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
..Central scotoma (HP:0000603)

Term ID:

603

Name:

Central scotoma

Synonym:

Blind spot located at fixation point; Central blind spot; Central scotomata

Definition:

An area of depressed vision located at the point of fixation and that interferes with central vision.

Comments:

Reference:

HP:0000603

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arcuate scotoma (HP:0030530)

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:0000603	HP:0000603	Central scotoma	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0000603	HP:0000603	Central scotoma	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	826
HP:0000603	HP:0000603	Central scotoma	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	10
HP:0000603	HP:0000603	Central scotoma	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7		10
HP:0000603	HP:0000603	Central scotoma	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000603	HP:0000603	Central scotoma	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3		58
HP:0000603	HP:0000603	Central scotoma	0	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma	.
HP:0000603	HP:0000603	Central scotoma	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	82
HP:0000603	HP:0000603	Central scotoma	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	194
HP:0000603	HP:0000603	Central scotoma	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	194
HP:0000603	HP:0000603	Central scotoma	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000603	HP:0000603	Central scotoma	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000603	HP:0000603	Central scotoma	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2		158
HP:0000603	HP:0000603	Central scotoma	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare	101
HP:0000603	HP:0000603	Central scotoma	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional	126
HP:0000603	HP:0000603	Central scotoma	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000603	HP:0000603	Central scotoma	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000603	HP:0000603	Central scotoma	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000603	HP:0000603	Central scotoma	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040283 - Occasional	94
HP:0000603	HP:0000603	Central scotoma	0	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.	94
HP:0000603	HP:0000603	Central scotoma	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare	54
HP:0000603	HP:0000603	Central scotoma	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	62
HP:0000603	HP:0000603	Central scotoma	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0000603	HP:0000603	Central scotoma	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	19
HP:0000603	HP:0000603	Central scotoma	0	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.	120
HP:0000603	HP:0000603	Central scotoma	0	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	.	3
HP:0000603	HP:0000603	Central scotoma	0	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type	.
HP:0000603	HP:0000603	Central scotoma	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0000603	HP:0000603	Central scotoma	0	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement	.	120
HP:0000603	HP:0000603	Central scotoma	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0000603	HP:0000603	Central scotoma	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare	47
HP:0000603	HP:0000603	Central scotoma	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000603	HP:0000603	Central scotoma	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000603	HP:0000603	Central scotoma	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000603	HP:0000603	Central scotoma	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000603	HP:0000603	Central scotoma	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000603	HP:0000603	Central scotoma	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000603	HP:0000603	Central scotoma	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent	65
HP:0000603	HP:0000603	Central scotoma	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040283 - Occasional	214
HP:0000603	HP:0000603	Central scotoma	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0000603	HP:0000603	Central scotoma	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0000603	HP:0000603	Central scotoma	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent	163
HP:0000603	HP:0000603	Central scotoma	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	80
HP:0000603	HP:0000603	Central scotoma	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	14
HP:0000603	HP:0000603	Central scotoma	0	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5		135
HP:0000603	HP:0000603	Central scotoma	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.	3
HP:0000603	HP:0000603	Central scotoma	0	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12		110
HP:0000603	HP:0000603	Central scotoma	0	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.	110
HP:0000603	HP:0000603	Central scotoma	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	110
HP:0000603	HP:0000603	Central scotoma	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	159
HP:0000603	HP:0000603	Central scotoma	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent	159
HP:0000603	HP:0000603	Central scotoma	0	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18	.	6
HP:0000603	HP:0000603	Central scotoma	0	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.	108
HP:0000603	HP:0000603	Central scotoma	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	32
HP:0000603	HP:0000603	Central scotoma	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	107
HP:0000603	HP:0000603	Central scotoma	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional	47
HP:0000603	HP:0000603	Central scotoma	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	47
HP:0000603	HP:0000603	Central scotoma	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0000603	HP:0000603	Central scotoma	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent	200
HP:0000603	HP:0000603	Central scotoma	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10		2
HP:0000603	HP:0000603	Central scotoma	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional	15
HP:0000603	HP:0000603	Central scotoma	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy		23

Genes (51) :ABCA4 ATF6 ATP6 CACNA1F CFAP410 CNGA3 CNGB3 COX1 COX3 CRX CYP1B1 CYP4V2 CYTB DNAJC30 DNM1L EFEMP1 ELOVL4 FDXR GNAT2 IMPG2 ITM2B LOC111365204 MFN2 MFSD8 MTRFR MYOC ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 OPA1 OPA3 PDE6C PDE6H PITPNM3 POC1B PROM1 PRPH2 RAB28 RBP3 RDH5 RHO RLBP1 RP2 RPGR RTN4IP1 TIMM8A TMEM126A

Diseases (35) :OMIM:604116 ORPHA:827 ORPHA:49382 OMIM:616517 ORPHA:104 OMIM:300476 OMIM:617547 OMIM:120970 ORPHA:98977 ORPHA:41751 OMIM:619382 ORPHA:98673 OMIM:610708 ORPHA:543470 OMIM:616152 OMIM:616079 OMIM:136550 OMIM:601152 OMIM:616170 OMIM:615035 OMIM:165500 OMIM:125250 ORPHA:67036 OMIM:600977 OMIM:615973 OMIM:612657 OMIM:608051 ORPHA:52427 OMIM:615374 OMIM:615233 ORPHA:85128 OMIM:312600 OMIM:616732 ORPHA:52368 OMIM:612989

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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