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 the eye (HP:0000478)

Parent Node:
Abnormal eye physiology (HP:0012373)

..Starting node
..Abnormal visual accommodation (HP:0030800)

Term ID:

30800

Name:

Abnormal visual accommodation

Synonym:

Definition:

An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.

Comments:

Reference:

HP:0030800

Genes and Diseases:

Child Nodes:

........

Reduced visual accommodation (HP:0030801)

Sister Nodes:

Abnormal extraocular muscle physiology (HP:0025590)

Abnormal eyelid physiology (HP:0031879)

Abnormal intraocular pressure (HP:0012632)

Abnormal pupillary function (HP:0007686)

Abnormal visual electrophysiology (HP:0030453)

Abnormality of eye movement (HP:0000496)

Abnormality of refraction (HP:0000539)

Abnormality of vision (HP:0000504)

Asthenopia (HP:0031590)

Congenital stationary cone dysfunction (HP:0030637)

Glaucoma (HP:0000501)

Hemorrhage of the eye (HP:0011885)

Inflammatory abnormality of the eye (HP:0100533)

Lacrimation abnormality (HP:0000632)

Ocular pain (HP:0200026)

Ptosis (HP:0000508)

Staring gaze (HP:0025401)

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:0030800	HP:0030800	Abnormal visual accommodation	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	184
HP:0030800	HP:0030800	Abnormal visual accommodation	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	1
HP:0030800	HP:0030800	Abnormal visual accommodation	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	16
HP:0030800	HP:0030800	Abnormal visual accommodation	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	7
HP:0030800	HP:0030800	Abnormal visual accommodation	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	19
HP:0030800	HP:0030801	Reduced visual accommodation	1	CL E G H

Genes (5) :BAP1 CYSLTR2 GNA11 GNAQ SF3B1

Diseases (1) :ORPHA:39044

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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