Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000608	HP:0000608	Macular degeneration	0	ABCA4 CL E G H	24	34	OMIM:153800	Macular degeneration, age-related, 2			826
HP:0000608	HP:0000608	Macular degeneration	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		826
HP:0000608	HP:0000608	Macular degeneration	0	ABCA4 CL E G H	24	34	OMIM:248200	Stargardt disease 1	.		826
HP:0000608	HP:0000608	Macular degeneration	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.		415
HP:0000608	HP:0000608	Macular degeneration	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0000608	HP:0000608	Macular degeneration	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0000608	HP:0000608	Macular degeneration	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040282 - Frequent		87
HP:0000608	HP:0000608	Macular degeneration	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.		87
HP:0000608	HP:0000608	Macular degeneration	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		64
HP:0000608	HP:0000608	Macular degeneration	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000608	HP:0000608	Macular degeneration	0	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus			3
HP:0000608	HP:0000608	Macular degeneration	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0000608	HP:0000608	Macular degeneration	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000608	HP:0000608	Macular degeneration	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.		8
HP:0000608	HP:0000608	Macular degeneration	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040283 - Occasional		8
HP:0000608	HP:0000608	Macular degeneration	0	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy			182
HP:0000608	HP:0000608	Macular degeneration	0	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2			182
HP:0000608	HP:0000608	Macular degeneration	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent		20
HP:0000608	HP:0000608	Macular degeneration	0	C9 CL E G H	735	1358	OMIM:615591	MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15			10
HP:0000608	HP:0000608	Macular degeneration	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000608	HP:0000608	Macular degeneration	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040281 - Very frequent		87
HP:0000608	HP:0000608	Macular degeneration	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000608	HP:0000608	Macular degeneration	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000608	HP:0000608	Macular degeneration	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000608	HP:0000608	Macular degeneration	0	CFH CL E G H	3075	4883	OMIM:610698	Macular degeneration, age-related, 4	.	HP:0003584 - Late onset	86
HP:0000608	HP:0000608	Macular degeneration	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000608	HP:0000608	Macular degeneration	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000608	HP:0000608	Macular degeneration	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000608	HP:0000608	Macular degeneration	0	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13	.		57
HP:0000608	HP:0000608	Macular degeneration	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0000608	HP:0000608	Macular degeneration	0	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45	HP:0040283 - Occasional		164
HP:0000608	HP:0000608	Macular degeneration	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		194
HP:0000608	HP:0000608	Macular degeneration	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000608	HP:0000608	Macular degeneration	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040281 - Very frequent		177
HP:0000608	HP:0000608	Macular degeneration	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent		115
HP:0000608	HP:0000608	Macular degeneration	0	CST3 CL E G H	1471	2475	OMIM:611953	Macular degeneration, age-related, 11	.	HP:0003584 - Late onset	3
HP:0000608	HP:0000608	Macular degeneration	0	DHX38 CL E G H	9785	17211	OMIM:618220	Retinitis pigmentosa 84			1
HP:0000608	HP:0000608	Macular degeneration	0	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21			9
HP:0000608	HP:0000608	Macular degeneration	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000608	HP:0000608	Macular degeneration	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		62
HP:0000608	HP:0000608	Macular degeneration	0	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3			62
HP:0000608	HP:0000608	Macular degeneration	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000608	HP:0000608	Macular degeneration	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000608	HP:0000608	Macular degeneration	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000608	HP:0000608	Macular degeneration	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent		12
HP:0000608	HP:0000608	Macular degeneration	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0000608	HP:0000608	Macular degeneration	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0000608	HP:0000608	Macular degeneration	0	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD			655
HP:0000608	HP:0000608	Macular degeneration	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0000608	HP:0000608	Macular degeneration	0	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040283 - Occasional		4
HP:0000608	HP:0000608	Macular degeneration	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000608	HP:0000608	Macular degeneration	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000608	HP:0000608	Macular degeneration	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy			24
HP:0000608	HP:0000608	Macular degeneration	0	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3			24
HP:0000608	HP:0000608	Macular degeneration	0	GUCA1B CL E G H	2979	4679	OMIM:613827	RETINITIS PIGMENTOSA 48; RP48			36
HP:0000608	HP:0000608	Macular degeneration	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy			124
HP:0000608	HP:0000608	Macular degeneration	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000608	HP:0000608	Macular degeneration	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79			11
HP:0000608	HP:0000608	Macular degeneration	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0000608	HP:0000608	Macular degeneration	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000608	HP:0000608	Macular degeneration	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0000608	HP:0000608	Macular degeneration	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000608	HP:0000608	Macular degeneration	0	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000608	HP:0000608	Macular degeneration	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20			1
HP:0000608	HP:0000608	Macular degeneration	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0000608	HP:0000608	Macular degeneration	0	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3			1
HP:0000608	HP:0000608	Macular degeneration	0	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38			75
HP:0000608	HP:0000608	Macular degeneration	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000608	HP:0000608	Macular degeneration	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000608	HP:0000608	Macular degeneration	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:0000608	HP:0000608	Macular degeneration	0	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37			58
HP:0000608	HP:0000608	Macular degeneration	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0000608	HP:0000608	Macular degeneration	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040281 - Very frequent
HP:0000608	HP:0000608	Macular degeneration	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	HP:0040283 - Occasional		39
HP:0000608	HP:0000608	Macular degeneration	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0000608	HP:0000608	Macular degeneration	0	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5			135
HP:0000608	HP:0000608	Macular degeneration	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2			11
HP:0000608	HP:0000608	Macular degeneration	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0000608	HP:0000608	Macular degeneration	0	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36	.		39
HP:0000608	HP:0000608	Macular degeneration	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000608	HP:0000608	Macular degeneration	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		110
HP:0000608	HP:0000608	Macular degeneration	0	PROM1 CL E G H	8842	9454	OMIM:603786	Stargardt disease 4	.		110
HP:0000608	HP:0000608	Macular degeneration	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11	HP:0040283 - Occasional		70
HP:0000608	HP:0000608	Macular degeneration	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy			159
HP:0000608	HP:0000608	Macular degeneration	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3			159
HP:0000608	HP:0000608	Macular degeneration	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000608	HP:0000608	Macular degeneration	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		159
HP:0000608	HP:0000608	Macular degeneration	0	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11			52
HP:0000608	HP:0000608	Macular degeneration	0	RAX2 CL E G H	84839	18286	OMIM:613757	Macular degeneration, age-related, 6	.		52
HP:0000608	HP:0000608	Macular degeneration	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000608	HP:0000608	Macular degeneration	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000608	HP:0000608	Macular degeneration	0	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7			102
HP:0000608	HP:0000608	Macular degeneration	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040282 - Frequent		47
HP:0000608	HP:0000608	Macular degeneration	0	RLBP1 CL E G H	6017	10024	OMIM:607475	Bothnia retinal dystrophy	.		47
HP:0000608	HP:0000608	Macular degeneration	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000608	HP:0000608	Macular degeneration	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000608	HP:0000608	Macular degeneration	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000608	HP:0000608	Macular degeneration	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0000608	HP:0000608	Macular degeneration	0	RPGR CL E G H	6103	10295	OMIM:300834	MACULAR DEGENERATION, X-LINKED ATROPHIC			200
HP:0000608	HP:0000608	Macular degeneration	0	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0000608	HP:0000608	Macular degeneration	0	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000608	HP:0000608	Macular degeneration	0	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040283 - Occasional		32
HP:0000608	HP:0000608	Macular degeneration	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa	.
HP:0000608	HP:0000608	Macular degeneration	0	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10	.		48
HP:0000608	HP:0000608	Macular degeneration	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0000608	HP:0000608	Macular degeneration	0	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy			20
HP:0000608	HP:0000608	Macular degeneration	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000608	HP:0000608	Macular degeneration	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	HP:0003581 - Adult onset	287
HP:0000608	HP:0000608	Macular degeneration	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000608	HP:0000608	Macular degeneration	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0000608	HP:0000608	Macular degeneration	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	.		6
HP:0000608	HP:0000608	Macular degeneration	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.		41
HP:0000608	HP:0000608	Macular degeneration	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0000608	HP:0000608	Macular degeneration	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0000608	HP:0000608	Macular degeneration	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0000608	HP:0000608	Macular degeneration	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000608	HP:0000608	Macular degeneration	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0000608	HP:0000608	Macular degeneration	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0000608	HP:0025146	Foveal degeneration	1	CL E G H
HP:0000608	HP:0007401	Macular atrophy	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0000608	HP:0007401	Macular atrophy	1	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	.		3
HP:0000608	HP:0007401	Macular atrophy	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000608	HP:0008028	Cystoid macular degeneration	1	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy	HP:0040281 - Very frequent		182
HP:0000608	HP:0008028	Cystoid macular degeneration	1	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2	.		182
HP:0000608	HP:0007401	Macular atrophy	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional		20
HP:0000608	HP:0007401	Macular atrophy	1	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000608	HP:0007401	Macular atrophy	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		86
HP:0000608	HP:0007401	Macular atrophy	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		57
HP:0000608	HP:0007401	Macular atrophy	1	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0000608	HP:0007401	Macular atrophy	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000608	HP:0007401	Macular atrophy	1	DHX38 CL E G H	9785	17211	OMIM:618220	Retinitis pigmentosa 84	.		1
HP:0000608	HP:0007401	Macular atrophy	1	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21	.		9
HP:0000608	HP:0007401	Macular atrophy	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		54
HP:0000608	HP:0007401	Macular atrophy	1	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3			62
HP:0000608	HP:0007401	Macular atrophy	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000608	HP:0007401	Macular atrophy	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0000608	HP:0007401	Macular atrophy	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		24
HP:0000608	HP:0007401	Macular atrophy	1	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3	HP:0040283 - Occasional		24
HP:0000608	HP:0007401	Macular atrophy	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		124
HP:0000608	HP:0007401	Macular atrophy	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.		124
HP:0000608	HP:0007401	Macular atrophy	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79	.		11
HP:0000608	HP:0007401	Macular atrophy	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0000608	HP:0007401	Macular atrophy	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80	.		148
HP:0000608	HP:0007401	Macular atrophy	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	HP:0040283 - Occasional		73
HP:0000608	HP:0007401	Macular atrophy	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0000608	HP:0007401	Macular atrophy	1	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3	.		1
HP:0000608	HP:0007401	Macular atrophy	1	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38	.		75
HP:0000608	HP:0007401	Macular atrophy	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000608	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:0000608	HP:0008028	Cystoid macular degeneration	1	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.		58
HP:0000608	HP:0007401	Macular atrophy	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.		30
HP:0000608	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:0000608	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:0000608	HP:0007401	Macular atrophy	1	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11	HP:0040283 - Occasional		70
HP:0000608	HP:0007401	Macular atrophy	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		159
HP:0000608	HP:0007401	Macular atrophy	1	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.		159
HP:0000608	HP:0007401	Macular atrophy	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		159
HP:0000608	HP:0007401	Macular atrophy	1	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11	.		52
HP:0000608	HP:0007401	Macular atrophy	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		32
HP:0000608	HP:0007401	Macular atrophy	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		107
HP:0000608	HP:0007401	Macular atrophy	1	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7			102
HP:0000608	HP:0007401	Macular atrophy	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		47
HP:0000608	HP:0007401	Macular atrophy	1	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	HP:0040283 - Occasional		14
HP:0000608	HP:0007401	Macular atrophy	1	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000608	HP:0007401	Macular atrophy	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0000608	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:0000608	HP:0007401	Macular atrophy	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000608	HP:0007401	Macular atrophy	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0000608	HP:0007401	Macular atrophy	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.		95
HP:0000608	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:0000608	HP:0200056	Macular scar	2	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13	.		57
HP:0000608	HP:0200056	Macular scar	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent		4
HP:0000608	HP:0200056	Macular scar	2	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000608	HP:0200056	Macular scar	2	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0000608	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:0000608	HP:0025094	Disciform macular scar	3	CL E G H