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
..Arcuate scotoma (HP:0030530)

Term ID:

30530

Name:

Arcuate scotoma

Synonym:

Arc-shaped blind spot

Definition:

Comments:

Reference:

HP:0030530

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central scotoma (HP:0000603)

Centrocecal scotoma (HP:0000576)

Paracentral scotoma (HP:0030528)

Pericentral scotoma (HP:0007761)

Ring scotoma (HP:0030529)

Scintillating scotoma (HP:0010822)

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:0030530	HP:0030530	Arcuate scotoma	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040283 - Occasional	4

Genes (1) :HLA-A

Diseases (1) :ORPHA:179

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