Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Myopic astigmatism (HP:0500041)

Term ID:

500041

Name:

Myopic astigmatism

Synonym:

Definition:

A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.

Comments:

Reference:

HP:0500041

Genes and Diseases:

Child Nodes:

Sister Nodes:

Against the rule astigmatism (HP:0031789)

Corneal astigmatism (HP:0025612)

Hyperopic astigmatism (HP:0000484)

Irregular astigmatism (HP:0031792)

Lenticular astigmatism (HP:0031791)

Mixed astigmatism (HP:0031790)

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:0500041	HP:0500041	Myopic astigmatism	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0500041	HP:0500041	Myopic astigmatism	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0500041	HP:0500041	Myopic astigmatism	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0500041	HP:0500041	Myopic astigmatism	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0500041	HP:0500041	Myopic astigmatism	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0500041	HP:0500041	Myopic astigmatism	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0500041	HP:0500041	Myopic astigmatism	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy

Genes (7) :ARPC4 CNGA3 COL1A2 KIF11 MAPK8IP3 TFE3 VARS1

Diseases (7) :OMIM:620141 OMIM:216900 ORPHA:230851 OMIM:152950 OMIM:618443 OMIM:301066 OMIM:617802

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

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