Human Phenotype Ontology

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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:
Conjunctivitis (HP:0000509)

Grandparent Node:
Keratitis (HP:0000491)

Parent Node:
Keratoconjunctivitis (HP:0001096)

..Starting node
..Keratoconjunctivitis sicca (HP:0001097)

Term ID:

1097

Name:

Keratoconjunctivitis sicca

Synonym:

Dry eye syndrome; Dry eyes; Keratitis sicca; Xerophthalmia

Definition:

Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.

Comments:

Reference:

HP:0001097

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	B2M CL E G H	567	314652				ORPHA	1	4	914	109700
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	FOXE3 CL E G H	2301	88632				ORPHA	1	31	3808	601094
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	GJB2 CL E G H	2706	148210	Keratitis-ichthyosis-deafness syndrome, autosomal dominant	148210	C1835678	OMIM	1	410	4284	121011
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	LBR CL E G H	3930	779	Arthrogryposis due to muscular dystrophy			ORPHA	1	28	6518	600024
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	574	6636	150330
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	18	14374	606636
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	PITX3 CL E G H	5309	88632				ORPHA	1	15	9006	602669
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	RNF125 CL E G H	54941	616260	Tenorio syndrome	616260	C4015710	OMIM	1	4	21150	610432
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	SCN9A CL E G H	6335	133020	Primary erythromelalgia	133020	C0014805	OMIM	1	129	10597	603415
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	34	12877	606480
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	BTNL2 CL E G H	56244	797				ORPHA	0	11	1142	606000
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	C4A CL E G H	720	117				ORPHA	0	9	1323	120810
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	CCR1 CL E G H	1230	117				ORPHA	0	1	1602	601159
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	ERAP1 CL E G H	51752	117				ORPHA	0	11	18173	606832
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	ERCC2 CL E G H	2068	601675	Trichothiodystrophy 1, photosensitive	601675	C1866504	OMIM	0	108	3434	126340
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	0	108	3434	126340
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	FAS CL E G H	355	117				ORPHA	0	142	11920	134637
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	HLA-B CL E G H	3106	117				ORPHA	0	53	4932	142830
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	HLA-DRB1 CL E G H	3123	797				ORPHA	0	26	4948	142857
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	IL10 CL E G H	3586	117				ORPHA	0	21	5962	124092
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	IL12A CL E G H	3592	117				ORPHA	0	2	5969	161560
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	IL12A-AS1 CL E G H	101928376	117				ORPHA	0		49094	0
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	IL23R CL E G H	149233	117				ORPHA	0	9	19100	607562
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	KLRC4 CL E G H	8302	117				ORPHA	0		6377	602893
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	MEFV CL E G H	4210	117				ORPHA	0	189	6998	608107
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	0	19	16002	609188
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	STAT4 CL E G H	6775	117				ORPHA	0	6	11365	600558
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	TLR4 CL E G H	7099	117				ORPHA	0	18	11850	603030
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	TNXB CL E G H	7148	285	Impossible syndrome			ORPHA	0	38	11976	600985
HP:0001097	HP:0001097	Keratoconjunctivitis sicca	0	UBAC2 CL E G H	337867	117				ORPHA	0	1	20486	0

Genes (29) :B2M BTNL2 C4A CCR1 ERAP1 ERCC2 FAS FOXE3 GJB2 HLA-B HLA-DRB1 IL10 IL12A IL12A-AS1 IL23R KLRC4 LBR LMNA MEFV MPLKIP NLRP1 PITX3 RNF125 SCN9A STAT4 TLR4 TNXB UBAC2 ZMPSTE24

Diseases (14) :314652 797 117 601675 278730 88632 148210 779 740 234050 617388 616260 133020 285

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

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