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)

Parent Node:
Abnormality of refraction (HP:0000539)

..Starting node
..Anisometropia (HP:0012803)

Term ID:

12803

Name:

Anisometropia

Synonym:

Definition:

Inequality of refractive power of the two eyes.

Comments:

Reference:

HP:0012803

Genes and Diseases:

Child Nodes:

Sister Nodes:

Astigmatism (HP:0000483)

Hypermetropia (HP:0000540)

Myopia (HP:0000545)

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:0012803	HP:0012803	Anisometropia	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0012803	HP:0012803	Anisometropia	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0012803	HP:0012803	Anisometropia	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0012803	HP:0012803	Anisometropia	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0012803	HP:0012803	Anisometropia	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0012803	HP:0012803	Anisometropia	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0012803	HP:0012803	Anisometropia	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis

Genes (7) :AP1G1 CLCN3 COL25A1 KRAS RERE SLC35A2 ZFHX4

Diseases (6) :OMIM:619467 OMIM:619512 ORPHA:91411 OMIM:600268 ORPHA:494344 ORPHA:356961

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