology/OMIM/MTHU023524

http://purl.bioontology.org/ontology/OMIM/MTHU023535

http://purl.bioontology.org/ontology/OMIM/MTHU023536

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

217090

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

PLASMINOGEN DEFICIENCY, TYPE I

Scope Statement

Onset usually in infancy or early childhood [MISCELLANEOUS]

Increased prevalence in individuals of Turkish descent [MISCELLANEOUS]

Estimated prevalence of 1.6 in 1,000,000 individuals in the U.K. [MISCELLANEOUS]

Pseudomembrane formation triggered by injury, infection, irritation, surgery [MISCELLANEOUS]

Slightly increased female:male ratio (1.4:1 to 2:1) [MISCELLANEOUS]

Adult onset of symptoms has been reported [MISCELLANEOUS]

Caused by mutation in the plasminogen gene (PLG, 173350.0001) [MOLECULAR BASIS]

tui

T047

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