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
..Ring scotoma (HP:0030529)

Term ID:

30529

Name:

Ring scotoma

Synonym:

Definition:

Comments:

Reference:

HP:0030529

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arcuate scotoma (HP:0030530)

Central scotoma (HP:0000603)

Centrocecal scotoma (HP:0000576)

Paracentral scotoma (HP:0030528)

Pericentral scotoma (HP:0007761)

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:0030529	HP:0030529	Ring scotoma	0	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0030529	HP:0030529	Ring scotoma	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0030529	HP:0030529	Ring scotoma	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional	47
HP:0030529	HP:0030529	Ring scotoma	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0030529	HP:0030529	Ring scotoma	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0030529	HP:0030529	Ring scotoma	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28

Genes (6) :ARSG FLVCR1 RLBP1 RP2 RPGR TRNT1

Diseases (6) :OMIM:618144 OMIM:609033 ORPHA:85128 OMIM:312600 OMIM:300029 OMIM:616959

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