Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal eye physiology (HP:0012373)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Abnormal corneal epithelium morphology (HP:0011495)

Parent Node:
Inflammatory abnormality of the eye (HP:0100533)

..Starting node
..Keratitis (HP:0000491)

Term ID:

491

Name:

Keratitis

Synonym:

Corneal inflammation

Definition:

Inflammation of the cornea.

Comments:

Reference:

HP:0000491

Genes and Diseases:

Child Nodes:

........

Keratoconjunctivitis (HP:0001096)

................... HP:0001097 Keratoconjunctivitis sicca

........

Punctate keratitis (HP:0011859)

Sister Nodes:

Blepharitis (HP:0000498)

Conjunctivitis (HP:0000509)

Episcleritis (HP:0100534)

Scleritis (HP:0100532)

Uveitis (HP:0000554)

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:0000491	HP:0000491	Keratitis	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	130
HP:0000491	HP:0000491	Keratitis	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000491	HP:0000491	Keratitis	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0000491	HP:0000491	Keratitis	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	75
HP:0000491	HP:0000491	Keratitis	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	63
HP:0000491	HP:0000491	Keratitis	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0000491	HP:0000491	Keratitis	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0000491	HP:0000491	Keratitis	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000491	HP:0000491	Keratitis	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000491	HP:0000491	Keratitis	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	5
HP:0000491	HP:0000491	Keratitis	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent	6
HP:0000491	HP:0000491	Keratitis	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0000491	HP:0000491	Keratitis	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	678
HP:0000491	HP:0000491	Keratitis	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	18
HP:0000491	HP:0000491	Keratitis	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0000491	HP:0000491	Keratitis	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	30
HP:0000491	HP:0000491	Keratitis	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0000491	HP:0000491	Keratitis	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy		170
HP:0000491	HP:0000491	Keratitis	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0000491	HP:0000491	Keratitis	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0000491	HP:0000491	Keratitis	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0000491	HP:0000491	Keratitis	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	106
HP:0000491	HP:0000491	Keratitis	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0000491	HP:0000491	Keratitis	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0000491	HP:0000491	Keratitis	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	54
HP:0000491	HP:0000491	Keratitis	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	158
HP:0000491	HP:0000491	Keratitis	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	83
HP:0000491	HP:0000491	Keratitis	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0000491	HP:0000491	Keratitis	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0000491	HP:0000491	Keratitis	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0000491	HP:0000491	Keratitis	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0000491	HP:0000491	Keratitis	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000491	HP:0000491	Keratitis	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome		17
HP:0000491	HP:0000491	Keratitis	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000491	HP:0000491	Keratitis	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome		175
HP:0000491	HP:0000491	Keratitis	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome		145
HP:0000491	HP:0000491	Keratitis	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0000491	HP:0000491	Keratitis	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0000491	HP:0000491	Keratitis	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0000491	HP:0000491	Keratitis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent	199
HP:0000491	HP:0000491	Keratitis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent	56
HP:0000491	HP:0000491	Keratitis	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0000491	HP:0000491	Keratitis	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0000491	HP:0000491	Keratitis	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0000491	HP:0000491	Keratitis	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0000491	HP:0000491	Keratitis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0000491	HP:0000491	Keratitis	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency		148
HP:0000491	HP:0000491	Keratitis	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0000491	HP:0000491	Keratitis	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0000491	HP:0000491	Keratitis	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0000491	HP:0000491	Keratitis	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0000491	HP:0000491	Keratitis	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0000491	HP:0000491	Keratitis	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000491	HP:0000491	Keratitis	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000491	HP:0000491	Keratitis	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0000491	HP:0000491	Keratitis	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000491	HP:0000491	Keratitis	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000491	HP:0000491	Keratitis	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0000491	HP:0000491	Keratitis	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000491	HP:0000491	Keratitis	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0000491	HP:0000491	Keratitis	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0000491	HP:0000491	Keratitis	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0000491	HP:0000491	Keratitis	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0000491	HP:0000491	Keratitis	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0000491	HP:0000491	Keratitis	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0000491	HP:0000491	Keratitis	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0000491	HP:0000491	Keratitis	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	60
HP:0000491	HP:0000491	Keratitis	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0000491	HP:0000491	Keratitis	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria	.	217
HP:0000491	HP:0000491	Keratitis	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent	187
HP:0000491	HP:0000491	Keratitis	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0000491	HP:0000491	Keratitis	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0000491	HP:0000491	Keratitis	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040280 - Obligate	194
HP:0000491	HP:0000491	Keratitis	0	PAX6 CL E G H	5080	8620	OMIM:148190	Keratitis, hereditary	.	194
HP:0000491	HP:0000491	Keratitis	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0000491	HP:0000491	Keratitis	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0000491	HP:0000491	Keratitis	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	47
HP:0000491	HP:0000491	Keratitis	0	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant	HP:0040282 - Frequent	155
HP:0000491	HP:0000491	Keratitis	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.	155
HP:0000491	HP:0000491	Keratitis	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0000491	HP:0000491	Keratitis	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0000491	HP:0000491	Keratitis	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0000491	HP:0000491	Keratitis	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0000491	HP:0000491	Keratitis	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0000491	HP:0000491	Keratitis	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0000491	HP:0000491	Keratitis	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0000491	HP:0000491	Keratitis	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000491	HP:0000491	Keratitis	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	98
HP:0000491	HP:0000491	Keratitis	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0000491	HP:0000491	Keratitis	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent	140
HP:0000491	HP:0000491	Keratitis	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000491	HP:0000491	Keratitis	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0000491	HP:0000491	Keratitis	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0000491	HP:0000491	Keratitis	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0000491	HP:0000491	Keratitis	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0000491	HP:0000491	Keratitis	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	34
HP:0000491	HP:0000491	Keratitis	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0000491	HP:0000491	Keratitis	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	86
HP:0000491	HP:0000491	Keratitis	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0000491	HP:0000491	Keratitis	0	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6		8
HP:0000491	HP:0001096	Keratoconjunctivitis	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000491	HP:0001096	Keratoconjunctivitis	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0000491	HP:0001096	Keratoconjunctivitis	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0000491	HP:0001096	Keratoconjunctivitis	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0000491	HP:0001096	Keratoconjunctivitis	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000491	HP:0001096	Keratoconjunctivitis	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000491	HP:0001096	Keratoconjunctivitis	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0000491	HP:0011859	Punctate keratitis	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare	170
HP:0000491	HP:0001096	Keratoconjunctivitis	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0000491	HP:0001096	Keratoconjunctivitis	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0000491	HP:0001096	Keratoconjunctivitis	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0000491	HP:0001096	Keratoconjunctivitis	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0000491	HP:0001096	Keratoconjunctivitis	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0000491	HP:0001096	Keratoconjunctivitis	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0000491	HP:0001096	Keratoconjunctivitis	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0000491	HP:0001096	Keratoconjunctivitis	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0000491	HP:0001096	Keratoconjunctivitis	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000491	HP:0001096	Keratoconjunctivitis	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0000491	HP:0001096	Keratoconjunctivitis	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0000491	HP:0001096	Keratoconjunctivitis	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0000491	HP:0001096	Keratoconjunctivitis	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	29
HP:0000491	HP:0011859	Punctate keratitis	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0000491	HP:0001096	Keratoconjunctivitis	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0000491	HP:0001096	Keratoconjunctivitis	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000491	HP:0011859	Punctate keratitis	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000491	HP:0001096	Keratoconjunctivitis	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000491	HP:0011859	Punctate keratitis	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000491	HP:0001096	Keratoconjunctivitis	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0000491	HP:0001096	Keratoconjunctivitis	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0000491	HP:0001096	Keratoconjunctivitis	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0000491	HP:0001096	Keratoconjunctivitis	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0000491	HP:0001096	Keratoconjunctivitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0000491	HP:0001096	Keratoconjunctivitis	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040281 - Very frequent	148
HP:0000491	HP:0001096	Keratoconjunctivitis	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0000491	HP:0001096	Keratoconjunctivitis	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0000491	HP:0001096	Keratoconjunctivitis	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0000491	HP:0001096	Keratoconjunctivitis	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000491	HP:0001096	Keratoconjunctivitis	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000491	HP:0001096	Keratoconjunctivitis	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0000491	HP:0001096	Keratoconjunctivitis	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000491	HP:0001096	Keratoconjunctivitis	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0000491	HP:0001096	Keratoconjunctivitis	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000491	HP:0001096	Keratoconjunctivitis	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0000491	HP:0001096	Keratoconjunctivitis	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0000491	HP:0001096	Keratoconjunctivitis	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0000491	HP:0001096	Keratoconjunctivitis	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0000491	HP:0011859	Punctate keratitis	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0000491	HP:0001096	Keratoconjunctivitis	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0000491	HP:0001096	Keratoconjunctivitis	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0000491	HP:0011859	Punctate keratitis	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare
HP:0000491	HP:0011859	Punctate keratitis	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0000491	HP:0001096	Keratoconjunctivitis	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0000491	HP:0001096	Keratoconjunctivitis	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0000491	HP:0001096	Keratoconjunctivitis	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0000491	HP:0001096	Keratoconjunctivitis	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0000491	HP:0001096	Keratoconjunctivitis	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0000491	HP:0001096	Keratoconjunctivitis	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0000491	HP:0001096	Keratoconjunctivitis	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000491	HP:0001096	Keratoconjunctivitis	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0000491	HP:0001096	Keratoconjunctivitis	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000491	HP:0001096	Keratoconjunctivitis	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare	31
HP:0000491	HP:0001096	Keratoconjunctivitis	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	41
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040283 - Occasional	129
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	HP:0040283 - Occasional	106
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	HP:0040283 - Occasional	106
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	17
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	175
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	145
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040281 - Very frequent	53
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent	70
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare	81
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0000491	HP:0001097	Keratoconjunctivitis sicca	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional

Genes (81) :ABCA12 AEBP1 AIRE ALOX12B ALOXE3 BTNL2 C4A CARS1 CCR1 CERS3 CLTCL1 COL17A1 COL4A5 COL4A6 CRLF1 DDB2 EPCAM ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 FAS FBN1 FGF10 FGFR2 FGFR3 GATA1 GJB2 GJB6 GSN GTF2E2 GTF2H5 HLA-B HLA-DRB1 HLCS IARS2 IFNGR1 IKBKG IL10 IL12A IL12A-AS1 IL23R IL6ST KLRC4 LBR MAB21L1 MBTPS2 MEFV MPLKIP MTTP NIPAL4 NLRP1 NLRP3 NOD2 NTRK1 PAX6 PERCC1 PLEC PNPLA1 POLH RNF113A RNF125 SCN9A SLC35C1 SREBF1 STAT4 TARS1 TGM1 TLR4 TP63 UBAC2 UROD UROS WAS WIPF1 XPA XPC ZEB1

Diseases (58) :ORPHA:79394 ORPHA:536532 OMIM:240300 ORPHA:797 ORPHA:117 ORPHA:33364 ORPHA:453510 ORPHA:293381 ORPHA:1018 OMIM:272430 ORPHA:910 OMIM:278740 ORPHA:92050 OMIM:601675 OMIM:278730 ORPHA:90324 OMIM:278800 OMIM:616914 ORPHA:2363 OMIM:123500 ORPHA:79277 OMIM:602540 OMIM:148210 ORPHA:477 ORPHA:85448 ORPHA:79242 OMIM:616007 OMIM:308300 ORPHA:464 OMIM:618523 ORPHA:779 OMIM:618479 ORPHA:2273 OMIM:308205 OMIM:308800 OMIM:234050 ORPHA:14 OMIM:617388 OMIM:148200 ORPHA:90340 OMIM:617321 OMIM:256800 ORPHA:2334 OMIM:148190 OMIM:226670 ORPHA:90342 OMIM:278750 OMIM:616260 OMIM:133020 ORPHA:99843 OMIM:619016 OMIM:158310 ORPHA:1896 ORPHA:95159 ORPHA:906 OMIM:278700 OMIM:278720 OMIM:613270

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen