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 vision (HP:0000504)

Parent Node:
Reduced visual acuity (HP:0007663)

..Starting node
..Visual acuity test abnormality (HP:0030532)

Term ID:

30532

Name:

Visual acuity test abnormality

Synonym:

Definition:

Comments:

Reference:

HP:0030532

Genes and Diseases:

Child Nodes:

........

Abnormal unaided visual acuity test (HP:0030533)

................... HP:0030536 Unaided visual acuity 0.1 LogMAR
................... HP:0030537 Unaided visual acuity 0.2 LogMAR
................... HP:0030538 Unaided visual acuity 0.3 LogMAR
................... HP:0030539 Unaided visual acuity 0.4 LogMAR
................... HP:0030540 Unaided visual acuity 0.5 LogMAR
................... HP:0030541 Unaided visual acuity 0.6 LogMAR
................... HP:0030542 Unaided visual acuity 0.7 LogMAR
................... HP:0030543 Unaided visual acuity 0.8 LogMAR
................... HP:0030544 Unaided visual acuity 0.9 LogMAR
................... HP:0030545 Unaided visual acuity 1.0 LogMAR
................... HP:0030546 Unaided visual acuity 1.1 LogMAR
................... HP:0030547 Unaided visual acuity 1.2 LogMAR
................... HP:0030548 Unaided visual acuity 1.3 LogMAR
................... HP:0030549 Unaided visual acuity 2.0 LogMAR
................... HP:0030550 Unaided visual acuity 3.0 LogMAR

........

Abnormal best corrected visual acuity test (HP:0030534)

................... HP:0030554 Best corrected visual acuity 0.1 LogMAR
................... HP:0030555 Best corrected visual acuity 0.2 LogMAR
................... HP:0030556 Best corrected visual acuity 0.3 LogMAR
................... HP:0030557 Best corrected visual acuity 0.4 LogMAR
................... HP:0030558 Best corrected visual acuity 0.5 LogMAR
................... HP:0030559 Best corrected visual acuity 0.7 LogMAR
................... HP:0030560 Best corrected visual acuity 0.6 LogMAR
................... HP:0030561 Best corrected visual acuity 0.8 LogMAR
................... HP:0030562 Best corrected visual acuity 0.9 LogMAR
................... HP:0030563 Best corrected visual acuity 1.0 LogMAR
................... HP:0030564 Best corrected visual acuity 1.1 LogMAR
................... HP:0030565 Best corrected visual acuity 1.2 LogMAR
................... HP:0030566 Best corrected visual acuity 1.3 LogMAR
................... HP:0030567 Best corrected visual acuity 2.0 LogMAR
................... HP:0030568 Best corrected visual acuity 3.0 LogMAR

........

Abnormal pinhole visual acuity test (HP:0030535)

................... HP:0030569 Pinhole visual acuity 0.1 LogMAR
................... HP:0030570 Pinhole visual acuity 0.2 LogMAR
................... HP:0030571 Pinhole visual acuity 0.3 LogMAR
................... HP:0030572 Pinhole visual acuity 0.4 LogMAR
................... HP:0030573 Pinhole visual acuity 0.5 LogMAR
................... HP:0030574 Pinhole visual acuity 0.6 LogMAR
................... HP:0030575 Pinhole visual acuity 0.7 LogMAR
................... HP:0030576 Pinhole visual acuity 0.8 LogMAR
................... HP:0030577 Pinhole visual acuity 0.9 LogMAR
................... HP:0030578 Pinhole visual acuity 1.0 LogMAR
................... HP:0030579 Pinhole visual acuity 1.1 LogMAR
................... HP:0030580 Pinhole visual acuity 1.2 LogMAR
................... HP:0030581 Pinhole visual acuity 1.3 LogMAR
................... HP:0030582 Pinhole visual acuity 2.0 LogMAR
................... HP:0030583 Pinhole visual acuity 3.0 LogMAR

........

Visual acuity light perception with projection (HP:0030551)

........

Visual acuity light perception without projection (HP:0030552)

........

Visual acuity no light perception (HP:0030553)

Sister Nodes:

Amblyopia (HP:0000646)

Sudden loss of visual acuity (HP:0001117)

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:0030532	HP:0030532	Visual acuity test abnormality	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0030532	HP:0030532	Visual acuity test abnormality	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0030532	HP:0030532	Visual acuity test abnormality	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0030532	HP:0030532	Visual acuity test abnormality	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0030532	HP:0030532	Visual acuity test abnormality	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome		125
HP:0030532	HP:0030532	Visual acuity test abnormality	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0030532	HP:0030532	Visual acuity test abnormality	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia		194
HP:0030532	HP:0030532	Visual acuity test abnormality	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0030532	HP:0030532	Visual acuity test abnormality	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0030532	HP:0030532	Visual acuity test abnormality	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0030532	HP:0030532	Visual acuity test abnormality	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0030532	HP:0030532	Visual acuity test abnormality	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0030532	HP:0030532	Visual acuity test abnormality	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0030532	HP:0030532	Visual acuity test abnormality	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0030532	HP:0030532	Visual acuity test abnormality	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0030532	HP:0030532	Visual acuity test abnormality	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0030532	HP:0030532	Visual acuity test abnormality	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0030532	HP:0030552	Visual acuity light perception without projection	1	CL E G H
HP:0030532	HP:0030535	Abnormal pinhole visual acuity test	1	CL E G H
HP:0030532	HP:0030533	Abnormal unaided visual acuity test	1	CL E G H
HP:0030532	HP:0030553	Visual acuity no light perception	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0030532	HP:0030534	Abnormal best corrected visual acuity test	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040281 - Very frequent	20
HP:0030532	HP:0030551	Visual acuity light perception with projection	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional	125
HP:0030532	HP:0030534	Abnormal best corrected visual acuity test	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040281 - Very frequent	194
HP:0030532	HP:0030534	Abnormal best corrected visual acuity test	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0030532	HP:0030580	Pinhole visual acuity 1.2 LogMAR	2	CL E G H
HP:0030532	HP:0030546	Unaided visual acuity 1.1 LogMAR	2	CL E G H
HP:0030532	HP:0030567	Best corrected visual acuity 2.0 LogMAR	2	CL E G H
HP:0030532	HP:0030554	Best corrected visual acuity 0.1 LogMAR	2	CL E G H
HP:0030532	HP:0030573	Pinhole visual acuity 0.5 LogMAR	2	CL E G H
HP:0030532	HP:0030539	Unaided visual acuity 0.4 LogMAR	2	CL E G H
HP:0030532	HP:0030560	Best corrected visual acuity 0.6 LogMAR	2	CL E G H
HP:0030532	HP:0030579	Pinhole visual acuity 1.1 LogMAR	2	CL E G H
HP:0030532	HP:0030545	Unaided visual acuity 1.0 LogMAR	2	CL E G H
HP:0030532	HP:0030566	Best corrected visual acuity 1.3 LogMAR	2	CL E G H
HP:0030532	HP:0030572	Pinhole visual acuity 0.4 LogMAR	2	CL E G H
HP:0030532	HP:0030538	Unaided visual acuity 0.3 LogMAR	2	CL E G H
HP:0030532	HP:0030559	Best corrected visual acuity 0.7 LogMAR	2	CL E G H
HP:0030532	HP:0030578	Pinhole visual acuity 1.0 LogMAR	2	CL E G H
HP:0030532	HP:0030544	Unaided visual acuity 0.9 LogMAR	2	CL E G H
HP:0030532	HP:0030565	Best corrected visual acuity 1.2 LogMAR	2	CL E G H
HP:0030532	HP:0030550	Unaided visual acuity 3.0 LogMAR	2	CL E G H
HP:0030532	HP:0030571	Pinhole visual acuity 0.3 LogMAR	2	CL E G H
HP:0030532	HP:0030537	Unaided visual acuity 0.2 LogMAR	2	CL E G H
HP:0030532	HP:0030558	Best corrected visual acuity 0.5 LogMAR	2	CL E G H
HP:0030532	HP:0030577	Pinhole visual acuity 0.9 LogMAR	2	CL E G H
HP:0030532	HP:0030543	Unaided visual acuity 0.8 LogMAR	2	CL E G H
HP:0030532	HP:0030564	Best corrected visual acuity 1.1 LogMAR	2	CL E G H
HP:0030532	HP:0030583	Pinhole visual acuity 3.0 LogMAR	2	CL E G H
HP:0030532	HP:0030549	Unaided visual acuity 2.0 LogMAR	2	CL E G H
HP:0030532	HP:0030570	Pinhole visual acuity 0.2 LogMAR	2	CL E G H
HP:0030532	HP:0030536	Unaided visual acuity 0.1 LogMAR	2	CL E G H
HP:0030532	HP:0030557	Best corrected visual acuity 0.4 LogMAR	2	CL E G H
HP:0030532	HP:0030576	Pinhole visual acuity 0.8 LogMAR	2	CL E G H
HP:0030532	HP:0030542	Unaided visual acuity 0.7 LogMAR	2	CL E G H
HP:0030532	HP:0030563	Best corrected visual acuity 1.0 LogMAR	2	CL E G H
HP:0030532	HP:0030548	Unaided visual acuity 1.3 LogMAR	2	CL E G H
HP:0030532	HP:0030582	Pinhole visual acuity 2.0 LogMAR	2	CL E G H
HP:0030532	HP:0030569	Pinhole visual acuity 0.1 LogMAR	2	CL E G H
HP:0030532	HP:0030556	Best corrected visual acuity 0.3 LogMAR	2	CL E G H
HP:0030532	HP:0030575	Pinhole visual acuity 0.7 LogMAR	2	CL E G H
HP:0030532	HP:0030541	Unaided visual acuity 0.6 LogMAR	2	CL E G H
HP:0030532	HP:0030562	Best corrected visual acuity 0.9 LogMAR	2	CL E G H
HP:0030532	HP:0030547	Unaided visual acuity 1.2 LogMAR	2	CL E G H
HP:0030532	HP:0030581	Pinhole visual acuity 1.3 LogMAR	2	CL E G H
HP:0030532	HP:0030568	Best corrected visual acuity 3.0 LogMAR	2	CL E G H
HP:0030532	HP:0030555	Best corrected visual acuity 0.2 LogMAR	2	CL E G H
HP:0030532	HP:0030574	Pinhole visual acuity 0.6 LogMAR	2	CL E G H
HP:0030532	HP:0030540	Unaided visual acuity 0.5 LogMAR	2	CL E G H
HP:0030532	HP:0030561	Best corrected visual acuity 0.8 LogMAR	2	CL E G H

Genes (17) :AKT1 APC BAP1 C1QTNF5 LRP5 NF2 PAX6 PDGFB PIK3CA POU3F4 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 TUBB3

Diseases (7) :ORPHA:2495 ORPHA:99818 ORPHA:67042 ORPHA:2788 ORPHA:137902 ORPHA:1435 ORPHA:300570

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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