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:0000553	HP:0000553	Abnormal uvea morphology	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0000553	HP:0000553	Abnormal uvea morphology	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease			826
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6			94
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4			214
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus			8
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae			84
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis			84
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000553	HP:0000553	Abnormal uvea morphology	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0000553	HP:0000553	Abnormal uvea morphology	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0000553	HP:0000553	Abnormal uvea morphology	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000553	HP:0000553	Abnormal uvea morphology	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000553	HP:0000553	Abnormal uvea morphology	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ALDH1A3 CL E G H	220	409	ORPHA:35612	Nanophthalmos			10
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0000553	HP:0000553	Abnormal uvea morphology	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000553	HP:0000553	Abnormal uvea morphology	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0000553	HP:0000553	Abnormal uvea morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000553	HP:0000553	Abnormal uvea morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000553	HP:0000553	Abnormal uvea morphology	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0000553	HP:0000553	Abnormal uvea morphology	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0000553	HP:0000553	Abnormal uvea morphology	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0000553	HP:0000553	Abnormal uvea morphology	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0000553	HP:0000553	Abnormal uvea morphology	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma			18
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			182
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy			182
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BEST1 CL E G H	7439	12703	ORPHA:35612	Nanophthalmos			182
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9			35
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0000553	HP:0000553	Abnormal uvea morphology	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0000553	HP:0000553	Abnormal uvea morphology	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation			37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			8
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA			9
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia			44
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3			27
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement			42
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease			194
HP:0000553	HP:0000553	Abnormal uvea morphology	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000553	HP:0000553	Abnormal uvea morphology	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0000553	HP:0000553	Abnormal uvea morphology	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000553	HP:0000553	Abnormal uvea morphology	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0000553	HP:0000553	Abnormal uvea morphology	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0000553	HP:0000553	Abnormal uvea morphology	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000553	HP:0000553	Abnormal uvea morphology	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8			5
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CRB1 CL E G H	23418	2343	ORPHA:35612	Nanophthalmos			156
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy			156
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types			33
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CRYAA CL E G H	1409	2388	ORPHA:1377	Cataract-microcornea syndrome			33
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CRYBA4 CL E G H	1413	2396	ORPHA:1377	Cataract-microcornea syndrome			10
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CRYBB1 CL E G H	1414	2397	ORPHA:1377	Cataract-microcornea syndrome			18
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CRYBB2 CL E G H	1415	2398	ORPHA:1377	Cataract-microcornea syndrome			13
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CRYGC CL E G H	1420	2410	ORPHA:1377	Cataract-microcornea syndrome			11
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CRYGD CL E G H	1421	2411	ORPHA:1377	Cataract-microcornea syndrome			29
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000553	HP:0000553	Abnormal uvea morphology	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation			3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7			46
HP:0000553	HP:0000553	Abnormal uvea morphology	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000553	HP:0000553	Abnormal uvea morphology	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0000553	HP:0000553	Abnormal uvea morphology	0	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0000553	HP:0000553	Abnormal uvea morphology	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0000553	HP:0000553	Abnormal uvea morphology	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000553	HP:0000553	Abnormal uvea morphology	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0000553	HP:0000553	Abnormal uvea morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease			62
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000553	HP:0000553	Abnormal uvea morphology	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000553	HP:0000553	Abnormal uvea morphology	0	EPHA2 CL E G H	1969	3386	OMIM:116600	Cataract, posterior polar, 1 ctpa cataract, congenital total, included			87
HP:0000553	HP:0000553	Abnormal uvea morphology	0	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000553	HP:0000553	Abnormal uvea morphology	0	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis			1361
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD			655
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation			37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3			63
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome			63
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia			63
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2			23
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma			184
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30			26
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0000553	HP:0000553	Abnormal uvea morphology	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant			7
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GJA8 CL E G H	2703	4281	ORPHA:1377	Cataract-microcornea syndrome			34
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome			7
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I			64
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism			64
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4			33
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy			24
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy			124
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GUCY2D CL E G H	3000	4689	OMIM:215500	Choroidal dystrophy, central areolar 1			124
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000553	HP:0000553	Abnormal uvea morphology	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0000553	HP:0000553	Abnormal uvea morphology	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000553	HP:0000553	Abnormal uvea morphology	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma			7
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			65
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			120
HP:0000553	HP:0000553	Abnormal uvea morphology	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0000553	HP:0000553	Abnormal uvea morphology	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000553	HP:0000553	Abnormal uvea morphology	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000553	HP:0000553	Abnormal uvea morphology	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			177
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome			177
HP:0000553	HP:0000553	Abnormal uvea morphology	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait			327
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation			92
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome			3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma			123
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome			239
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0000553	HP:0000553	Abnormal uvea morphology	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types			21
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAF CL E G H	4094	6776	ORPHA:1377	Cataract-microcornea syndrome			21
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma			6
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000553	HP:0000553	Abnormal uvea morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MFRP CL E G H	83552	18121	ORPHA:35612	Nanophthalmos			26
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MLPH CL E G H	79083	29643	ORPHA:79478	Griscelli syndrome type 3			7
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4			418
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MYO5A CL E G H	4644	7602	ORPHA:79478	Griscelli syndrome type 3			35
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MYOC CL E G H	4653	7610	OMIM:137750	Glaucoma 1, open angle, A			47
HP:0000553	HP:0000553	Abnormal uvea morphology	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NDP CL E G H	4693	7678	ORPHA:190	Coats disease			39
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000553	HP:0000553	Abnormal uvea morphology	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000553	HP:0000553	Abnormal uvea morphology	0	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000553	HP:0000553	Abnormal uvea morphology	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency			94
HP:0000553	HP:0000553	Abnormal uvea morphology	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0000553	HP:0000553	Abnormal uvea morphology	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0000553	HP:0000553	Abnormal uvea morphology	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0000553	HP:0000553	Abnormal uvea morphology	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0000553	HP:0000553	Abnormal uvea morphology	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0000553	HP:0000553	Abnormal uvea morphology	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0000553	HP:0000553	Abnormal uvea morphology	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000553	HP:0000553	Abnormal uvea morphology	0	OTX2 CL E G H	5015	8522	ORPHA:35612	Nanophthalmos			41
HP:0000553	HP:0000553	Abnormal uvea morphology	0	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			194
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes			194
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis			194
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia			194
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation			21
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome			86
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4			51
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome			51
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1			51
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PNPLA6 CL E G H	10908	16268	ORPHA:1180	Ataxia-hypogonadism-choroidal dystrophy syndrome			103
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000553	HP:0000553	Abnormal uvea morphology	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease			110
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			159
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy			159
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRPH2 CL E G H	5961	9942	OMIM:613105	Choroidal dystrophy, central areolar 2			159
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1			159
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3			159
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease			159
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PRSS56 CL E G H	646960	39433	ORPHA:35612	Nanophthalmos			11
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome			665
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome			40
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RAX CL E G H	30062	18662	ORPHA:35612	Nanophthalmos			43
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA			365
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10			8
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome			8
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000553	HP:0000553	Abnormal uvea morphology	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism			10
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5			67
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SIX6 CL E G H	4990	10892	ORPHA:35612	Nanophthalmos			20
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy			20
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6			12
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			174
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome			22
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait			19
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D			19
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SOX2 CL E G H	6657	11195	ORPHA:35612	Nanophthalmos			33
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0000553	HP:0000553	Abnormal uvea morphology	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0000553	HP:0000553	Abnormal uvea morphology	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0000553	HP:0000553	Abnormal uvea morphology	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0000553	HP:0000553	Abnormal uvea morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome			124
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0000553	HP:0000553	Abnormal uvea morphology	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy			95
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy			95
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TMEM98 CL E G H	26022	24529	ORPHA:35612	Nanophthalmos			3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation			140
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3			14
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A			146
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0000553	HP:0000553	Abnormal uvea morphology	0	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0000553	HP:0000553	Abnormal uvea morphology	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000553	HP:0000553	Abnormal uvea morphology	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0000553	HP:0000553	Abnormal uvea morphology	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0000553	HP:0000553	Abnormal uvea morphology	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0000553	HP:0000553	Abnormal uvea morphology	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0000553	HP:0000553	Abnormal uvea morphology	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0000553	HP:0000553	Abnormal uvea morphology	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000553	HP:0000553	Abnormal uvea morphology	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000553	HP:0000553	Abnormal uvea morphology	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000553	HP:0000553	Abnormal uvea morphology	0	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy			180
HP:0000553	HP:0000553	Abnormal uvea morphology	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000553	HP:0000553	Abnormal uvea morphology	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000553	HP:0000553	Abnormal uvea morphology	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0000553	HP:0000553	Abnormal uvea morphology	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0000553	HP:0000553	Abnormal uvea morphology	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000553	HP:0000553	Abnormal uvea morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000553	HP:0000553	Abnormal uvea morphology	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000553	HP:0000553	Abnormal uvea morphology	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000553	HP:0000553	Abnormal uvea morphology	0	VSX2 CL E G H	338917	1975	OMIM:610092	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3			66
HP:0000553	HP:0000553	Abnormal uvea morphology	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000553	HP:0000553	Abnormal uvea morphology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0000553	HP:0000553	Abnormal uvea morphology	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000553	HP:0000553	Abnormal uvea morphology	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000553	HP:0000553	Abnormal uvea morphology	0	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation			4
HP:0000553	HP:0000553	Abnormal uvea morphology	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0000553	HP:0000553	Abnormal uvea morphology	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000553	HP:0000553	Abnormal uvea morphology	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0000553	HP:0000553	Abnormal uvea morphology	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0000553	HP:0000553	Abnormal uvea morphology	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0000553	HP:0000553	Abnormal uvea morphology	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0000553	HP:0000553	Abnormal uvea morphology	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0000553	HP:0000553	Abnormal uvea morphology	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0000553	HP:0000553	Abnormal uvea morphology	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000553	HP:0000553	Abnormal uvea morphology	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6			14
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0000553	HP:0000553	Abnormal uvea morphology	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000553	HP:0000525	Abnormality iris morphology	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0000553	HP:0000525	Abnormality iris morphology	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		826
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0000553	HP:0000525	Abnormality iris morphology	1	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6			94
HP:0000553	HP:0000525	Abnormality iris morphology	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		94
HP:0000553	HP:0000525	Abnormality iris morphology	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000553	HP:0000525	Abnormality iris morphology	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000553	HP:0000525	Abnormality iris morphology	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0000553	HP:0000525	Abnormality iris morphology	1	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4			214
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus			8
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae			84
HP:0000553	HP:0000525	Abnormality iris morphology	1	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis			84
HP:0000553	HP:0000525	Abnormality iris morphology	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000553	HP:0000525	Abnormality iris morphology	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000553	HP:0000610	Abnormal choroid morphology	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0000553	HP:0000525	Abnormality iris morphology	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0000553	HP:0000525	Abnormality iris morphology	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000553	HP:0000554	Uveitis	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000553	HP:0000525	Abnormality iris morphology	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000553	HP:0000610	Abnormal choroid morphology	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ALDH1A3 CL E G H	220	409	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		10
HP:0000553	HP:0000525	Abnormality iris morphology	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0000553	HP:0000525	Abnormality iris morphology	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000553	HP:0000525	Abnormality iris morphology	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000553	HP:0000525	Abnormality iris morphology	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000553	HP:0000525	Abnormality iris morphology	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0000553	HP:0000554	Uveitis	1	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0000553	HP:0000554	Uveitis	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000553	HP:0000525	Abnormality iris morphology	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000553	HP:0000525	Abnormality iris morphology	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism			1
HP:0000553	HP:0000610	Abnormal choroid morphology	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000553	HP:0000525	Abnormality iris morphology	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0000553	HP:0000525	Abnormality iris morphology	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000553	HP:0000525	Abnormality iris morphology	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs			4
HP:0000553	HP:0000525	Abnormality iris morphology	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000553	HP:0000554	Uveitis	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	HP:0040283 - Occasional		4
HP:0000553	HP:0000525	Abnormality iris morphology	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000553	HP:0000525	Abnormality iris morphology	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0000553	HP:0000525	Abnormality iris morphology	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0000553	HP:0000525	Abnormality iris morphology	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0000553	HP:0000610	Abnormal choroid morphology	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0000553	HP:0000525	Abnormality iris morphology	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000553	HP:0000525	Abnormality iris morphology	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000553	HP:0000610	Abnormal choroid morphology	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0000553	HP:0000525	Abnormality iris morphology	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0000553	HP:0000525	Abnormality iris morphology	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0000553	HP:0000525	Abnormality iris morphology	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0000553	HP:0000610	Abnormal choroid morphology	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0000553	HP:0000525	Abnormality iris morphology	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0000553	HP:0000610	Abnormal choroid morphology	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0000553	HP:0000525	Abnormality iris morphology	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0000553	HP:0012776	Abnormal ciliary body morphology	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0000553	HP:0000525	Abnormality iris morphology	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000553	HP:0000554	Uveitis	1	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma			18
HP:0000553	HP:0000525	Abnormality iris morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000553	HP:0000610	Abnormal choroid morphology	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000553	HP:0000610	Abnormal choroid morphology	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000553	HP:0000525	Abnormality iris morphology	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000553	HP:0000525	Abnormality iris morphology	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000553	HP:0000525	Abnormality iris morphology	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0000553	HP:0000525	Abnormality iris morphology	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0000553	HP:0000525	Abnormality iris morphology	1	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			182
HP:0000553	HP:0000610	Abnormal choroid morphology	1	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			182
HP:0000553	HP:0000610	Abnormal choroid morphology	1	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy			182
HP:0000553	HP:0000610	Abnormal choroid morphology	1	BEST1 CL E G H	7439	12703	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		182
HP:0000553	HP:0000610	Abnormal choroid morphology	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0000553	HP:0000554	Uveitis	1	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0000553	HP:0000554	Uveitis	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional		314
HP:0000553	HP:0000525	Abnormality iris morphology	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000553	HP:0000525	Abnormality iris morphology	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000553	HP:0000525	Abnormality iris morphology	1	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9			35
HP:0000553	HP:0000610	Abnormal choroid morphology	1	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0000553	HP:0000525	Abnormality iris morphology	1	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0000553	HP:0000525	Abnormality iris morphology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0000553	HP:0000525	Abnormality iris morphology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0000553	HP:0000525	Abnormality iris morphology	1	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0000553	HP:0000525	Abnormality iris morphology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0000553	HP:0000554	Uveitis	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		1
HP:0000553	HP:0000554	Uveitis	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2	.		1
HP:0000553	HP:0000525	Abnormality iris morphology	1	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation			2
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation			2
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000553	HP:0000610	Abnormal choroid morphology	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0000553	HP:0000525	Abnormality iris morphology	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0000553	HP:0000525	Abnormality iris morphology	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0000553	HP:0000610	Abnormal choroid morphology	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0000553	HP:0000610	Abnormal choroid morphology	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000553	HP:0000525	Abnormality iris morphology	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000553	HP:0000554	Uveitis	1	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.		6
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000553	HP:0000554	Uveitis	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		87
HP:0000553	HP:0000525	Abnormality iris morphology	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000553	HP:0000525	Abnormality iris morphology	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0000553	HP:0000525	Abnormality iris morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000553	HP:0000525	Abnormality iris morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0000553	HP:0000525	Abnormality iris morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0000553	HP:0000525	Abnormality iris morphology	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation			37
HP:0000553	HP:0000554	Uveitis	1	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		8
HP:0000553	HP:0000554	Uveitis	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0000553	HP:0000554	Uveitis	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0000553	HP:0000525	Abnormality iris morphology	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000553	HP:0000525	Abnormality iris morphology	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0000553	HP:0000525	Abnormality iris morphology	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0000553	HP:0000525	Abnormality iris morphology	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0000553	HP:0000525	Abnormality iris morphology	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0000553	HP:0000525	Abnormality iris morphology	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000553	HP:0000525	Abnormality iris morphology	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000553	HP:0000525	Abnormality iris morphology	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0000553	HP:0000525	Abnormality iris morphology	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0000553	HP:0000525	Abnormality iris morphology	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000553	HP:0000525	Abnormality iris morphology	1	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0000553	HP:0000525	Abnormality iris morphology	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000553	HP:0000525	Abnormality iris morphology	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0000553	HP:0000525	Abnormality iris morphology	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000553	HP:0000525	Abnormality iris morphology	1	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA			9
HP:0000553	HP:0000525	Abnormality iris morphology	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia			44
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.		27
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement			42
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		194
HP:0000553	HP:0000525	Abnormality iris morphology	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000553	HP:0000610	Abnormal choroid morphology	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000553	HP:0000525	Abnormality iris morphology	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000553	HP:0000525	Abnormality iris morphology	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000553	HP:0000610	Abnormal choroid morphology	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0000553	HP:0000525	Abnormality iris morphology	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0000553	HP:0000610	Abnormal choroid morphology	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000553	HP:0000525	Abnormality iris morphology	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000553	HP:0000525	Abnormality iris morphology	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0000553	HP:0000610	Abnormal choroid morphology	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000553	HP:0000525	Abnormality iris morphology	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8			5
HP:0000553	HP:0000525	Abnormality iris morphology	1	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8			5
HP:0000553	HP:0000525	Abnormality iris morphology	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CRB1 CL E G H	23418	2343	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		156
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy			156
HP:0000553	HP:0000525	Abnormality iris morphology	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000553	HP:0000525	Abnormality iris morphology	1	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types			33
HP:0000553	HP:0000525	Abnormality iris morphology	1	CRYAA CL E G H	1409	2388	ORPHA:1377	Cataract-microcornea syndrome			33
HP:0000553	HP:0000525	Abnormality iris morphology	1	CRYBA4 CL E G H	1413	2396	ORPHA:1377	Cataract-microcornea syndrome			10
HP:0000553	HP:0000525	Abnormality iris morphology	1	CRYBB1 CL E G H	1414	2397	ORPHA:1377	Cataract-microcornea syndrome			18
HP:0000553	HP:0000525	Abnormality iris morphology	1	CRYBB2 CL E G H	1415	2398	ORPHA:1377	Cataract-microcornea syndrome			13
HP:0000553	HP:0000525	Abnormality iris morphology	1	CRYGC CL E G H	1420	2410	ORPHA:1377	Cataract-microcornea syndrome			11
HP:0000553	HP:0000525	Abnormality iris morphology	1	CRYGD CL E G H	1421	2411	ORPHA:1377	Cataract-microcornea syndrome			29
HP:0000553	HP:0000525	Abnormality iris morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0000553	HP:0000525	Abnormality iris morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0000553	HP:0000525	Abnormality iris morphology	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0000553	HP:0000525	Abnormality iris morphology	1	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		101
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000553	HP:0000610	Abnormal choroid morphology	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000553	HP:0012776	Abnormal ciliary body morphology	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0000553	HP:0000610	Abnormal choroid morphology	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0000553	HP:0000610	Abnormal choroid morphology	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0000553	HP:0000525	Abnormality iris morphology	1	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000553	HP:0000610	Abnormal choroid morphology	1	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000553	HP:0000525	Abnormality iris morphology	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000553	HP:0000525	Abnormality iris morphology	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000553	HP:0000610	Abnormal choroid morphology	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0000553	HP:0000525	Abnormality iris morphology	1	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0000553	HP:0000525	Abnormality iris morphology	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0000553	HP:0000525	Abnormality iris morphology	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000553	HP:0000525	Abnormality iris morphology	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation			3
HP:0000553	HP:0000525	Abnormality iris morphology	1	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation			3
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000553	HP:0000525	Abnormality iris morphology	1	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000553	HP:0000554	Uveitis	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent		3
HP:0000553	HP:0000610	Abnormal choroid morphology	1	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000553	HP:0000525	Abnormality iris morphology	1	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7			46
HP:0000553	HP:0000525	Abnormality iris morphology	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000553	HP:0000525	Abnormality iris morphology	1	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0000553	HP:0000525	Abnormality iris morphology	1	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0000553	HP:0000525	Abnormality iris morphology	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0000553	HP:0000610	Abnormal choroid morphology	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000553	HP:0000525	Abnormality iris morphology	1	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		54
HP:0000553	HP:0000525	Abnormality iris morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		172
HP:0000553	HP:0000525	Abnormality iris morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000553	HP:0000525	Abnormality iris morphology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		62
HP:0000553	HP:0000525	Abnormality iris morphology	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0000553	HP:0000525	Abnormality iris morphology	1	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000553	HP:0000525	Abnormality iris morphology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000553	HP:0000610	Abnormal choroid morphology	1	EPHA2 CL E G H	1969	3386	OMIM:116600	Cataract, posterior polar, 1 ctpa cataract, congenital total, included			87
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000553	HP:0000525	Abnormality iris morphology	1	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000553	HP:0000554	Uveitis	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0000553	HP:0000554	Uveitis	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0000553	HP:0000525	Abnormality iris morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0000553	HP:0000554	Uveitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0000553	HP:0000554	Uveitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000553	HP:0000525	Abnormality iris morphology	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000553	HP:0000554	Uveitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0000553	HP:0000554	Uveitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0000553	HP:0000525	Abnormality iris morphology	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000553	HP:0000525	Abnormality iris morphology	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000553	HP:0000610	Abnormal choroid morphology	1	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000553	HP:0000525	Abnormality iris morphology	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0000553	HP:0000525	Abnormality iris morphology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0000553	HP:0000525	Abnormality iris morphology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0000553	HP:0000525	Abnormality iris morphology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0000553	HP:0000525	Abnormality iris morphology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0000553	HP:0000525	Abnormality iris morphology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0000553	HP:0000525	Abnormality iris morphology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0000553	HP:0000525	Abnormality iris morphology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0000553	HP:0000525	Abnormality iris morphology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0000553	HP:0000525	Abnormality iris morphology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0000553	HP:0000525	Abnormality iris morphology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0000553	HP:0000554	Uveitis	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		59
HP:0000553	HP:0000554	Uveitis	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		37
HP:0000553	HP:0000610	Abnormal choroid morphology	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0000553	HP:0000610	Abnormal choroid morphology	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0000553	HP:0000525	Abnormality iris morphology	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		1361
HP:0000553	HP:0000525	Abnormality iris morphology	1	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis			1361
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000553	HP:0000525	Abnormality iris morphology	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000553	HP:0000525	Abnormality iris morphology	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0000553	HP:0000525	Abnormality iris morphology	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000553	HP:0000610	Abnormal choroid morphology	1	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD			655
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation			37
HP:0000553	HP:0000525	Abnormality iris morphology	1	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation			37
HP:0000553	HP:0000525	Abnormality iris morphology	1	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000553	HP:0000525	Abnormality iris morphology	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0000553	HP:0000525	Abnormality iris morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0000553	HP:0000525	Abnormality iris morphology	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0000553	HP:0000525	Abnormality iris morphology	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0000553	HP:0000525	Abnormality iris morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0000553	HP:0000525	Abnormality iris morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000553	HP:0000525	Abnormality iris morphology	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000553	HP:0000525	Abnormality iris morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		157
HP:0000553	HP:0000525	Abnormality iris morphology	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0000553	HP:0000610	Abnormal choroid morphology	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0000553	HP:0000610	Abnormal choroid morphology	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0000553	HP:0000525	Abnormality iris morphology	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0000553	HP:0000525	Abnormality iris morphology	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000553	HP:0000525	Abnormality iris morphology	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0000553	HP:0000525	Abnormality iris morphology	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0000553	HP:0000525	Abnormality iris morphology	1	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3			63
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3			63
HP:0000553	HP:0000525	Abnormality iris morphology	1	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome			63
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome			63
HP:0000553	HP:0000525	Abnormality iris morphology	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia			63
HP:0000553	HP:0000525	Abnormality iris morphology	1	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia			63
HP:0000553	HP:0000525	Abnormality iris morphology	1	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2			23
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2			23
HP:0000553	HP:0000525	Abnormality iris morphology	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		23
HP:0000553	HP:0000525	Abnormality iris morphology	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0000553	HP:0000554	Uveitis	1	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma			184
HP:0000553	HP:0000610	Abnormal choroid morphology	1	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30			26
HP:0000553	HP:0000610	Abnormal choroid morphology	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0000553	HP:0000525	Abnormality iris morphology	1	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000553	HP:0000525	Abnormality iris morphology	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000553	HP:0000525	Abnormality iris morphology	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000553	HP:0000525	Abnormality iris morphology	1	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant			7
HP:0000553	HP:0000610	Abnormal choroid morphology	1	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant			7
HP:0000553	HP:0000525	Abnormality iris morphology	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0000553	HP:0000525	Abnormality iris morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0000553	HP:0000525	Abnormality iris morphology	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000553	HP:0000525	Abnormality iris morphology	1	GJA8 CL E G H	2703	4281	ORPHA:1377	Cataract-microcornea syndrome			34
HP:0000553	HP:0000525	Abnormality iris morphology	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0000553	HP:0000525	Abnormality iris morphology	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000553	HP:0000525	Abnormality iris morphology	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0000553	HP:0000525	Abnormality iris morphology	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		34
HP:0000553	HP:0000525	Abnormality iris morphology	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0000553	HP:0000525	Abnormality iris morphology	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0000553	HP:0012776	Abnormal ciliary body morphology	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0000553	HP:0000610	Abnormal choroid morphology	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0000553	HP:0000525	Abnormality iris morphology	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000553	HP:0000610	Abnormal choroid morphology	1	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome			7
HP:0000553	HP:0012776	Abnormal ciliary body morphology	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0000553	HP:0000525	Abnormality iris morphology	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0000553	HP:0000525	Abnormality iris morphology	1	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0000553	HP:0000525	Abnormality iris morphology	1	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I			64
HP:0000553	HP:0000525	Abnormality iris morphology	1	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism			64
HP:0000553	HP:0000554	Uveitis	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare		2
HP:0000553	HP:0000525	Abnormality iris morphology	1	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4			33
HP:0000553	HP:0000525	Abnormality iris morphology	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000553	HP:0000610	Abnormal choroid morphology	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000553	HP:0000525	Abnormality iris morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0000610	Abnormal choroid morphology	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy			24
HP:0000553	HP:0000610	Abnormal choroid morphology	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy			124
HP:0000553	HP:0000610	Abnormal choroid morphology	1	GUCY2D CL E G H	3000	4689	OMIM:215500	Choroidal dystrophy, central areolar 1			124
HP:0000553	HP:0000610	Abnormal choroid morphology	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000553	HP:0000610	Abnormal choroid morphology	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0000553	HP:0000525	Abnormality iris morphology	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0000553	HP:0000525	Abnormality iris morphology	1	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0000553	HP:0000610	Abnormal choroid morphology	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0000553	HP:0000525	Abnormality iris morphology	1	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000553	HP:0000610	Abnormal choroid morphology	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000553	HP:0000525	Abnormality iris morphology	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0000553	HP:0000525	Abnormality iris morphology	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0000553	HP:0000525	Abnormality iris morphology	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000553	HP:0000525	Abnormality iris morphology	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000553	HP:0000610	Abnormal choroid morphology	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0000553	HP:0000610	Abnormal choroid morphology	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent		4
HP:0000553	HP:0000554	Uveitis	1	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1			4
HP:0000553	HP:0000554	Uveitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		2
HP:0000553	HP:0000610	Abnormal choroid morphology	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0000553	HP:0000554	Uveitis	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.		2
HP:0000553	HP:0000554	Uveitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0000553	HP:0000610	Abnormal choroid morphology	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000553	HP:0000610	Abnormal choroid morphology	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0000553	HP:0000525	Abnormality iris morphology	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0000553	HP:0000525	Abnormality iris morphology	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000553	HP:0000525	Abnormality iris morphology	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0000553	HP:0000525	Abnormality iris morphology	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0000553	HP:0000525	Abnormality iris morphology	1	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000553	HP:0000525	Abnormality iris morphology	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000553	HP:0000525	Abnormality iris morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000553	HP:0000525	Abnormality iris morphology	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0000553	HP:0000610	Abnormal choroid morphology	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0000553	HP:0000525	Abnormality iris morphology	1	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0000553	HP:0000525	Abnormality iris morphology	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000553	HP:0000525	Abnormality iris morphology	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000553	HP:0000554	Uveitis	1	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma			7
HP:0000553	HP:0000610	Abnormal choroid morphology	1	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0000553	HP:0000554	Uveitis	1	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0000553	HP:0000610	Abnormal choroid morphology	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0000553	HP:0000554	Uveitis	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0000553	HP:0000554	Uveitis	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0000553	HP:0000554	Uveitis	1	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		65
HP:0000553	HP:0000554	Uveitis	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0000553	HP:0000554	Uveitis	1	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0000553	HP:0000554	Uveitis	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000553	HP:0000554	Uveitis	1	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0000553	HP:0000610	Abnormal choroid morphology	1	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			4
HP:0000553	HP:0000525	Abnormality iris morphology	1	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			4
HP:0000553	HP:0000525	Abnormality iris morphology	1	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			120
HP:0000553	HP:0000610	Abnormal choroid morphology	1	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			120
HP:0000553	HP:0000525	Abnormality iris morphology	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0000553	HP:0000610	Abnormal choroid morphology	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000553	HP:0000610	Abnormal choroid morphology	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000553	HP:0000525	Abnormality iris morphology	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000553	HP:0000525	Abnormality iris morphology	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000553	HP:0000525	Abnormality iris morphology	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000554	Uveitis	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040282 - Frequent		1
HP:0000553	HP:0000525	Abnormality iris morphology	1	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			177
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			177
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome			177
HP:0000553	HP:0000525	Abnormality iris morphology	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome			177
HP:0000553	HP:0000610	Abnormal choroid morphology	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000553	HP:0000525	Abnormality iris morphology	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000553	HP:0000525	Abnormality iris morphology	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0000553	HP:0000525	Abnormality iris morphology	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0000553	HP:0000610	Abnormal choroid morphology	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000553	HP:0000610	Abnormal choroid morphology	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000553	HP:0000525	Abnormality iris morphology	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000553	HP:0000525	Abnormality iris morphology	1	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait			327
HP:0000553	HP:0000525	Abnormality iris morphology	1	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0000553	HP:0000525	Abnormality iris morphology	1	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000553	HP:0000525	Abnormality iris morphology	1	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0000553	HP:0000525	Abnormality iris morphology	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0000553	HP:0000525	Abnormality iris morphology	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0000553	HP:0000610	Abnormal choroid morphology	1	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation			92
HP:0000553	HP:0000525	Abnormality iris morphology	1	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0000553	HP:0000554	Uveitis	1	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0000553	HP:0012776	Abnormal ciliary body morphology	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000553	HP:0000525	Abnormality iris morphology	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000553	HP:0000525	Abnormality iris morphology	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0000553	HP:0000610	Abnormal choroid morphology	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0000553	HP:0000610	Abnormal choroid morphology	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0000553	HP:0000525	Abnormality iris morphology	1	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0000553	HP:0000525	Abnormality iris morphology	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0000553	HP:0000525	Abnormality iris morphology	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0000553	HP:0000525	Abnormality iris morphology	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0000553	HP:0000610	Abnormal choroid morphology	1	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal
HP:0000553	HP:0000525	Abnormality iris morphology	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		6
HP:0000553	HP:0000525	Abnormality iris morphology	1	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome			3
HP:0000553	HP:0000525	Abnormality iris morphology	1	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0000553	HP:0000610	Abnormal choroid morphology	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000553	HP:0000554	Uveitis	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0000553	HP:0000525	Abnormality iris morphology	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000553	HP:0000525	Abnormality iris morphology	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000553	HP:0000610	Abnormal choroid morphology	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0000553	HP:0000525	Abnormality iris morphology	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0000553	HP:0000525	Abnormality iris morphology	1	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma			123
HP:0000553	HP:0000525	Abnormality iris morphology	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome			239
HP:0000553	HP:0000525	Abnormality iris morphology	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0000553	HP:0000525	Abnormality iris morphology	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types			21
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAF CL E G H	4094	6776	ORPHA:1377	Cataract-microcornea syndrome			21
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000553	HP:0000610	Abnormal choroid morphology	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000553	HP:0000610	Abnormal choroid morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0000553	HP:0000554	Uveitis	1	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma			6
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000553	HP:0000610	Abnormal choroid morphology	1	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		13
HP:0000553	HP:0000525	Abnormality iris morphology	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000553	HP:0000525	Abnormality iris morphology	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0000553	HP:0000554	Uveitis	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0000553	HP:0000525	Abnormality iris morphology	1	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0000553	HP:0000525	Abnormality iris morphology	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0000553	HP:0000525	Abnormality iris morphology	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000553	HP:0000525	Abnormality iris morphology	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		11
HP:0000553	HP:0000610	Abnormal choroid morphology	1	MFRP CL E G H	83552	18121	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		26
HP:0000553	HP:0000610	Abnormal choroid morphology	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000553	HP:0000554	Uveitis	1	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0000553	HP:0000525	Abnormality iris morphology	1	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000553	HP:0000525	Abnormality iris morphology	1	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000553	HP:0000525	Abnormality iris morphology	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000553	HP:0000525	Abnormality iris morphology	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0000553	HP:0000525	Abnormality iris morphology	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000553	HP:0000610	Abnormal choroid morphology	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0000553	HP:0000525	Abnormality iris morphology	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0000553	HP:0000525	Abnormality iris morphology	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000553	HP:0000525	Abnormality iris morphology	1	MLPH CL E G H	79083	29643	ORPHA:79478	Griscelli syndrome type 3			7
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0000553	HP:0000525	Abnormality iris morphology	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000553	HP:0000525	Abnormality iris morphology	1	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0000553	HP:0000525	Abnormality iris morphology	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0000553	HP:0000554	Uveitis	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare		1
HP:0000553	HP:0000525	Abnormality iris morphology	1	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000553	HP:0000525	Abnormality iris morphology	1	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4			418
HP:0000553	HP:0000525	Abnormality iris morphology	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		418
HP:0000553	HP:0000525	Abnormality iris morphology	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		326
HP:0000553	HP:0000525	Abnormality iris morphology	1	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0000553	HP:0000525	Abnormality iris morphology	1	MYO5A CL E G H	4644	7602	ORPHA:79478	Griscelli syndrome type 3			35
HP:0000553	HP:0000525	Abnormality iris morphology	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000553	HP:0000525	Abnormality iris morphology	1	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000553	HP:0000525	Abnormality iris morphology	1	MYOC CL E G H	4653	7610	OMIM:137750	Glaucoma 1, open angle, A			47
HP:0000553	HP:0000525	Abnormality iris morphology	1	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		47
HP:0000553	HP:0000525	Abnormality iris morphology	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000553	HP:0000610	Abnormal choroid morphology	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000553	HP:0000610	Abnormal choroid morphology	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000553	HP:0000525	Abnormality iris morphology	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000553	HP:0000525	Abnormality iris morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000553	HP:0000610	Abnormal choroid morphology	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000553	HP:0000525	Abnormality iris morphology	1	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0000553	HP:0000525	Abnormality iris morphology	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000553	HP:0000525	Abnormality iris morphology	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000553	HP:0000525	Abnormality iris morphology	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000553	HP:0000525	Abnormality iris morphology	1	NDP CL E G H	4693	7678	ORPHA:190	Coats disease			39
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	NDP CL E G H	4693	7678	ORPHA:190	Coats disease			39
HP:0000553	HP:0000610	Abnormal choroid morphology	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000553	HP:0000610	Abnormal choroid morphology	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000553	HP:0000525	Abnormality iris morphology	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000553	HP:0000525	Abnormality iris morphology	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000553	HP:0000525	Abnormality iris morphology	1	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000553	HP:0000610	Abnormal choroid morphology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000553	HP:0000525	Abnormality iris morphology	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0000553	HP:0000525	Abnormality iris morphology	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000553	HP:0000610	Abnormal choroid morphology	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000553	HP:0000525	Abnormality iris morphology	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000553	HP:0000525	Abnormality iris morphology	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0000553	HP:0000525	Abnormality iris morphology	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0000553	HP:0000525	Abnormality iris morphology	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0000553	HP:0000525	Abnormality iris morphology	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0000553	HP:0000554	Uveitis	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0000553	HP:0000554	Uveitis	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent		217
HP:0000553	HP:0000554	Uveitis	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0000553	HP:0000554	Uveitis	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0000553	HP:0000554	Uveitis	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent		217
HP:0000553	HP:0000610	Abnormal choroid morphology	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0000553	HP:0000554	Uveitis	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0000553	HP:0000525	Abnormality iris morphology	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0000553	HP:0000554	Uveitis	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0000553	HP:0000525	Abnormality iris morphology	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0000553	HP:0000525	Abnormality iris morphology	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0000553	HP:0000525	Abnormality iris morphology	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000553	HP:0000525	Abnormality iris morphology	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0000553	HP:0000525	Abnormality iris morphology	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0000553	HP:0000610	Abnormal choroid morphology	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000553	HP:0000525	Abnormality iris morphology	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000553	HP:0000525	Abnormality iris morphology	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000553	HP:0000610	Abnormal choroid morphology	1	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000553	HP:0000610	Abnormal choroid morphology	1	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency			94
HP:0000553	HP:0000525	Abnormality iris morphology	1	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0000553	HP:0000525	Abnormality iris morphology	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0000553	HP:0000525	Abnormality iris morphology	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0000553	HP:0000525	Abnormality iris morphology	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0000553	HP:0000525	Abnormality iris morphology	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0000553	HP:0000525	Abnormality iris morphology	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0000553	HP:0000610	Abnormal choroid morphology	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000553	HP:0000525	Abnormality iris morphology	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000553	HP:0000610	Abnormal choroid morphology	1	OTX2 CL E G H	5015	8522	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		41
HP:0000553	HP:0000525	Abnormality iris morphology	1	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1			4
HP:0000553	HP:0000525	Abnormality iris morphology	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000553	HP:0000610	Abnormal choroid morphology	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0000553	HP:0000525	Abnormality iris morphology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000553	HP:0000525	Abnormality iris morphology	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000553	HP:0000525	Abnormality iris morphology	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000553	HP:0000525	Abnormality iris morphology	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0000553	HP:0000525	Abnormality iris morphology	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000553	HP:0000525	Abnormality iris morphology	1	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			194
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			194
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes			194
HP:0000553	HP:0000525	Abnormality iris morphology	1	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes			194
HP:0000553	HP:0000525	Abnormality iris morphology	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis			194
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis			194
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000553	HP:0000525	Abnormality iris morphology	1	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia			194
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia			194
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0000553	HP:0000525	Abnormality iris morphology	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0000553	HP:0000525	Abnormality iris morphology	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0000553	HP:0000525	Abnormality iris morphology	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0000553	HP:0000525	Abnormality iris morphology	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000553	HP:0000525	Abnormality iris morphology	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation			21
HP:0000553	HP:0000525	Abnormality iris morphology	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0000553	HP:0000525	Abnormality iris morphology	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0000553	HP:0000525	Abnormality iris morphology	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000553	HP:0000525	Abnormality iris morphology	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000553	HP:0000525	Abnormality iris morphology	1	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome			86
HP:0000553	HP:0000525	Abnormality iris morphology	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0000553	HP:0000525	Abnormality iris morphology	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000553	HP:0000525	Abnormality iris morphology	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0000553	HP:0000525	Abnormality iris morphology	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0000553	HP:0000525	Abnormality iris morphology	1	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4			51
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4			51
HP:0000553	HP:0000525	Abnormality iris morphology	1	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome			51
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome			51
HP:0000553	HP:0000525	Abnormality iris morphology	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1			51
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1			51
HP:0000553	HP:0000525	Abnormality iris morphology	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PNPLA6 CL E G H	10908	16268	ORPHA:1180	Ataxia-hypogonadism-choroidal dystrophy syndrome			103
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000553	HP:0000525	Abnormality iris morphology	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000553	HP:0000525	Abnormality iris morphology	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0000553	HP:0000525	Abnormality iris morphology	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000553	HP:0000525	Abnormality iris morphology	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000553	HP:0000525	Abnormality iris morphology	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000553	HP:0000525	Abnormality iris morphology	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000553	HP:0000525	Abnormality iris morphology	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		180
HP:0000553	HP:0000610	Abnormal choroid morphology	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0000553	HP:0000525	Abnormality iris morphology	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0000553	HP:0000610	Abnormal choroid morphology	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0000553	HP:0000525	Abnormality iris morphology	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0000553	HP:0000525	Abnormality iris morphology	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		18
HP:0000553	HP:0000610	Abnormal choroid morphology	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0000553	HP:0000525	Abnormality iris morphology	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0000553	HP:0000525	Abnormality iris morphology	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		213
HP:0000553	HP:0000525	Abnormality iris morphology	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0000553	HP:0000610	Abnormal choroid morphology	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0000553	HP:0000525	Abnormality iris morphology	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		221
HP:0000553	HP:0000525	Abnormality iris morphology	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0000553	HP:0000525	Abnormality iris morphology	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0000553	HP:0000610	Abnormal choroid morphology	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000553	HP:0000525	Abnormality iris morphology	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000553	HP:0000525	Abnormality iris morphology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000553	HP:0000610	Abnormal choroid morphology	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000553	HP:0000525	Abnormality iris morphology	1	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000553	HP:0000525	Abnormality iris morphology	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000553	HP:0000525	Abnormality iris morphology	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0000553	HP:0000554	Uveitis	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		10
HP:0000553	HP:0000525	Abnormality iris morphology	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		41
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		110
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			159
HP:0000553	HP:0000525	Abnormality iris morphology	1	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			159
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy			159
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PRPH2 CL E G H	5961	9942	OMIM:613105	Choroidal dystrophy, central areolar 2			159
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1			159
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3			159
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		159
HP:0000553	HP:0000525	Abnormality iris morphology	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PRSS56 CL E G H	646960	39433	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		11
HP:0000553	HP:0000525	Abnormality iris morphology	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0000553	HP:0000525	Abnormality iris morphology	1	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome			665
HP:0000553	HP:0000525	Abnormality iris morphology	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000553	HP:0000525	Abnormality iris morphology	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0000553	HP:0000525	Abnormality iris morphology	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0000553	HP:0000525	Abnormality iris morphology	1	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome			40
HP:0000553	HP:0000610	Abnormal choroid morphology	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000553	HP:0000525	Abnormality iris morphology	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000553	HP:0000525	Abnormality iris morphology	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0000553	HP:0000554	Uveitis	1	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0000553	HP:0000554	Uveitis	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000553	HP:0000554	Uveitis	1	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		3
HP:0000553	HP:0000554	Uveitis	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0000553	HP:0000525	Abnormality iris morphology	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000553	HP:0000525	Abnormality iris morphology	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0000553	HP:0000525	Abnormality iris morphology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0000553	HP:0000525	Abnormality iris morphology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0000553	HP:0000554	Uveitis	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RAX CL E G H	30062	18662	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		43
HP:0000553	HP:0000525	Abnormality iris morphology	1	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14			365
HP:0000553	HP:0000525	Abnormality iris morphology	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA			365
HP:0000553	HP:0000525	Abnormality iris morphology	1	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10			8
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10			8
HP:0000553	HP:0000525	Abnormality iris morphology	1	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome			8
HP:0000553	HP:0000525	Abnormality iris morphology	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000553	HP:0000525	Abnormality iris morphology	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000553	HP:0000525	Abnormality iris morphology	1	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000553	HP:0000525	Abnormality iris morphology	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000553	HP:0000525	Abnormality iris morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000553	HP:0000525	Abnormality iris morphology	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional		47
HP:0000553	HP:0000525	Abnormality iris morphology	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism			10
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0000553	HP:0000525	Abnormality iris morphology	1	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108			1
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0000553	HP:0000525	Abnormality iris morphology	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000553	HP:0000525	Abnormality iris morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000553	HP:0000525	Abnormality iris morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0000553	HP:0000525	Abnormality iris morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0000553	HP:0000525	Abnormality iris morphology	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000553	HP:0000610	Abnormal choroid morphology	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000553	HP:0000525	Abnormality iris morphology	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000553	HP:0000525	Abnormality iris morphology	1	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000553	HP:0000525	Abnormality iris morphology	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000553	HP:0000525	Abnormality iris morphology	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000553	HP:0000525	Abnormality iris morphology	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000553	HP:0000525	Abnormality iris morphology	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000553	HP:0000525	Abnormality iris morphology	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000553	HP:0000525	Abnormality iris morphology	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000553	HP:0000525	Abnormality iris morphology	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000553	HP:0000525	Abnormality iris morphology	1	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000553	HP:0000525	Abnormality iris morphology	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000553	HP:0000554	Uveitis	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare
HP:0000553	HP:0000525	Abnormality iris morphology	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0000553	HP:0012776	Abnormal ciliary body morphology	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0000553	HP:0000525	Abnormality iris morphology	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000553	HP:0000525	Abnormality iris morphology	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0000553	HP:0000525	Abnormality iris morphology	1	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5			67
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5			67
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0000553	HP:0000525	Abnormality iris morphology	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000553	HP:0000525	Abnormality iris morphology	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0000553	HP:0000525	Abnormality iris morphology	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SIX6 CL E G H	4990	10892	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		20
HP:0000553	HP:0000525	Abnormality iris morphology	1	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy			20
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy			20
HP:0000553	HP:0000525	Abnormality iris morphology	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000553	HP:0000525	Abnormality iris morphology	1	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6			12
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000553	HP:0000525	Abnormality iris morphology	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0000553	HP:0000525	Abnormality iris morphology	1	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0000553	HP:0000525	Abnormality iris morphology	1	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0000553	HP:0000525	Abnormality iris morphology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0000553	HP:0000525	Abnormality iris morphology	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		7
HP:0000553	HP:0000525	Abnormality iris morphology	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		260
HP:0000553	HP:0000525	Abnormality iris morphology	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		504
HP:0000553	HP:0000525	Abnormality iris morphology	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			174
HP:0000553	HP:0000525	Abnormality iris morphology	1	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome			22
HP:0000553	HP:0000525	Abnormality iris morphology	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait			19
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D			19
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0000553	HP:0000525	Abnormality iris morphology	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0000553	HP:0000525	Abnormality iris morphology	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000553	HP:0000525	Abnormality iris morphology	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000553	HP:0000525	Abnormality iris morphology	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0000553	HP:0000525	Abnormality iris morphology	1	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000553	HP:0000525	Abnormality iris morphology	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000553	HP:0000525	Abnormality iris morphology	1	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0000553	HP:0000525	Abnormality iris morphology	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SOX2 CL E G H	6657	11195	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		33
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000553	HP:0000525	Abnormality iris morphology	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000553	HP:0000610	Abnormal choroid morphology	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000553	HP:0000525	Abnormality iris morphology	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000553	HP:0000525	Abnormality iris morphology	1	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome			80
HP:0000553	HP:0000554	Uveitis	1	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		2
HP:0000553	HP:0000554	Uveitis	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0000553	HP:0000525	Abnormality iris morphology	1	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0000553	HP:0000525	Abnormality iris morphology	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0000553	HP:0000554	Uveitis	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0000553	HP:0000525	Abnormality iris morphology	1	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome			124
HP:0000553	HP:0000525	Abnormality iris morphology	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0000553	HP:0000525	Abnormality iris morphology	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0000553	HP:0000525	Abnormality iris morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent		1
HP:0000553	HP:0000525	Abnormality iris morphology	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000553	HP:0000525	Abnormality iris morphology	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000553	HP:0000554	Uveitis	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare		241
HP:0000553	HP:0000525	Abnormality iris morphology	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000553	HP:0000525	Abnormality iris morphology	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0000553	HP:0000525	Abnormality iris morphology	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0000553	HP:0000525	Abnormality iris morphology	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0000553	HP:0000525	Abnormality iris morphology	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0000553	HP:0000525	Abnormality iris morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0000553	HP:0000525	Abnormality iris morphology	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000553	HP:0000525	Abnormality iris morphology	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000553	HP:0000525	Abnormality iris morphology	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000553	HP:0000525	Abnormality iris morphology	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		162
HP:0000553	HP:0000525	Abnormality iris morphology	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		85
HP:0000553	HP:0000525	Abnormality iris morphology	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		239
HP:0000553	HP:0000525	Abnormality iris morphology	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		253
HP:0000553	HP:0000525	Abnormality iris morphology	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy			95
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040282 - Frequent		95
HP:0000553	HP:0000525	Abnormality iris morphology	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0000553	HP:0000554	Uveitis	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	HP:0040283 - Occasional		4
HP:0000553	HP:0000554	Uveitis	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent		4
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0000553	HP:0000525	Abnormality iris morphology	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TMEM98 CL E G H	26022	24529	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		3
HP:0000553	HP:0000554	Uveitis	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0000553	HP:0000554	Uveitis	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0000553	HP:0000525	Abnormality iris morphology	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0000553	HP:0000525	Abnormality iris morphology	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation			140
HP:0000553	HP:0000525	Abnormality iris morphology	1	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation			140
HP:0000553	HP:0000525	Abnormality iris morphology	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0000553	HP:0000525	Abnormality iris morphology	1	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0000553	HP:0000525	Abnormality iris morphology	1	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia			1
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia			1
HP:0000553	HP:0000525	Abnormality iris morphology	1	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000553	HP:0000525	Abnormality iris morphology	1	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3			14
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0000553	HP:0000610	Abnormal choroid morphology	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0000553	HP:0000525	Abnormality iris morphology	1	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A			146
HP:0000553	HP:0000525	Abnormality iris morphology	1	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0000553	HP:0000525	Abnormality iris morphology	1	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0000553	HP:0000525	Abnormality iris morphology	1	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0000553	HP:0000525	Abnormality iris morphology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000553	HP:0000525	Abnormality iris morphology	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0000553	HP:0000525	Abnormality iris morphology	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0000553	HP:0000525	Abnormality iris morphology	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0000553	HP:0000525	Abnormality iris morphology	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0000553	HP:0000610	Abnormal choroid morphology	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0000553	HP:0000525	Abnormality iris morphology	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000553	HP:0000525	Abnormality iris morphology	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000553	HP:0000525	Abnormality iris morphology	1	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000553	HP:0000610	Abnormal choroid morphology	1	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy			180
HP:0000553	HP:0000525	Abnormality iris morphology	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000553	HP:0000610	Abnormal choroid morphology	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0000553	HP:0000525	Abnormality iris morphology	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000553	HP:0000610	Abnormal choroid morphology	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000553	HP:0000610	Abnormal choroid morphology	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0000553	HP:0000610	Abnormal choroid morphology	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000553	HP:0000525	Abnormality iris morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000553	HP:0000525	Abnormality iris morphology	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000553	HP:0000525	Abnormality iris morphology	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000553	HP:0000610	Abnormal choroid morphology	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000553	HP:0000525	Abnormality iris morphology	1	VSX2 CL E G H	338917	1975	OMIM:610092	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3			66
HP:0000553	HP:0000610	Abnormal choroid morphology	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000553	HP:0000525	Abnormality iris morphology	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0000553	HP:0000610	Abnormal choroid morphology	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0000553	HP:0000525	Abnormality iris morphology	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000553	HP:0000525	Abnormality iris morphology	1	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000553	HP:0000525	Abnormality iris morphology	1	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation			4
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation			4
HP:0000553	HP:0000525	Abnormality iris morphology	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000553	HP:0000610	Abnormal choroid morphology	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000553	HP:0000525	Abnormality iris morphology	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000553	HP:0000525	Abnormality iris morphology	1	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0000553	HP:0000525	Abnormality iris morphology	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0000553	HP:0000525	Abnormality iris morphology	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0000553	HP:0008055	Aplasia/Hypoplasia affecting the uvea	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0000553	HP:0000525	Abnormality iris morphology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0000553	HP:0000610	Abnormal choroid morphology	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0000553	HP:0000610	Abnormal choroid morphology	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0000553	HP:0000525	Abnormality iris morphology	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000553	HP:0000610	Abnormal choroid morphology	1	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000553	HP:0000525	Abnormality iris morphology	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000553	HP:0000525	Abnormality iris morphology	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000553	HP:0000525	Abnormality iris morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000553	HP:0000525	Abnormality iris morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000553	HP:0000525	Abnormality iris morphology	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6			14
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0000553	HP:0000610	Abnormal choroid morphology	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000553	HP:0000525	Abnormality iris morphology	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000553	HP:0012124	Intermediate uveitis	2	CL E G H
HP:0000553	HP:0011525	Iris nevus	2	CL E G H
HP:0000553	HP:0025314	Choroidal nevus	2	CL E G H
HP:0000553	HP:0030952	Birdshot retinochoroidopathy	2	CL E G H
HP:0000553	HP:0000615	Abnormal pupil morphology	2	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0000553	HP:0000612	Iris coloboma	2	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		57
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0000553	HP:0500007	Iris flocculi	2	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6			94
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0000553	HP:0000612	Iris coloboma	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0000553	HP:0000612	Iris coloboma	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000553	HP:0000612	Iris coloboma	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0000553	HP:0100693	Iridodonesis	2	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4	.		214
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus			8
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000553	HP:0000615	Abnormal pupil morphology	2	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae			84
HP:0000553	HP:0000615	Abnormal pupil morphology	2	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis			84
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000553	HP:0000612	Iris coloboma	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0000553	HP:0000612	Iris coloboma	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		175
HP:0000553	HP:0000612	Iris coloboma	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		175
HP:0000553	HP:0012122	Anterior uveitis	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000553	HP:0000612	Iris coloboma	2	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent		46
HP:0000553	HP:0000612	Iris coloboma	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000553	HP:0000612	Iris coloboma	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0000553	HP:0000612	Iris coloboma	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0000553	HP:0000612	Iris coloboma	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional		150
HP:0000553	HP:0012122	Anterior uveitis	2	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism			1
HP:0000553	HP:0000615	Abnormal pupil morphology	2	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		1
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000553	HP:0000612	Iris coloboma	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		62
HP:0000553	HP:0000612	Iris coloboma	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0000615	Abnormal pupil morphology	2	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0000553	HP:0000612	Iris coloboma	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000553	HP:0001089	Iris atrophy	2	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	.		4
HP:0000553	HP:0000615	Abnormal pupil morphology	2	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000553	HP:0000615	Abnormal pupil morphology	2	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000553	HP:0000612	Iris coloboma	2	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	HP:0040283 - Occasional		4
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0000553	HP:0000612	Iris coloboma	2	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.		3
HP:0000553	HP:0000612	Iris coloboma	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		43
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0000553	HP:0000612	Iris coloboma	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0000553	HP:0000612	Iris coloboma	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000553	HP:0000612	Iris coloboma	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		17
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0000553	HP:0000612	Iris coloboma	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		28
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		28
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		28
HP:0000553	HP:0000612	Iris coloboma	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		34
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		34
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		34
HP:0000553	HP:0011524	Iris melanoma	2	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		184
HP:0000553	HP:0012055	Ciliary body melanoma	2	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		184
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0012123	Posterior uveitis	2	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		18
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000553	HP:0000612	Iris coloboma	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		101
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000553	HP:0000612	Iris coloboma	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000553	HP:0000612	Iris coloboma	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000553	HP:0000612	Iris coloboma	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040281 - Very frequent		5
HP:0000553	HP:0001139	Choroideremia	2	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		182
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			182
HP:0000553	HP:0001139	Choroideremia	2	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy	HP:0040283 - Occasional		182
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0000553	HP:0012123	Posterior uveitis	2	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9			35
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0000553	HP:0000612	Iris coloboma	2	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040282 - Frequent		38
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation			2
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome			13
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0000553	HP:0000612	Iris coloboma	2	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.		13
HP:0000553	HP:0000612	Iris coloboma	2	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040281 - Very frequent		13
HP:0000553	HP:0001089	Iris atrophy	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional		20
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000553	HP:0000612	Iris coloboma	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0000553	HP:0000612	Iris coloboma	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		247
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000553	HP:0000612	Iris coloboma	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		247
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		247
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		247
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0000553	HP:0000612	Iris coloboma	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation			37
HP:0000553	HP:0012122	Anterior uveitis	2	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000553	HP:0000612	Iris coloboma	2	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		200
HP:0000553	HP:0000612	Iris coloboma	2	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.		27
HP:0000553	HP:0000612	Iris coloboma	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		5
HP:0000553	HP:0000612	Iris coloboma	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		7
HP:0000553	HP:0000612	Iris coloboma	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		7
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000553	HP:0000612	Iris coloboma	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		342
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		342
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		342
HP:0000553	HP:0000612	Iris coloboma	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		90
HP:0000553	HP:0000612	Iris coloboma	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		90
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0000553	HP:0000612	Iris coloboma	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000553	HP:0000612	Iris coloboma	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		515
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0000553	HP:0001139	Choroideremia	2	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA	.		47
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000553	HP:0000615	Abnormal pupil morphology	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000553	HP:0000612	Iris coloboma	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA			9
HP:0000553	HP:0100693	Iridodonesis	2	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA	.		9
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia			44
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia	HP:0040283 - Occasional		44
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement			42
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000553	HP:0000615	Abnormal pupil morphology	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000553	HP:0000615	Abnormal pupil morphology	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000553	HP:0000615	Abnormal pupil morphology	2	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0000553	HP:0000612	Iris coloboma	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		193
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000553	HP:0000615	Abnormal pupil morphology	2	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000553	HP:0025358	Uveal ectropion	2	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		3
HP:0000553	HP:0001089	Iris atrophy	2	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.		54
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000553	HP:0000612	Iris coloboma	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.		6
HP:0000553	HP:0100693	Iridodonesis	2	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8			5
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8			5
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8			5
HP:0000553	HP:0025358	Uveal ectropion	2	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8			5
HP:0000553	HP:0000615	Abnormal pupil morphology	2	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8			5
HP:0000553	HP:0000612	Iris coloboma	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000612	Iris coloboma	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000553	HP:0000612	Iris coloboma	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000553	HP:0000615	Abnormal pupil morphology	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy			156
HP:0000553	HP:0000612	Iris coloboma	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000553	HP:0000612	Iris coloboma	2	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	HP:0040283 - Occasional		33
HP:0000553	HP:0000612	Iris coloboma	2	CRYAA CL E G H	1409	2388	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		33
HP:0000553	HP:0000612	Iris coloboma	2	CRYBA4 CL E G H	1413	2396	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		10
HP:0000553	HP:0000612	Iris coloboma	2	CRYBB1 CL E G H	1414	2397	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		18
HP:0000553	HP:0000612	Iris coloboma	2	CRYBB2 CL E G H	1415	2398	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		13
HP:0000553	HP:0000612	Iris coloboma	2	CRYGC CL E G H	1420	2410	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		11
HP:0000553	HP:0000612	Iris coloboma	2	CRYGD CL E G H	1421	2411	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		29
HP:0000553	HP:0000612	Iris coloboma	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		57
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		57
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		57
HP:0000553	HP:0000612	Iris coloboma	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000612	Iris coloboma	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000615	Abnormal pupil morphology	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000553	HP:0011524	Iris melanoma	2	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		1
HP:0000553	HP:0012055	Ciliary body melanoma	2	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		1
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000553	HP:0000612	Iris coloboma	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0000553	HP:0000612	Iris coloboma	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		108
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000553	HP:0000615	Abnormal pupil morphology	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000553	HP:0000612	Iris coloboma	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0000553	HP:0000612	Iris coloboma	2	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		22
HP:0000553	HP:0000612	Iris coloboma	2	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		3
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation			3
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7			46
HP:0000553	HP:0000612	Iris coloboma	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare		134
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0000553	HP:0000615	Abnormal pupil morphology	2	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent		133
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0000553	HP:0000612	Iris coloboma	2	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000553	HP:0001139	Choroideremia	2	EPHA2 CL E G H	1969	3386	OMIM:116600	Cataract, posterior polar, 1 ctpa cataract, congenital total, included	.		87
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000553	HP:0000612	Iris coloboma	2	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		12
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome			12
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0000553	HP:0000615	Abnormal pupil morphology	2	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis			1361
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000553	HP:0100693	Iridodonesis	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent		1361
HP:0000553	HP:0100693	Iridodonesis	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD			655
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation			37
HP:0000553	HP:0000612	Iris coloboma	2	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040283 - Occasional		18
HP:0000553	HP:0000612	Iris coloboma	2	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		17
HP:0000553	HP:0000612	Iris coloboma	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0000553	HP:0000612	Iris coloboma	2	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	HP:0040283 - Occasional		172
HP:0000553	HP:0000612	Iris coloboma	2	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		172
HP:0000553	HP:0000612	Iris coloboma	2	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		175
HP:0000553	HP:0000612	Iris coloboma	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000553	HP:0000615	Abnormal pupil morphology	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000612	Iris coloboma	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		157
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0000553	HP:0000612	Iris coloboma	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		184
HP:0000553	HP:0000612	Iris coloboma	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional		8
HP:0000553	HP:0000612	Iris coloboma	2	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0000553	HP:0000612	Iris coloboma	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3			63
HP:0000553	HP:0000615	Abnormal pupil morphology	2	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3			63
HP:0000553	HP:0007905	Abnormal iris vasculature	2	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	.	HP:0003621 - Juvenile onset	63
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040281 - Very frequent		63
HP:0000553	HP:0000615	Abnormal pupil morphology	2	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia			63
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2			23
HP:0000553	HP:0000612	Iris coloboma	2	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		48
HP:0000553	HP:0012123	Posterior uveitis	2	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		184
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30			26
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0000553	HP:0000615	Abnormal pupil morphology	2	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000553	HP:0000612	Iris coloboma	2	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		2
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000553	HP:0000612	Iris coloboma	2	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant			7
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant			7
HP:0000553	HP:0000615	Abnormal pupil morphology	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0000553	HP:0000615	Abnormal pupil morphology	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000553	HP:0000612	Iris coloboma	2	GJA8 CL E G H	2703	4281	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		34
HP:0000553	HP:0000612	Iris coloboma	2	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		173
HP:0000553	HP:0000615	Abnormal pupil morphology	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000553	HP:0000612	Iris coloboma	2	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		24
HP:0000553	HP:0000615	Abnormal pupil morphology	2	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0000553	HP:0011524	Iris melanoma	2	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		16
HP:0000553	HP:0012055	Ciliary body melanoma	2	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		16
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome			7
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000553	HP:0000612	Iris coloboma	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0000553	HP:0011524	Iris melanoma	2	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		7
HP:0000553	HP:0012055	Ciliary body melanoma	2	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		7
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I			64
HP:0000553	HP:0000615	Abnormal pupil morphology	2	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		64
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism			64
HP:0000553	HP:0000615	Abnormal pupil morphology	2	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4			33
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000553	HP:0000615	Abnormal pupil morphology	2	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000553	HP:0025358	Uveal ectropion	2	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		33
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy			24
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy			124
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	GUCY2D CL E G H	3000	4689	OMIM:215500	Choroidal dystrophy, central areolar 1			124
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000553	HP:0000612	Iris coloboma	2	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	HP:0040284 - Very rare
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		99
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000553	HP:0000612	Iris coloboma	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.		11
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent		4
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0000553	HP:0012122	Anterior uveitis	2	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.		4
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0000553	HP:0012122	Anterior uveitis	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0000553	HP:0012122	Anterior uveitis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000553	HP:0011523	Iris cyst	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000553	HP:0000612	Iris coloboma	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0000553	HP:0000612	Iris coloboma	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		113
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000553	HP:0000615	Abnormal pupil morphology	2	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000553	HP:0000612	Iris coloboma	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		31
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0000553	HP:0000612	Iris coloboma	2	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040282 - Frequent		5
HP:0000553	HP:0000612	Iris coloboma	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000553	HP:0012123	Posterior uveitis	2	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		7
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0000553	HP:0012121	Panuveitis	2	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0000553	HP:0012122	Anterior uveitis	2	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0000553	HP:0012122	Anterior uveitis	2	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0000553	HP:0012122	Anterior uveitis	2	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0000553	HP:0012122	Anterior uveitis	2	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			4
HP:0000553	HP:0001139	Choroideremia	2	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		4
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			120
HP:0000553	HP:0001139	Choroideremia	2	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		120
HP:0000553	HP:0000612	Iris coloboma	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		111
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000553	HP:0000612	Iris coloboma	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		111
HP:0000553	HP:0000612	Iris coloboma	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		111
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			177
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome			177
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000553	HP:0000612	Iris coloboma	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000553	HP:0000612	Iris coloboma	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional		11
HP:0000553	HP:0000612	Iris coloboma	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		24
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0000553	HP:0000612	Iris coloboma	2	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040282 - Frequent
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait			327
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0000553	HP:0000612	Iris coloboma	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0000553	HP:0000612	Iris coloboma	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		196
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation			92
HP:0000553	HP:0000615	Abnormal pupil morphology	2	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040283 - Occasional		2
HP:0000553	HP:0000615	Abnormal pupil morphology	2	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040283 - Occasional		1
HP:0000553	HP:0000615	Abnormal pupil morphology	2	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040283 - Occasional		5
HP:0000553	HP:0012122	Anterior uveitis	2	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000553	HP:0000615	Abnormal pupil morphology	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000553	HP:0007774	Hypoplasia of the ciliary body	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.		92
HP:0000553	HP:0025358	Uveal ectropion	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0000553	HP:0000612	Iris coloboma	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		136
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000612	Iris coloboma	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0000553	HP:0000615	Abnormal pupil morphology	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000612	Iris coloboma	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000615	Abnormal pupil morphology	2	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040283 - Occasional		12
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040282 - Frequent		165
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal
HP:0000553	HP:0007905	Abnormal iris vasculature	2	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome			3
HP:0000553	HP:0000615	Abnormal pupil morphology	2	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome			3
HP:0000553	HP:0000615	Abnormal pupil morphology	2	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040283 - Occasional		8
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000553	HP:0000612	Iris coloboma	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040283 - Occasional		289
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000553	HP:0000612	Iris coloboma	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0000553	HP:0001089	Iris atrophy	2	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0000553	HP:0100693	Iridodonesis	2	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	HP:0040283 - Occasional		123
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome			239
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000553	HP:0000615	Abnormal pupil morphology	2	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0000553	HP:0000612	Iris coloboma	2	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types	.		21
HP:0000553	HP:0000612	Iris coloboma	2	MAF CL E G H	4094	6776	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		21
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000553	HP:0000615	Abnormal pupil morphology	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000553	HP:0000612	Iris coloboma	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0000553	HP:0012123	Posterior uveitis	2	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		6
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3			1
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0000553	HP:0000612	Iris coloboma	2	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent		22
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0000553	HP:0000612	Iris coloboma	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000553	HP:0012122	Anterior uveitis	2	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome			1
HP:0000553	HP:0000612	Iris coloboma	2	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract			1
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome			91
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000612	Iris coloboma	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		127
HP:0000553	HP:0000612	Iris coloboma	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		127
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		127
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		127
HP:0000553	HP:0000612	Iris coloboma	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MLPH CL E G H	79083	29643	ORPHA:79478	Griscelli syndrome type 3			7
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000553	HP:0000612	Iris coloboma	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0000553	HP:0000612	Iris coloboma	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0000612	Iris coloboma	2	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.		29
HP:0000553	HP:0000615	Abnormal pupil morphology	2	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040282 - Frequent		134
HP:0000553	HP:0009737	Lisch nodules	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0000553	HP:0011523	Iris cyst	2	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4	.		418
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MYO5A CL E G H	4644	7602	ORPHA:79478	Griscelli syndrome type 3			35
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000553	HP:0007905	Abnormal iris vasculature	2	MYOC CL E G H	4653	7610	OMIM:137750	Glaucoma 1, open angle, A	.		47
HP:0000553	HP:0000612	Iris coloboma	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		23
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000553	HP:0000612	Iris coloboma	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	NDP CL E G H	4693	7678	ORPHA:190	Coats disease	HP:0040283 - Occasional		39
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000553	HP:0000615	Abnormal pupil morphology	2	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent		39
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000553	HP:0000615	Abnormal pupil morphology	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0000553	HP:0000615	Abnormal pupil morphology	2	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000553	HP:0000612	Iris coloboma	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.		3
HP:0000553	HP:0000612	Iris coloboma	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0000553	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0000553	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0000553	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.		1952
HP:0000553	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0000553	HP:0009737	Lisch nodules	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0000553	HP:0012123	Posterior uveitis	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent		187
HP:0000553	HP:0001101	Iritis	2	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0000553	HP:0012122	Anterior uveitis	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0000553	HP:0007813	Nongranulomatous uveitis	2	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome	.		187
HP:0000553	HP:0000612	Iris coloboma	2	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		45
HP:0000553	HP:0000612	Iris coloboma	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0000553	HP:0000612	Iris coloboma	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional		144
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000553	HP:0000612	Iris coloboma	2	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		85
HP:0000553	HP:0000612	Iris coloboma	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		102
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0000553	HP:0000612	Iris coloboma	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000553	HP:0000612	Iris coloboma	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0000553	HP:0000615	Abnormal pupil morphology	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency			94
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000553	HP:0000615	Abnormal pupil morphology	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0000553	HP:0025358	Uveal ectropion	2	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1			4
HP:0000553	HP:0000615	Abnormal pupil morphology	2	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1			4
HP:0000553	HP:0001089	Iris atrophy	2	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1	HP:0040283 - Occasional		4
HP:0000553	HP:0025358	Uveal ectropion	2	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		4
HP:0000553	HP:0000615	Abnormal pupil morphology	2	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000553	HP:0000615	Abnormal pupil morphology	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome			194
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes			194
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis			194
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia			194
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040283 - Occasional		194
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040281 - Very frequent		194
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			194
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000553	HP:0000615	Abnormal pupil morphology	2	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation			21
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		169
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		75
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		4
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		65
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		66
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		46
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		59
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		62
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		82
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		106
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		47
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		99
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		98
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000553	HP:0000615	Abnormal pupil morphology	2	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome	HP:0040281 - Very frequent		86
HP:0000553	HP:0000612	Iris coloboma	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		4
HP:0000553	HP:0000612	Iris coloboma	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0000553	HP:0000615	Abnormal pupil morphology	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent		43
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4			51
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4			51
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040281 - Very frequent		51
HP:0000553	HP:0000615	Abnormal pupil morphology	2	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1			51
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1			51
HP:0000553	HP:0000615	Abnormal pupil morphology	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent		79
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PNPLA6 CL E G H	10908	16268	ORPHA:1180	Ataxia-hypogonadism-choroidal dystrophy syndrome			103
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000553	HP:0000612	Iris coloboma	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional		103
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0000553	HP:0000612	Iris coloboma	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000553	HP:0000612	Iris coloboma	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0000553	HP:0000612	Iris coloboma	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000553	HP:0000612	Iris coloboma	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0000553	HP:0000612	Iris coloboma	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0000553	HP:0000612	Iris coloboma	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		180
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0000553	HP:0000612	Iris coloboma	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		33
HP:0000553	HP:0000612	Iris coloboma	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		18
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0000553	HP:0000612	Iris coloboma	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		213
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0000553	HP:0000615	Abnormal pupil morphology	2	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0000553	HP:0000612	Iris coloboma	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		221
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000553	HP:0000612	Iris coloboma	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000553	HP:0000612	Iris coloboma	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040281 - Very frequent		40
HP:0000553	HP:0001139	Choroideremia	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040281 - Very frequent		40
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0001139	Choroideremia	2	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		159
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy			159
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy			159
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PRPH2 CL E G H	5961	9942	OMIM:613105	Choroidal dystrophy, central areolar 2			159
HP:0000553	HP:0025148	Dark choroid	2	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1	HP:0040283 - Occasional		159
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1			159
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3			159
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0000553	HP:0000612	Iris coloboma	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000553	HP:0000612	Iris coloboma	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.		665
HP:0000553	HP:0000612	Iris coloboma	2	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		665
HP:0000553	HP:0000612	Iris coloboma	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000553	HP:0000612	Iris coloboma	2	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		665
HP:0000553	HP:0000612	Iris coloboma	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.		40
HP:0000553	HP:0000612	Iris coloboma	2	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		40
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0000553	HP:0000615	Abnormal pupil morphology	2	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent		948
HP:0000553	HP:0012122	Anterior uveitis	2	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0000553	HP:0012122	Anterior uveitis	2	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0000553	HP:0000612	Iris coloboma	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0000553	HP:0000612	Iris coloboma	2	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent		365
HP:0000553	HP:0000615	Abnormal pupil morphology	2	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA			365
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10			8
HP:0000553	HP:0000615	Abnormal pupil morphology	2	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10			8
HP:0000553	HP:0000612	Iris coloboma	2	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10	.		8
HP:0000553	HP:0000612	Iris coloboma	2	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.		8
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000553	HP:0000612	Iris coloboma	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000553	HP:0000615	Abnormal pupil morphology	2	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism			10
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0000553	HP:0000612	Iris coloboma	2	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108			1
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		109
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		109
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000553	HP:0000612	Iris coloboma	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		167
HP:0000553	HP:0000612	Iris coloboma	2	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		167
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		167
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		167
HP:0000553	HP:0000612	Iris coloboma	2	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0000553	HP:0000612	Iris coloboma	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000553	HP:0000612	Iris coloboma	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000553	HP:0000612	Iris coloboma	2	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000553	HP:0000612	Iris coloboma	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional		86
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000553	HP:0000615	Abnormal pupil morphology	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000553	HP:0000612	Iris coloboma	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000553	HP:0000612	Iris coloboma	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.		86
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000553	HP:0000612	Iris coloboma	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		16
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000553	HP:0012055	Ciliary body melanoma	2	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		19
HP:0000553	HP:0011524	Iris melanoma	2	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent		19
HP:0000553	HP:0000615	Abnormal pupil morphology	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000553	HP:0000612	Iris coloboma	2	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		67
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5			67
HP:0000553	HP:0000612	Iris coloboma	2	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5			67
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0000553	HP:0000612	Iris coloboma	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000553	HP:0000615	Abnormal pupil morphology	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000553	HP:0000612	Iris coloboma	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0000553	HP:0000612	Iris coloboma	2	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy			20
HP:0000553	HP:0000612	Iris coloboma	2	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy	HP:0040283 - Occasional		20
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6	HP:0040281 - Very frequent		12
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0000553	HP:0000612	Iris coloboma	2	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent		174
HP:0000553	HP:0000612	Iris coloboma	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0000553	HP:0000612	Iris coloboma	2	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040283 - Occasional		22
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait			19
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D			19
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0000553	HP:0000612	Iris coloboma	2	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional		33
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000553	HP:0000612	Iris coloboma	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000553	HP:0000612	Iris coloboma	2	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.		80
HP:0000553	HP:0012122	Anterior uveitis	2	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0000553	HP:0000615	Abnormal pupil morphology	2	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	HP:0040283 - Occasional		31
HP:0000553	HP:0012122	Anterior uveitis	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000553	HP:0000612	Iris coloboma	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.		124
HP:0000553	HP:0000612	Iris coloboma	2	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		124
HP:0000553	HP:0000612	Iris coloboma	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		124
HP:0000553	HP:0000612	Iris coloboma	2	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		124
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000553	HP:0000615	Abnormal pupil morphology	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0000553	HP:0000612	Iris coloboma	2	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040282 - Frequent		28
HP:0000553	HP:0000612	Iris coloboma	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0000553	HP:0000612	Iris coloboma	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		45
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		45
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		45
HP:0000553	HP:0000612	Iris coloboma	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		76
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		76
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		76
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		31
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		31
HP:0000553	HP:0000612	Iris coloboma	2	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		1
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy			1
HP:0000553	HP:0000612	Iris coloboma	2	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0000553	HP:0000612	Iris coloboma	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent		12
HP:0000553	HP:0000612	Iris coloboma	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000553	HP:0000612	Iris coloboma	2	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy			95
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy			95
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy			95
HP:0000553	HP:0000615	Abnormal pupil morphology	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		4
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		4
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000553	HP:0000612	Iris coloboma	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		39
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000553	HP:0000612	Iris coloboma	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		45
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		45
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		45
HP:0000553	HP:0000612	Iris coloboma	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000612	Iris coloboma	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		33
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		33
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		33
HP:0000553	HP:0000612	Iris coloboma	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		82
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000553	HP:0000612	Iris coloboma	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		82
HP:0000553	HP:0000612	Iris coloboma	2	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		82
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		82
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		82
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000553	HP:0000612	Iris coloboma	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		166
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000553	HP:0000612	Iris coloboma	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		166
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		166
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		166
HP:0000553	HP:0000615	Abnormal pupil morphology	2	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0000553	HP:0012122	Anterior uveitis	2	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0000553	HP:0000612	Iris coloboma	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000615	Abnormal pupil morphology	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation			140
HP:0000553	HP:0000612	Iris coloboma	2	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		27
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0000553	HP:0000612	Iris coloboma	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia			1
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3			14
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		2
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		2
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A			146
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0000553	HP:0001139	Choroideremia	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040283 - Occasional		13
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy			180
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0000553	HP:0000612	Iris coloboma	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional		546
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000553	HP:0000615	Abnormal pupil morphology	2	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000553	HP:0025358	Uveal ectropion	2	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		47
HP:0000553	HP:0000612	Iris coloboma	2	VSX2 CL E G H	338917	1975	OMIM:610092	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3			66
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000553	HP:0000612	Iris coloboma	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation			4
HP:0000553	HP:0000612	Iris coloboma	2	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent		12
HP:0000553	HP:0000615	Abnormal pupil morphology	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040281 - Very frequent		177
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome			177
HP:0000553	HP:0008053	Aplasia/Hypoplasia of the iris	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0000553	HP:0025568	Abnormal morphology of the choroidal vasculature	2	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0000553	HP:0008034	Abnormal iris pigmentation	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000553	HP:0000612	Iris coloboma	2	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040282 - Frequent		2
HP:0000553	HP:0025358	Uveal ectropion	2	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		8
HP:0000553	HP:0000615	Abnormal pupil morphology	2	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000553	HP:0000615	Abnormal pupil morphology	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000553	HP:0000612	Iris coloboma	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.		362
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000553	HP:0000615	Abnormal pupil morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0000553	HP:0000612	Iris coloboma	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0000553	HP:0001089	Iris atrophy	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0000553	HP:0000612	Iris coloboma	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0000553	HP:0000612	Iris coloboma	2	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		34
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6			14
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0000553	HP:0000532	Abnormal chorioretinal morphology	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000553	HP:0000612	Iris coloboma	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		49
HP:0000553	HP:0025309	Abnormal pupil shape	3	CL E G H
HP:0000553	HP:0025570	Choroidal vascular hyperpermeability	3	CL E G H
HP:0000553	HP:0012634	Iris pigment dispersion	3	CL E G H
HP:0000553	HP:0025569	Polypoidal choroidal vasculopathy	3	CL E G H
HP:0000553	HP:0025567	Central serous chorioretinopathy	3	CL E G H
HP:0000553	HP:0025319	Rubeosis iridis	3	CL E G H
HP:0000553	HP:0011497	Iris neovascularization	3	CL E G H
HP:0000553	HP:0030979	Dilatation of large choroidal vessels	3	CL E G H
HP:0000553	HP:0009916	Anisocoria	3	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0000553	HP:0011506	Choroidal neovascularization	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare		415
HP:0000553	HP:0011506	Choroidal neovascularization	3	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0000553	HP:0000567	Chorioretinal coloboma	3	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0000553	HP:0200065	Chorioretinal degeneration	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0000553	HP:0200065	Chorioretinal degeneration	3	ADAMTS18 CL E G H	170692	17110	OMIM:615458	Microcornea, myopic chorioretinal atrophy, and telecanthus	.		8
HP:0000553	HP:0007676	Hypoplasia of the iris	3	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000553	HP:0009917	Persistent pupillary membrane	3	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae	HP:0040283 - Occasional		84
HP:0000553	HP:0009918	Ectopia pupillae	3	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		84
HP:0000553	HP:0007730	Iris hypopigmentation	3	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000553	HP:0011506	Choroidal neovascularization	3	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.		260
HP:0000553	HP:0001094	Iridocyclitis	3	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000553	HP:0000567	Chorioretinal coloboma	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0000553	HP:0001094	Iridocyclitis	3	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0000553	HP:0007730	Iris hypopigmentation	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000553	HP:0007730	Iris hypopigmentation	3	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000553	HP:0007730	Iris hypopigmentation	3	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000553	HP:0007730	Iris hypopigmentation	3	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		1
HP:0000553	HP:0011506	Choroidal neovascularization	3	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1	HP:0040284 - Very rare		39
HP:0000553	HP:0000555	Leukocoria	3	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040282 - Frequent		1
HP:0000553	HP:0007730	Iris hypopigmentation	3	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000553	HP:0000555	Leukocoria	3	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000553	HP:0009917	Persistent pupillary membrane	3	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000553	HP:0000555	Leukocoria	3	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	.		4
HP:0000553	HP:0009917	Persistent pupillary membrane	3	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	.		4
HP:0000553	HP:0007730	Iris hypopigmentation	3	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		4
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		43
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		17
HP:0000553	HP:0000635	Blue irides	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000635	Blue irides	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000567	Chorioretinal coloboma	3	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		101
HP:0000553	HP:0000567	Chorioretinal coloboma	3	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0000553	HP:0007730	Iris hypopigmentation	3	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		182
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0000553	HP:0007730	Iris hypopigmentation	3	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000553	HP:0012805	Iris transillumination defect	3	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000553	HP:0007730	Iris hypopigmentation	3	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000553	HP:0007730	Iris hypopigmentation	3	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9			35
HP:0000553	HP:0000567	Chorioretinal coloboma	3	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040282 - Frequent		38
HP:0000553	HP:0000526	Aniridia	3	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		7642
HP:0000553	HP:0000526	Aniridia	3	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		2
HP:0000553	HP:0000635	Blue irides	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000567	Chorioretinal coloboma	3	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040281 - Very frequent		13
HP:0000553	HP:0000567	Chorioretinal coloboma	3	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.		13
HP:0000553	HP:0011506	Choroidal neovascularization	3	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent		20
HP:0000553	HP:0200065	Chorioretinal degeneration	3	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000553	HP:0012805	Iris transillumination defect	3	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional		20
HP:0000553	HP:0000567	Chorioretinal coloboma	3	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040283 - Occasional		118
HP:0000553	HP:0007730	Iris hypopigmentation	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000553	HP:0000567	Chorioretinal coloboma	3	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0000553	HP:0000567	Chorioretinal coloboma	3	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		247
HP:0000553	HP:0000567	Chorioretinal coloboma	3	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		247
HP:0000553	HP:0000567	Chorioretinal coloboma	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0000553	HP:0007872	Choroidal hemangioma	3	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional		37
HP:0000553	HP:0001094	Iridocyclitis	3	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare		8
HP:0000553	HP:0007730	Iris hypopigmentation	3	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000553	HP:0000567	Chorioretinal coloboma	3	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		342
HP:0000553	HP:0007730	Iris hypopigmentation	3	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000553	HP:0011506	Choroidal neovascularization	3	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		86
HP:0000553	HP:0200065	Chorioretinal degeneration	3	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000553	HP:0011506	Choroidal neovascularization	3	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1	HP:0040284 - Very rare
HP:0000553	HP:0011506	Choroidal neovascularization	3	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1	HP:0040284 - Very rare
HP:0000553	HP:0200065	Chorioretinal degeneration	3	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000553	HP:0011506	Choroidal neovascularization	3	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		57
HP:0000553	HP:0011506	Choroidal neovascularization	3	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0000553	HP:0000567	Chorioretinal coloboma	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0000553	HP:0200065	Chorioretinal degeneration	3	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA	.		47
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000553	HP:0007676	Hypoplasia of the iris	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000553	HP:0000567	Chorioretinal coloboma	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000553	HP:0000526	Aniridia	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000553	HP:0012805	Iris transillumination defect	3	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA			9
HP:0000553	HP:0007730	Iris hypopigmentation	3	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000553	HP:0200065	Chorioretinal degeneration	3	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia			44
HP:0000553	HP:0011506	Choroidal neovascularization	3	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia			44
HP:0000553	HP:0000567	Chorioretinal coloboma	3	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040281 - Very frequent		42
HP:0000553	HP:0011506	Choroidal neovascularization	3	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000553	HP:0000635	Blue irides	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0007730	Iris hypopigmentation	3	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000553	HP:0012805	Iris transillumination defect	3	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000553	HP:0200065	Chorioretinal degeneration	3	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000553	HP:0009917	Persistent pupillary membrane	3	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000553	HP:0011500	Polycoria	3	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	HP:0040284 - Very rare		193
HP:0000553	HP:0007676	Hypoplasia of the iris	3	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	HP:0040284 - Very rare		193
HP:0000553	HP:0009918	Ectopia pupillae	3	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	HP:0040284 - Very rare		193
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		193
HP:0000553	HP:0200065	Chorioretinal degeneration	3	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		3
HP:0000553	HP:0009918	Ectopia pupillae	3	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		3
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0000553	HP:0012805	Iris transillumination defect	3	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8			5
HP:0000553	HP:0009917	Persistent pupillary membrane	3	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8	HP:0040283 - Occasional		5
HP:0000553	HP:0007676	Hypoplasia of the iris	3	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8			5
HP:0000553	HP:0009918	Ectopia pupillae	3	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8			5
HP:0000553	HP:0007676	Hypoplasia of the iris	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000553	HP:0009918	Ectopia pupillae	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0000553	HP:0200065	Chorioretinal degeneration	3	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000553	HP:0200065	Chorioretinal degeneration	3	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy			156
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0000553	HP:0200065	Chorioretinal degeneration	3	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000553	HP:0007676	Hypoplasia of the iris	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0009918	Ectopia pupillae	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0000553	HP:0200065	Chorioretinal degeneration	3	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0000553	HP:0200065	Chorioretinal degeneration	3	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000553	HP:0200065	Chorioretinal degeneration	3	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent		126
HP:0000553	HP:0000567	Chorioretinal coloboma	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		108
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000553	HP:0012805	Iris transillumination defect	3	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000553	HP:0009916	Anisocoria	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000553	HP:0007858	Chorioretinal lacunae	3	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000553	HP:0000526	Aniridia	3	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		164
HP:0000553	HP:0000526	Aniridia	3	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare
HP:0000553	HP:0000526	Aniridia	3	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		3
HP:0000553	HP:0000526	Aniridia	3	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0000553	HP:0000635	Blue irides	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0200065	Chorioretinal degeneration	3	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000553	HP:0007730	Iris hypopigmentation	3	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7			46
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0000553	HP:0000635	Blue irides	3	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.		67
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0000553	HP:0000635	Blue irides	3	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0000553	HP:0011506	Choroidal neovascularization	3	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		54
HP:0000553	HP:0200065	Chorioretinal degeneration	3	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000553	HP:0000635	Blue irides	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000635	Blue irides	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0000553	HP:0000635	Blue irides	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0000553	HP:0000526	Aniridia	3	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2	.		4
HP:0000553	HP:0011506	Choroidal neovascularization	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare		151
HP:0000553	HP:0007730	Iris hypopigmentation	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000553	HP:0000526	Aniridia	3	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0000553	HP:0007676	Hypoplasia of the iris	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0000553	HP:0007730	Iris hypopigmentation	3	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000553	HP:0200065	Chorioretinal degeneration	3	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000553	HP:0000526	Aniridia	3	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.		8
HP:0000553	HP:0011506	Choroidal neovascularization	3	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent		12
HP:0000553	HP:0011506	Choroidal neovascularization	3	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0000553	HP:0009918	Ectopia pupillae	3	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		1361
HP:0000553	HP:0007676	Hypoplasia of the iris	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.		1361
HP:0000553	HP:0011506	Choroidal neovascularization	3	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD			655
HP:0000553	HP:0000526	Aniridia	3	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		37
HP:0000553	HP:0007676	Hypoplasia of the iris	3	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.		172
HP:0000553	HP:0007676	Hypoplasia of the iris	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000553	HP:0009918	Ectopia pupillae	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0000553	HP:0000526	Aniridia	3	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		301
HP:0000553	HP:0000635	Blue irides	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		157
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		184
HP:0000553	HP:0009918	Ectopia pupillae	3	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	.		63
HP:0000553	HP:0007676	Hypoplasia of the iris	3	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3			63
HP:0000553	HP:0009918	Ectopia pupillae	3	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.		63
HP:0000553	HP:0007676	Hypoplasia of the iris	3	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.		63
HP:0000553	HP:0000526	Aniridia	3	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		63
HP:0000553	HP:0000526	Aniridia	3	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2	.		23
HP:0000553	HP:0200065	Chorioretinal degeneration	3	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30			26
HP:0000553	HP:0200065	Chorioretinal degeneration	3	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0000553	HP:0000555	Leukocoria	3	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000553	HP:0009917	Persistent pupillary membrane	3	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000553	HP:0007730	Iris hypopigmentation	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000553	HP:0001088	Brushfield spots	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.		29
HP:0000553	HP:0000567	Chorioretinal coloboma	3	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant			7
HP:0000553	HP:0025492	Microcoria	3	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0000553	HP:0009917	Persistent pupillary membrane	3	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0000553	HP:0009916	Anisocoria	3	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	HP:0040283 - Occasional		24
HP:0000553	HP:0000555	Leukocoria	3	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040282 - Frequent		16
HP:0000553	HP:0007872	Choroidal hemangioma	3	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome	.		7
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000553	HP:0000526	Aniridia	3	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		73
HP:0000553	HP:0007730	Iris hypopigmentation	3	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I			64
HP:0000553	HP:0007730	Iris hypopigmentation	3	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		64
HP:0000553	HP:0009918	Ectopia pupillae	3	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4	HP:0040284 - Very rare		33
HP:0000553	HP:0200065	Chorioretinal degeneration	3	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		33
HP:0000553	HP:0009918	Ectopia pupillae	3	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		33
HP:0000553	HP:0000635	Blue irides	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0000635	Blue irides	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0000635	Blue irides	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0200065	Chorioretinal degeneration	3	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy			24
HP:0000553	HP:0200065	Chorioretinal degeneration	3	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy			124
HP:0000553	HP:0200065	Chorioretinal degeneration	3	GUCY2D CL E G H	3000	4689	OMIM:215500	Choroidal dystrophy, central areolar 1			124
HP:0000553	HP:0200065	Chorioretinal degeneration	3	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000553	HP:0000567	Chorioretinal coloboma	3	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	HP:0040284 - Very rare
HP:0000553	HP:0000526	Aniridia	3	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		4
HP:0000553	HP:0200065	Chorioretinal degeneration	3	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0000553	HP:0007730	Iris hypopigmentation	3	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0000553	HP:0000635	Blue irides	3	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38	.		38
HP:0000553	HP:0007730	Iris hypopigmentation	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000553	HP:0007676	Hypoplasia of the iris	3	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040282 - Frequent
HP:0000553	HP:0000567	Chorioretinal coloboma	3	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040282 - Frequent
HP:0000553	HP:0007676	Hypoplasia of the iris	3	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0000553	HP:0011506	Choroidal neovascularization	3	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040283 - Occasional		4
HP:0000553	HP:0012424	Chorioretinitis	3	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.		2
HP:0000553	HP:0001094	Iridocyclitis	3	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.		2
HP:0000553	HP:0011506	Choroidal neovascularization	3	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1	HP:0040284 - Very rare		262
HP:0000553	HP:0000567	Chorioretinal coloboma	3	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000553	HP:0200065	Chorioretinal degeneration	3	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000553	HP:0007730	Iris hypopigmentation	3	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0000553	HP:0007730	Iris hypopigmentation	3	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0000553	HP:0012805	Iris transillumination defect	3	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000553	HP:0007730	Iris hypopigmentation	3	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000553	HP:0007730	Iris hypopigmentation	3	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0000553	HP:0009917	Persistent pupillary membrane	3	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000553	HP:0007676	Hypoplasia of the iris	3	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000553	HP:0007730	Iris hypopigmentation	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0000553	HP:0007676	Hypoplasia of the iris	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000553	HP:0012424	Chorioretinitis	3	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0000553	HP:0001094	Iridocyclitis	3	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare		65
HP:0000553	HP:0001094	Iridocyclitis	3	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0000553	HP:0007730	Iris hypopigmentation	3	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		4
HP:0000553	HP:0007730	Iris hypopigmentation	3	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		120
HP:0000553	HP:0000567	Chorioretinal coloboma	3	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0000553	HP:0000567	Chorioretinal coloboma	3	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		111
HP:0000553	HP:0007730	Iris hypopigmentation	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000526	Aniridia	3	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent		177
HP:0000553	HP:0007676	Hypoplasia of the iris	3	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.		177
HP:0000553	HP:0000526	Aniridia	3	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.		177
HP:0000553	HP:0200065	Chorioretinal degeneration	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000553	HP:0007730	Iris hypopigmentation	3	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000553	HP:0007730	Iris hypopigmentation	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000553	HP:0007858	Chorioretinal lacunae	3	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	HP:0040283 - Occasional		46
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0000553	HP:0000526	Aniridia	3	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		202
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait			327
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000553	HP:0000635	Blue irides	3	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0000553	HP:0007872	Choroidal hemangioma	3	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional		92
HP:0000553	HP:0007676	Hypoplasia of the iris	3	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.		92
HP:0000553	HP:0025492	Microcoria	3	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.		92
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		136
HP:0000553	HP:0200065	Chorioretinal degeneration	3	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000553	HP:0000526	Aniridia	3	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0000553	HP:0009918	Ectopia pupillae	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0000553	HP:0007676	Hypoplasia of the iris	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000635	Blue irides	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0000553	HP:0200065	Chorioretinal degeneration	3	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal
HP:0000553	HP:0001135	Chorioretinal dystrophy	3	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal	.
HP:0000553	HP:0012635	Iris hypoperfusion	3	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome	.		3
HP:0000553	HP:0009916	Anisocoria	3	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome	.		3
HP:0000553	HP:0200065	Chorioretinal degeneration	3	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000553	HP:0007676	Hypoplasia of the iris	3	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome	HP:0040283 - Occasional		289
HP:0000553	HP:0200065	Chorioretinal degeneration	3	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0000553	HP:0007730	Iris hypopigmentation	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0007730	Iris hypopigmentation	3	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome			239
HP:0000553	HP:0007730	Iris hypopigmentation	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0000553	HP:0007730	Iris hypopigmentation	3	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.		239
HP:0000553	HP:0009918	Ectopia pupillae	3	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	.		5
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000553	HP:0000526	Aniridia	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000553	HP:0000567	Chorioretinal coloboma	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000553	HP:0007676	Hypoplasia of the iris	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0000553	HP:0007730	Iris hypopigmentation	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000553	HP:0007730	Iris hypopigmentation	3	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040284 - Very rare		63
HP:0000553	HP:0007730	Iris hypopigmentation	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare		63
HP:0000553	HP:0007730	Iris hypopigmentation	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0000553	HP:0007730	Iris hypopigmentation	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0000553	HP:0000635	Blue irides	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000553	HP:0011506	Choroidal neovascularization	3	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3	HP:0040284 - Very rare		1
HP:0000553	HP:0000526	Aniridia	3	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		84
HP:0000553	HP:0000635	Blue irides	3	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0000553	HP:0007730	Iris hypopigmentation	3	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0000553	HP:0000635	Blue irides	3	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0000553	HP:0012805	Iris transillumination defect	3	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0000553	HP:0000526	Aniridia	3	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		4
HP:0000553	HP:0000635	Blue irides	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000553	HP:0007676	Hypoplasia of the iris	3	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome	.		1
HP:0000553	HP:0000635	Blue irides	3	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome	.		91
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0000553	HP:0007676	Hypoplasia of the iris	3	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A			91
HP:0000553	HP:0007730	Iris hypopigmentation	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000553	HP:0007730	Iris hypopigmentation	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0007730	Iris hypopigmentation	3	MLPH CL E G H	79083	29643	ORPHA:79478	Griscelli syndrome type 3	HP:0040283 - Occasional		7
HP:0000553	HP:0000635	Blue irides	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0000635	Blue irides	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000553	HP:0007730	Iris hypopigmentation	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0007730	Iris hypopigmentation	3	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040281 - Very frequent		35
HP:0000553	HP:0007730	Iris hypopigmentation	3	MYO5A CL E G H	4644	7602	ORPHA:79478	Griscelli syndrome type 3	HP:0040283 - Occasional		35
HP:0000553	HP:0007730	Iris hypopigmentation	3	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000553	HP:0007730	Iris hypopigmentation	3	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000553	HP:0000567	Chorioretinal coloboma	3	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		23
HP:0000553	HP:0000567	Chorioretinal coloboma	3	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0000553	HP:0000635	Blue irides	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0000553	HP:0200065	Chorioretinal degeneration	3	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000553	HP:0007730	Iris hypopigmentation	3	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040284 - Very rare
HP:0000553	HP:0007730	Iris hypopigmentation	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare
HP:0000553	HP:0007730	Iris hypopigmentation	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0000553	HP:0007730	Iris hypopigmentation	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0000553	HP:0200065	Chorioretinal degeneration	3	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000553	HP:0007676	Hypoplasia of the iris	3	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.		39
HP:0000553	HP:0007676	Hypoplasia of the iris	3	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent		39
HP:0000553	HP:0000555	Leukocoria	3	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000553	HP:0000555	Leukocoria	3	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000553	HP:0009917	Persistent pupillary membrane	3	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0000553	HP:0000526	Aniridia	3	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		1952
HP:0000553	HP:0001094	Iridocyclitis	3	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent		187
HP:0000553	HP:0007730	Iris hypopigmentation	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000553	HP:0200065	Chorioretinal degeneration	3	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0000553	HP:0007676	Hypoplasia of the iris	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000553	HP:0009918	Ectopia pupillae	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000553	HP:0200065	Chorioretinal degeneration	3	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040281 - Very frequent		94
HP:0000553	HP:0200065	Chorioretinal degeneration	3	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency			94
HP:0000553	HP:0000635	Blue irides	3	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0000553	HP:0007730	Iris hypopigmentation	3	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0000553	HP:0012805	Iris transillumination defect	3	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0000553	HP:0000635	Blue irides	3	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0000553	HP:0007730	Iris hypopigmentation	3	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0000553	HP:0007730	Iris hypopigmentation	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare		121
HP:0000553	HP:0007730	Iris hypopigmentation	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0000553	HP:0007730	Iris hypopigmentation	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0000553	HP:0009918	Ectopia pupillae	3	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1	HP:0040283 - Occasional		4
HP:0000553	HP:0009918	Ectopia pupillae	3	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		4
HP:0000553	HP:0200065	Chorioretinal degeneration	3	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		4
HP:0000553	HP:0200065	Chorioretinal degeneration	3	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000553	HP:0007676	Hypoplasia of the iris	3	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000553	HP:0000635	Blue irides	3	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000553	HP:0000635	Blue irides	3	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0000553	HP:0000526	Aniridia	3	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000553	HP:0007676	Hypoplasia of the iris	3	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000553	HP:0009918	Ectopia pupillae	3	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000553	HP:0000526	Aniridia	3	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent		194
HP:0000553	HP:0007676	Hypoplasia of the iris	3	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.		194
HP:0000553	HP:0000526	Aniridia	3	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040283 - Occasional		194
HP:0000553	HP:0007676	Hypoplasia of the iris	3	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis			194
HP:0000553	HP:0000567	Chorioretinal coloboma	3	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000553	HP:0000526	Aniridia	3	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		194
HP:0000553	HP:0000567	Chorioretinal coloboma	3	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040282 - Frequent		194
HP:0000553	HP:0000526	Aniridia	3	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040281 - Very frequent		194
HP:0000553	HP:0007730	Iris hypopigmentation	3	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000553	HP:0009918	Ectopia pupillae	3	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional		11
HP:0000553	HP:0007872	Choroidal hemangioma	3	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional		21
HP:0000553	HP:0000635	Blue irides	3	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.		113
HP:0000553	HP:0000635	Blue irides	3	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040283 - Occasional		113
HP:0000553	HP:0007730	Iris hypopigmentation	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0007730	Iris hypopigmentation	3	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000553	HP:0001088	Brushfield spots	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0000553	HP:0001088	Brushfield spots	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		169
HP:0000553	HP:0001088	Brushfield spots	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		75
HP:0000553	HP:0001088	Brushfield spots	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		4
HP:0000553	HP:0001088	Brushfield spots	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		65
HP:0000553	HP:0001088	Brushfield spots	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		66
HP:0000553	HP:0001088	Brushfield spots	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		46
HP:0000553	HP:0001088	Brushfield spots	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		59
HP:0000553	HP:0001088	Brushfield spots	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		62
HP:0000553	HP:0001088	Brushfield spots	3	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0000553	HP:0001088	Brushfield spots	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		82
HP:0000553	HP:0001088	Brushfield spots	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		106
HP:0000553	HP:0001088	Brushfield spots	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		47
HP:0000553	HP:0001088	Brushfield spots	3	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0000553	HP:0001088	Brushfield spots	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		99
HP:0000553	HP:0001088	Brushfield spots	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		98
HP:0000553	HP:0007676	Hypoplasia of the iris	3	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0000553	HP:0007676	Hypoplasia of the iris	3	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent		43
HP:0000553	HP:0007730	Iris hypopigmentation	3	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4			51
HP:0000553	HP:0007676	Hypoplasia of the iris	3	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4			51
HP:0000553	HP:0011500	Polycoria	3	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.		51
HP:0000553	HP:0000526	Aniridia	3	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.		51
HP:0000553	HP:0009918	Ectopia pupillae	3	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1			51
HP:0000553	HP:0007676	Hypoplasia of the iris	3	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.		51
HP:0000553	HP:0009916	Anisocoria	3	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional		79
HP:0000553	HP:0001135	Chorioretinal dystrophy	3	PNPLA6 CL E G H	10908	16268	ORPHA:1180	Ataxia-hypogonadism-choroidal dystrophy syndrome	HP:0040281 - Very frequent		103
HP:0000553	HP:0001135	Chorioretinal dystrophy	3	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		180
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		33
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		18
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		213
HP:0000553	HP:0009917	Persistent pupillary membrane	3	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		221
HP:0000553	HP:0000567	Chorioretinal coloboma	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000553	HP:0000567	Chorioretinal coloboma	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0000553	HP:0007676	Hypoplasia of the iris	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0000553	HP:0000526	Aniridia	3	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000553	HP:0200065	Chorioretinal degeneration	3	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040281 - Very frequent		40
HP:0000553	HP:0000526	Aniridia	3	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		2
HP:0000553	HP:0007730	Iris hypopigmentation	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000553	HP:0000635	Blue irides	3	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.		134
HP:0000553	HP:0000635	Blue irides	3	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040283 - Occasional		134
HP:0000553	HP:0007730	Iris hypopigmentation	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0007730	Iris hypopigmentation	3	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		159
HP:0000553	HP:0200065	Chorioretinal degeneration	3	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy			159
HP:0000553	HP:0200065	Chorioretinal degeneration	3	PRPH2 CL E G H	5961	9942	OMIM:613105	Choroidal dystrophy, central areolar 2			159
HP:0000553	HP:0011506	Choroidal neovascularization	3	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1	HP:0040284 - Very rare		159
HP:0000553	HP:0011506	Choroidal neovascularization	3	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	HP:0040284 - Very rare		159
HP:0000553	HP:0200065	Chorioretinal degeneration	3	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0000553	HP:0000635	Blue irides	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000553	HP:0001088	Brushfield spots	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000553	HP:0012775	Stellate iris	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000553	HP:0000567	Chorioretinal coloboma	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0000553	HP:0001094	Iridocyclitis	3	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0000553	HP:0001094	Iridocyclitis	3	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare		3
HP:0000553	HP:0007730	Iris hypopigmentation	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0007730	Iris hypopigmentation	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0007730	Iris hypopigmentation	3	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040283 - Occasional		67
HP:0000553	HP:0000555	Leukocoria	3	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.		365
HP:0000553	HP:0025492	Microcoria	3	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10	HP:0040283 - Occasional		8
HP:0000553	HP:0000567	Chorioretinal coloboma	3	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10	.		8
HP:0000553	HP:0007730	Iris hypopigmentation	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000553	HP:0000567	Chorioretinal coloboma	3	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0000553	HP:0000526	Aniridia	3	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		7
HP:0000553	HP:0000526	Aniridia	3	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		572
HP:0000553	HP:0000635	Blue irides	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0009918	Ectopia pupillae	3	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000553	HP:0000635	Blue irides	3	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0000553	HP:0001135	Chorioretinal dystrophy	3	RNF216 CL E G H	54476	21698	OMIM:212840	Cerebellar ataxia and hypogonadotropic hypogonadism	.		10
HP:0000553	HP:0200065	Chorioretinal degeneration	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000553	HP:0200065	Chorioretinal degeneration	3	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0000553	HP:0200065	Chorioretinal degeneration	3	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000553	HP:0200065	Chorioretinal degeneration	3	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000553	HP:0200065	Chorioretinal degeneration	3	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000553	HP:0000567	Chorioretinal coloboma	3	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		167
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0000553	HP:0200065	Chorioretinal degeneration	3	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000553	HP:0000567	Chorioretinal coloboma	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0000553	HP:0000567	Chorioretinal coloboma	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0000553	HP:0000567	Chorioretinal coloboma	3	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional		86
HP:0000553	HP:0007676	Hypoplasia of the iris	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000553	HP:0000526	Aniridia	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000553	HP:0000567	Chorioretinal coloboma	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000553	HP:0000526	Aniridia	3	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		304
HP:0000553	HP:0000526	Aniridia	3	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		55
HP:0000553	HP:0000526	Aniridia	3	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		237
HP:0000553	HP:0000526	Aniridia	3	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		147
HP:0000553	HP:0000526	Aniridia	3	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		129
HP:0000553	HP:0000526	Aniridia	3	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0000553	HP:0000567	Chorioretinal coloboma	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0000553	HP:0009916	Anisocoria	3	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional		493
HP:0000553	HP:0000567	Chorioretinal coloboma	3	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5			67
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0000553	HP:0009916	Anisocoria	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000553	HP:0000567	Chorioretinal coloboma	3	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0000553	HP:0000567	Chorioretinal coloboma	3	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy	HP:0040283 - Occasional		20
HP:0000553	HP:0007730	Iris hypopigmentation	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000553	HP:0000526	Aniridia	3	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0000553	HP:0200065	Chorioretinal degeneration	3	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0000553	HP:0200065	Chorioretinal degeneration	3	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0000553	HP:0000635	Blue irides	3	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0000553	HP:0007730	Iris hypopigmentation	3	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040282 - Frequent		42
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait			19
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D			19
HP:0000553	HP:0007730	Iris hypopigmentation	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0007730	Iris hypopigmentation	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000553	HP:0000635	Blue irides	3	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000553	HP:0007730	Iris hypopigmentation	3	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		37
HP:0000553	HP:0007730	Iris hypopigmentation	3	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040284 - Very rare		37
HP:0000553	HP:0007730	Iris hypopigmentation	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare		37
HP:0000553	HP:0007730	Iris hypopigmentation	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0000553	HP:0007730	Iris hypopigmentation	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0000553	HP:0007730	Iris hypopigmentation	3	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0000553	HP:0012775	Stellate iris	3	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0000553	HP:0000635	Blue irides	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0000553	HP:0007676	Hypoplasia of the iris	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000553	HP:0000635	Blue irides	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0000553	HP:0007730	Iris hypopigmentation	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000553	HP:0000635	Blue irides	3	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.		61
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0000553	HP:0200065	Chorioretinal degeneration	3	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000553	HP:0007730	Iris hypopigmentation	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000553	HP:0000567	Chorioretinal coloboma	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000553	HP:0001094	Iridocyclitis	3	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare		2
HP:0000553	HP:0007676	Hypoplasia of the iris	3	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.		31
HP:0000553	HP:0001094	Iridocyclitis	3	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare		14
HP:0000553	HP:0000635	Blue irides	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000635	Blue irides	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0009918	Ectopia pupillae	3	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000553	HP:0000567	Chorioretinal coloboma	3	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040282 - Frequent		28
HP:0000553	HP:0200065	Chorioretinal degeneration	3	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy			1
HP:0000553	HP:0200065	Chorioretinal degeneration	3	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy			95
HP:0000553	HP:0200065	Chorioretinal degeneration	3	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy			95
HP:0000553	HP:0011506	Choroidal neovascularization	3	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040282 - Frequent		95
HP:0000553	HP:0000555	Leukocoria	3	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0000553	HP:0000526	Aniridia	3	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		131
HP:0000553	HP:0000567	Chorioretinal coloboma	3	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		39
HP:0000553	HP:0000567	Chorioretinal coloboma	3	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0000553	HP:0000567	Chorioretinal coloboma	3	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		45
HP:0000553	HP:0000567	Chorioretinal coloboma	3	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		33
HP:0000553	HP:0000567	Chorioretinal coloboma	3	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		82
HP:0000553	HP:0000635	Blue irides	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000567	Chorioretinal coloboma	3	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0000553	HP:0000567	Chorioretinal coloboma	3	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		166
HP:0000553	HP:0009916	Anisocoria	3	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0000553	HP:0025492	Microcoria	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0000553	HP:0000635	Blue irides	3	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.		140
HP:0000553	HP:0000526	Aniridia	3	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		140
HP:0000553	HP:0000526	Aniridia	3	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		2
HP:0000553	HP:0000526	Aniridia	3	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		1
HP:0000553	HP:0000526	Aniridia	3	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		2
HP:0000553	HP:0007730	Iris hypopigmentation	3	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0000553	HP:0200065	Chorioretinal degeneration	3	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3			14
HP:0000553	HP:0007731	Chorioretinal dysplasia	3	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0000553	HP:0000635	Blue irides	3	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000553	HP:0007730	Iris hypopigmentation	3	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0000553	HP:0007730	Iris hypopigmentation	3	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent		146
HP:0000553	HP:0007730	Iris hypopigmentation	3	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040281 - Very frequent		146
HP:0000553	HP:0200064	Asymmetry of iris pigmentation	3	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0000553	HP:0000635	Blue irides	3	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040282 - Frequent		62
HP:0000553	HP:0007730	Iris hypopigmentation	3	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040282 - Frequent		62
HP:0000553	HP:0000635	Blue irides	3	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000553	HP:0007730	Iris hypopigmentation	3	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent		278
HP:0000553	HP:0007730	Iris hypopigmentation	3	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		278
HP:0000553	HP:0007730	Iris hypopigmentation	3	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0000553	HP:0007730	Iris hypopigmentation	3	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		278
HP:0000553	HP:0001135	Chorioretinal dystrophy	3	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040283 - Occasional		13
HP:0000553	HP:0007730	Iris hypopigmentation	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000553	HP:0007730	Iris hypopigmentation	3	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000553	HP:0007730	Iris hypopigmentation	3	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000553	HP:0007730	Iris hypopigmentation	3	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000553	HP:0200065	Chorioretinal degeneration	3	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy			180
HP:0000553	HP:0000526	Aniridia	3	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare		490
HP:0000553	HP:0001135	Chorioretinal dystrophy	3	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0000553	HP:0001135	Chorioretinal dystrophy	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0000553	HP:0000567	Chorioretinal coloboma	3	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000553	HP:0000635	Blue irides	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000553	HP:0007676	Hypoplasia of the iris	3	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000553	HP:0200065	Chorioretinal degeneration	3	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		47
HP:0000553	HP:0009918	Ectopia pupillae	3	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		47
HP:0000553	HP:0000567	Chorioretinal coloboma	3	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional		20
HP:0000553	HP:0000567	Chorioretinal coloboma	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0000553	HP:0007676	Hypoplasia of the iris	3	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0000553	HP:0007730	Iris hypopigmentation	3	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000553	HP:0000526	Aniridia	3	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional		4
HP:0000553	HP:0007661	Abnormality of chorioretinal pigmentation	3	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000553	HP:0009918	Ectopia pupillae	3	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000553	HP:0007676	Hypoplasia of the iris	3	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000553	HP:0000526	Aniridia	3	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000553	HP:0000526	Aniridia	3	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		177
HP:0000553	HP:0000526	Aniridia	3	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040281 - Very frequent		177
HP:0000553	HP:0011506	Choroidal neovascularization	3	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0000553	HP:0011506	Choroidal neovascularization	3	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0000553	HP:0007730	Iris hypopigmentation	3	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent		5
HP:0000553	HP:0000567	Chorioretinal coloboma	3	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040281 - Very frequent		2
HP:0000553	HP:0009918	Ectopia pupillae	3	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		8
HP:0000553	HP:0200065	Chorioretinal degeneration	3	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		8
HP:0000553	HP:0009918	Ectopia pupillae	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.		362
HP:0000553	HP:0000567	Chorioretinal coloboma	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.		362
HP:0000553	HP:0009918	Ectopia pupillae	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0000553	HP:0200065	Chorioretinal degeneration	3	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6			14
HP:0000553	HP:0200065	Chorioretinal degeneration	3	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0000553	HP:0000567	Chorioretinal coloboma	3	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		49
HP:0000553	HP:0007777	Chorioretinal scar	4	CL E G H
HP:0000553	HP:0031613	Inferior chorioretinal coloboma	4	CL E G H
HP:0000553	HP:0031241	Subfoveal choroidal neovascularization	4	CL E G H
HP:0000553	HP:0031240	Juxtafoveal choroidal neovascularization	4	CL E G H
HP:0000553	HP:0031239	Extrafoveal choroidal neovascularization	4	CL E G H
HP:0000553	HP:0008345	Hypoplasia of the iris dilator muscle	4	CL E G H
HP:0000553	HP:0025310	Oval pupil	4	CL E G H
HP:0000553	HP:0001100	Heterochromia iridis	4	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent		72
HP:0000553	HP:0001100	Heterochromia iridis	4	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent		123
HP:0000553	HP:0000533	Chorioretinal atrophy	4	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0000553	HP:0000558	Rieger anomaly	4	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000553	HP:0001100	Heterochromia iridis	4	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000553	HP:0001107	Ocular albinism	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000553	HP:0001107	Ocular albinism	4	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000553	HP:0001107	Ocular albinism	4	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness	HP:0040281 - Very frequent		1
HP:0000553	HP:0001107	Ocular albinism	4	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		1
HP:0000553	HP:0001107	Ocular albinism	4	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000553	HP:0001107	Ocular albinism	4	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000553	HP:0001107	Ocular albinism	4	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9	.		35
HP:0000553	HP:0000533	Chorioretinal atrophy	4	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent		20
HP:0000553	HP:0001107	Ocular albinism	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0000553	HP:0000533	Chorioretinal atrophy	4	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000553	HP:0000533	Chorioretinal atrophy	4	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000553	HP:0000533	Chorioretinal atrophy	4	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA	.		47
HP:0000553	HP:0007990	Hypoplastic iris stroma	4	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000553	HP:0001100	Heterochromia iridis	4	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000553	HP:0000533	Chorioretinal atrophy	4	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia			44
HP:0000553	HP:0000533	Chorioretinal atrophy	4	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000553	HP:0000558	Rieger anomaly	4	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000553	HP:0000533	Chorioretinal atrophy	4	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000553	HP:0000533	Chorioretinal atrophy	4	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy			156
HP:0000553	HP:0000533	Chorioretinal atrophy	4	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2	.		158
HP:0000553	HP:0000558	Rieger anomaly	4	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0000533	Chorioretinal atrophy	4	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0000553	HP:0000533	Chorioretinal atrophy	4	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.		126
HP:0000553	HP:0000533	Chorioretinal atrophy	4	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000553	HP:0040030	Chorioretinal hypopigmentation	4	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000553	HP:0001107	Ocular albinism	4	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.		46
HP:0000553	HP:0001100	Heterochromia iridis	4	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.		67
HP:0000553	HP:0001100	Heterochromia iridis	4	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		55
HP:0000553	HP:0001100	Heterochromia iridis	4	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0000553	HP:0000533	Chorioretinal atrophy	4	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000553	HP:0001100	Heterochromia iridis	4	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040283 - Occasional		133
HP:0000553	HP:0001107	Ocular albinism	4	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0000553	HP:0000533	Chorioretinal atrophy	4	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25	HP:0040284 - Very rare		209
HP:0000553	HP:0000558	Rieger anomaly	4	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000553	HP:0007990	Hypoplastic iris stroma	4	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	.		63
HP:0000553	HP:0000558	Rieger anomaly	4	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	.		63
HP:0000553	HP:0000533	Chorioretinal atrophy	4	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30			26
HP:0000553	HP:0000533	Chorioretinal atrophy	4	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0000553	HP:0001107	Ocular albinism	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0000553	HP:0001100	Heterochromia iridis	4	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0000553	HP:0001107	Ocular albinism	4	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.		64
HP:0000553	HP:0001107	Ocular albinism	4	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		64
HP:0000553	HP:0000533	Chorioretinal atrophy	4	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional		24
HP:0000553	HP:0000533	Chorioretinal atrophy	4	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional		124
HP:0000553	HP:0000533	Chorioretinal atrophy	4	GUCY2D CL E G H	3000	4689	OMIM:215500	Choroidal dystrophy, central areolar 1	.		124
HP:0000553	HP:0000533	Chorioretinal atrophy	4	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000553	HP:0000533	Chorioretinal atrophy	4	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		99
HP:0000553	HP:0000533	Chorioretinal atrophy	4	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000553	HP:0001107	Ocular albinism	4	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0000553	HP:0001107	Ocular albinism	4	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.		123
HP:0000553	HP:0001107	Ocular albinism	4	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.		105
HP:0000553	HP:0001107	Ocular albinism	4	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.		45
HP:0000553	HP:0001100	Heterochromia iridis	4	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus			113
HP:0000553	HP:0001107	Ocular albinism	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0000553	HP:0040030	Chorioretinal hypopigmentation	4	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0000553	HP:0000558	Rieger anomaly	4	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0000553	HP:0000533	Chorioretinal atrophy	4	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0000553	HP:0001107	Ocular albinism	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0000553	HP:0001100	Heterochromia iridis	4	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait	.		327
HP:0000553	HP:0001100	Heterochromia iridis	4	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		327
HP:0000553	HP:0001100	Heterochromia iridis	4	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0000553	HP:0001100	Heterochromia iridis	4	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		9
HP:0000553	HP:0000558	Rieger anomaly	4	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000553	HP:0000533	Chorioretinal atrophy	4	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		70
HP:0000553	HP:0000558	Rieger anomaly	4	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000553	HP:0001100	Heterochromia iridis	4	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0000553	HP:0001100	Heterochromia iridis	4	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0000553	HP:0000533	Chorioretinal atrophy	4	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal	.
HP:0000553	HP:0000533	Chorioretinal atrophy	4	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		62
HP:0000553	HP:0000533	Chorioretinal atrophy	4	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0000553	HP:0001107	Ocular albinism	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000553	HP:0001107	Ocular albinism	4	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome	HP:0040281 - Very frequent		239
HP:0000553	HP:0001107	Ocular albinism	4	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000553	HP:0007990	Hypoplastic iris stroma	4	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000553	HP:0001100	Heterochromia iridis	4	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000553	HP:0040030	Chorioretinal hypopigmentation	4	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0000553	HP:0001100	Heterochromia iridis	4	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0000553	HP:0040031	Chorioretinal hyperpigmentation	4	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000553	HP:0001100	Heterochromia iridis	4	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		91
HP:0000553	HP:0001100	Heterochromia iridis	4	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.		91
HP:0000553	HP:0007990	Hypoplastic iris stroma	4	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.		91
HP:0000553	HP:0001107	Ocular albinism	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000533	Chorioretinal atrophy	4	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040283 - Occasional		96
HP:0000553	HP:0000533	Chorioretinal atrophy	4	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000553	HP:0000533	Chorioretinal atrophy	4	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.		30
HP:0000553	HP:0000558	Rieger anomaly	4	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000553	HP:0040031	Chorioretinal hyperpigmentation	4	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040282 - Frequent		94
HP:0000553	HP:0000533	Chorioretinal atrophy	4	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040281 - Very frequent		94
HP:0000553	HP:0000533	Chorioretinal atrophy	4	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency	.		94
HP:0000553	HP:0001100	Heterochromia iridis	4	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0000553	HP:0000533	Chorioretinal atrophy	4	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.		39
HP:0000553	HP:0001100	Heterochromia iridis	4	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent		59
HP:0000553	HP:0007990	Hypoplastic iris stroma	4	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0000553	HP:0001100	Heterochromia iridis	4	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0000553	HP:0001100	Heterochromia iridis	4	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0000553	HP:0040030	Chorioretinal hypopigmentation	4	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000553	HP:0000558	Rieger anomaly	4	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.		194
HP:0000553	HP:0007990	Hypoplastic iris stroma	4	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent		194
HP:0000553	HP:0001107	Ocular albinism	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000558	Rieger anomaly	4	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0000553	HP:0007990	Hypoplastic iris stroma	4	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4			51
HP:0000553	HP:0000558	Rieger anomaly	4	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.		51
HP:0000553	HP:0001100	Heterochromia iridis	4	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0000553	HP:0001107	Ocular albinism	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0000553	HP:0001107	Ocular albinism	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000533	Chorioretinal atrophy	4	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional		159
HP:0000553	HP:0000533	Chorioretinal atrophy	4	PRPH2 CL E G H	5961	9942	OMIM:613105	Choroidal dystrophy, central areolar 2			159
HP:0000553	HP:0000533	Chorioretinal atrophy	4	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7	HP:0040283 - Occasional		159
HP:0000553	HP:0001100	Heterochromia iridis	4	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000553	HP:0001100	Heterochromia iridis	4	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040282 - Frequent		948
HP:0000553	HP:0001107	Ocular albinism	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0000553	HP:0000533	Chorioretinal atrophy	4	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000553	HP:0000533	Chorioretinal atrophy	4	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7	HP:0040283 - Occasional		38
HP:0000553	HP:0000533	Chorioretinal atrophy	4	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000553	HP:0000533	Chorioretinal atrophy	4	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		129
HP:0000553	HP:0000533	Chorioretinal atrophy	4	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000553	HP:0007990	Hypoplastic iris stroma	4	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000553	HP:0001100	Heterochromia iridis	4	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000553	HP:0040030	Chorioretinal hypopigmentation	4	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional		40
HP:0000553	HP:0001107	Ocular albinism	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0000553	HP:0000533	Chorioretinal atrophy	4	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040284 - Very rare		88
HP:0000553	HP:0040030	Chorioretinal hypopigmentation	4	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040284 - Very rare		88
HP:0000553	HP:0000533	Chorioretinal atrophy	4	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	HP:0040284 - Very rare		88
HP:0000553	HP:0001107	Ocular albinism	4	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040282 - Frequent		42
HP:0000553	HP:0001100	Heterochromia iridis	4	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait	.		19
HP:0000553	HP:0001100	Heterochromia iridis	4	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		19
HP:0000553	HP:0001100	Heterochromia iridis	4	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		19
HP:0000553	HP:0001100	Heterochromia iridis	4	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D	.		19
HP:0000553	HP:0001100	Heterochromia iridis	4	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000553	HP:0001100	Heterochromia iridis	4	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent		61
HP:0000553	HP:0001100	Heterochromia iridis	4	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		61
HP:0000553	HP:0001107	Ocular albinism	4	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	HP:0040283 - Occasional		61
HP:0000553	HP:0001100	Heterochromia iridis	4	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0000553	HP:0001100	Heterochromia iridis	4	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.		61
HP:0000553	HP:0000533	Chorioretinal atrophy	4	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		48
HP:0000553	HP:0001107	Ocular albinism	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0000553	HP:0000533	Chorioretinal atrophy	4	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy			1
HP:0000553	HP:0000533	Chorioretinal atrophy	4	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy			95
HP:0000553	HP:0000533	Chorioretinal atrophy	4	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040283 - Occasional		95
HP:0000553	HP:0040030	Chorioretinal hypopigmentation	4	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0000553	HP:0040030	Chorioretinal hypopigmentation	4	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0000553	HP:0000533	Chorioretinal atrophy	4	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000553	HP:0001107	Ocular albinism	4	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000553	HP:0001107	Ocular albinism	4	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent		146
HP:0000553	HP:0001100	Heterochromia iridis	4	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		146
HP:0000553	HP:0001107	Ocular albinism	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000553	HP:0000533	Chorioretinal atrophy	4	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.		180
HP:0000553	HP:0040030	Chorioretinal hypopigmentation	4	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0000553	HP:0040030	Chorioretinal hypopigmentation	4	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000553	HP:0000533	Chorioretinal atrophy	4	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6	HP:0040283 - Occasional		14
HP:0000553	HP:0000533	Chorioretinal atrophy	4	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0000553	HP:0030491	Choriocapillaris atrophy	5	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.		178
HP:0000553	HP:0007818	Central heterochromia	5	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0000553	HP:0007950	Peripapillary chorioretinal atrophy	5	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		86
HP:0000553	HP:0007950	Peripapillary chorioretinal atrophy	5	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		57
HP:0000553	HP:0007818	Central heterochromia	5	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000553	HP:0030491	Choriocapillaris atrophy	5	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.		156
HP:0000553	HP:0007903	Paravenous chorioretinal atrophy	5	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy	.		156
HP:0000553	HP:0030491	Choriocapillaris atrophy	5	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent		126
HP:0000553	HP:0007950	Peripapillary chorioretinal atrophy	5	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		54
HP:0000553	HP:0030491	Choriocapillaris atrophy	5	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional		24
HP:0000553	HP:0030491	Choriocapillaris atrophy	5	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional		124
HP:0000553	HP:0030491	Choriocapillaris atrophy	5	GUCY2D CL E G H	3000	4689	OMIM:215500	Choroidal dystrophy, central areolar 1	.		124
HP:0000553	HP:0009781	Lester's sign	5	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0000553	HP:0009781	Lester's sign	5	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0000553	HP:0007818	Central heterochromia	5	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000553	HP:0007950	Peripapillary chorioretinal atrophy	5	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.		30
HP:0000553	HP:0007818	Central heterochromia	5	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.		103
HP:0000553	HP:0030491	Choriocapillaris atrophy	5	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional		159
HP:0000553	HP:0007818	Central heterochromia	5	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0000553	HP:0007818	Central heterochromia	5	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000553	HP:0007950	Peripapillary chorioretinal atrophy	5	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy	.		1
HP:0000553	HP:0030491	Choriocapillaris atrophy	5	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040282 - Frequent		95