ZFIN Human Disease: plasminogen deficiency type I

OBO ID: DOID:0111592

Term Name:	plasminogen deficiency type I		Search Ontology:
Synonyms:	hypoplasminogenemia
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. (4)
References:	GARD:4380 ICD10CM:E88.02 MESH:C566897 MESH:C580017 OMIM:217090 ORDO:722 SNOMEDCT_US_2023_03_01:95840007 SNOMEDCT_US_2023_03_01:95844003 UMLS_CUI:C0398621 UMLS_CUI:C1968804
Ontology:	Human Disease ( DOID:0111592 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER plasminogen deficiency type I PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PLG	plg	Plasminogen deficiency, type I	217090
		Dysplasminogenemia	217090

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None