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
..Prolonged whole-blood clotting time (HP:0005542)

Term ID:

5542

Name:

Prolonged whole-blood clotting time

Synonym:

Prolonged clotting time

Definition:

An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.

Comments:

Reference:

HP:0005542

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of fibrinolysis (HP:0040224)

Abnormality of the coagulation cascade (HP:0003256)

Hypercoagulability (HP:0100724)

Prolonged partial thromboplastin time (HP:0003645)

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:0005542	HP:0005542	Prolonged whole-blood clotting time	0	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency	.	28
HP:0005542	HP:0005542	Prolonged whole-blood clotting time	0	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0005542	HP:0005542	Prolonged whole-blood clotting time	0	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B	.	143
HP:0005542	HP:0005542	Prolonged whole-blood clotting time	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533

Genes (4) :F12 F5 F9 VWF

Diseases (4) :OMIM:234000 OMIM:227400 OMIM:306900 OMIM:193400

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