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:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia		4
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency		223
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia		9
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia		6
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E		30
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis		3
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease		12
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease		175
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome		175
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome		20
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome		20
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome		56
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis		4
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency		148
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia		7
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect		3
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040281 - Very frequent	196
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis	.	110
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome		116
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia		3
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL		55
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome		140
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation		217
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria		217
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria		217
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2		1
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema		36
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia		43
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea	.	51
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease		563
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type		155
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	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:0000502	HP:0000502	Abnormal conjunctiva morphology	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:0000502	HP:0000502	Abnormal conjunctiva morphology	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SAMD9 CL E G H	54809	1348	OMIM:610455	Tumoral calcinosis, normophosphatemic, familial		8
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica		55
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome		52
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome		60
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B		86
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia		2
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency		4
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome		140
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic		41
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A		34
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0000502	HP:0000502	Abnormal conjunctiva morphology	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C		86
HP:0000502	HP:0012549	Conjunctival lipoma	1	CL E G H
HP:0000502	HP:0430011	Defect of palpebral conjunctiva	1	CL E G H
HP:0000502	HP:0010637	Conjunctival amyloidosis	1	CL E G H
HP:0000502	HP:0031830	Pinguecula	1	CL E G H
HP:0000502	HP:0009903	Conjunctival nodule	1	CL E G H
HP:0000502	HP:0030947	Conjunctival follicles	1	CL E G H
HP:0000502	HP:0030946	Conjunctival papillae	1	CL E G H
HP:0000502	HP:0007462	Bitot spots of the conjunctiva	1	CL E G H
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0000502	HP:0000509	Conjunctivitis	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000502	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:0000502	HP:0100780	Conjunctival hamartoma	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0000502	HP:0001140	Limbal dermoid	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0000502	HP:0000509	Conjunctivitis	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0000502	HP:0030953	Conjunctival hyperemia	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000502	HP:0020125	Spontaneous conjunctival filtering bleb	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0000502	HP:0000509	Conjunctivitis	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	4
HP:0000502	HP:0000509	Conjunctivitis	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0000502	HP:0000509	Conjunctivitis	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0000502	HP:0000509	Conjunctivitis	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0000502	HP:0000509	Conjunctivitis	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0000502	HP:0000509	Conjunctivitis	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0000502	HP:0000509	Conjunctivitis	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0000502	HP:0000509	Conjunctivitis	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0000502	HP:0000509	Conjunctivitis	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000502	HP:0000509	Conjunctivitis	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000502	HP:0000509	Conjunctivitis	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.	38
HP:0000502	HP:0000509	Conjunctivitis	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0000502	HP:0000509	Conjunctivitis	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	9
HP:0000502	HP:0000509	Conjunctivitis	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0000502	HP:0000509	Conjunctivitis	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	6
HP:0000502	HP:0000509	Conjunctivitis	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0000502	HP:0000509	Conjunctivitis	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	263
HP:0000502	HP:0000509	Conjunctivitis	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.	10
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0000502	HP:0001140	Limbal dermoid	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0000502	HP:0000509	Conjunctivitis	1	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0000502	HP:0000509	Conjunctivitis	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0000502	HP:0000509	Conjunctivitis	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent	3
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0000502	HP:0000509	Conjunctivitis	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0000502	HP:0000509	Conjunctivitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0000502	HP:0000509	Conjunctivitis	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0000502	HP:0000509	Conjunctivitis	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0000502	HP:0000509	Conjunctivitis	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000502	HP:0000509	Conjunctivitis	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0000502	HP:0000509	Conjunctivitis	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0000502	HP:0001140	Limbal dermoid	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0000502	HP:0000509	Conjunctivitis	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0000502	HP:0000509	Conjunctivitis	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000502	HP:0000509	Conjunctivitis	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0000502	HP:0000509	Conjunctivitis	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0000502	HP:0000509	Conjunctivitis	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.	20
HP:0000502	HP:0000509	Conjunctivitis	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040281 - Very frequent	20
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0000502	HP:0007799	Conjunctival whitish salt-like deposits	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0000502	HP:0000509	Conjunctivitis	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0000502	HP:0000509	Conjunctivitis	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0000502	HP:0000509	Conjunctivitis	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000502	HP:0000509	Conjunctivitis	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0000502	HP:0000509	Conjunctivitis	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0000502	HP:0000509	Conjunctivitis	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0000502	HP:0000509	Conjunctivitis	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0000502	HP:0000509	Conjunctivitis	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0000502	HP:0000509	Conjunctivitis	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0000502	HP:0000509	Conjunctivitis	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0000502	HP:0000509	Conjunctivitis	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000502	HP:0000509	Conjunctivitis	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0000502	HP:0000509	Conjunctivitis	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent	4
HP:0000502	HP:0000509	Conjunctivitis	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0000502	HP:0000509	Conjunctivitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0000502	HP:0000509	Conjunctivitis	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency		148
HP:0000502	HP:0012375	Chemosis	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0000502	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:0000502	HP:0000509	Conjunctivitis	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0000502	HP:0000509	Conjunctivitis	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0000502	HP:0000509	Conjunctivitis	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0000502	HP:0000509	Conjunctivitis	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0000502	HP:0000509	Conjunctivitis	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	7
HP:0000502	HP:0000509	Conjunctivitis	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	3
HP:0000502	HP:0000509	Conjunctivitis	1	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect	HP:0040283 - Occasional	3
HP:0000502	HP:0000509	Conjunctivitis	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0000502	HP:0000509	Conjunctivitis	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0000502	HP:0000509	Conjunctivitis	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000502	HP:0000509	Conjunctivitis	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000502	HP:0000509	Conjunctivitis	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0000502	HP:0000509	Conjunctivitis	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000502	HP:0100780	Conjunctival hamartoma	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0000502	HP:0000509	Conjunctivitis	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000502	HP:0001140	Limbal dermoid	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0000502	HP:0001140	Limbal dermoid	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040281 - Very frequent	196
HP:0000502	HP:0100780	Conjunctival hamartoma	1	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	100
HP:0000502	HP:0100780	Conjunctival hamartoma	1	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	45
HP:0000502	HP:0034363	Corneal pterygium	1	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome		116
HP:0000502	HP:0000509	Conjunctivitis	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0000502	HP:0000509	Conjunctivitis	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0000502	HP:0000509	Conjunctivitis	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	3
HP:0000502	HP:0000509	Conjunctivitis	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL		55
HP:0000502	HP:0030953	Conjunctival hyperemia	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0000502	HP:0000509	Conjunctivitis	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0000502	HP:0000509	Conjunctivitis	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0000502	HP:0000509	Conjunctivitis	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0000502	HP:0000509	Conjunctivitis	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.	6
HP:0000502	HP:0000509	Conjunctivitis	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0000502	HP:0000509	Conjunctivitis	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0000502	HP:0000509	Conjunctivitis	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0000502	HP:0000509	Conjunctivitis	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0000502	HP:0000509	Conjunctivitis	1	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.	217
HP:0000502	HP:0000509	Conjunctivitis	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0000502	HP:0000509	Conjunctivitis	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional	217
HP:0000502	HP:0030953	Conjunctival hyperemia	1	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria	.	217
HP:0000502	HP:0000509	Conjunctivitis	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent	217
HP:0000502	HP:0030953	Conjunctival hyperemia	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0000502	HP:0000509	Conjunctivitis	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0000502	HP:0000509	Conjunctivitis	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0000502	HP:0000509	Conjunctivitis	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2		1
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0000502	HP:0032106	Conjunctival icterus	1	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	HP:0040284 - Very rare	36
HP:0000502	HP:0032106	Conjunctival icterus	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0000502	HP:0100780	Conjunctival hamartoma	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0000502	HP:0000509	Conjunctivitis	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	43
HP:0000502	HP:0500070	Conjunctival dermolipoma	1	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea		51
HP:0000502	HP:0032106	Conjunctival icterus	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0000502	HP:0000509	Conjunctivitis	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0000502	HP:0000509	Conjunctivitis	1	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.	155
HP:0000502	HP:0000509	Conjunctivitis	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0000502	HP:0000509	Conjunctivitis	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000502	HP:0000509	Conjunctivitis	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0000502	HP:0100780	Conjunctival hamartoma	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0000502	HP:0001140	Limbal dermoid	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent	948
HP:0000502	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:0000502	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:0000502	HP:0000509	Conjunctivitis	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000502	HP:0000509	Conjunctivitis	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0000502	HP:0001140	Limbal dermoid	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000502	HP:0000509	Conjunctivitis	1	SAMD9 CL E G H	54809	1348	OMIM:610455	Tumoral calcinosis, normophosphatemic, familial	.	8
HP:0000502	HP:0000509	Conjunctivitis	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0000502	HP:0100780	Conjunctival hamartoma	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0000502	HP:0100780	Conjunctival hamartoma	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0000502	HP:0100780	Conjunctival hamartoma	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0000502	HP:0100780	Conjunctival hamartoma	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0000502	HP:0001140	Limbal dermoid	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000502	HP:0030953	Conjunctival hyperemia	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000502	HP:0000509	Conjunctivitis	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent	55
HP:0000502	HP:0032106	Conjunctival icterus	1	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome	HP:0040283 - Occasional	52
HP:0000502	HP:0032106	Conjunctival icterus	1	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome	HP:0040283 - Occasional	60
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0000502	HP:0000509	Conjunctivitis	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0000502	HP:0000509	Conjunctivitis	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0000502	HP:0000509	Conjunctivitis	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0000502	HP:0000509	Conjunctivitis	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0000502	HP:0000509	Conjunctivitis	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0000502	HP:0000509	Conjunctivitis	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000502	HP:0000509	Conjunctivitis	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	2
HP:0000502	HP:0000509	Conjunctivitis	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0000502	HP:0000509	Conjunctivitis	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional	4
HP:0000502	HP:0000509	Conjunctivitis	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0000502	HP:0000509	Conjunctivitis	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0000502	HP:0000509	Conjunctivitis	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.	12
HP:0000502	HP:0030953	Conjunctival hyperemia	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0000502	HP:0000509	Conjunctivitis	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0000502	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:0000502	HP:0000509	Conjunctivitis	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0000502	HP:0000509	Conjunctivitis	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0000502	HP:0000509	Conjunctivitis	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0000502	HP:0000509	Conjunctivitis	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000502	HP:0000509	Conjunctivitis	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0000502	HP:0000509	Conjunctivitis	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0000502	HP:0000509	Conjunctivitis	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0000502	HP:0000509	Conjunctivitis	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia	.	8
HP:0000502	HP:0100780	Conjunctival hamartoma	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0000502	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:0000502	HP:0000509	Conjunctivitis	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0000502	HP:0000509	Conjunctivitis	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0000502	HP:0000509	Conjunctivitis	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0000502	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0000502	HP:0000509	Conjunctivitis	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0000502	HP:0007879	Allergic conjunctivitis	2	CL E G H
HP:0000502	HP:0007721	Saccular conjunctival dilatations	2	CL E G H
HP:0000502	HP:0025350	Giant conjunctival papillae	2	CL E G H
HP:0000502	HP:0025338	Circumlimbal hyperemia	2	CL E G H
HP:0000502	HP:0500039	Conjunctival cicatrization	2	CL E G H
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0000502	HP:0001096	Keratoconjunctivitis	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000502	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:0000502	HP:0000503	Tortuosity of conjunctival vessels	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040283 - Occasional	64
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0000502	HP:0001096	Keratoconjunctivitis	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0000502	HP:0001096	Keratoconjunctivitis	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0000502	HP:0001096	Keratoconjunctivitis	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000502	HP:0001096	Keratoconjunctivitis	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000502	HP:0001096	Keratoconjunctivitis	2	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	.	51
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	30
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0000502	HP:0001096	Keratoconjunctivitis	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0000502	HP:0001096	Keratoconjunctivitis	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0000502	HP:0001096	Keratoconjunctivitis	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	106
HP:0000502	HP:0001096	Keratoconjunctivitis	2	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0000502	HP:0001096	Keratoconjunctivitis	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	54
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	158
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	83
HP:0000502	HP:0001096	Keratoconjunctivitis	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0000502	HP:0001096	Keratoconjunctivitis	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0000502	HP:0001096	Keratoconjunctivitis	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0000502	HP:0001096	Keratoconjunctivitis	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000502	HP:0001096	Keratoconjunctivitis	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0000502	HP:0001096	Keratoconjunctivitis	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0000502	HP:0001096	Keratoconjunctivitis	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0000502	HP:0000503	Tortuosity of conjunctival vessels	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0000502	HP:0001096	Keratoconjunctivitis	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	29
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0000502	HP:0001096	Keratoconjunctivitis	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0000502	HP:0001096	Keratoconjunctivitis	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000502	HP:0001096	Keratoconjunctivitis	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0000502	HP:0001096	Keratoconjunctivitis	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0000502	HP:0001096	Keratoconjunctivitis	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0000502	HP:0001096	Keratoconjunctivitis	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0000502	HP:0001096	Keratoconjunctivitis	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0000502	HP:0001096	Keratoconjunctivitis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0000502	HP:0001096	Keratoconjunctivitis	2	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040281 - Very frequent	148
HP:0000502	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:0000502	HP:0001096	Keratoconjunctivitis	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0000502	HP:0001096	Keratoconjunctivitis	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0000502	HP:0001096	Keratoconjunctivitis	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000502	HP:0001096	Keratoconjunctivitis	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000502	HP:0001096	Keratoconjunctivitis	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0000502	HP:0001096	Keratoconjunctivitis	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000502	HP:0001096	Keratoconjunctivitis	2	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0000502	HP:0001096	Keratoconjunctivitis	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000502	HP:0000503	Tortuosity of conjunctival vessels	2	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.	55
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0000502	HP:0001096	Keratoconjunctivitis	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0000502	HP:0001096	Keratoconjunctivitis	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0000502	HP:0001096	Keratoconjunctivitis	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0000502	HP:0001096	Keratoconjunctivitis	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0000502	HP:0001096	Keratoconjunctivitis	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0000502	HP:0001096	Keratoconjunctivitis	2	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.	1
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98
HP:0000502	HP:0001096	Keratoconjunctivitis	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0000502	HP:0001096	Keratoconjunctivitis	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0000502	HP:0001096	Keratoconjunctivitis	2	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	HP:0040283 - Occasional	162
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0000502	HP:0001096	Keratoconjunctivitis	2	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0000502	HP:0001096	Keratoconjunctivitis	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0000502	HP:0001096	Keratoconjunctivitis	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0000502	HP:0001096	Keratoconjunctivitis	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000502	HP:0001096	Keratoconjunctivitis	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0000502	HP:0007717	Chronic irritative conjunctivitis	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional	140
HP:0000502	HP:0001096	Keratoconjunctivitis	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000502	HP:0001096	Keratoconjunctivitis	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare	31
HP:0000502	HP:0001096	Keratoconjunctivitis	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	41
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	34
HP:0000502	HP:0000524	Conjunctival telangiectasia	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	86
HP:0000502	HP:0500040	Dermolipoma of the conjunctiva	3	CL E G H
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040283 - Occasional	129
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	HP:0040283 - Occasional	106
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	HP:0040283 - Occasional	106
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	17
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	175
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	145
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040281 - Very frequent	53
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent	70
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare	81
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0000502	HP:0001097	Keratoconjunctivitis sicca	3	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional