Human Phenotype Ontology 
Grandparent Node:
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Abnormal corneal epithelium morphology (HP:0011495)help
Grandparent Node:
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Inflammatory abnormality of the eye (HP:0100533)help
Parent Node:
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Conjunctivitis (HP:0000509)help
Parent Node:
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Keratitis (HP:0000491)help
..Starting node
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Keratoconjunctivitis (HP:0001096)help
Term ID: 1096
Name: Keratoconjunctivitis
Synonym:
Definition: Inflammation of the cornea and conjunctiva.
Comments:
Reference: HP:0001096
Genes and Diseases:
 
       Child Nodes:
........expandKeratoconjunctivitis sicca (HP:0001097) help

 Sister Nodes: 
..expandPunctate keratitis (HP:0011859) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001096HP:0001096Keratoconjunctivitis0BTD CL E G H68679241ORPHA13661122609019
HP:0001096HP:0001096Keratoconjunctivitis0BTD CL E G H68679241ORPHA14091122609019
HP:0001096HP:0001096Keratoconjunctivitis0HLCS CL E G H314179242ORPHA15814976609018
HP:0001096HP:0001096Keratoconjunctivitis0HLCS CL E G H314179242ORPHA16234976609018
HP:0001096HP:0001096Keratoconjunctivitis0PLG CL E G H534097231ORPHA11599071173350
HP:0001096HP:0001096Keratoconjunctivitis0PLG CL E G H534097231ORPHA11659071173350
HP:0001096HP:0001097Keratoconjunctivitis sicca1BTD CL E G H68679241ORPHA14091122609019
HP:0001096HP:0001097Keratoconjunctivitis sicca1BTD CL E G H68679241ORPHA13661122609019
HP:0001096HP:0001097Keratoconjunctivitis sicca1HLCS CL E G H314179242ORPHA16234976609018
HP:0001096HP:0001097Keratoconjunctivitis sicca1HLCS CL E G H314179242ORPHA15814976609018
HP:0001096HP:0001097Keratoconjunctivitis sicca1PLG CL E G H534097231ORPHA11659071173350
HP:0001096HP:0001097Keratoconjunctivitis sicca1PLG CL E G H534097231ORPHA11599071173350
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001096HP:0001096Keratoconjunctivitis0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM0641360607358
HP:0001096HP:0001096Keratoconjunctivitis0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM0718360607358
HP:0001096HP:0001096Keratoconjunctivitis0GATA1 CL E G H262379277ORPHA02834170305371
HP:0001096HP:0001096Keratoconjunctivitis0GATA1 CL E G H262379277ORPHA03044170305371
HP:0001096HP:0001096Keratoconjunctivitis0UROS CL E G H739079277ORPHA013812592606938
HP:0001096HP:0001096Keratoconjunctivitis0UROS CL E G H739079277ORPHA015212592606938
HP:0001096HP:0001097Keratoconjunctivitis sicca1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM0718360607358
HP:0001096HP:0001097Keratoconjunctivitis sicca1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM0641360607358
HP:0001096HP:0001097Keratoconjunctivitis sicca1GATA1 CL E G H262379277ORPHA03044170305371
HP:0001096HP:0001097Keratoconjunctivitis sicca1GATA1 CL E G H262379277ORPHA02834170305371
HP:0001096HP:0001097Keratoconjunctivitis sicca1UROS CL E G H739079277ORPHA015212592606938
HP:0001096HP:0001097Keratoconjunctivitis sicca1UROS CL E G H739079277ORPHA013812592606938


Genes (35) :AIRE B2M BTD BTNL2 C4A CCR1 ERAP1 ERCC2 FAS FOXE3 GATA1 GJB2 HLA-B HLA-DRB1 HLCS IL10 IL12A IL12A-AS1 IL23R KLRC4 LBR LMNA MEFV MPLKIP NLRP1 PITX3 PLG RNF125 SCN9A STAT4 TLR4 TNXB UBAC2 UROS ZMPSTE24

Diseases (19) :240300 79241 79277 79242 97231 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.