Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the coagulation cascade (HP:0003256)

Parent Node:
Abnormal circulating beta globulin level (HP:0025465)

Parent Node:
Abnormality of the common coagulation pathway (HP:0010990)

..Starting node
..Decreased level of plasminogen (HP:0040228)

Term ID:

40228

Name:

Decreased level of plasminogen

Synonym:

Hypoplasminogenemia

Definition:

A decreased level of Plasminogen

Comments:

Reference:

HP:0040228

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal coagulation factor V activity (HP:0031899)

Abnormality of circulating fibrinogen (HP:0011898)

Decreased level of heparin co-factor II (HP:0040226)

Decreased level of histidine-rich glycoprotein (HP:0040227)

Decreased level of thrombomodulin (HP:0040229)

Decreased level of tissue plasminogen activator (HP:0040230)

Increased plasma vitamin K epoxide after vitamin K supplementation (HP:0040239)

Prolonged Russell's viper venom time (HP:0040244)

Reduced alpha-2-antiplasmin activity (HP:0040245)

Reduced antithrombin antigen (HP:0040246)

Reduced factor X activity (HP:0008321)

Reduced factor XIII activity (HP:0008357)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040228	HP:0040228	Decreased level of plasminogen	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040281 - Very frequent	11
HP:0040228	HP:0040228	Decreased level of plasminogen	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0040228	HP:0040228	Decreased level of plasminogen	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040281 - Very frequent	39

Genes (2) :PLG SERPINE1

Diseases (3) :ORPHA:722 OMIM:217090 ORPHA:465

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.