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:
Reduced visual acuity (HP:0007663)

Parent Node:
Visual acuity test abnormality (HP:0030532)

..Starting node
..Visual acuity no light perception (HP:0030553)

Term ID:

30553

Name:

Visual acuity no light perception

Synonym:

Definition:

Comments:

Reference:

HP:0030553

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal best corrected visual acuity test (HP:0030534)

Abnormal pinhole visual acuity test (HP:0030535)

Abnormal unaided visual acuity test (HP:0030533)

Visual acuity light perception with projection (HP:0030551)

Visual acuity light perception without projection (HP:0030552)

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:0030553	HP:0030553	Visual acuity no light perception	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179

Genes (1) :APC

Diseases (1) :ORPHA:99818

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