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:
Abnormal eye physiology (HP:0012373)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Abnormal sclera morphology (HP:0000591)

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

..Starting node
..Scleritis (HP:0100532)

Term ID:

100532

Name:

Scleritis

Synonym:

Inflammation of the outer white part of the eye

Definition:

Inflammation of the sclera.

Comments:

Reference:

HP:0100532

Genes and Diseases:

Child Nodes:

Sister Nodes:

Blepharitis (HP:0000498)

Conjunctivitis (HP:0000509)

Episcleritis (HP:0100534)

Keratitis (HP:0000491)

Uveitis (HP:0000554)

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:0100532	HP:0100532	Scleritis	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	29
HP:0100532	HP:0100532	Scleritis	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0100532	HP:0100532	Scleritis	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare	31
HP:0100532	HP:0100532	Scleritis	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare	41

Genes (4) :GATA1 MBTPS2 UROD UROS

Diseases (3) :ORPHA:79277 ORPHA:2273 ORPHA:95159

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