plasminogen deficiency type I - Ontology Report

ONTOLOGY REPORT - ANNOTATIONS

Term:	plasminogen deficiency type I	go back to main search page
Accession:	DOID:0111592	browse the term
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. (DO)
Synonyms:	exact_synonym:	plasminogen deficiency, type 1
	narrow_synonym:	DYSPLASMINOGENEMIA; LIGNEOUS CONJUNCTIVITIS; Ligneous membranitis; plasminogen deficiency, type II
	primary_id:	MESH:C566897
	alt_id:	OMIA:002020; OMIM:217090
	xref:	GARD:4380; ORDO:722
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Genes (1)

plasminogen deficiency type I

Symbol

Object Name

JBrowse

Chr

Start

Stop

Reference

Plg

plasminogen

48,521,828

48,563,895

Term paths to the root

Path 1
Term	Annotations
disease	15609
syndrome	5791
plasminogen deficiency type I	1
Path 2
Term	Annotations
disease	15609
Developmental Diseases	8986
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	7802
genetic disease	7293
monogenic disease	4988
autosomal genetic disease	3968
autosomal recessive disease	2189
plasminogen deficiency type I	1

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.

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