Human Phenotype Ontology 
Grandparent Node:
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Conjunctivitis (HP:0000509)help
Grandparent Node:
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Keratitis (HP:0000491)help
Parent Node:
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Keratoconjunctivitis (HP:0001096)help
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Keratoconjunctivitis sicca (HP:0001097)help
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: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001097HP:0001097Keratoconjunctivitis sicca0B2M CL E G H567314652ORPHA132914109700
HP:0001097HP:0001097Keratoconjunctivitis sicca0B2M CL E G H567314652ORPHA139914109700
HP:0001097HP:0001097Keratoconjunctivitis sicca0FOXE3 CL E G H230188632ORPHA11523808601094
HP:0001097HP:0001097Keratoconjunctivitis sicca0FOXE3 CL E G H230188632ORPHA11763808601094
HP:0001097HP:0001097Keratoconjunctivitis sicca0GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14824284121011
HP:0001097HP:0001097Keratoconjunctivitis sicca0GJB2 CL E G H2706148210Keratitis-ichthyosis-deafness syndrome, autosomal dominant148210C1835678OMIM14604284121011
HP:0001097HP:0001097Keratoconjunctivitis sicca0LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA12256518600024
HP:0001097HP:0001097Keratoconjunctivitis sicca0LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA12566518600024
HP:0001097HP:0001097Keratoconjunctivitis sicca0LMNA CL E G H4000740Aortic arch interruptionORPHA113476636150330
HP:0001097HP:0001097Keratoconjunctivitis sicca0LMNA CL E G H4000740Aortic arch interruptionORPHA114866636150330
HP:0001097HP:0001097Keratoconjunctivitis sicca0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM138714374606636
HP:0001097HP:0001097Keratoconjunctivitis sicca0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM120214374606636
HP:0001097HP:0001097Keratoconjunctivitis sicca0PITX3 CL E G H530988632ORPHA1419006602669
HP:0001097HP:0001097Keratoconjunctivitis sicca0PITX3 CL E G H530988632ORPHA1399006602669
HP:0001097HP:0001097Keratoconjunctivitis sicca0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM18021150610432
HP:0001097HP:0001097Keratoconjunctivitis sicca0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM17621150610432
HP:0001097HP:0001097Keratoconjunctivitis sicca0SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM1170810597603415
HP:0001097HP:0001097Keratoconjunctivitis sicca0SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM1143810597603415
HP:0001097HP:0001097Keratoconjunctivitis sicca0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA116712877606480
HP:0001097HP:0001097Keratoconjunctivitis sicca0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA114912877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001097HP:0001097Keratoconjunctivitis sicca0BTNL2 CL E G H56244797ORPHA0191142606000
HP:0001097HP:0001097Keratoconjunctivitis sicca0C4A CL E G H720117ORPHA0331323120810
HP:0001097HP:0001097Keratoconjunctivitis sicca0CCR1 CL E G H1230117ORPHA0191602601159
HP:0001097HP:0001097Keratoconjunctivitis sicca0ERAP1 CL E G H51752117ORPHA09018173606832
HP:0001097HP:0001097Keratoconjunctivitis sicca0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM04793434126340
HP:0001097HP:0001097Keratoconjunctivitis sicca0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM03603434126340
HP:0001097HP:0001097Keratoconjunctivitis sicca0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM04793434126340
HP:0001097HP:0001097Keratoconjunctivitis sicca0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM03603434126340
HP:0001097HP:0001097Keratoconjunctivitis sicca0FAS CL E G H355117ORPHA022711920134637
HP:0001097HP:0001097Keratoconjunctivitis sicca0FAS CL E G H355117ORPHA027511920134637
HP:0001097HP:0001097Keratoconjunctivitis sicca0HLA-B CL E G H3106117ORPHA0184932142830
HP:0001097HP:0001097Keratoconjunctivitis sicca0HLA-DRB1 CL E G H3123797ORPHA0244948142857
HP:0001097HP:0001097Keratoconjunctivitis sicca0IL10 CL E G H3586117ORPHA0815962124092
HP:0001097HP:0001097Keratoconjunctivitis sicca0IL10 CL E G H3586117ORPHA0625962124092
HP:0001097HP:0001097Keratoconjunctivitis sicca0IL12A CL E G H3592117ORPHA0285969161560
HP:0001097HP:0001097Keratoconjunctivitis sicca0IL12A-AS1 CL E G H101928376117ORPHA013490940
HP:0001097HP:0001097Keratoconjunctivitis sicca0IL23R CL E G H149233117ORPHA010619100607562
HP:0001097HP:0001097Keratoconjunctivitis sicca0IL23R CL E G H149233117ORPHA05719100607562
HP:0001097HP:0001097Keratoconjunctivitis sicca0KLRC4 CL E G H8302117ORPHA0376377602893
HP:0001097HP:0001097Keratoconjunctivitis sicca0MEFV CL E G H4210117ORPHA07956998608107
HP:0001097HP:0001097Keratoconjunctivitis sicca0MEFV CL E G H4210117ORPHA07376998608107
HP:0001097HP:0001097Keratoconjunctivitis sicca0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM09216002609188
HP:0001097HP:0001097Keratoconjunctivitis sicca0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM06316002609188
HP:0001097HP:0001097Keratoconjunctivitis sicca0STAT4 CL E G H6775117ORPHA06211365600558
HP:0001097HP:0001097Keratoconjunctivitis sicca0STAT4 CL E G H6775117ORPHA012011365600558
HP:0001097HP:0001097Keratoconjunctivitis sicca0TLR4 CL E G H7099117ORPHA05611850603030
HP:0001097HP:0001097Keratoconjunctivitis sicca0TLR4 CL E G H7099117ORPHA05411850603030
HP:0001097HP:0001097Keratoconjunctivitis sicca0TNXB CL E G H7148285Impossible syndromeORPHA075211976600985
HP:0001097HP:0001097Keratoconjunctivitis sicca0TNXB CL E G H7148285Impossible syndromeORPHA073911976600985
HP:0001097HP:0001097Keratoconjunctivitis sicca0UBAC2 CL E G H337867117ORPHA079204860
HP:0001097HP:0001097Keratoconjunctivitis sicca0UBAC2 CL E G H337867117ORPHA082204860


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 August 2021 release.