Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000421	HP:0000421	Epistaxis	0	ACTN1 CL E G H	87	163	OMIM:615193	BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15			9
HP:0000421	HP:0000421	Epistaxis	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent		178
HP:0000421	HP:0000421	Epistaxis	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0000421	HP:0000421	Epistaxis	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0000421	HP:0000421	Epistaxis	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		101
HP:0000421	HP:0000421	Epistaxis	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000421	HP:0000421	Epistaxis	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000421	HP:0000421	Epistaxis	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040283 - Occasional		51
HP:0000421	HP:0000421	Epistaxis	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000421	HP:0000421	Epistaxis	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain			3
HP:0000421	HP:0000421	Epistaxis	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040283 - Occasional		44
HP:0000421	HP:0000421	Epistaxis	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		10
HP:0000421	HP:0000421	Epistaxis	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional		112
HP:0000421	HP:0000421	Epistaxis	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional		73
HP:0000421	HP:0000421	Epistaxis	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.		46
HP:0000421	HP:0000421	Epistaxis	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent		186
HP:0000421	HP:0000421	Epistaxis	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0000421	HP:0000421	Epistaxis	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional		3
HP:0000421	HP:0000421	Epistaxis	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040281 - Very frequent		43
HP:0000421	HP:0000421	Epistaxis	0	ETV6 CL E G H	2120	3495	OMIM:616216	Thrombocytopenia 5	.		13
HP:0000421	HP:0000421	Epistaxis	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040282 - Frequent		33
HP:0000421	HP:0000421	Epistaxis	0	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency	.		33
HP:0000421	HP:0000421	Epistaxis	0	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency	HP:0040282 - Frequent		132
HP:0000421	HP:0000421	Epistaxis	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional		60
HP:0000421	HP:0000421	Epistaxis	0	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.		60
HP:0000421	HP:0000421	Epistaxis	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional		32
HP:0000421	HP:0000421	Epistaxis	0	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040282 - Frequent		44
HP:0000421	HP:0000421	Epistaxis	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.		44
HP:0000421	HP:0000421	Epistaxis	0	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040282 - Frequent		159
HP:0000421	HP:0000421	Epistaxis	0	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.		159
HP:0000421	HP:0000421	Epistaxis	0	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency	HP:0040282 - Frequent		70
HP:0000421	HP:0000421	Epistaxis	0	F7 CL E G H	2155	3544	OMIM:227500	Factor VII deficiency	.		70
HP:0000421	HP:0000421	Epistaxis	0	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040282 - Frequent		303
HP:0000421	HP:0000421	Epistaxis	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040282 - Frequent		303
HP:0000421	HP:0000421	Epistaxis	0	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040283 - Occasional
HP:0000421	HP:0000421	Epistaxis	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0000421	HP:0000421	Epistaxis	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included			47
HP:0000421	HP:0000421	Epistaxis	0	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent		47
HP:0000421	HP:0000421	Epistaxis	0	FGA CL E G H	2243	3661	ORPHA:98881	Familial dysfibrinogenemia	HP:0040281 - Very frequent		47
HP:0000421	HP:0000421	Epistaxis	0	FGA CL E G H	2243	3661	ORPHA:101041	Familial hypofibrinogenemia	HP:0040281 - Very frequent		47
HP:0000421	HP:0000421	Epistaxis	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included			62
HP:0000421	HP:0000421	Epistaxis	0	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent		62
HP:0000421	HP:0000421	Epistaxis	0	FGB CL E G H	2244	3662	ORPHA:98881	Familial dysfibrinogenemia	HP:0040281 - Very frequent		62
HP:0000421	HP:0000421	Epistaxis	0	FGB CL E G H	2244	3662	ORPHA:101041	Familial hypofibrinogenemia	HP:0040281 - Very frequent		62
HP:0000421	HP:0000421	Epistaxis	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included			34
HP:0000421	HP:0000421	Epistaxis	0	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent		34
HP:0000421	HP:0000421	Epistaxis	0	FGG CL E G H	2266	3694	ORPHA:98881	Familial dysfibrinogenemia	HP:0040281 - Very frequent		34
HP:0000421	HP:0000421	Epistaxis	0	FGG CL E G H	2266	3694	ORPHA:101041	Familial hypofibrinogenemia	HP:0040281 - Very frequent		34
HP:0000421	HP:0000421	Epistaxis	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0000421	HP:0000421	Epistaxis	0	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3			4
HP:0000421	HP:0000421	Epistaxis	0	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.		29
HP:0000421	HP:0000421	Epistaxis	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.		29
HP:0000421	HP:0000421	Epistaxis	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0000421	HP:0000421	Epistaxis	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000421	HP:0000421	Epistaxis	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent		8
HP:0000421	HP:0000421	Epistaxis	0	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5			8
HP:0000421	HP:0000421	Epistaxis	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.		3
HP:0000421	HP:0000421	Epistaxis	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY			129
HP:0000421	HP:0000421	Epistaxis	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.		129
HP:0000421	HP:0000421	Epistaxis	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0000421	HP:0000421	Epistaxis	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome			23
HP:0000421	HP:0000421	Epistaxis	0	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.		23
HP:0000421	HP:0000421	Epistaxis	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS			23
HP:0000421	HP:0000421	Epistaxis	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome			8
HP:0000421	HP:0000421	Epistaxis	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS			8
HP:0000421	HP:0000421	Epistaxis	0	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.		24
HP:0000421	HP:0000421	Epistaxis	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome			21
HP:0000421	HP:0000421	Epistaxis	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS			21
HP:0000421	HP:0000421	Epistaxis	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000421	HP:0000421	Epistaxis	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0000421	HP:0000421	Epistaxis	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		1
HP:0000421	HP:0000421	Epistaxis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000421	HP:0000421	Epistaxis	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0000421	HP:0000421	Epistaxis	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0000421	HP:0000421	Epistaxis	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000421	HP:0000421	Epistaxis	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.		123
HP:0000421	HP:0000421	Epistaxis	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.		105
HP:0000421	HP:0000421	Epistaxis	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.		45
HP:0000421	HP:0000421	Epistaxis	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional		23
HP:0000421	HP:0000421	Epistaxis	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0000421	HP:0000421	Epistaxis	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia	.		69
HP:0000421	HP:0000421	Epistaxis	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia			69
HP:0000421	HP:0000421	Epistaxis	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia			80
HP:0000421	HP:0000421	Epistaxis	0	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2			80
HP:0000421	HP:0000421	Epistaxis	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		57
HP:0000421	HP:0000421	Epistaxis	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040283 - Occasional		128
HP:0000421	HP:0000421	Epistaxis	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040282 - Frequent		56
HP:0000421	HP:0000421	Epistaxis	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		165
HP:0000421	HP:0000421	Epistaxis	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome	HP:0040281 - Very frequent		239
HP:0000421	HP:0000421	Epistaxis	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0000421	HP:0000421	Epistaxis	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000421	HP:0000421	Epistaxis	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040282 - Frequent		77
HP:0000421	HP:0000421	Epistaxis	0	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of	.		77
HP:0000421	HP:0000421	Epistaxis	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		97
HP:0000421	HP:0000421	Epistaxis	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0000421	HP:0000421	Epistaxis	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.		297
HP:0000421	HP:0000421	Epistaxis	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease			297
HP:0000421	HP:0000421	Epistaxis	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000421	HP:0000421	Epistaxis	0	NBEAL2 CL E G H	23218	31928	ORPHA:721	Gray platelet syndrome	HP:0040282 - Frequent		127
HP:0000421	HP:0000421	Epistaxis	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.		127
HP:0000421	HP:0000421	Epistaxis	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0000421	HP:0000421	Epistaxis	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0000421	HP:0000421	Epistaxis	0	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8			5
HP:0000421	HP:0000421	Epistaxis	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000421	HP:0000421	Epistaxis	0	PLAU CL E G H	5328	9052	OMIM:601709	Quebec platelet disorder	.		50
HP:0000421	HP:0000421	Epistaxis	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		3
HP:0000421	HP:0000421	Epistaxis	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional		58
HP:0000421	HP:0000421	Epistaxis	0	PRKACG CL E G H	5568	9382	OMIM:616176	Bleeding disorder, platelet-type, 19	.		2
HP:0000421	HP:0000421	Epistaxis	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		134
HP:0000421	HP:0000421	Epistaxis	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0000421	HP:0000421	Epistaxis	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000421	HP:0000421	Epistaxis	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		3
HP:0000421	HP:0000421	Epistaxis	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		2
HP:0000421	HP:0000421	Epistaxis	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional		88
HP:0000421	HP:0000421	Epistaxis	0	RASGRP2 CL E G H	10235	9879	OMIM:615888	Bleeding disorder, platelet-type, 18	.		11
HP:0000421	HP:0000421	Epistaxis	0	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy	.		181
HP:0000421	HP:0000421	Epistaxis	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional		26
HP:0000421	HP:0000421	Epistaxis	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040283 - Occasional		39
HP:0000421	HP:0000421	Epistaxis	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:0000421	HP:0000421	Epistaxis	0	SLFN14 CL E G H	342618	32689	OMIM:616913	Bleeding disorder, platelet-type, 20	.		6
HP:0000421	HP:0000421	Epistaxis	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040281 - Very frequent		504
HP:0000421	HP:0000421	Epistaxis	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0000421	HP:0000421	Epistaxis	0	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6			15
HP:0000421	HP:0000421	Epistaxis	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		110
HP:0000421	HP:0000421	Epistaxis	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0000421	HP:0000421	Epistaxis	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.		31
HP:0000421	HP:0000421	Epistaxis	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		237
HP:0000421	HP:0000421	Epistaxis	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		22
HP:0000421	HP:0000421	Epistaxis	0	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13			10
HP:0000421	HP:0000421	Epistaxis	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional		48
HP:0000421	HP:0000421	Epistaxis	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional		238
HP:0000421	HP:0000421	Epistaxis	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		3
HP:0000421	HP:0000421	Epistaxis	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1			533
HP:0000421	HP:0000421	Epistaxis	0	VWF CL E G H	7450	12726	OMIM:613554	Von willebrand disease, type 2	.		533
HP:0000421	HP:0000421	Epistaxis	0	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.		533
HP:0000421	HP:0000421	Epistaxis	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.		65
HP:0000421	HP:0000421	Epistaxis	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		65
HP:0000421	HP:0000421	Epistaxis	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.		65
HP:0000421	HP:0000421	Epistaxis	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		6
HP:0000421	HP:0000421	Epistaxis	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		1
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	HP:0011463 - Childhood onset	178
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	HP:0003621 - Juvenile onset	186
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5			8
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent		23
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent		8
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040282 - Frequent		21
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040281 - Very frequent		69
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040281 - Very frequent		80
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent		297
HP:0000421	HP:0004406	Spontaneous, recurrent epistaxis	1	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6			15