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:
Abnormal macular morphology (HP:0001103)

Parent Node:
Edema (HP:0000969)

Parent Node:
Macular thickening (HP:0030498)

..Starting node
..Macular edema (HP:0040049)

Term ID:

40049

Name:

Macular edema

Synonym:

Macular oedema

Definition:

Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.

Comments:

Reference:

HP:0040049

Genes and Diseases:

Child Nodes:

........

Cystoid macular edema (HP:0011505)

Sister Nodes:

Epiretinal membrane (HP:0100014)

Macular schisis (HP:0011511)

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:0040049	HP:0040049	Macular edema	0	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78		6
HP:0040049	HP:0040049	Macular edema	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0040049	HP:0040049	Macular edema	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0040049	HP:0040049	Macular edema	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0040049	HP:0040049	Macular edema	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy		126
HP:0040049	HP:0040049	Macular edema	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0040049	HP:0040049	Macular edema	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0040049	HP:0040049	Macular edema	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy		4
HP:0040049	HP:0040049	Macular edema	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0040049	HP:0040049	Macular edema	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0040049	HP:0040049	Macular edema	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0040049	HP:0040049	Macular edema	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5		26
HP:0040049	HP:0040049	Macular edema	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0040049	HP:0040049	Macular edema	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome		187
HP:0040049	HP:0040049	Macular edema	0	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome	.	58
HP:0040049	HP:0040049	Macular edema	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	HP:0040283 - Occasional	30
HP:0040049	HP:0040049	Macular edema	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57		18
HP:0040049	HP:0040049	Macular edema	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0040049	HP:0040049	Macular edema	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0040049	HP:0040049	Macular edema	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0040049	HP:0040049	Macular edema	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens		159
HP:0040049	HP:0040049	Macular edema	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens		32
HP:0040049	HP:0040049	Macular edema	0	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77		5
HP:0040049	HP:0040049	Macular edema	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens		107
HP:0040049	HP:0040049	Macular edema	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens		47
HP:0040049	HP:0040049	Macular edema	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88		284
HP:0040049	HP:0040049	Macular edema	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	HP:0040283 - Occasional	14
HP:0040049	HP:0040049	Macular edema	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0040049	HP:0040049	Macular edema	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0040049	HP:0040049	Macular edema	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0040049	HP:0040049	Macular edema	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0040049	HP:0040049	Macular edema	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14
HP:0040049	HP:0011505	Cystoid macular edema	1	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.	6
HP:0040049	HP:0011505	Cystoid macular edema	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0040049	HP:0011505	Cystoid macular edema	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional	126
HP:0040049	HP:0011505	Cystoid macular edema	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	HP:0040283 - Occasional	47
HP:0040049	HP:0011505	Cystoid macular edema	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent	4
HP:0040049	HP:0011505	Cystoid macular edema	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0040049	HP:0011505	Cystoid macular edema	1	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0040049	HP:0011505	Cystoid macular edema	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	HP:0040283 - Occasional	26
HP:0040049	HP:0011505	Cystoid macular edema	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome	.	187
HP:0040049	HP:0011505	Cystoid macular edema	1	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57	.	18
HP:0040049	HP:0011505	Cystoid macular edema	1	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0040049	HP:0011505	Cystoid macular edema	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13	HP:0040283 - Occasional	94
HP:0040049	HP:0011505	Cystoid macular edema	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	159
HP:0040049	HP:0011505	Cystoid macular edema	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	32
HP:0040049	HP:0011505	Cystoid macular edema	1	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77	HP:0040283 - Occasional	5
HP:0040049	HP:0011505	Cystoid macular edema	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	107
HP:0040049	HP:0011505	Cystoid macular edema	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	47
HP:0040049	HP:0011505	Cystoid macular edema	1	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88		284

Genes (31) :ARHGEF18 ARL3 CCND1 CTNNB1 CYP4V2 DHDDS FZD4 HLA-A IDH3A KIAA1549 LRP5 MFRP NDP NOD2 NR2E3 NRL PDE6G POMGNT1 PRPF31 PRPF8 PRPH2 RDH5 REEP6 RHO RLBP1 RP1L1 RP9 TREX1 TSPAN12 VHL ZNF408

Diseases (23) :OMIM:617433 OMIM:618173 ORPHA:892 ORPHA:891 ORPHA:41751 OMIM:613861 ORPHA:179 OMIM:619007 OMIM:618613 OMIM:611040 OMIM:186580 OMIM:268100 OMIM:613750 OMIM:613582 OMIM:617123 OMIM:600138 OMIM:600059 ORPHA:52427 OMIM:617304 OMIM:618826 OMIM:180104 ORPHA:247691 OMIM:192315

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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