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:0008002	HP:0008002	Abnormality of macular pigmentation	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	826
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	ABCA4 CL E G H	24	34	OMIM:248200	Stargardt disease 1		826
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	ADAR CL E G H	103	225	ORPHA:41	Dyschromatosis symmetrica hereditaria		116
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3		58
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040281 - Very frequent	87
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	194
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2		158
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	CTNNA1 CL E G H	1495	2509	OMIM:608970	Macular dystrophy, patterned, 2		141
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	62
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20		3
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10		52
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular		4
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		70
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type	.
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		62
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62		53
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement		120
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent	101
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	HP:0040283 - Occasional	7
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	HP:0040283 - Occasional	5
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12		110
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2		110
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	110
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	159
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18		6
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11		52
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12	.	95
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7		102
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		129
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		48
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0008002	HP:0008002	Abnormality of macular pigmentation	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0008002	HP:0011504	Bull's eye maculopathy	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0008002	HP:0011504	Bull's eye maculopathy	1	ABCA4 CL E G H	24	34	OMIM:248200	Stargardt disease 1		826
HP:0008002	HP:0011509	Macular hyperpigmentation	1	ADAR CL E G H	103	225	ORPHA:41	Dyschromatosis symmetrica hereditaria	HP:0040281 - Very frequent	116
HP:0008002	HP:0007988	Macular hypopigmentation	1	ADAR CL E G H	103	225	ORPHA:41	Dyschromatosis symmetrica hereditaria	HP:0040281 - Very frequent	116
HP:0008002	HP:0030493	Abnormality of foveal pigmentation	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0008002	HP:0025147	Beaten bronze macular sheen	1	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0008002	HP:0007793	Granular macular appearance	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	86
HP:0008002	HP:0011509	Macular hyperpigmentation	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	86
HP:0008002	HP:0030493	Abnormality of foveal pigmentation	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0008002	HP:0030493	Abnormality of foveal pigmentation	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0008002	HP:0007793	Granular macular appearance	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	57
HP:0008002	HP:0011509	Macular hyperpigmentation	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	57
HP:0008002	HP:0007793	Granular macular appearance	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0008002	HP:0011504	Bull's eye maculopathy	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0008002	HP:0011509	Macular hyperpigmentation	1	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2		158
HP:0008002	HP:0030493	Abnormality of foveal pigmentation	1	CTNNA1 CL E G H	1495	2509	OMIM:608970	Macular dystrophy, patterned, 2		141
HP:0008002	HP:0007793	Granular macular appearance	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	54
HP:0008002	HP:0011509	Macular hyperpigmentation	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	54
HP:0008002	HP:0030493	Abnormality of foveal pigmentation	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0008002	HP:0007988	Macular hypopigmentation	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20		3
HP:0008002	HP:0011504	Bull's eye maculopathy	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10		52
HP:0008002	HP:0030493	Abnormality of foveal pigmentation	1	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular		4
HP:0008002	HP:0007793	Granular macular appearance	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	70
HP:0008002	HP:0007793	Granular macular appearance	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	62
HP:0008002	HP:0011504	Bull's eye maculopathy	1	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62		53
HP:0008002	HP:0007988	Macular hypopigmentation	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	124
HP:0008002	HP:0011504	Bull's eye maculopathy	1	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement	HP:0040283 - Occasional	120
HP:0008002	HP:0007988	Macular hypopigmentation	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0008002	HP:0007988	Macular hypopigmentation	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	121
HP:0008002	HP:0011509	Macular hyperpigmentation	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	HP:0040283 - Occasional	39
HP:0008002	HP:0011504	Bull's eye maculopathy	1	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12		110
HP:0008002	HP:0007793	Granular macular appearance	1	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.	110
HP:0008002	HP:0030493	Abnormality of foveal pigmentation	1	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18		6
HP:0008002	HP:0011504	Bull's eye maculopathy	1	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11	.	52
HP:0008002	HP:0011504	Bull's eye maculopathy	1	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7		102
HP:0008002	HP:0011504	Bull's eye maculopathy	1	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0008002	HP:0007793	Granular macular appearance	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	129
HP:0008002	HP:0030493	Abnormality of foveal pigmentation	1	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0008002	HP:0007793	Granular macular appearance	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	48
HP:0008002	HP:0011504	Bull's eye maculopathy	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0008002	HP:0011504	Bull's eye maculopathy	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional	6
HP:0008002	HP:0011504	Bull's eye maculopathy	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0008002	HP:0012643	Foveal hypopigmentation	2	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1	.	39
HP:0008002	HP:0012643	Foveal hypopigmentation	2	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1	.
HP:0008002	HP:0012643	Foveal hypopigmentation	2	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1	.
HP:0008002	HP:0008001	Foveal hyperpigmentation	2	CTNNA1 CL E G H	1495	2509	OMIM:608970	Macular dystrophy, patterned, 2	.	141
HP:0008002	HP:0012643	Foveal hypopigmentation	2	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1	.	262
HP:0008002	HP:0008001	Foveal hyperpigmentation	2	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular	.	4
HP:0008002	HP:0008001	Foveal hyperpigmentation	2	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18	.	6
HP:0008002	HP:0008001	Foveal hyperpigmentation	2	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.	13
HP:0008002	HP:0500088	Foveal depigmentation	3	CL E G H