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:
Visual field defect (HP:0001123)

..Starting node
..Progressive visual field defects (HP:0007987)

Term ID:

7987

Name:

Progressive visual field defects

Synonym:

Definition:

Comments:

Reference:

HP:0007987

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal visual field test (HP:0030588)

Altitudinal visual field defect (HP:0030531)

Blind-spot enlargment (HP:0030644)

Constriction of peripheral visual field (HP:0001133)

Glaucomatous visual field defect (HP:0007854)

Hemianopia (HP:0012377)

Large central visual field defect (HP:0001129)

Scotoma (HP:0000575)

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:0007987	HP:0007987	Progressive visual field defects	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	276
HP:0007987	HP:0007987	Progressive visual field defects	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	88
HP:0007987	HP:0007987	Progressive visual field defects	0	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18	.	28
HP:0007987	HP:0007987	Progressive visual field defects	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	159
HP:0007987	HP:0007987	Progressive visual field defects	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	32
HP:0007987	HP:0007987	Progressive visual field defects	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	107
HP:0007987	HP:0007987	Progressive visual field defects	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	47

Genes (7) :BRAF CTNNB1 PRPF3 PRPH2 RDH5 RHO RLBP1

Diseases (3) :ORPHA:54595 OMIM:601414 ORPHA:52427

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