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 blood and blood-forming tissues (HP:0001871)

Parent Node:
Abnormality of coagulation (HP:0001928)

..Starting node
..Abnormality of fibrinolysis (HP:0040224)

Term ID:

40224

Name:

Abnormality of fibrinolysis

Synonym:

Abnormality of the fibrinolytic system

Definition:

Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)

Comments:

Reference:

HP:0040224

Genes and Diseases:

Child Nodes:

........

Hyperfibrinolysis (HP:0040236)

........

Prolonged euglobulin clot lysis time (HP:0040243)

........

Reduced euglobulin clot lysis time (HP:0040247)

........

Reduced plasminogen activator inhibitor 1 activity (HP:0040248)

........

Reduced plasminogen activator inhibitor 1 antigen (HP:0040249)

Sister Nodes:

Abnormality of the coagulation cascade (HP:0003256)

Hypercoagulability (HP:0100724)

Prolonged partial thromboplastin time (HP:0003645)

Prolonged whole-blood clotting time (HP:0005542)

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:0040224	HP:0040224	Abnormality of fibrinolysis	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency		39
HP:0040224	HP:0040224	Abnormality of fibrinolysis	0	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency		8
HP:0040224	HP:0040224	Abnormality of fibrinolysis	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0040224	HP:0040243	Prolonged euglobulin clot lysis time	1	CL E G H
HP:0040224	HP:0040236	Hyperfibrinolysis	1	CL E G H
HP:0040224	HP:0040249	Reduced plasminogen activator inhibitor 1 antigen	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040281 - Very frequent	39
HP:0040224	HP:0040248	Reduced plasminogen activator inhibitor 1 activity	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040281 - Very frequent	39
HP:0040224	HP:0040247	Reduced euglobulin clot lysis time	1	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency	HP:0040282 - Frequent	8
HP:0040224	HP:0033106	Elevated circulating D-dimer concentration	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9

Genes (3) :SERPINE1 SERPINF2 STAT2

Diseases (3) :ORPHA:465 ORPHA:79 OMIM:618886

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