Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000525	HP:0000525	Abnormality iris morphology	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0000525	HP:0000525	Abnormality iris morphology	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome		57
HP:0000525	HP:0000525	Abnormality iris morphology	0	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0000525	HP:0000525	Abnormality iris morphology	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	94
HP:0000525	HP:0000525	Abnormality iris morphology	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0000525	HP:0000525	Abnormality iris morphology	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0000525	HP:0000525	Abnormality iris morphology	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0000525	HP:0000525	Abnormality iris morphology	0	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4		214
HP:0000525	HP:0000525	Abnormality iris morphology	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae		84
HP:0000525	HP:0000525	Abnormality iris morphology	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis		84
HP:0000525	HP:0000525	Abnormality iris morphology	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2		530
HP:0000525	HP:0000525	Abnormality iris morphology	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0000525	HP:0000525	Abnormality iris morphology	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0000525	HP:0000525	Abnormality iris morphology	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0000525	HP:0000525	Abnormality iris morphology	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0000525	HP:0000525	Abnormality iris morphology	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG		46
HP:0000525	HP:0000525	Abnormality iris morphology	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0000525	HP:0000525	Abnormality iris morphology	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id		37
HP:0000525	HP:0000525	Abnormality iris morphology	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0000525	HP:0000525	Abnormality iris morphology	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0000525	HP:0000525	Abnormality iris morphology	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000525	HP:0000525	Abnormality iris morphology	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0000525	HP:0000525	Abnormality iris morphology	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000525	HP:0000525	Abnormality iris morphology	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3		3
HP:0000525	HP:0000525	Abnormality iris morphology	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0000525	HP:0000525	Abnormality iris morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000525	HP:0000525	Abnormality iris morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000525	HP:0000525	Abnormality iris morphology	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0000525	HP:0000525	Abnormality iris morphology	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0000525	HP:0000525	Abnormality iris morphology	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0000525	HP:0000525	Abnormality iris morphology	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0000525	HP:0000525	Abnormality iris morphology	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0000525	HP:0000525	Abnormality iris morphology	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma		184
HP:0000525	HP:0000525	Abnormality iris morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000525	HP:0000525	Abnormality iris morphology	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000525	HP:0000525	Abnormality iris morphology	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000525	HP:0000525	Abnormality iris morphology	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome		101
HP:0000525	HP:0000525	Abnormality iris morphology	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome		5
HP:0000525	HP:0000525	Abnormality iris morphology	0	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy		182
HP:0000525	HP:0000525	Abnormality iris morphology	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0000525	HP:0000525	Abnormality iris morphology	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000525	HP:0000525	Abnormality iris morphology	0	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9		35
HP:0000525	HP:0000525	Abnormality iris morphology	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies		38
HP:0000525	HP:0000525	Abnormality iris morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0000525	HP:0000525	Abnormality iris morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0000525	HP:0000525	Abnormality iris morphology	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma		7642
HP:0000525	HP:0000525	Abnormality iris morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0000525	HP:0000525	Abnormality iris morphology	0	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome		13
HP:0000525	HP:0000525	Abnormality iris morphology	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome		13
HP:0000525	HP:0000525	Abnormality iris morphology	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0000525	HP:0000525	Abnormality iris morphology	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000525	HP:0000525	Abnormality iris morphology	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0000525	HP:0000525	Abnormality iris morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0000525	HP:0000525	Abnormality iris morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0000525	HP:0000525	Abnormality iris morphology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0000525	HP:0000525	Abnormality iris morphology	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1		636
HP:0000525	HP:0000525	Abnormality iris morphology	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0000525	HP:0000525	Abnormality iris morphology	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0000525	HP:0000525	Abnormality iris morphology	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0000525	HP:0000525	Abnormality iris morphology	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0000525	HP:0000525	Abnormality iris morphology	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0000525	HP:0000525	Abnormality iris morphology	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0000525	HP:0000525	Abnormality iris morphology	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0000525	HP:0000525	Abnormality iris morphology	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0000525	HP:0000525	Abnormality iris morphology	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0000525	HP:0000525	Abnormality iris morphology	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3		9
HP:0000525	HP:0000525	Abnormality iris morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000525	HP:0000525	Abnormality iris morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000525	HP:0000525	Abnormality iris morphology	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0000525	HP:0000525	Abnormality iris morphology	0	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA		9
HP:0000525	HP:0000525	Abnormality iris morphology	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1		15
HP:0000525	HP:0000525	Abnormality iris morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3		60
HP:0000525	HP:0000525	Abnormality iris morphology	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000525	HP:0000525	Abnormality iris morphology	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0000525	HP:0000525	Abnormality iris morphology	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0000525	HP:0000525	Abnormality iris morphology	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0000525	HP:0000525	Abnormality iris morphology	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy		3
HP:0000525	HP:0000525	Abnormality iris morphology	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to		54
HP:0000525	HP:0000525	Abnormality iris morphology	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0000525	HP:0000525	Abnormality iris morphology	0	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8		5
HP:0000525	HP:0000525	Abnormality iris morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types		33
HP:0000525	HP:0000525	Abnormality iris morphology	0	CRYAA CL E G H	1409	2388	ORPHA:1377	Cataract-microcornea syndrome		33
HP:0000525	HP:0000525	Abnormality iris morphology	0	CRYBA4 CL E G H	1413	2396	ORPHA:1377	Cataract-microcornea syndrome		10
HP:0000525	HP:0000525	Abnormality iris morphology	0	CRYBB1 CL E G H	1414	2397	ORPHA:1377	Cataract-microcornea syndrome		18
HP:0000525	HP:0000525	Abnormality iris morphology	0	CRYBB2 CL E G H	1415	2398	ORPHA:1377	Cataract-microcornea syndrome		13
HP:0000525	HP:0000525	Abnormality iris morphology	0	CRYGC CL E G H	1420	2410	ORPHA:1377	Cataract-microcornea syndrome		11
HP:0000525	HP:0000525	Abnormality iris morphology	0	CRYGD CL E G H	1421	2411	ORPHA:1377	Cataract-microcornea syndrome		29
HP:0000525	HP:0000525	Abnormality iris morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0000525	HP:0000525	Abnormality iris morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0000525	HP:0000525	Abnormality iris morphology	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent	101
HP:0000525	HP:0000525	Abnormality iris morphology	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0000525	HP:0000525	Abnormality iris morphology	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000525	HP:0000525	Abnormality iris morphology	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000525	HP:0000525	Abnormality iris morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0000525	HP:0000525	Abnormality iris morphology	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma		164
HP:0000525	HP:0000525	Abnormality iris morphology	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0000525	HP:0000525	Abnormality iris morphology	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0000525	HP:0000525	Abnormality iris morphology	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000525	HP:0000525	Abnormality iris morphology	0	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation		3
HP:0000525	HP:0000525	Abnormality iris morphology	0	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000525	HP:0000525	Abnormality iris morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7		46
HP:0000525	HP:0000525	Abnormality iris morphology	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0000525	HP:0000525	Abnormality iris morphology	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B		67
HP:0000525	HP:0000525	Abnormality iris morphology	0	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2		55
HP:0000525	HP:0000525	Abnormality iris morphology	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome		55
HP:0000525	HP:0000525	Abnormality iris morphology	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent	54
HP:0000525	HP:0000525	Abnormality iris morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	172
HP:0000525	HP:0000525	Abnormality iris morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000525	HP:0000525	Abnormality iris morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000525	HP:0000525	Abnormality iris morphology	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0000525	HP:0000525	Abnormality iris morphology	0	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0000525	HP:0000525	Abnormality iris morphology	0	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000525	HP:0000525	Abnormality iris morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0000525	HP:0000525	Abnormality iris morphology	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0000525	HP:0000525	Abnormality iris morphology	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease		12
HP:0000525	HP:0000525	Abnormality iris morphology	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1		33
HP:0000525	HP:0000525	Abnormality iris morphology	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0000525	HP:0000525	Abnormality iris morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0000525	HP:0000525	Abnormality iris morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0000525	HP:0000525	Abnormality iris morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0000525	HP:0000525	Abnormality iris morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0000525	HP:0000525	Abnormality iris morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0000525	HP:0000525	Abnormality iris morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0000525	HP:0000525	Abnormality iris morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0000525	HP:0000525	Abnormality iris morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0000525	HP:0000525	Abnormality iris morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0000525	HP:0000525	Abnormality iris morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0000525	HP:0000525	Abnormality iris morphology	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	1361
HP:0000525	HP:0000525	Abnormality iris morphology	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis		1361
HP:0000525	HP:0000525	Abnormality iris morphology	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0000525	HP:0000525	Abnormality iris morphology	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0000525	HP:0000525	Abnormality iris morphology	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0000525	HP:0000525	Abnormality iris morphology	0	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation		37
HP:0000525	HP:0000525	Abnormality iris morphology	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome		18
HP:0000525	HP:0000525	Abnormality iris morphology	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0000525	HP:0000525	Abnormality iris morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0000525	HP:0000525	Abnormality iris morphology	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0000525	HP:0000525	Abnormality iris morphology	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia		172
HP:0000525	HP:0000525	Abnormality iris morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0000525	HP:0000525	Abnormality iris morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease		175
HP:0000525	HP:0000525	Abnormality iris morphology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0000525	HP:0000525	Abnormality iris morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0000525	HP:0000525	Abnormality iris morphology	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0000525	HP:0000525	Abnormality iris morphology	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0000525	HP:0000525	Abnormality iris morphology	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0000525	HP:0000525	Abnormality iris morphology	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0000525	HP:0000525	Abnormality iris morphology	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0000525	HP:0000525	Abnormality iris morphology	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0000525	HP:0000525	Abnormality iris morphology	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome		63
HP:0000525	HP:0000525	Abnormality iris morphology	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3		63
HP:0000525	HP:0000525	Abnormality iris morphology	0	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia		63
HP:0000525	HP:0000525	Abnormality iris morphology	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2		23
HP:0000525	HP:0000525	Abnormality iris morphology	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	23
HP:0000525	HP:0000525	Abnormality iris morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0000525	HP:0000525	Abnormality iris morphology	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0000525	HP:0000525	Abnormality iris morphology	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0000525	HP:0000525	Abnormality iris morphology	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0000525	HP:0000525	Abnormality iris morphology	0	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0000525	HP:0000525	Abnormality iris morphology	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0000525	HP:0000525	Abnormality iris morphology	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0000525	HP:0000525	Abnormality iris morphology	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:0000525	HP:0000525	Abnormality iris morphology	0	GJA8 CL E G H	2703	4281	ORPHA:1377	Cataract-microcornea syndrome		34
HP:0000525	HP:0000525	Abnormality iris morphology	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0000525	HP:0000525	Abnormality iris morphology	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0000525	HP:0000525	Abnormality iris morphology	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome		24
HP:0000525	HP:0000525	Abnormality iris morphology	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0000525	HP:0000525	Abnormality iris morphology	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0000525	HP:0000525	Abnormality iris morphology	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma		16
HP:0000525	HP:0000525	Abnormality iris morphology	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0000525	HP:0000525	Abnormality iris morphology	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma		7
HP:0000525	HP:0000525	Abnormality iris morphology	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma		73
HP:0000525	HP:0000525	Abnormality iris morphology	0	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I		64
HP:0000525	HP:0000525	Abnormality iris morphology	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism		64
HP:0000525	HP:0000525	Abnormality iris morphology	0	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4		33
HP:0000525	HP:0000525	Abnormality iris morphology	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy		33
HP:0000525	HP:0000525	Abnormality iris morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0000525	HP:0000525	Abnormality iris morphology	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000525	HP:0000525	Abnormality iris morphology	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0000525	HP:0000525	Abnormality iris morphology	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38		38
HP:0000525	HP:0000525	Abnormality iris morphology	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000525	HP:0000525	Abnormality iris morphology	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0000525	HP:0000525	Abnormality iris morphology	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0000525	HP:0000525	Abnormality iris morphology	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0000525	HP:0000525	Abnormality iris morphology	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0000525	HP:0000525	Abnormality iris morphology	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0000525	HP:0000525	Abnormality iris morphology	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0000525	HP:0000525	Abnormality iris morphology	0	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus		113
HP:0000525	HP:0000525	Abnormality iris morphology	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000525	HP:0000525	Abnormality iris morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0000525	HP:0000525	Abnormality iris morphology	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0000525	HP:0000525	Abnormality iris morphology	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome		5
HP:0000525	HP:0000525	Abnormality iris morphology	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000525	HP:0000525	Abnormality iris morphology	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0000525	HP:0000525	Abnormality iris morphology	0	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy		120
HP:0000525	HP:0000525	Abnormality iris morphology	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0000525	HP:0000525	Abnormality iris morphology	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0000525	HP:0000525	Abnormality iris morphology	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0000525	HP:0000525	Abnormality iris morphology	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome		177
HP:0000525	HP:0000525	Abnormality iris morphology	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0000525	HP:0000525	Abnormality iris morphology	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000525	HP:0000525	Abnormality iris morphology	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0000525	HP:0000525	Abnormality iris morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0000525	HP:0000525	Abnormality iris morphology	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0000525	HP:0000525	Abnormality iris morphology	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	KIT CL E G H	3815	6342	OMIM:172800	Piebald trait		327
HP:0000525	HP:0000525	Abnormality iris morphology	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism		327
HP:0000525	HP:0000525	Abnormality iris morphology	0	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0000525	HP:0000525	Abnormality iris morphology	0	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2		9
HP:0000525	HP:0000525	Abnormality iris morphology	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0000525	HP:0000525	Abnormality iris morphology	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0000525	HP:0000525	Abnormality iris morphology	0	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair		5
HP:0000525	HP:0000525	Abnormality iris morphology	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0000525	HP:0000525	Abnormality iris morphology	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0000525	HP:0000525	Abnormality iris morphology	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0000525	HP:0000525	Abnormality iris morphology	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair		12
HP:0000525	HP:0000525	Abnormality iris morphology	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0000525	HP:0000525	Abnormality iris morphology	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0000525	HP:0000525	Abnormality iris morphology	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	6
HP:0000525	HP:0000525	Abnormality iris morphology	0	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome		3
HP:0000525	HP:0000525	Abnormality iris morphology	0	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair		8
HP:0000525	HP:0000525	Abnormality iris morphology	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000525	HP:0000525	Abnormality iris morphology	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0000525	HP:0000525	Abnormality iris morphology	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome		125
HP:0000525	HP:0000525	Abnormality iris 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:0000525	HP:0000525	Abnormality iris morphology	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome		239
HP:0000525	HP:0000525	Abnormality iris morphology	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0000525	HP:0000525	Abnormality iris morphology	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types		21
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAF CL E G H	4094	6776	ORPHA:1377	Cataract-microcornea syndrome		21
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation		63
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	13
HP:0000525	HP:0000525	Abnormality iris morphology	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0000525	HP:0000525	Abnormality iris morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0000525	HP:0000525	Abnormality iris morphology	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II		124
HP:0000525	HP:0000525	Abnormality iris morphology	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0000525	HP:0000525	Abnormality iris morphology	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000525	HP:0000525	Abnormality iris morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	11
HP:0000525	HP:0000525	Abnormality iris morphology	0	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	MITF CL E G H	4286	7105	OMIM:103500	Tietz syndrome		91
HP:0000525	HP:0000525	Abnormality iris morphology	0	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2		91
HP:0000525	HP:0000525	Abnormality iris morphology	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A		91
HP:0000525	HP:0000525	Abnormality iris morphology	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000525	HP:0000525	Abnormality iris morphology	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0000525	HP:0000525	Abnormality iris morphology	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0000525	HP:0000525	Abnormality iris morphology	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0000525	HP:0000525	Abnormality iris morphology	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0000525	HP:0000525	Abnormality iris morphology	0	MLPH CL E G H	79083	29643	ORPHA:79478	Griscelli syndrome type 3		7
HP:0000525	HP:0000525	Abnormality iris morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0000525	HP:0000525	Abnormality iris morphology	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies		29
HP:0000525	HP:0000525	Abnormality iris morphology	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B		134
HP:0000525	HP:0000525	Abnormality iris morphology	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0000525	HP:0000525	Abnormality iris morphology	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000525	HP:0000525	Abnormality iris morphology	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0000525	HP:0000525	Abnormality iris morphology	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	418
HP:0000525	HP:0000525	Abnormality iris morphology	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	326
HP:0000525	HP:0000525	Abnormality iris morphology	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1		35
HP:0000525	HP:0000525	Abnormality iris morphology	0	MYO5A CL E G H	4644	7602	ORPHA:79478	Griscelli syndrome type 3		35
HP:0000525	HP:0000525	Abnormality iris morphology	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1		516
HP:0000525	HP:0000525	Abnormality iris morphology	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2		516
HP:0000525	HP:0000525	Abnormality iris morphology	0	MYOC CL E G H	4653	7610	OMIM:137750	Glaucoma 1, open angle, A		47
HP:0000525	HP:0000525	Abnormality iris morphology	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent	47
HP:0000525	HP:0000525	Abnormality iris morphology	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000525	HP:0000525	Abnormality iris morphology	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0000525	HP:0000525	Abnormality iris morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000525	HP:0000525	Abnormality iris morphology	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0000525	HP:0000525	Abnormality iris morphology	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000525	HP:0000525	Abnormality iris morphology	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000525	HP:0000525	Abnormality iris morphology	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000525	HP:0000525	Abnormality iris morphology	0	NDP CL E G H	4693	7678	ORPHA:190	Coats disease		39
HP:0000525	HP:0000525	Abnormality iris morphology	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease		39
HP:0000525	HP:0000525	Abnormality iris morphology	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease		39
HP:0000525	HP:0000525	Abnormality iris morphology	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0000525	HP:0000525	Abnormality iris morphology	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0000525	HP:0000525	Abnormality iris morphology	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0000525	HP:0000525	Abnormality iris morphology	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0000525	HP:0000525	Abnormality iris morphology	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0000525	HP:0000525	Abnormality iris morphology	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0000525	HP:0000525	Abnormality iris morphology	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0000525	HP:0000525	Abnormality iris morphology	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0000525	HP:0000525	Abnormality iris morphology	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0000525	HP:0000525	Abnormality iris morphology	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0000525	HP:0000525	Abnormality iris morphology	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0000525	HP:0000525	Abnormality iris morphology	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0000525	HP:0000525	Abnormality iris morphology	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0000525	HP:0000525	Abnormality iris morphology	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0000525	HP:0000525	Abnormality iris morphology	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0000525	HP:0000525	Abnormality iris morphology	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000525	HP:0000525	Abnormality iris morphology	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II		121
HP:0000525	HP:0000525	Abnormality iris morphology	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		121
HP:0000525	HP:0000525	Abnormality iris morphology	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0000525	HP:0000525	Abnormality iris morphology	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0000525	HP:0000525	Abnormality iris morphology	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0000525	HP:0000525	Abnormality iris morphology	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0000525	HP:0000525	Abnormality iris morphology	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0000525	HP:0000525	Abnormality iris morphology	0	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0000525	HP:0000525	Abnormality iris morphology	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1		59
HP:0000525	HP:0000525	Abnormality iris morphology	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0000525	HP:0000525	Abnormality iris morphology	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0000525	HP:0000525	Abnormality iris morphology	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0000525	HP:0000525	Abnormality iris morphology	0	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome		194
HP:0000525	HP:0000525	Abnormality iris morphology	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0000525	HP:0000525	Abnormality iris morphology	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0000525	HP:0000525	Abnormality iris morphology	0	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia		194
HP:0000525	HP:0000525	Abnormality iris morphology	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia		194
HP:0000525	HP:0000525	Abnormality iris morphology	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome		194
HP:0000525	HP:0000525	Abnormality iris morphology	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0000525	HP:0000525	Abnormality iris morphology	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1		352
HP:0000525	HP:0000525	Abnormality iris morphology	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome		11
HP:0000525	HP:0000525	Abnormality iris morphology	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance		113
HP:0000525	HP:0000525	Abnormality iris morphology	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0000525	HP:0000525	Abnormality iris morphology	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2		40
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0000525	HP:0000525	Abnormality iris morphology	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0000525	HP:0000525	Abnormality iris morphology	0	PHOX2B CL E G H	8929	9143	ORPHA:2151	Hirschsprung disease-ganglioneuroblastoma syndrome		86
HP:0000525	HP:0000525	Abnormality iris morphology	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0000525	HP:0000525	Abnormality iris morphology	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0000525	HP:0000525	Abnormality iris morphology	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0000525	HP:0000525	Abnormality iris morphology	0	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4		51
HP:0000525	HP:0000525	Abnormality iris morphology	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome		51
HP:0000525	HP:0000525	Abnormality iris morphology	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0000525	HP:0000525	Abnormality iris morphology	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0000525	HP:0000525	Abnormality iris morphology	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0000525	HP:0000525	Abnormality iris morphology	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome		103
HP:0000525	HP:0000525	Abnormality iris morphology	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000525	HP:0000525	Abnormality iris morphology	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0000525	HP:0000525	Abnormality iris morphology	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0000525	HP:0000525	Abnormality iris morphology	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0000525	HP:0000525	Abnormality iris morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0000525	HP:0000525	Abnormality iris morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0000525	HP:0000525	Abnormality iris morphology	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0000525	HP:0000525	Abnormality iris morphology	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0000525	HP:0000525	Abnormality iris morphology	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0000525	HP:0000525	Abnormality iris morphology	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0000525	HP:0000525	Abnormality iris morphology	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0000525	HP:0000525	Abnormality iris morphology	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0000525	HP:0000525	Abnormality iris 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:0000525	HP:0000525	Abnormality iris morphology	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0000525	HP:0000525	Abnormality iris morphology	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0000525	HP:0000525	Abnormality iris morphology	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0000525	HP:0000525	Abnormality iris morphology	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0000525	HP:0000525	Abnormality iris morphology	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0000525	HP:0000525	Abnormality iris morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0000525	HP:0000525	Abnormality iris morphology	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	41
HP:0000525	HP:0000525	Abnormality iris morphology	0	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy		159
HP:0000525	HP:0000525	Abnormality iris morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0000525	HP:0000525	Abnormality iris morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome		665
HP:0000525	HP:0000525	Abnormality iris morphology	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000525	HP:0000525	Abnormality iris morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0000525	HP:0000525	Abnormality iris morphology	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0000525	HP:0000525	Abnormality iris morphology	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome		40
HP:0000525	HP:0000525	Abnormality iris morphology	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0000525	HP:0000525	Abnormality iris morphology	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0000525	HP:0000525	Abnormality iris morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0000525	HP:0000525	Abnormality iris morphology	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0000525	HP:0000525	Abnormality iris morphology	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0000525	HP:0000525	Abnormality iris morphology	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0000525	HP:0000525	Abnormality iris morphology	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14		365
HP:0000525	HP:0000525	Abnormality iris morphology	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA		365
HP:0000525	HP:0000525	Abnormality iris morphology	0	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10		8
HP:0000525	HP:0000525	Abnormality iris morphology	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome		8
HP:0000525	HP:0000525	Abnormality iris morphology	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0000525	HP:0000525	Abnormality iris morphology	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0000525	HP:0000525	Abnormality iris morphology	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma		7
HP:0000525	HP:0000525	Abnormality iris morphology	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0000525	HP:0000525	Abnormality iris morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000525	HP:0000525	Abnormality iris 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:0000525	HP:0000525	Abnormality iris morphology	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0000525	HP:0000525	Abnormality iris morphology	0	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0000525	HP:0000525	Abnormality iris morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0000525	HP:0000525	Abnormality iris morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0000525	HP:0000525	Abnormality iris morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0000525	HP:0000525	Abnormality iris morphology	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000525	HP:0000525	Abnormality iris morphology	0	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0000525	HP:0000525	Abnormality iris morphology	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0000525	HP:0000525	Abnormality iris morphology	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000525	HP:0000525	Abnormality iris morphology	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0000525	HP:0000525	Abnormality iris morphology	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0000525	HP:0000525	Abnormality iris morphology	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0000525	HP:0000525	Abnormality iris morphology	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0000525	HP:0000525	Abnormality iris morphology	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0000525	HP:0000525	Abnormality iris morphology	0	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0000525	HP:0000525	Abnormality iris morphology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000525	HP:0000525	Abnormality iris morphology	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma		19
HP:0000525	HP:0000525	Abnormality iris morphology	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0000525	HP:0000525	Abnormality iris morphology	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0000525	HP:0000525	Abnormality iris morphology	0	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5		67
HP:0000525	HP:0000525	Abnormality iris morphology	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000525	HP:0000525	Abnormality iris morphology	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0000525	HP:0000525	Abnormality iris morphology	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0000525	HP:0000525	Abnormality iris morphology	0	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy		20
HP:0000525	HP:0000525	Abnormality iris morphology	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0000525	HP:0000525	Abnormality iris morphology	0	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6		12
HP:0000525	HP:0000525	Abnormality iris morphology	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0000525	HP:0000525	Abnormality iris morphology	0	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4		42
HP:0000525	HP:0000525	Abnormality iris morphology	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4		42
HP:0000525	HP:0000525	Abnormality iris morphology	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0000525	HP:0000525	Abnormality iris morphology	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	7
HP:0000525	HP:0000525	Abnormality iris morphology	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	260
HP:0000525	HP:0000525	Abnormality iris morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	504
HP:0000525	HP:0000525	Abnormality iris morphology	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0000525	HP:0000525	Abnormality iris morphology	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0000525	HP:0000525	Abnormality iris morphology	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome		22
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNAI2 CL E G H	6591	11094	OMIM:172800	Piebald trait		19
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism		19
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2		19
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNAI2 CL E G H	6591	11094	OMIM:608890	Waardenburg syndrome, type 2D		19
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		37
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation		37
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0000525	HP:0000525	Abnormality iris morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0000525	HP:0000525	Abnormality iris morphology	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0000525	HP:0000525	Abnormality iris morphology	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0000525	HP:0000525	Abnormality iris morphology	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease		61
HP:0000525	HP:0000525	Abnormality iris morphology	0	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2		61
HP:0000525	HP:0000525	Abnormality iris morphology	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0000525	HP:0000525	Abnormality iris morphology	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C		61
HP:0000525	HP:0000525	Abnormality iris morphology	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome		33
HP:0000525	HP:0000525	Abnormality iris morphology	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000525	HP:0000525	Abnormality iris morphology	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome		80
HP:0000525	HP:0000525	Abnormality iris morphology	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10		31
HP:0000525	HP:0000525	Abnormality iris morphology	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1		31
HP:0000525	HP:0000525	Abnormality iris morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0000525	HP:0000525	Abnormality iris morphology	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome		124
HP:0000525	HP:0000525	Abnormality iris morphology	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0000525	HP:0000525	Abnormality iris morphology	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0000525	HP:0000525	Abnormality iris morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0000525	HP:0000525	Abnormality iris morphology	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000525	HP:0000525	Abnormality iris morphology	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0000525	HP:0000525	Abnormality iris morphology	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0000525	HP:0000525	Abnormality iris morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0000525	HP:0000525	Abnormality iris morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0000525	HP:0000525	Abnormality iris morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0000525	HP:0000525	Abnormality iris morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0000525	HP:0000525	Abnormality iris morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0000525	HP:0000525	Abnormality iris morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9		12
HP:0000525	HP:0000525	Abnormality iris morphology	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0000525	HP:0000525	Abnormality iris morphology	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000525	HP:0000525	Abnormality iris morphology	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	162
HP:0000525	HP:0000525	Abnormality iris morphology	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	85
HP:0000525	HP:0000525	Abnormality iris morphology	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	239
HP:0000525	HP:0000525	Abnormality iris morphology	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	253
HP:0000525	HP:0000525	Abnormality iris morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0000525	HP:0000525	Abnormality iris morphology	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0000525	HP:0000525	Abnormality iris morphology	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11		166
HP:0000525	HP:0000525	Abnormality iris morphology	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0000525	HP:0000525	Abnormality iris morphology	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000525	HP:0000525	Abnormality iris morphology	0	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation		140
HP:0000525	HP:0000525	Abnormality iris morphology	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome		27
HP:0000525	HP:0000525	Abnormality iris morphology	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0000525	HP:0000525	Abnormality iris morphology	0	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia		1
HP:0000525	HP:0000525	Abnormality iris morphology	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000525	HP:0000525	Abnormality iris morphology	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0000525	HP:0000525	Abnormality iris morphology	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A		146
HP:0000525	HP:0000525	Abnormality iris morphology	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B		146
HP:0000525	HP:0000525	Abnormality iris morphology	0	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2		146
HP:0000525	HP:0000525	Abnormality iris morphology	0	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3		62
HP:0000525	HP:0000525	Abnormality iris morphology	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0000525	HP:0000525	Abnormality iris morphology	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation		278
HP:0000525	HP:0000525	Abnormality iris morphology	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		278
HP:0000525	HP:0000525	Abnormality iris morphology	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		278
HP:0000525	HP:0000525	Abnormality iris morphology	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15		278
HP:0000525	HP:0000525	Abnormality iris morphology	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1		173
HP:0000525	HP:0000525	Abnormality iris morphology	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1		78
HP:0000525	HP:0000525	Abnormality iris morphology	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2		777
HP:0000525	HP:0000525	Abnormality iris morphology	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0000525	HP:0000525	Abnormality iris morphology	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0000525	HP:0000525	Abnormality iris morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000525	HP:0000525	Abnormality iris morphology	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0000525	HP:0000525	Abnormality iris morphology	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy		47
HP:0000525	HP:0000525	Abnormality iris morphology	0	VSX2 CL E G H	338917	1975	OMIM:610092	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3		66
HP:0000525	HP:0000525	Abnormality iris morphology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0000525	HP:0000525	Abnormality iris morphology	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0000525	HP:0000525	Abnormality iris morphology	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2		155
HP:0000525	HP:0000525	Abnormality iris morphology	0	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation		4
HP:0000525	HP:0000525	Abnormality iris morphology	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome		12
HP:0000525	HP:0000525	Abnormality iris morphology	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0000525	HP:0000525	Abnormality iris morphology	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma		177
HP:0000525	HP:0000525	Abnormality iris morphology	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome		177
HP:0000525	HP:0000525	Abnormality iris morphology	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0000525	HP:0000525	Abnormality iris morphology	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0000525	HP:0000525	Abnormality iris morphology	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0000525	HP:0000525	Abnormality iris morphology	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability		2
HP:0000525	HP:0000525	Abnormality iris morphology	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy		8
HP:0000525	HP:0000525	Abnormality iris morphology	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0000525	HP:0000525	Abnormality iris morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000525	HP:0000525	Abnormality iris morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000525	HP:0000525	Abnormality iris morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0000525	HP:0000525	Abnormality iris morphology	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0000525	HP:0011525	Iris nevus	1	CL E G H
HP:0000525	HP:0000615	Abnormal pupil morphology	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0000525	HP:0000612	Iris coloboma	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	57
HP:0000525	HP:0500007	Iris flocculi	1	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0000525	HP:0000612	Iris coloboma	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0000525	HP:0000612	Iris coloboma	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0000525	HP:0000612	Iris coloboma	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0000525	HP:0100693	Iridodonesis	1	ADAMTS17 CL E G H	170691	17109	OMIM:613195	Weill-Marchesani syndrome 4	.	214
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000525	HP:0000615	Abnormal pupil morphology	1	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae		84
HP:0000525	HP:0000615	Abnormal pupil morphology	1	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis		84
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2		530
HP:0000525	HP:0000612	Iris coloboma	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0000525	HP:0000612	Iris coloboma	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	175
HP:0000525	HP:0000612	Iris coloboma	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0000525	HP:0000612	Iris coloboma	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent	46
HP:0000525	HP:0000612	Iris coloboma	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0000525	HP:0000612	Iris coloboma	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0000525	HP:0000612	Iris coloboma	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0000525	HP:0000612	Iris coloboma	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness		1
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism		1
HP:0000525	HP:0000615	Abnormal pupil morphology	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent	1
HP:0000525	HP:0000612	Iris coloboma	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	62
HP:0000525	HP:0000612	Iris coloboma	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0000525	HP:0000615	Abnormal pupil morphology	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0000525	HP:0000612	Iris coloboma	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000525	HP:0001089	Iris atrophy	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	.	4
HP:0000525	HP:0000615	Abnormal pupil morphology	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0000525	HP:0000612	Iris coloboma	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	HP:0040283 - Occasional	4
HP:0000525	HP:0000615	Abnormal pupil morphology	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive		4
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		4
HP:0000525	HP:0000612	Iris coloboma	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0000525	HP:0000612	Iris coloboma	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	43
HP:0000525	HP:0000612	Iris coloboma	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000525	HP:0000612	Iris coloboma	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000525	HP:0000612	Iris coloboma	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	17
HP:0000525	HP:0000612	Iris coloboma	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	28
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0000525	HP:0000612	Iris coloboma	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	34
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0000525	HP:0011524	Iris melanoma	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040282 - Frequent	184
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000525	HP:0000612	Iris coloboma	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0000525	HP:0000612	Iris coloboma	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000525	HP:0000612	Iris coloboma	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000525	HP:0000612	Iris coloboma	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040281 - Very frequent	5
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy		182
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9		35
HP:0000525	HP:0000612	Iris coloboma	1	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040282 - Frequent	38
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma		7642
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation		2
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000525	HP:0000612	Iris coloboma	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040281 - Very frequent	13
HP:0000525	HP:0000612	Iris coloboma	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0000525	HP:0001089	Iris atrophy	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional	20
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0000525	HP:0000612	Iris coloboma	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0000525	HP:0000612	Iris coloboma	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	247
HP:0000525	HP:0000612	Iris coloboma	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	247
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0000525	HP:0000612	Iris coloboma	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1		636
HP:0000525	HP:0000612	Iris coloboma	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0000525	HP:0000612	Iris coloboma	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0000525	HP:0000612	Iris coloboma	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	5
HP:0000525	HP:0000612	Iris coloboma	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	7
HP:0000525	HP:0000612	Iris coloboma	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0000525	HP:0000612	Iris coloboma	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	342
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0000525	HP:0000612	Iris coloboma	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	90
HP:0000525	HP:0000612	Iris coloboma	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3		9
HP:0000525	HP:0000612	Iris coloboma	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000525	HP:0000612	Iris coloboma	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0000525	HP:0000612	Iris coloboma	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0000525	HP:0000615	Abnormal pupil morphology	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA		9
HP:0000525	HP:0100693	Iridodonesis	1	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA	.	9
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1		15
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3		60
HP:0000525	HP:0000615	Abnormal pupil morphology	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000525	HP:0000615	Abnormal pupil morphology	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0000525	HP:0000615	Abnormal pupil morphology	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0000525	HP:0000612	Iris coloboma	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	193
HP:0000525	HP:0025358	Uveal ectropion	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional	3
HP:0000525	HP:0000615	Abnormal pupil morphology	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy		3
HP:0000525	HP:0001089	Iris atrophy	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0000525	HP:0000612	Iris coloboma	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0000525	HP:0008053	Aplasia/Hypoplasia of the iris	1	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8		5
HP:0000525	HP:0008034	Abnormal iris pigmentation	1	CPAMD8