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:0000493	HP:0000493	Abnormal foveal morphology	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	826
HP:0000493	HP:0000493	Abnormal foveal morphology	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism		1
HP:0000493	HP:0000493	Abnormal foveal morphology	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0000493	HP:0000493	Abnormal foveal morphology	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0000493	HP:0000493	Abnormal foveal morphology	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0000493	HP:0000493	Abnormal foveal morphology	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0000493	HP:0000493	Abnormal foveal morphology	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000493	HP:0000493	Abnormal foveal morphology	0	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease		58
HP:0000493	HP:0000493	Abnormal foveal morphology	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease		58
HP:0000493	HP:0000493	Abnormal foveal morphology	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3		58
HP:0000493	HP:0000493	Abnormal foveal morphology	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000493	HP:0000493	Abnormal foveal morphology	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000493	HP:0000493	Abnormal foveal morphology	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000493	HP:0000493	Abnormal foveal morphology	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0000493	HP:0000493	Abnormal foveal morphology	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0000493	HP:0000493	Abnormal foveal morphology	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0000493	HP:0000493	Abnormal foveal morphology	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	194
HP:0000493	HP:0000493	Abnormal foveal morphology	0	CTNNA1 CL E G H	1495	2509	OMIM:608970	Macular dystrophy, patterned, 2		141
HP:0000493	HP:0000493	Abnormal foveal morphology	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000493	HP:0000493	Abnormal foveal morphology	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	62
HP:0000493	HP:0000493	Abnormal foveal morphology	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0000493	HP:0000493	Abnormal foveal morphology	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0000493	HP:0000493	Abnormal foveal morphology	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0000493	HP:0000493	Abnormal foveal morphology	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0000493	HP:0000493	Abnormal foveal morphology	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism		64
HP:0000493	HP:0000493	Abnormal foveal morphology	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0000493	HP:0000493	Abnormal foveal morphology	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0000493	HP:0000493	Abnormal foveal morphology	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0000493	HP:0000493	Abnormal foveal morphology	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0000493	HP:0000493	Abnormal foveal morphology	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0000493	HP:0000493	Abnormal foveal morphology	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0000493	HP:0000493	Abnormal foveal morphology	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0000493	HP:0000493	Abnormal foveal morphology	0	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular		4
HP:0000493	HP:0000493	Abnormal foveal morphology	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0000493	HP:0000493	Abnormal foveal morphology	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II		124
HP:0000493	HP:0000493	Abnormal foveal morphology	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0000493	HP:0000493	Abnormal foveal morphology	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0000493	HP:0000493	Abnormal foveal morphology	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000493	HP:0000493	Abnormal foveal morphology	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0000493	HP:0000493	Abnormal foveal morphology	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency		94
HP:0000493	HP:0000493	Abnormal foveal morphology	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II		121
HP:0000493	HP:0000493	Abnormal foveal morphology	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0000493	HP:0000493	Abnormal foveal morphology	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0000493	HP:0000493	Abnormal foveal morphology	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0000493	HP:0000493	Abnormal foveal morphology	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0000493	HP:0000493	Abnormal foveal morphology	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0000493	HP:0000493	Abnormal foveal morphology	0	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included		194
HP:0000493	HP:0000493	Abnormal foveal morphology	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0000493	HP:0000493	Abnormal foveal morphology	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57		18
HP:0000493	HP:0000493	Abnormal foveal morphology	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0000493	HP:0000493	Abnormal foveal morphology	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	110
HP:0000493	HP:0000493	Abnormal foveal morphology	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens		159
HP:0000493	HP:0000493	Abnormal foveal morphology	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	159
HP:0000493	HP:0000493	Abnormal foveal morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000493	HP:0000493	Abnormal foveal morphology	0	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18		6
HP:0000493	HP:0000493	Abnormal foveal morphology	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome		8
HP:0000493	HP:0000493	Abnormal foveal morphology	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens		32
HP:0000493	HP:0000493	Abnormal foveal morphology	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens		107
HP:0000493	HP:0000493	Abnormal foveal morphology	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040282 - Frequent	47
HP:0000493	HP:0000493	Abnormal foveal morphology	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens		47
HP:0000493	HP:0000493	Abnormal foveal morphology	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0000493	HP:0000493	Abnormal foveal morphology	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0000493	HP:0000493	Abnormal foveal morphology	0	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI		12
HP:0000493	HP:0000493	Abnormal foveal morphology	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0000493	HP:0000493	Abnormal foveal morphology	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4		42
HP:0000493	HP:0000493	Abnormal foveal morphology	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000493	HP:0000493	Abnormal foveal morphology	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0000493	HP:0000493	Abnormal foveal morphology	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A		146
HP:0000493	HP:0000493	Abnormal foveal morphology	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B		146
HP:0000493	HP:0000493	Abnormal foveal morphology	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000493	HP:0000493	Abnormal foveal morphology	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0000493	HP:0025146	Foveal degeneration	1	CL E G H
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism		1
HP:0000493	HP:0030493	Abnormality of foveal pigmentation	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0000493	HP:0030825	Absent foveal reflex	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	10
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0000493	HP:0030825	Absent foveal reflex	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease		58
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease		58
HP:0000493	HP:0030825	Absent foveal reflex	1	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3	HP:0040283 - Occasional	58
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000493	HP:0030493	Abnormality of foveal pigmentation	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000493	HP:0030493	Abnormality of foveal pigmentation	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000493	HP:0030825	Absent foveal reflex	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	82
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0000493	HP:0034362	Dull foveal reflex	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0000493	HP:0030825	Absent foveal reflex	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0000493	HP:0030825	Absent foveal reflex	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	194
HP:0000493	HP:0030493	Abnormality of foveal pigmentation	1	CTNNA1 CL E G H	1495	2509	OMIM:608970	Macular dystrophy, patterned, 2		141
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000493	HP:0025007	Ectopic fovea	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0000493	HP:0030825	Absent foveal reflex	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	19
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism		64
HP:0000493	HP:0030493	Abnormality of foveal pigmentation	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0000493	HP:0030825	Absent foveal reflex	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0000493	HP:0030493	Abnormality of foveal pigmentation	1	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular		4
HP:0000493	HP:0025007	Ectopic fovea	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II		124
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0000493	HP:0012152	Foveoschisis	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0000493	HP:0012152	Foveoschisis	1	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency		94
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II		121
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0000493	HP:0030825	Absent foveal reflex	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included		194
HP:0000493	HP:0030825	Absent foveal reflex	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	80
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0000493	HP:0030825	Absent foveal reflex	1	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57		18
HP:0000493	HP:0030825	Absent foveal reflex	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	14
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0000493	HP:0030825	Absent foveal reflex	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent	159
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000493	HP:0030493	Abnormality of foveal pigmentation	1	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18		6
HP:0000493	HP:0025010	Foveal atrophy	1	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18	HP:0040283 - Occasional	6
HP:0000493	HP:0030825	Absent foveal reflex	1	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	HP:0040283 - Occasional	8
HP:0000493	HP:0030825	Absent foveal reflex	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent	32
HP:0000493	HP:0030825	Absent foveal reflex	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent	107
HP:0000493	HP:0030825	Absent foveal reflex	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent	47
HP:0000493	HP:0030825	Absent foveal reflex	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0000493	HP:0030825	Absent foveal reflex	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	200
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI		12
HP:0000493	HP:0030493	Abnormality of foveal pigmentation	1	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2		13
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4		42
HP:0000493	HP:0030825	Absent foveal reflex	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A		146
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B		146
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000493	HP:0008060	Aplasia/Hypoplasia of the fovea	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0000493	HP:0011503	Aplasia of the fovea	2	CL E G H
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040282 - Frequent	1
HP:0000493	HP:0012643	Foveal hypopigmentation	2	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1	.	39
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	10
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.	42
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.	58
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent	58
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000493	HP:0012643	Foveal hypopigmentation	2	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1	.
HP:0000493	HP:0012643	Foveal hypopigmentation	2	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1	.
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	82
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	194
HP:0000493	HP:0008001	Foveal hyperpigmentation	2	CTNNA1 CL E G H	1495	2509	OMIM:608970	Macular dystrophy, patterned, 2	.	141
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	19
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040282 - Frequent	64
HP:0000493	HP:0012643	Foveal hypopigmentation	2	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1	.	262
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.	105
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0000493	HP:0008001	Foveal hyperpigmentation	2	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular	.	4
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.	124
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	124
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.	121
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	121
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.	194
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent	194
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included	.	194
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	80
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	14
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000493	HP:0008001	Foveal hyperpigmentation	2	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18	.	6
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	200
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.	12
HP:0000493	HP:0008001	Foveal hyperpigmentation	2	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.	13
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.	13
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040281 - Very frequent	42
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.	146
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent	146
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040282 - Frequent	146
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000493	HP:0007750	Hypoplasia of the fovea	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0000493	HP:0500088	Foveal depigmentation	3	CL E G H