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:0031803	HP:0031803	Fundus hemorrhage	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0031803	HP:0031803	Fundus hemorrhage	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0031803	HP:0031803	Fundus hemorrhage	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste		415
HP:0031803	HP:0031803	Fundus hemorrhage	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0031803	HP:0031803	Fundus hemorrhage	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0031803	HP:0031803	Fundus hemorrhage	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0031803	HP:0031803	Fundus hemorrhage	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0031803	HP:0031803	Fundus hemorrhage	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0031803	HP:0031803	Fundus hemorrhage	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0031803	HP:0031803	Fundus hemorrhage	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0031803	HP:0031803	Fundus hemorrhage	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0031803	HP:0031803	Fundus hemorrhage	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0031803	HP:0031803	Fundus hemorrhage	0	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps		193
HP:0031803	HP:0031803	Fundus hemorrhage	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0031803	HP:0031803	Fundus hemorrhage	0	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of		193
HP:0031803	HP:0031803	Fundus hemorrhage	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5		167
HP:0031803	HP:0031803	Fundus hemorrhage	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0031803	HP:0031803	Fundus hemorrhage	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0031803	HP:0031803	Fundus hemorrhage	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0031803	HP:0031803	Fundus hemorrhage	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0031803	HP:0031803	Fundus hemorrhage	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0031803	HP:0031803	Fundus hemorrhage	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0031803	HP:0031803	Fundus hemorrhage	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0031803	HP:0031803	Fundus hemorrhage	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0031803	HP:0031803	Fundus hemorrhage	0	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia		23
HP:0031803	HP:0031803	Fundus hemorrhage	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0031803	HP:0031803	Fundus hemorrhage	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0031803	HP:0031803	Fundus hemorrhage	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0031803	HP:0031803	Fundus hemorrhage	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0031803	HP:0031803	Fundus hemorrhage	0	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia		58
HP:0031803	HP:0031803	Fundus hemorrhage	0	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia		26
HP:0031803	HP:0031803	Fundus hemorrhage	0	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia		48
HP:0031803	HP:0031803	Fundus hemorrhage	0	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia		238
HP:0031803	HP:0031803	Fundus hemorrhage	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy		56
HP:0031803	HP:0031803	Fundus hemorrhage	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0031803	HP:0031803	Fundus hemorrhage	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0031803	HP:0025240	Preretinal hemorrhage	1	CL E G H
HP:0031803	HP:0000573	Retinal hemorrhage	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0031803	HP:0000573	Retinal hemorrhage	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	415
HP:0031803	HP:0000573	Retinal hemorrhage	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0031803	HP:0000573	Retinal hemorrhage	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0031803	HP:0000573	Retinal hemorrhage	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0031803	HP:0000573	Retinal hemorrhage	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0031803	HP:0000573	Retinal hemorrhage	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0031803	HP:0000573	Retinal hemorrhage	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0031803	HP:0000573	Retinal hemorrhage	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0031803	HP:0000573	Retinal hemorrhage	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0031803	HP:0000573	Retinal hemorrhage	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0031803	HP:0000573	Retinal hemorrhage	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0031803	HP:0000573	Retinal hemorrhage	1	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	.	193
HP:0031803	HP:0000573	Retinal hemorrhage	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0031803	HP:0000573	Retinal hemorrhage	1	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of	.	193
HP:0031803	HP:0000573	Retinal hemorrhage	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.	167
HP:0031803	HP:0000573	Retinal hemorrhage	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0031803	HP:0000573	Retinal hemorrhage	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0031803	HP:0000573	Retinal hemorrhage	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0031803	HP:0000573	Retinal hemorrhage	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	151
HP:0031803	HP:0000573	Retinal hemorrhage	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0031803	HP:0000573	Retinal hemorrhage	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0031803	HP:0000573	Retinal hemorrhage	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	115
HP:0031803	HP:0000573	Retinal hemorrhage	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0031803	HP:0000573	Retinal hemorrhage	1	IFNG CL E G H	3458	5438	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	23
HP:0031803	HP:0000573	Retinal hemorrhage	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0031803	HP:0000573	Retinal hemorrhage	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0031803	HP:0000573	Retinal hemorrhage	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0031803	HP:0000573	Retinal hemorrhage	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0031803	HP:0000573	Retinal hemorrhage	1	PRF1 CL E G H	5551	9360	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	58
HP:0031803	HP:0000573	Retinal hemorrhage	1	SBDS CL E G H	51119	19440	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	26
HP:0031803	HP:0000573	Retinal hemorrhage	1	TERC CL E G H	7012	11727	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	48
HP:0031803	HP:0000573	Retinal hemorrhage	1	TERT CL E G H	7015	11730	ORPHA:88	Idiopathic aplastic anemia	HP:0040283 - Occasional	238
HP:0031803	HP:0000573	Retinal hemorrhage	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0031803	HP:0000573	Retinal hemorrhage	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0031803	HP:0000573	Retinal hemorrhage	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0031803	HP:0031611	Sub-inner limiting membrane hemorrhage	2	CL E G H
HP:0031803	HP:0025239	Subhyaloid hemorrhage	2	CL E G H
HP:0031803	HP:0025243	Subretinal hemorrhage	2	CL E G H
HP:0031803	HP:0031805	Intraretinal hemorrhage	2	CL E G H
HP:0031803	HP:0031804	Premacular hemorrhage	2	CL E G H
HP:0031803	HP:0025574	Macular hemorrhage	2	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1	HP:0040283 - Occasional	39
HP:0031803	HP:0025244	Subretinal pigment epithelium hemorrhage	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0031803	HP:0025244	Subretinal pigment epithelium hemorrhage	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0031803	HP:0025244	Subretinal pigment epithelium hemorrhage	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0031803	HP:0025574	Macular hemorrhage	2	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	86
HP:0031803	HP:0025574	Macular hemorrhage	2	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1	HP:0040283 - Occasional
HP:0031803	HP:0025574	Macular hemorrhage	2	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1	HP:0040283 - Occasional
HP:0031803	HP:0025574	Macular hemorrhage	2	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	57
HP:0031803	HP:0025574	Macular hemorrhage	2	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	54
HP:0031803	HP:0025574	Macular hemorrhage	2	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1	HP:0040283 - Occasional	262
HP:0031803	HP:0025582	Submacular hemorrhage	3	CL E G H
HP:0031803	HP:0025581	Foveal hemorrhage	3	CL E G H
HP:0031803	HP:0025242	Dot-and-blot retinal hemorrhage	3	CL E G H
HP:0031803	HP:0025241	Flame-shaped retinal hemorrhage	3	CL E G H