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)

Parent Node:
Myopia (HP:0000545)

..Starting node
..Moderate myopia (HP:0031624)

Term ID:

31624

Name:

Moderate myopia

Synonym:

Definition:

A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.

Comments:

Reference:

HP:0031624

Genes and Diseases:

Child Nodes:

Sister Nodes:

Axial myopia (HP:0031730)

High myopia (HP:0011003)

Latent myopia (HP:0500066)

Mild myopia (HP:0025573)

obsolete Congenital myopia (HP:0008012)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031624	HP:0031624	Moderate myopia	0	COL9A3 CL E G H	1299	2219	OMIM:620022		137
HP:0031624	HP:0031624	Moderate myopia	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia	493
HP:0031624	HP:0031624	Moderate myopia	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0031624	HP:0031624	Moderate myopia	0	H4C5 CL E G H	8367	4790	OMIM:619950

Genes (4) :COL9A3 FLNA H4C3 H4C5

Diseases (4) :OMIM:620022 ORPHA:555877 OMIM:619758 OMIM:619950

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