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:
Visual field defect (HP:0001123)

Parent Node:
Scotoma (HP:0000575)

..Starting node
..Pericentral scotoma (HP:0007761)

Term ID:

7761

Name:

Pericentral scotoma

Synonym:

Definition:

A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.

Comments:

Reference:

HP:0007761

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arcuate scotoma (HP:0030530)

Central scotoma (HP:0000603)

Centrocecal scotoma (HP:0000576)

Paracentral scotoma (HP:0030528)

Ring scotoma (HP:0030529)

Scintillating scotoma (HP:0010822)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007761	HP:0007761	Pericentral scotoma	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked	45

Genes (1) :RP2

Diseases (1) :OMIM:312600

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