Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Centrocecal scotoma (HP:0000576)

Term ID:

576

Name:

Centrocecal scotoma

Synonym:

Definition:

A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.

Comments:

Reference:

HP:0000576

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arcuate scotoma (HP:0030530)

Central scotoma (HP:0000603)

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:0000576	HP:0000576	Centrocecal scotoma	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000576	HP:0000576	Centrocecal scotoma	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0000576	HP:0000576	Centrocecal scotoma	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000576	HP:0000576	Centrocecal scotoma	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000576	HP:0000576	Centrocecal scotoma	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0000576	HP:0000576	Centrocecal scotoma	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000576	HP:0000576	Centrocecal scotoma	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0000576	HP:0000576	Centrocecal scotoma	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000576	HP:0000576	Centrocecal scotoma	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000576	HP:0000576	Centrocecal scotoma	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0000576	HP:0000576	Centrocecal scotoma	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000576	HP:0000576	Centrocecal scotoma	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0000576	HP:0000576	Centrocecal scotoma	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000576	HP:0000576	Centrocecal scotoma	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0000576	HP:0000576	Centrocecal scotoma	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000576	HP:0000576	Centrocecal scotoma	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0000576	HP:0000576	Centrocecal scotoma	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000576	HP:0000576	Centrocecal scotoma	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0000576	HP:0000576	Centrocecal scotoma	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000576	HP:0000576	Centrocecal scotoma	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0000576	HP:0000576	Centrocecal scotoma	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent	65
HP:0000576	HP:0000576	Centrocecal scotoma	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0000576	HP:0000576	Centrocecal scotoma	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214

Genes (13) :ATP6 COX1 COX3 CYTB DNAJC30 ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 OPA1

Diseases (4) :ORPHA:104 OMIM:535000 OMIM:165500 OMIM:125250

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

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