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:0001105	HP:0001105	Retinal atrophy	0	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19		826
HP:0001105	HP:0001105	Retinal atrophy	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease		826
HP:0001105	HP:0001105	Retinal atrophy	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4		114
HP:0001105	HP:0001105	Retinal atrophy	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0001105	HP:0001105	Retinal atrophy	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0001105	HP:0001105	Retinal atrophy	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0001105	HP:0001105	Retinal atrophy	0	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus		3
HP:0001105	HP:0001105	Retinal atrophy	0	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0001105	HP:0001105	Retinal atrophy	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0001105	HP:0001105	Retinal atrophy	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0001105	HP:0001105	Retinal atrophy	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0001105	HP:0001105	Retinal atrophy	0	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB		182
HP:0001105	HP:0001105	Retinal atrophy	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0001105	HP:0001105	Retinal atrophy	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001105	HP:0001105	Retinal atrophy	0	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15		147
HP:0001105	HP:0001105	Retinal atrophy	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0001105	HP:0001105	Retinal atrophy	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0001105	HP:0001105	Retinal atrophy	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0001105	HP:0001105	Retinal atrophy	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0001105	HP:0001105	Retinal atrophy	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0001105	HP:0001105	Retinal atrophy	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0001105	HP:0001105	Retinal atrophy	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0001105	HP:0001105	Retinal atrophy	0	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13		57
HP:0001105	HP:0001105	Retinal atrophy	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0001105	HP:0001105	Retinal atrophy	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0001105	HP:0001105	Retinal atrophy	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease		194
HP:0001105	HP:0001105	Retinal atrophy	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0001105	HP:0001105	Retinal atrophy	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2		158
HP:0001105	HP:0001105	Retinal atrophy	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.	159
HP:0001105	HP:0001105	Retinal atrophy	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy		126
HP:0001105	HP:0001105	Retinal atrophy	0	DHX38 CL E G H	9785	17211	OMIM:618220	Retinitis pigmentosa 84		1
HP:0001105	HP:0001105	Retinal atrophy	0	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21		9
HP:0001105	HP:0001105	Retinal atrophy	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0001105	HP:0001105	Retinal atrophy	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease		62
HP:0001105	HP:0001105	Retinal atrophy	0	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3		62
HP:0001105	HP:0001105	Retinal atrophy	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001105	HP:0001105	Retinal atrophy	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0001105	HP:0001105	Retinal atrophy	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0001105	HP:0001105	Retinal atrophy	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0001105	HP:0001105	Retinal atrophy	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0001105	HP:0001105	Retinal atrophy	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0001105	HP:0001105	Retinal atrophy	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0001105	HP:0001105	Retinal atrophy	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0001105	HP:0001105	Retinal atrophy	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy		24
HP:0001105	HP:0001105	Retinal atrophy	0	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3		24
HP:0001105	HP:0001105	Retinal atrophy	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy		124
HP:0001105	HP:0001105	Retinal atrophy	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6		124
HP:0001105	HP:0001105	Retinal atrophy	0	HGSNAT CL E G H	138050	26527	OMIM:616544	Retinitis pigmentosa 73	.	86
HP:0001105	HP:0001105	Retinal atrophy	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0001105	HP:0001105	Retinal atrophy	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy		4
HP:0001105	HP:0001105	Retinal atrophy	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0001105	HP:0001105	Retinal atrophy	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0001105	HP:0001105	Retinal atrophy	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0001105	HP:0001105	Retinal atrophy	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10		52
HP:0001105	HP:0001105	Retinal atrophy	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0001105	HP:0001105	Retinal atrophy	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent	111
HP:0001105	HP:0001105	Retinal atrophy	0	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B		73
HP:0001105	HP:0001105	Retinal atrophy	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0001105	HP:0001105	Retinal atrophy	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent	35
HP:0001105	HP:0001105	Retinal atrophy	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0001105	HP:0001105	Retinal atrophy	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0001105	HP:0001105	Retinal atrophy	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		70
HP:0001105	HP:0001105	Retinal atrophy	0	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type
HP:0001105	HP:0001105	Retinal atrophy	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		62
HP:0001105	HP:0001105	Retinal atrophy	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0001105	HP:0001105	Retinal atrophy	0	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3		1
HP:0001105	HP:0001105	Retinal atrophy	0	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38		75
HP:0001105	HP:0001105	Retinal atrophy	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5		26
HP:0001105	HP:0001105	Retinal atrophy	0	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract	.	1
HP:0001105	HP:0001105	Retinal atrophy	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0001105	HP:0001105	Retinal atrophy	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0001105	HP:0001105	Retinal atrophy	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27		30
HP:0001105	HP:0001105	Retinal atrophy	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0001105	HP:0001105	Retinal atrophy	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional	11
HP:0001105	HP:0001105	Retinal atrophy	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0001105	HP:0001105	Retinal atrophy	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0001105	HP:0001105	Retinal atrophy	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2		11
HP:0001105	HP:0001105	Retinal atrophy	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0001105	HP:0001105	Retinal atrophy	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0001105	HP:0001105	Retinal atrophy	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0001105	HP:0001105	Retinal atrophy	0	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2		110
HP:0001105	HP:0001105	Retinal atrophy	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease		110
HP:0001105	HP:0001105	Retinal atrophy	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0001105	HP:0001105	Retinal atrophy	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy		159
HP:0001105	HP:0001105	Retinal atrophy	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3		159
HP:0001105	HP:0001105	Retinal atrophy	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	159
HP:0001105	HP:0001105	Retinal atrophy	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease		159
HP:0001105	HP:0001105	Retinal atrophy	0	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11		52
HP:0001105	HP:0001105	Retinal atrophy	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome		8
HP:0001105	HP:0001105	Retinal atrophy	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		2
HP:0001105	HP:0001105	Retinal atrophy	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	32
HP:0001105	HP:0001105	Retinal atrophy	0	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77	.	5
HP:0001105	HP:0001105	Retinal atrophy	0	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4		107
HP:0001105	HP:0001105	Retinal atrophy	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	107
HP:0001105	HP:0001105	Retinal atrophy	0	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7		102
HP:0001105	HP:0001105	Retinal atrophy	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy		47
HP:0001105	HP:0001105	Retinal atrophy	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	47
HP:0001105	HP:0001105	Retinal atrophy	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9		14
HP:0001105	HP:0001105	Retinal atrophy	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		129
HP:0001105	HP:0001105	Retinal atrophy	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0001105	HP:0001105	Retinal atrophy	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0001105	HP:0001105	Retinal atrophy	0	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile	.	148
HP:0001105	HP:0001105	Retinal atrophy	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0001105	HP:0001105	Retinal atrophy	0	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy		20
HP:0001105	HP:0001105	Retinal atrophy	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0001105	HP:0001105	Retinal atrophy	0	SLC7A14 CL E G H	57709	29326	OMIM:615725	Retinitis pigmentosa 68	.	4
HP:0001105	HP:0001105	Retinal atrophy	0	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33		83
HP:0001105	HP:0001105	Retinal atrophy	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		48
HP:0001105	HP:0001105	Retinal atrophy	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare	14
HP:0001105	HP:0001105	Retinal atrophy	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040283 - Occasional	95
HP:0001105	HP:0001105	Retinal atrophy	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0001105	HP:0001105	Retinal atrophy	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0001105	HP:0001105	Retinal atrophy	0	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31		61
HP:0001105	HP:0001105	Retinal atrophy	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0001105	HP:0001105	Retinal atrophy	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity		1
HP:0001105	HP:0001105	Retinal atrophy	0	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy		180
HP:0001105	HP:0001105	Retinal atrophy	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8		95
HP:0001105	HP:0001105	Retinal atrophy	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19	.	826
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	826
HP:0001105	HP:0007401	Macular atrophy	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.	114
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.	87
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0001105	HP:0031609	Geographic atrophy	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0001105	HP:0007401	Macular atrophy	1	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	.	3
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040284 - Very rare	10
HP:0001105	HP:0007401	Macular atrophy	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB		182
HP:0001105	HP:0007401	Macular atrophy	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional	20
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15		147
HP:0001105	HP:0007401	Macular atrophy	1	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0001105	HP:0007401	Macular atrophy	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	86
HP:0001105	HP:0031609	Geographic atrophy	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0001105	HP:0031609	Geographic atrophy	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0001105	HP:0007401	Macular atrophy	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	57
HP:0001105	HP:0007401	Macular atrophy	1	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13		57
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040284 - Very rare	82
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040284 - Very rare	194
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	194
HP:0001105	HP:0007401	Macular atrophy	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2		158
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent	126
HP:0001105	HP:0007401	Macular atrophy	1	DHX38 CL E G H	9785	17211	OMIM:618220	Retinitis pigmentosa 84	.	1
HP:0001105	HP:0007401	Macular atrophy	1	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21	.	9
HP:0001105	HP:0007401	Macular atrophy	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	54
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	62
HP:0001105	HP:0007401	Macular atrophy	1	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3		62
HP:0001105	HP:0007401	Macular atrophy	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0001105	HP:0007401	Macular atrophy	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040284 - Very rare	19
HP:0001105	HP:0007401	Macular atrophy	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	24
HP:0001105	HP:0007401	Macular atrophy	1	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3	HP:0040283 - Occasional	24
HP:0001105	HP:0007401	Macular atrophy	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	124
HP:0001105	HP:0007401	Macular atrophy	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.	124
HP:0001105	HP:0007401	Macular atrophy	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79	.	11
HP:0001105	HP:0007401	Macular atrophy	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy		4
HP:0001105	HP:0031609	Geographic atrophy	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0001105	HP:0007401	Macular atrophy	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80	.	148
HP:0001105	HP:0031609	Geographic atrophy	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.	52
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0001105	HP:0007401	Macular atrophy	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	HP:0040283 - Occasional	73
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	70
HP:0001105	HP:0200070	Peripheral retinal atrophy	1	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type	.
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	62
HP:0001105	HP:0007401	Macular atrophy	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0001105	HP:0007401	Macular atrophy	1	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3	.	1
HP:0001105	HP:0007401	Macular atrophy	1	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38	.	75
HP:0001105	HP:0200070	Peripheral retinal atrophy	1	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38	.	75
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0001105	HP:0007401	Macular atrophy	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0001105	HP:0007401	Macular atrophy	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0001105	HP:0031609	Geographic atrophy	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0001105	HP:0007401	Macular atrophy	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.	30
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0001105	HP:0007401	Macular atrophy	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional	11
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040284 - Very rare	80
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040284 - Very rare	14
HP:0001105	HP:0007401	Macular atrophy	1	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	HP:0040283 - Occasional	11
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.	110
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	110
HP:0001105	HP:0007401	Macular atrophy	1	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11	HP:0040283 - Occasional	70
HP:0001105	HP:0007401	Macular atrophy	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	159
HP:0001105	HP:0007401	Macular atrophy	1	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.	159
HP:0001105	HP:0007401	Macular atrophy	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	159
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	159
HP:0001105	HP:0007401	Macular atrophy	1	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11	.	52
HP:0001105	HP:0200070	Peripheral retinal atrophy	1	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.	8
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		2
HP:0001105	HP:0007401	Macular atrophy	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	32
HP:0001105	HP:0007401	Macular atrophy	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	107
HP:0001105	HP:0007401	Macular atrophy	1	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7		102
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional	47
HP:0001105	HP:0007401	Macular atrophy	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	47
HP:0001105	HP:0007401	Macular atrophy	1	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	HP:0040283 - Occasional	14
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	129
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040284 - Very rare	200
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0001105	HP:0007401	Macular atrophy	1	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile		148
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile		148
HP:0001105	HP:0007401	Macular atrophy	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0001105	HP:0007401	Macular atrophy	1	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy	.	20
HP:0001105	HP:0200070	Peripheral retinal atrophy	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0001105	HP:0007401	Macular atrophy	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33		83
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	48
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040283 - Occasional	95
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0001105	HP:0007401	Macular atrophy	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31		61
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	.	1
HP:0001105	HP:0007722	Retinal pigment epithelial atrophy	1	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.	180
HP:0001105	HP:0007401	Macular atrophy	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.	95
HP:0001105	HP:0007401	Macular atrophy	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001105	HP:0007791	Patchy atrophy of the retinal pigment epithelium	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent	20
HP:0001105	HP:0200056	Macular scar	2	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13	.	57
HP:0001105	HP:0200056	Macular scar	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent	4
HP:0001105	HP:0200056	Macular scar	2	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0001105	HP:0007791	Patchy atrophy of the retinal pigment epithelium	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0001105	HP:0200056	Macular scar	2	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0001105	HP:0200056	Macular scar	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	HP:0040283 - Occasional	44
HP:0001105	HP:0025094	Disciform macular scar	3	CL E G H