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:
Abnormality of refraction (HP:0000539)

Grandparent Node:
Abnormality of the curvature of the cornea (HP:0100691)

Parent Node:
Astigmatism (HP:0000483)

..Starting node
..Irregular astigmatism (HP:0031792)

Term ID:

31792

Name:

Irregular astigmatism

Synonym:

Definition:

A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.

Comments:

Reference:

HP:0031792

Genes and Diseases:

Child Nodes:

Sister Nodes:

Against the rule astigmatism (HP:0031789)

Corneal astigmatism (HP:0025612)

Hyperopic astigmatism (HP:0000484)

Lenticular astigmatism (HP:0031791)

Mixed astigmatism (HP:0031790)

Myopic astigmatism (HP:0500041)

Oblique astigmatism (HP:0031787)

With the rule astigmatism (HP:0031788)

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:0031792	HP:0031792	Irregular astigmatism	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040282 - Frequent	129
HP:0031792	HP:0031792	Irregular astigmatism	0	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040283 - Occasional	66

Genes (2) :COL17A1 SLC4A11

Diseases (2) :ORPHA:293381 ORPHA:293603

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