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
..Hypercoagulability (HP:0100724)

Term ID:

100724

Name:

Hypercoagulability

Synonym:

Blood hyperviscosity; Thrombophilia

Definition:

An abnormality of coagulation associated with an increased risk of thrombosis.

Comments:

Reference:

HP:0100724

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of fibrinolysis (HP:0040224)

Abnormality of the coagulation cascade (HP:0003256)

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:0100724	HP:0100724	Hypercoagulability	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional	1
HP:0100724	HP:0100724	Hypercoagulability	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	150
HP:0100724	HP:0100724	Hypercoagulability	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040282 - Frequent	89
HP:0100724	HP:0100724	Hypercoagulability	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	51
HP:0100724	HP:0100724	Hypercoagulability	0	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.	159
HP:0100724	HP:0100724	Hypercoagulability	0	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0100724	HP:0100724	Hypercoagulability	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent	137
HP:0100724	HP:0100724	Hypercoagulability	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent	580
HP:0100724	HP:0100724	Hypercoagulability	0	HRG CL E G H	3273	5181	OMIM:613116	Thrombophilia due to histidine-rich glycoprotein deficiency	.	4
HP:0100724	HP:0100724	Hypercoagulability	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040282 - Frequent	9
HP:0100724	HP:0100724	Hypercoagulability	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0100724	HP:0100724	Hypercoagulability	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0100724	HP:0100724	Hypercoagulability	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0100724	HP:0100724	Hypercoagulability	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0100724	HP:0100724	Hypercoagulability	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	109
HP:0100724	HP:0100724	Hypercoagulability	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	228
HP:0100724	HP:0100724	Hypercoagulability	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	156
HP:0100724	HP:0100724	Hypercoagulability	0	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect	.	60

Genes (16) :AGGF1 ANK1 DLD EPB42 F5 F9 GATA2 HBB HRG MYD88 PROC PROS1 SLC4A1 SPTA1 SPTB THBD

Diseases (14) :ORPHA:90308 ORPHA:822 ORPHA:2394 OMIM:188055 OMIM:300807 ORPHA:3226 ORPHA:231222 OMIM:613116 ORPHA:33226 OMIM:612304 OMIM:176860 OMIM:614514 OMIM:612336 OMIM:614486

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

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