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
..Paracentral scotoma (HP:0030528)

Term ID:

30528

Name:

Paracentral scotoma

Synonym:

Definition:

Comments:

Reference:

HP:0030528

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arcuate scotoma (HP:0030530)

Central scotoma (HP:0000603)

Centrocecal scotoma (HP:0000576)

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:0030528	HP:0030528	Paracentral scotoma	0	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.	60
HP:0030528	HP:0030528	Paracentral scotoma	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	86
HP:0030528	HP:0030528	Paracentral scotoma	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	57
HP:0030528	HP:0030528	Paracentral scotoma	0	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.	126
HP:0030528	HP:0030528	Paracentral scotoma	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional	126
HP:0030528	HP:0030528	Paracentral scotoma	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	54
HP:0030528	HP:0030528	Paracentral scotoma	0	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92		2
HP:0030528	HP:0030528	Paracentral scotoma	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional	47

Genes (7) :ACO2 CFH CFI CYP4V2 EFEMP1 HKDC1 RLBP1

Diseases (6) :OMIM:616289 ORPHA:75376 OMIM:210370 ORPHA:41751 OMIM:619614 ORPHA:85128

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