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:
Abnormal eye physiology (HP:0012373)

Parent Node:
Abnormality of vision (HP:0000504)

..Starting node
..Difficulty adjusting to changes in luminance (HP:0030512)

Term ID:

30512

Name:

Difficulty adjusting to changes in luminance

Synonym:

Definition:

Comments:

Reference:

HP:0030512

Genes and Diseases:

Child Nodes:

........

Difficulty adjusting from light to dark (HP:0030513)

........

Difficulty adjusting from dark to light (HP:0030514)

Sister Nodes:

Abnormality of binocular vision (HP:0011514)

Amaurosis fugax (HP:0100576)

Blurred vision (HP:0000622)

Bradyopsia (HP:0030511)

Color vision defect (HP:0000551)

Hemeralopia (HP:0012047)

Metamorphopsia (HP:0012508)

Nyctalopia (HP:0000662)

Photophobia (HP:0000613)

Photopsia (HP:0030786)

Poor visual behavior for age (HP:0025152)

Reduced visual acuity (HP:0007663)

Visual field defect (HP:0001123)

Visual impairment (HP:0000505)

Visual loss (HP:0000572)

Vitreous floaters (HP:0100832)

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:0030512	HP:0030512	Difficulty adjusting to changes in luminance	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease		58
HP:0030512	HP:0030514	Difficulty adjusting from dark to light	1	CL E G H
HP:0030512	HP:0030513	Difficulty adjusting from light to dark	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent	58

Genes (1) :CACNA1F

Diseases (1) :ORPHA:178333

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