Human Phenotype Ontology

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:0011890	HP:0011890	Prolonged bleeding following procedure	0	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1		118
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency		33
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency		132
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040283 - Occasional	44
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency		70
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040282 - Frequent	303
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A		303
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A		303
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant		23
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia		69
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia		80
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III		1
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency		39
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0011890	HP:0011890	Prolonged bleeding following procedure	0	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3		533
HP:0011890	HP:0011891	Post-partum hemorrhage	1	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1		118
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040281 - Very frequent	33
HP:0011890	HP:0011891	Post-partum hemorrhage	1	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040283 - Occasional	33
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040281 - Very frequent	33
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency	HP:0040281 - Very frequent	132
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	60
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	60
HP:0011890	HP:0011891	Post-partum hemorrhage	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	60
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	60
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	32
HP:0011890	HP:0011891	Post-partum hemorrhage	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	32
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	32
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	32
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency	.	32
HP:0011890	HP:0011891	Post-partum hemorrhage	1	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040283 - Occasional	44
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040283 - Occasional	44
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040283 - Occasional	44
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0011890	HP:0011891	Post-partum hemorrhage	1	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0011890	HP:0011891	Post-partum hemorrhage	1	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency	HP:0040283 - Occasional	70
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency	HP:0040282 - Frequent	70
HP:0011890	HP:0011891	Post-partum hemorrhage	1	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040282 - Frequent	303
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040282 - Frequent	303
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040282 - Frequent	303
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040283 - Occasional	303
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040283 - Occasional	303
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040282 - Frequent	303
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional	303
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	23
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	23
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.	23
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	8
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	8
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	21
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent	21
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0011890	HP:0011891	Post-partum hemorrhage	1	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040282 - Frequent	69
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040282 - Frequent	69
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040282 - Frequent	80
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040282 - Frequent	80
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0011890	HP:0011891	Post-partum hemorrhage	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional	1
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040282 - Frequent	56
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040282 - Frequent	56
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040283 - Occasional	56
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040282 - Frequent	77
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040283 - Occasional	77
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040282 - Frequent	77
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0011890	HP:0011891	Post-partum hemorrhage	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional
HP:0011890	HP:0030137	Prolonged bleeding following circumcision	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040281 - Very frequent	39
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040283 - Occasional	39
HP:0011890	HP:0011891	Post-partum hemorrhage	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040283 - Occasional	39
HP:0011890	HP:0006298	Prolonged bleeding after dental extraction	1	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0011890	HP:0004846	Prolonged bleeding after surgery	1	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.	533