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:0031605	HP:0031605	Abnormality of fundus pigmentation	0	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa	.	114
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa	.	29
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9		35
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease		58
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory		6
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa	.
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa	.	60
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa	.	44
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa	.	158
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome		55
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	EFEMP1 CL E G H	2202	3218	OMIM:126600	Doyne honeycomb retinal dystrophy		54
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa		129
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I		64
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy		24
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy		124
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa	.	62
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II		124
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome		91
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II		121
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa	.	18
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome		40
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy		159
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	159
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa	.	108
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	32
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	107
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	47
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa	.	38
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0031605	HP:0031605	Abnormality of fundus pigmentation	0	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB		146
HP:0031605	HP:0011512	Hyperpigmentation of the fundus	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0031605	HP:0011512	Hyperpigmentation of the fundus	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0031605	HP:0011512	Hyperpigmentation of the fundus	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0031605	HP:0011512	Hyperpigmentation of the fundus	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0031605	HP:0011512	Hyperpigmentation of the fundus	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040281 - Very frequent	3179
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9	.	35
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent	58
HP:0031605	HP:0011512	Hyperpigmentation of the fundus	1	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory		6
HP:0031605	HP:0011512	Hyperpigmentation of the fundus	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0031605	HP:0011512	Hyperpigmentation of the fundus	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome	.	55
HP:0031605	HP:0011512	Hyperpigmentation of the fundus	1	EFEMP1 CL E G H	2202	3218	OMIM:126600	Doyne honeycomb retinal dystrophy		54
HP:0031605	HP:0011512	Hyperpigmentation of the fundus	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa		129
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I		64
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	24
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	124
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.	124
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome	.	91
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0031605	HP:0011512	Hyperpigmentation of the fundus	1	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.	121
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0031605	HP:0011512	Hyperpigmentation of the fundus	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome		40
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	159
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0031605	HP:0007894	Hypopigmentation of the fundus	1	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB	.	146
HP:0031605	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0031605	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0031605	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0031605	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040282 - Frequent	3179
HP:0031605	HP:0007658	Large hyperpigmented retinal spots	2	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.	6
HP:0031605	HP:0007937	Reticular pigmentary degeneration	2	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent	86
HP:0031605	HP:0007937	Reticular pigmentary degeneration	2	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent	57
HP:0031605	HP:0007937	Reticular pigmentary degeneration	2	EFEMP1 CL E G H	2202	3218	OMIM:126600	Doyne honeycomb retinal dystrophy	.	54
HP:0031605	HP:0007937	Reticular pigmentary degeneration	2	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent	54
HP:0031605	HP:0007980	Absent retinal pigment epithelium	2	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0031605	HP:0007680	Depigmented fundus	2	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.	64
HP:0031605	HP:0007980	Absent retinal pigment epithelium	2	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	24
HP:0031605	HP:0007980	Absent retinal pigment epithelium	2	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	124
HP:0031605	HP:0009727	Achromatic retinal patches	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0031605	HP:0007649	Congenital hypertrophy of retinal pigment epithelium	2	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	592
HP:0031605	HP:0007937	Reticular pigmentary degeneration	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0031605	HP:0007980	Absent retinal pigment epithelium	2	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	159
HP:0031605	HP:0009727	Achromatic retinal patches	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0031605	HP:0009727	Achromatic retinal patches	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0031605	HP:0011529	Multiple bilateral congenital hypertrophy of retinal pigment epithelium	3	CL E G H
HP:0031605	HP:0011528	Solitary congenital hypertrophy of retinal pigment epithelium	3	CL E G H
HP:0031605	HP:0030504	Grouped congenital hypertrophy of retinal pigment epithelium	3	CL E G H