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:
Visual field defect (HP:0001123)

Parent Node:
Constriction of peripheral visual field (HP:0001133)

..Starting node
..Peripheral visual field loss (HP:0007994)

Term ID:

7994

Name:

Peripheral visual field loss

Synonym:

Kalnienk vision; Loss of peripheral vision; Tunnel vision

Definition:

Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.

Comments:

Reference:

HP:0007994

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mild constriction of peripheral visual field (HP:0030522)

Moderate constriction of peripheral visual field (HP:0030525)

obsolete Peripheral visual field constriction with 30-39 degrees central field preserved (HP:0030524)

obsolete Peripheral visual field constriction with 40-50 degrees central field preserved (HP:0030523)

Severe constriction of peripheral visual field (HP:0030526)

Very severe constriction of peripheral visual field (HP:0030527)

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:0007994	HP:0007994	Peripheral visual field loss	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0007994	HP:0007994	Peripheral visual field loss	0	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75	.	2
HP:0007994	HP:0007994	Peripheral visual field loss	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0007994	HP:0007994	Peripheral visual field loss	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0007994	HP:0007994	Peripheral visual field loss	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0007994	HP:0007994	Peripheral visual field loss	0	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49		44
HP:0007994	HP:0007994	Peripheral visual field loss	0	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45	.	164
HP:0007994	HP:0007994	Peripheral visual field loss	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2	.	158
HP:0007994	HP:0007994	Peripheral visual field loss	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0007994	HP:0007994	Peripheral visual field loss	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent	101
HP:0007994	HP:0007994	Peripheral visual field loss	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040283 - Occasional	82
HP:0007994	HP:0007994	Peripheral visual field loss	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent	54
HP:0007994	HP:0007994	Peripheral visual field loss	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.	124
HP:0007994	HP:0007994	Peripheral visual field loss	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0007994	HP:0007994	Peripheral visual field loss	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0007994	HP:0007994	Peripheral visual field loss	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0007994	HP:0007994	Peripheral visual field loss	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	70
HP:0007994	HP:0007994	Peripheral visual field loss	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	62
HP:0007994	HP:0007994	Peripheral visual field loss	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent	47
HP:0007994	HP:0007994	Peripheral visual field loss	0	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43		116
HP:0007994	HP:0007994	Peripheral visual field loss	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0007994	HP:0007994	Peripheral visual field loss	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41		110
HP:0007994	HP:0007994	Peripheral visual field loss	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	159
HP:0007994	HP:0007994	Peripheral visual field loss	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	32
HP:0007994	HP:0007994	Peripheral visual field loss	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	107
HP:0007994	HP:0007994	Peripheral visual field loss	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	47
HP:0007994	HP:0007994	Peripheral visual field loss	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0007994	HP:0007994	Peripheral visual field loss	0	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87		129
HP:0007994	HP:0007994	Peripheral visual field loss	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	129
HP:0007994	HP:0007994	Peripheral visual field loss	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0007994	HP:0007994	Peripheral visual field loss	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0007994	HP:0007994	Peripheral visual field loss	0	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10	.	48
HP:0007994	HP:0007994	Peripheral visual field loss	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040284 - Very rare	493
HP:0007994	HP:0007994	Peripheral visual field loss	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0007994	HP:0007994	Peripheral visual field loss	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	48
HP:0007994	HP:0007994	Peripheral visual field loss	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.	27

Genes (34) :ABCA4 AGBL5 ARL6 BBS1 CCDC28B CNGA1 CNGB1 CRX CWC27 CYP1B1 DLAT EFEMP1 GUCY2D IDS IFT140 LCA5 LRAT MYOC PDE6A POU3F4 PROM1 PRPH2 RDH5 RHO RLBP1 RNU4ATAC RPE65 RRM2B SDHA SEMA4A SH3TC2 SLC6A6 SPATA7 ZNF513

Diseases (26) :OMIM:604116 OMIM:617023 OMIM:209900 OMIM:613756 OMIM:613767 OMIM:120970 OMIM:250410 ORPHA:98977 ORPHA:79244 OMIM:601777 ORPHA:217093 ORPHA:217085 OMIM:266920 ORPHA:364055 OMIM:613810 ORPHA:1435 OMIM:612095 ORPHA:52427 OMIM:226960 OMIM:618697 OMIM:268315 OMIM:619259 OMIM:610283 ORPHA:99949 OMIM:145350 OMIM:613617

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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