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:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		130
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040282 - Frequent	87
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		75
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		63
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive		4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare	184
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma		18
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory		6
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis		8
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis		8
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		5
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability		6
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		678
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		18
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	10
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	27
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	111
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare	1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E		30
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent	3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease		257
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy		170
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease		12
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease		175
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome		175
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome		20
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome		20
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma		184
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome		56
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare	16
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare	7
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent	4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis		4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1		4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency		148
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma		7
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect		3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	31
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis		65
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis		65
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma		6
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked		22
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	13
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	67
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	37
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		60
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent	217
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation		217
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria		217
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria		217
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PAX6 CL E G H	5080	8620	OMIM:148190	Keratitis, hereditary		194
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis		5
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		47
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant		155
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type		155
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis		3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis		3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		127
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		50
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	SAMD9 CL E G H	54809	1348	OMIM:610455	Tumoral calcinosis, normophosphatemic, familial		8
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare	19
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica		55
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency		14
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		98
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects		4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency		4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome		140
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent	140
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TRAF3IP2 CL E G H	10758	1343	OMIM:615527	Candidiasis, familial, 8		4
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic		41
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A		34
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C		86
HP:0100533	HP:0100533	Inflammatory abnormality of the eye	0	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6		8
HP:0100533	HP:0034427	Purulent eye discharge	1	CL E G H
HP:0100533	HP:0000491	Keratitis	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	130
HP:0100533	HP:0000498	Blepharitis	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0100533	HP:0000498	Blepharitis	1	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0100533	HP:0000491	Keratitis	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0100533	HP:0000509	Conjunctivitis	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0100533	HP:0000509	Conjunctivitis	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0100533	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:0100533	HP:0000491	Keratitis	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0100533	HP:0000491	Keratitis	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	75
HP:0100533	HP:0000491	Keratitis	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	63
HP:0100533	HP:0000554	Uveitis	1	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0100533	HP:0000554	Uveitis	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0100533	HP:0000509	Conjunctivitis	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0100533	HP:0000498	Blepharitis	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent	39
HP:0100533	HP:0000498	Blepharitis	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0100533	HP:0000554	Uveitis	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	HP:0040283 - Occasional	4
HP:0100533	HP:0000554	Uveitis	1	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma		18
HP:0100533	HP:0000554	Uveitis	1	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0100533	HP:0000554	Uveitis	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0100533	HP:0000509	Conjunctivitis	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	4
HP:0100533	HP:0000498	Blepharitis	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0100533	HP:0000509	Conjunctivitis	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0100533	HP:0000509	Conjunctivitis	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0100533	HP:0000509	Conjunctivitis	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0100533	HP:0000509	Conjunctivitis	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0100533	HP:0000509	Conjunctivitis	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0100533	HP:0000491	Keratitis	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0100533	HP:0000509	Conjunctivitis	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0100533	HP:0000554	Uveitis	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0100533	HP:0000554	Uveitis	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2	.	1
HP:0100533	HP:0000509	Conjunctivitis	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0100533	HP:0000491	Keratitis	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0100533	HP:0000554	Uveitis	1	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.	6
HP:0100533	HP:0000509	Conjunctivitis	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0100533	HP:0000491	Keratitis	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0100533	HP:0000554	Uveitis	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0100533	HP:0000491	Keratitis	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0100533	HP:0000509	Conjunctivitis	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0100533	HP:0000509	Conjunctivitis	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.	38
HP:0100533	HP:0000509	Conjunctivitis	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0100533	HP:0000554	Uveitis	1	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	8
HP:0100533	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:0100533	HP:0000554	Uveitis	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0100533	HP:0000509	Conjunctivitis	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	9
HP:0100533	HP:0000509	Conjunctivitis	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0100533	HP:0000509	Conjunctivitis	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	6
HP:0100533	HP:0000491	Keratitis	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	5
HP:0100533	HP:0000491	Keratitis	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent	6
HP:0100533	HP:0000491	Keratitis	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0100533	HP:0000509	Conjunctivitis	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0100533	HP:0000491	Keratitis	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	678
HP:0100533	HP:0000491	Keratitis	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	18
HP:0100533	HP:0000509	Conjunctivitis	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	263
HP:0100533	HP:0000509	Conjunctivitis	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.	10
HP:0100533	HP:0000491	Keratitis	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0100533	HP:0000498	Blepharitis	1	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type	.
HP:0100533	HP:0000498	Blepharitis	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0100533	HP:0000491	Keratitis	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	30
HP:0100533	HP:0000498	Blepharitis	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0100533	HP:0000509	Conjunctivitis	1	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0100533	HP:0000491	Keratitis	1	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0100533	HP:0000498	Blepharitis	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0100533	HP:0000509	Conjunctivitis	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0100533	HP:0000498	Blepharitis	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0100533	HP:0100534	Episcleritis	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent	3
HP:0100533	HP:0000509	Conjunctivitis	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent	3
HP:0100533	HP:0000554	Uveitis	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent	3
HP:0100533	HP:0000498	Blepharitis	1	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0100533	HP:0000491	Keratitis	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy		170
HP:0100533	HP:0000509	Conjunctivitis	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0100533	HP:0000491	Keratitis	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0100533	HP:0000554	Uveitis	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0100533	HP:0000491	Keratitis	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0100533	HP:0000491	Keratitis	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0100533	HP:0000491	Keratitis	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	106
HP:0100533	HP:0000498	Blepharitis	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0100533	HP:0000491	Keratitis	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0100533	HP:0000491	Keratitis	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0100533	HP:0000498	Blepharitis	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0100533	HP:0000491	Keratitis	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	54
HP:0100533	HP:0000554	Uveitis	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0100533	HP:0000491	Keratitis	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	158
HP:0100533	HP:0000498	Blepharitis	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0100533	HP:0000491	Keratitis	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	83
HP:0100533	HP:0000498	Blepharitis	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0100533	HP:0000554	Uveitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0100533	HP:0000554	Uveitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0100533	HP:0000491	Keratitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0100533	HP:0000491	Keratitis	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0100533	HP:0000554	Uveitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0100533	HP:0000554	Uveitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0100533	HP:0000491	Keratitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0100533	HP:0000509	Conjunctivitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0100533	HP:0000509	Conjunctivitis	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0100533	HP:0000554	Uveitis	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0100533	HP:0000491	Keratitis	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0100533	HP:0000509	Conjunctivitis	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0100533	HP:0000554	Uveitis	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0100533	HP:0000509	Conjunctivitis	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0100533	HP:0000491	Keratitis	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0100533	HP:0000509	Conjunctivitis	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0100533	HP:0000509	Conjunctivitis	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0100533	HP:0000491	Keratitis	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0100533	HP:0000509	Conjunctivitis	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0100533	HP:0000491	Keratitis	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0100533	HP:0000509	Conjunctivitis	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0100533	HP:0000491	Keratitis	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0100533	HP:0000509	Conjunctivitis	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0100533	HP:0000509	Conjunctivitis	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0100533	HP:0000491	Keratitis	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0100533	HP:0000509	Conjunctivitis	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.	20
HP:0100533	HP:0000509	Conjunctivitis	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040281 - Very frequent	20
HP:0100533	HP:0000554	Uveitis	1	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma		184
HP:0100533	HP:0000509	Conjunctivitis	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0100533	HP:0000491	Keratitis	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0100533	HP:0100532	Scleritis	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	29
HP:0100533	HP:0000498	Blepharitis	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0100533	HP:0000491	Keratitis	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0100533	HP:0000491	Keratitis	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0100533	HP:0000509	Conjunctivitis	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0100533	HP:0000509	Conjunctivitis	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0100533	HP:0000498	Blepharitis	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0100533	HP:0000491	Keratitis	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent	199
HP:0100533	HP:0000498	Blepharitis	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0100533	HP:0000509	Conjunctivitis	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0100533	HP:0000498	Blepharitis	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0100533	HP:0000509	Conjunctivitis	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0100533	HP:0000491	Keratitis	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent	56
HP:0100533	HP:0000509	Conjunctivitis	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0100533	HP:0000509	Conjunctivitis	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0100533	HP:0000509	Conjunctivitis	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0100533	HP:0000554	Uveitis	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare	2
HP:0100533	HP:0000491	Keratitis	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0100533	HP:0000509	Conjunctivitis	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0100533	HP:0000509	Conjunctivitis	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0100533	HP:0000491	Keratitis	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0100533	HP:0000509	Conjunctivitis	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0100533	HP:0000491	Keratitis	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0100533	HP:0000498	Blepharitis	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0100533	HP:0000509	Conjunctivitis	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0100533	HP:0000491	Keratitis	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0100533	HP:0000509	Conjunctivitis	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent	4
HP:0100533	HP:0000554	Uveitis	1	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1		4
HP:0100533	HP:0000509	Conjunctivitis	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0100533	HP:0000554	Uveitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0100533	HP:0000509	Conjunctivitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0100533	HP:0000491	Keratitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0100533	HP:0000554	Uveitis	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0100533	HP:0000554	Uveitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		2
HP:0100533	HP:0000509	Conjunctivitis	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency		148
HP:0100533	HP:0000491	Keratitis	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency		148
HP:0100533	HP:0000491	Keratitis	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0100533	HP:0000509	Conjunctivitis	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0100533	HP:0000509	Conjunctivitis	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0100533	HP:0000509	Conjunctivitis	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0100533	HP:0000509	Conjunctivitis	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0100533	HP:0000491	Keratitis	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0100533	HP:0000554	Uveitis	1	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma		7
HP:0100533	HP:0000509	Conjunctivitis	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0100533	HP:0000509	Conjunctivitis	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	7
HP:0100533	HP:0000509	Conjunctivitis	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	3
HP:0100533	HP:0000509	Conjunctivitis	1	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect	HP:0040283 - Occasional	3
HP:0100533	HP:0000554	Uveitis	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0100533	HP:0000491	Keratitis	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0100533	HP:0000554	Uveitis	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0100533	HP:0000554	Uveitis	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0100533	HP:0000491	Keratitis	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0100533	HP:0000509	Conjunctivitis	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0100533	HP:0000509	Conjunctivitis	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0100533	HP:0000491	Keratitis	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0100533	HP:0000491	Keratitis	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0100533	HP:0000509	Conjunctivitis	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0100533	HP:0000509	Conjunctivitis	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0100533	HP:0000491	Keratitis	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0100533	HP:0000491	Keratitis	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0100533	HP:0000509	Conjunctivitis	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0100533	HP:0000554	Uveitis	1	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	65
HP:0100533	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:0100533	HP:0000554	Uveitis	1	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0100533	HP:0000554	Uveitis	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0100533	HP:0000554	Uveitis	1	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		2
HP:0100533	HP:0000491	Keratitis	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0100533	HP:0000554	Uveitis	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040282 - Frequent	1
HP:0100533	HP:0000509	Conjunctivitis	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100533	HP:0000491	Keratitis	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0100533	HP:0000509	Conjunctivitis	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0100533	HP:0000554	Uveitis	1	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		1
HP:0100533	HP:0000509	Conjunctivitis	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0100533	HP:0000491	Keratitis	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0100533	HP:0000554	Uveitis	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0100533	HP:0000509	Conjunctivitis	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0100533	HP:0000509	Conjunctivitis	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	3
HP:0100533	HP:0000509	Conjunctivitis	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100533	HP:0000491	Keratitis	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100533	HP:0000554	Uveitis	1	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma		6
HP:0100533	HP:0100534	Episcleritis	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0100533	HP:0000509	Conjunctivitis	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0100533	HP:0000554	Uveitis	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0100533	HP:0100532	Scleritis	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0100533	HP:0000498	Blepharitis	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0100533	HP:0000491	Keratitis	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0100533	HP:0000491	Keratitis	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0100533	HP:0000491	Keratitis	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0100533	HP:0000509	Conjunctivitis	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0100533	HP:0000498	Blepharitis	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0100533	HP:0000498	Blepharitis	1	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0100533	HP:0000491	Keratitis	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0100533	HP:0000509	Conjunctivitis	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0100533	HP:0000554	Uveitis	1	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		1
HP:0100533	HP:0000509	Conjunctivitis	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	6
HP:0100533	HP:0000491	Keratitis	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0100533	HP:0000509	Conjunctivitis	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0100533	HP:0000491	Keratitis	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0100533	HP:0000509	Conjunctivitis	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0100533	HP:0000498	Blepharitis	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	.	3
HP:0100533	HP:0000554	Uveitis	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare	1
HP:0100533	HP:0000491	Keratitis	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0100533	HP:0000509	Conjunctivitis	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0100533	HP:0000498	Blepharitis	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0100533	HP:0000491	Keratitis	1	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	60
HP:0100533	HP:0000498	Blepharitis	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0100533	HP:0000509	Conjunctivitis	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0100533	HP:0000491	Keratitis	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0100533	HP:0000554	Uveitis	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0100533	HP:0000554	Uveitis	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent	217
HP:0100533	HP:0000554	Uveitis	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0100533	HP:0000509	Conjunctivitis	1	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.	217
HP:0100533	HP:0000509	Conjunctivitis	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0100533	HP:0000554	Uveitis	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0100533	HP:0000509	Conjunctivitis	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional	217
HP:0100533	HP:0000491	Keratitis	1	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria	.	217
HP:0100533	HP:0000554	Uveitis	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent	217
HP:0100533	HP:0000509	Conjunctivitis	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0100533	HP:0100534	Episcleritis	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent	217
HP:0100533	HP:0000509	Conjunctivitis	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent	217
HP:0100533	HP:0000554	Uveitis	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0100533	HP:0000554	Uveitis	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0100533	HP:0000491	Keratitis	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent	187
HP:0100533	HP:0000509	Conjunctivitis	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0100533	HP:0000491	Keratitis	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0100533	HP:0000498	Blepharitis	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0100533	HP:0000498	Blepharitis	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0100533	HP:0000491	Keratitis	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0100533	HP:0000498	Blepharitis	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0100533	HP:0000509	Conjunctivitis	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0100533	HP:0000491	Keratitis	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040280 - Obligate	194
HP:0100533	HP:0000491	Keratitis	1	PAX6 CL E G H	5080	8620	OMIM:148190	Keratitis, hereditary	.	194
HP:0100533	HP:0000491	Keratitis	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0100533	HP:0000498	Blepharitis	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0100533	HP:0000509	Conjunctivitis	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	43
HP:0100533	HP:0000498	Blepharitis	1	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040282 - Frequent	5
HP:0100533	HP:0000491	Keratitis	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0100533	HP:0000509	Conjunctivitis	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0100533	HP:0000498	Blepharitis	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0100533	HP:0000491	Keratitis	1	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	47
HP:0100533	HP:0000491	Keratitis	1	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant	HP:0040282 - Frequent	155
HP:0100533	HP:0000491	Keratitis	1	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.	155
HP:0100533	HP:0000509	Conjunctivitis	1	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.	155
HP:0100533	HP:0000554	Uveitis	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0100533	HP:0000509	Conjunctivitis	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0100533	HP:0000509	Conjunctivitis	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0100533	HP:0100534	Episcleritis	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0100533	HP:0000509	Conjunctivitis	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0100533	HP:0000554	Uveitis	1	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0100533	HP:0000554	Uveitis	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0100533	HP:0000554	Uveitis	1	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	3
HP:0100533	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:0100533	HP:0000498	Blepharitis	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0100533	HP:0000509	Conjunctivitis	1	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	127
HP:0100533	HP:0000509	Conjunctivitis	1	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	50
HP:0100533	HP:0000554	Uveitis	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0100533	HP:0000498	Blepharitis	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional	3
HP:0100533	HP:0000491	Keratitis	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0100533	HP:0000509	Conjunctivitis	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0100533	HP:0000509	Conjunctivitis	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0100533	HP:0000491	Keratitis	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0100533	HP:0000498	Blepharitis	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0100533	HP:0000509	Conjunctivitis	1	SAMD9 CL E G H	54809	1348	OMIM:610455	Tumoral calcinosis, normophosphatemic, familial	.	8
HP:0100533	HP:0000509	Conjunctivitis	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0100533	HP:0000491	Keratitis	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0100533	HP:0000554	Uveitis	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare
HP:0100533	HP:0100534	Episcleritis	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0100533	HP:0000491	Keratitis	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0100533	HP:0000498	Blepharitis	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent	55
HP:0100533	HP:0000509	Conjunctivitis	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent	55
HP:0100533	HP:0000498	Blepharitis	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0100533	HP:0000498	Blepharitis	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0100533	HP:0000509	Conjunctivitis	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0100533	HP:0000491	Keratitis	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0100533	HP:0000498	Blepharitis	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0100533	HP:0000491	Keratitis	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0100533	HP:0000509	Conjunctivitis	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0100533	HP:0000498	Blepharitis	1	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11	.	4
HP:0100533	HP:0000491	Keratitis	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0100533	HP:0000509	Conjunctivitis	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0100533	HP:0000554	Uveitis	1	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	2
HP:0100533	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:0100533	HP:0000554	Uveitis	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency		14
HP:0100533	HP:0000509	Conjunctivitis	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0100533	HP:0000509	Conjunctivitis	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0100533	HP:0000491	Keratitis	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0100533	HP:0000509	Conjunctivitis	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0100533	HP:0000498	Blepharitis	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0100533	HP:0000509	Conjunctivitis	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	2
HP:0100533	HP:0000554	Uveitis	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare	241
HP:0100533	HP:0000498	Blepharitis	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0100533	HP:0000498	Blepharitis	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0100533	HP:0000509	Conjunctivitis	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0100533	HP:0000491	Keratitis	1	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	98
HP:0100533	HP:0000498	Blepharitis	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0100533	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:0100533	HP:0000509	Conjunctivitis	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional	4
HP:0100533	HP:0000554	Uveitis	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent	4
HP:0100533	HP:0000509	Conjunctivitis	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0100533	HP:0000491	Keratitis	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0100533	HP:0000554	Uveitis	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0100533	HP:0000509	Conjunctivitis	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0100533	HP:0000509	Conjunctivitis	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.	12
HP:0100533	HP:0000509	Conjunctivitis	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0100533	HP:0000509	Conjunctivitis	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0100533	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:0100533	HP:0000509	Conjunctivitis	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0100533	HP:0000509	Conjunctivitis	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0100533	HP:0000498	Blepharitis	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0100533	HP:0000498	Blepharitis	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0100533	HP:0000491	Keratitis	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent	140
HP:0100533	HP:0000498	Blepharitis	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent	140
HP:0100533	HP:0000509	Conjunctivitis	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0100533	HP:0000498	Blepharitis	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional	140
HP:0100533	HP:0000498	Blepharitis	1	TRAF3IP2 CL E G H	10758	1343	OMIM:615527	Candidiasis, familial, 8	.	4
HP:0100533	HP:0000498	Blepharitis	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0100533	HP:0000491	Keratitis	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0100533	HP:0000509	Conjunctivitis	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0100533	HP:0100532	Scleritis	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare	31
HP:0100533	HP:0000509	Conjunctivitis	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0100533	HP:0000498	Blepharitis	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0100533	HP:0000491	Keratitis	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0100533	HP:0000491	Keratitis	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0100533	HP:0000509	Conjunctivitis	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0100533	HP:0100532	Scleritis	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	41
HP:0100533	HP:0000498	Blepharitis	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0100533	HP:0000509	Conjunctivitis	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0100533	HP:0000498	Blepharitis	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0100533	HP:0000498	Blepharitis	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia	.	8
HP:0100533	HP:0000509	Conjunctivitis	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia	.	8
HP:0100533	HP:0000509	Conjunctivitis	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0100533	HP:0000491	Keratitis	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0100533	HP:0000509	Conjunctivitis	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0100533	HP:0000498	Blepharitis	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0100533	HP:0000498	Blepharitis	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0100533	HP:0000491	Keratitis	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0100533	HP:0000509	Conjunctivitis	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0100533	HP:0000498	Blepharitis	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40
HP:0100533	HP:0000498	Blepharitis	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	34
HP:0100533	HP:0000491	Keratitis	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	34
HP:0100533	HP:0000509	Conjunctivitis	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0100533	HP:0000491	Keratitis	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0100533	HP:0000491	Keratitis	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	86
HP:0100533	HP:0000498	Blepharitis	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	86
HP:0100533	HP:0000491	Keratitis	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0100533	HP:0000509	Conjunctivitis	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0100533	HP:0000491	Keratitis	1	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6		8
HP:0100533	HP:0025609	Anterior blepharitis	2	CL E G H
HP:0100533	HP:0012124	Intermediate uveitis	2	CL E G H
HP:0100533	HP:0007879	Allergic conjunctivitis	2	CL E G H
HP:0100533	HP:0001096	Keratoconjunctivitis	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0100533	HP:0001096	Keratoconjunctivitis	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0100533	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:0100533	HP:0012122	Anterior uveitis	2	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100533	HP:0012123	Posterior uveitis	2	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	18
HP:0100533	HP:0012123	Posterior uveitis	2	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional
HP:0100533	HP:0001096	Keratoconjunctivitis	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0100533	HP:0001096	Keratoconjunctivitis	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0100533	HP:0001096	Keratoconjunctivitis	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0100533	HP:0001096	Keratoconjunctivitis	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0100533	HP:0012122	Anterior uveitis	2	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis		8
HP:0100533	HP:0001096	Keratoconjunctivitis	2	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0100533	HP:0011859	Punctate keratitis	2	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare	170
HP:0100533	HP:0001096	Keratoconjunctivitis	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0100533	HP:0001096	Keratoconjunctivitis	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0100533	HP:0001096	Keratoconjunctivitis	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0100533	HP:0001096	Keratoconjunctivitis	2	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0100533	HP:0001096	Keratoconjunctivitis	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0100533	HP:0001096	Keratoconjunctivitis	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0100533	HP:0001096	Keratoconjunctivitis	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0100533	HP:0001096	Keratoconjunctivitis	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0100533	HP:0001096	Keratoconjunctivitis	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0100533	HP:0001096	Keratoconjunctivitis	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0100533	HP:0001096	Keratoconjunctivitis	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0100533	HP:0001096	Keratoconjunctivitis	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0100533	HP:0012123	Posterior uveitis	2	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	184
HP:0100533	HP:0001096	Keratoconjunctivitis	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	29
HP:0100533	HP:0025610	Posterior blepharitis	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0100533	HP:0011859	Punctate keratitis	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0100533	HP:0001096	Keratoconjunctivitis	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0100533	HP:0025610	Posterior blepharitis	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0100533	HP:0011859	Punctate keratitis	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0100533	HP:0001096	Keratoconjunctivitis	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0100533	HP:0011859	Punctate keratitis	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0100533	HP:0001096	Keratoconjunctivitis	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0100533	HP:0025610	Posterior blepharitis	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0100533	HP:0001096	Keratoconjunctivitis	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0100533	HP:0001096	Keratoconjunctivitis	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0100533	HP:0001096	Keratoconjunctivitis	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0100533	HP:0001096	Keratoconjunctivitis	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0100533	HP:0012122	Anterior uveitis	2	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.	4
HP:0100533	HP:0001096	Keratoconjunctivitis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0100533	HP:0012122	Anterior uveitis	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0100533	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:0100533	HP:0001096	Keratoconjunctivitis	2	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040281 - Very frequent	148
HP:0100533	HP:0001096	Keratoconjunctivitis	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0100533	HP:0001096	Keratoconjunctivitis	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0100533	HP:0012123	Posterior uveitis	2	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	7
HP:0100533	HP:0012122	Anterior uveitis	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0100533	HP:0012121	Panuveitis	2	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0100533	HP:0001096	Keratoconjunctivitis	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0100533	HP:0001096	Keratoconjunctivitis	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0100533	HP:0001096	Keratoconjunctivitis	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0100533	HP:0001096	Keratoconjunctivitis	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0100533	HP:0012122	Anterior uveitis	2	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis		65
HP:0100533	HP:0012122	Anterior uveitis	2	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100533	HP:0012122	Anterior uveitis	2	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0100533	HP:0001096	Keratoconjunctivitis	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0100533	HP:0012122	Anterior uveitis	2	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	1
HP:0100533	HP:0001096	Keratoconjunctivitis	2	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0100533	HP:0001096	Keratoconjunctivitis	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100533	HP:0012123	Posterior uveitis	2	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	6
HP:0100533	HP:0025610	Posterior blepharitis	2	MBTPS2