Human Phenotype Ontology

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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 corneal epithelium morphology (HP:0011495)

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

Parent Node:
Conjunctivitis (HP:0000509)

Parent Node:
Keratitis (HP:0000491)

..Starting node
..Keratoconjunctivitis (HP:0001096)

Term ID:

1096

Name:

Keratoconjunctivitis

Synonym:

Definition:

Inflammation of the cornea and conjunctiva.

Comments:

Reference:

HP:0001096

Genes and Diseases:

Child Nodes:

........

Keratoconjunctivitis sicca (HP:0001097)

Sister Nodes:

Punctate keratitis (HP:0011859)

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:0001096	HP:0001096	Keratoconjunctivitis	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0001096	HP:0001096	Keratoconjunctivitis	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0001096	HP:0001096	Keratoconjunctivitis	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0001096	HP:0001096	Keratoconjunctivitis	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0001096	HP:0001096	Keratoconjunctivitis	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001096	HP:0001096	Keratoconjunctivitis	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0001096	HP:0001096	Keratoconjunctivitis	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0001096	HP:0001096	Keratoconjunctivitis	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0001096	HP:0001096	Keratoconjunctivitis	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001096	HP:0001096	Keratoconjunctivitis	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0001096	HP:0001096	Keratoconjunctivitis	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0001096	HP:0001096	Keratoconjunctivitis	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001096	HP:0001096	Keratoconjunctivitis	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0001096	HP:0001096	Keratoconjunctivitis	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0001096	HP:0001096	Keratoconjunctivitis	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0001096	HP:0001096	Keratoconjunctivitis	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001096	HP:0001096	Keratoconjunctivitis	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	17
HP:0001096	HP:0001096	Keratoconjunctivitis	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	175
HP:0001096	HP:0001096	Keratoconjunctivitis	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional	145
HP:0001096	HP:0001096	Keratoconjunctivitis	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	29
HP:0001096	HP:0001096	Keratoconjunctivitis	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0001096	HP:0001096	Keratoconjunctivitis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0001096	HP:0001096	Keratoconjunctivitis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0001096	HP:0001096	Keratoconjunctivitis	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0001096	HP:0001096	Keratoconjunctivitis	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001096	HP:0001096	Keratoconjunctivitis	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001096	HP:0001096	Keratoconjunctivitis	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0001096	HP:0001096	Keratoconjunctivitis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0001096	HP:0001096	Keratoconjunctivitis	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040281 - Very frequent	148
HP:0001096	HP:0001096	Keratoconjunctivitis	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0001096	HP:0001096	Keratoconjunctivitis	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0001096	HP:0001096	Keratoconjunctivitis	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0001096	HP:0001096	Keratoconjunctivitis	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0001096	HP:0001096	Keratoconjunctivitis	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0001096	HP:0001096	Keratoconjunctivitis	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0001096	HP:0001096	Keratoconjunctivitis	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0001096	HP:0001096	Keratoconjunctivitis	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome		70
HP:0001096	HP:0001096	Keratoconjunctivitis	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0001096	HP:0001096	Keratoconjunctivitis	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0001096	HP:0001096	Keratoconjunctivitis	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001096	HP:0001096	Keratoconjunctivitis	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0001096	HP:0001096	Keratoconjunctivitis	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0001096	HP:0001096	Keratoconjunctivitis	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001096	HP:0001096	Keratoconjunctivitis	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0001096	HP:0001096	Keratoconjunctivitis	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001096	HP:0001096	Keratoconjunctivitis	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0001096	HP:0001096	Keratoconjunctivitis	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0001096	HP:0001096	Keratoconjunctivitis	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0001096	HP:0001096	Keratoconjunctivitis	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0001096	HP:0001096	Keratoconjunctivitis	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0001096	HP:0001096	Keratoconjunctivitis	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001096	HP:0001096	Keratoconjunctivitis	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0001096	HP:0001096	Keratoconjunctivitis	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0001096	HP:0001096	Keratoconjunctivitis	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare	31
HP:0001096	HP:0001096	Keratoconjunctivitis	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	41
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040283 - Occasional	129
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	HP:0040283 - Occasional	106
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	HP:0040283 - Occasional	106
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	17
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	175
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	145
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040281 - Very frequent	53
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent	70
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare	81
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0001096	HP:0001097	Keratoconjunctivitis sicca	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional

Genes (50) :AEBP1 AIRE BTNL2 C4A CARS1 CCR1 COL17A1 ERAP1 ERCC2 ERCC3 ERCC6 ERCC8 FAS FBN1 FGF10 FGFR2 FGFR3 GATA1 GJB2 GJB6 GSN GTF2E2 GTF2H5 HLA-B HLA-DRB1 HLCS IARS2 IFNGR1 IL10 IL12A IL12A-AS1 IL23R KLRC4 LBR MAB21L1 MEFV MPLKIP MTTP NLRP1 NOD2 RNF113A RNF125 SCN9A SREBF1 STAT4 TARS1 TLR4 UBAC2 UROD UROS

Diseases (28) :ORPHA:536532 OMIM:240300 ORPHA:797 ORPHA:117 ORPHA:33364 ORPHA:293381 OMIM:601675 OMIM:278730 ORPHA:90324 OMIM:616914 ORPHA:2363 ORPHA:79277 OMIM:148210 ORPHA:477 ORPHA:85448 ORPHA:79242 OMIM:616007 ORPHA:779 OMIM:618479 OMIM:234050 ORPHA:14 OMIM:617388 OMIM:617321 OMIM:616260 OMIM:133020 OMIM:619016 OMIM:158310 ORPHA:95159

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

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