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
..Altitudinal visual field defect (HP:0030531)

Term ID:

30531

Name:

Altitudinal visual field defect

Synonym:

Definition:

Comments:

Reference:

HP:0030531

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal visual field test (HP:0030588)

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)

Progressive visual field defects (HP:0007987)

Scotoma (HP:0000575)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030531	HP:0030531	Altitudinal visual field defect	0	CL E G H

Genes (0) :

Diseases (0) :

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