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
..Blind-spot enlargment (HP:0030644)

Term ID:

30644

Name:

Blind-spot enlargment

Synonym:

Blind spot enlargment

Definition:

Comments:

Reference:

HP:0030644

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal visual field test (HP:0030588)

Altitudinal visual field defect (HP:0030531)

Constriction of peripheral visual field (HP:0001133)

Glaucomatous visual field defect (HP:0007854)

Hemianopia (HP:0012377)

Large central visual field defect (HP:0001129)

Progressive visual field defects (HP:0007987)

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:0030644	HP:0030644	Blind-spot enlargment	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent	4
HP:0030644	HP:0030644	Blind-spot enlargment	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10		2
HP:0030644	HP:0030644	Blind-spot enlargment	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant		389

Genes (3) :HLA-A RTN4IP1 WFS1

Diseases (3) :ORPHA:179 OMIM:616732 OMIM:614296

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