Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Abnormal sclera morphology (HP:0000591)help
Parent Node:
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Inflammatory abnormality of the eye (HP:0100533)help
..Starting node
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Episcleritis (HP:0100534)help
Term ID: 100534
Name: Episcleritis
Synonym: Inflammation of the thin layer on top of the white part of eye
Definition: Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.
Comments:
Reference: HP:0100534
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBlepharitis (HP:0000498) help
..expandConjunctivitis (HP:0000509) help
..expandKeratitis (HP:0000491) help
..expandScleritis (HP:0100532) help
..expandUveitis (HP:0000554) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100534HP:0100534Episcleritis0DNASE1L3 CL E G H177636412ORPHA110442959602244
HP:0100534HP:0100534Episcleritis0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114258316400606416
HP:0100534HP:0100534Episcleritis0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM1111209545177046
HP:0100534HP:0100534Episcleritis0SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM12624723096612373
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100534HP:0100534Episcleritis0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02622815455300294


Genes (5) :DNASE1L3 MBTPS2 NLRP3 PSMB8 SLC29A3

Diseases (5) :36412 2273 575 256040 602782
 

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