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:
Edema (HP:0000969)

Grandparent Node:
Macular thickening (HP:0030498)

Parent Node:
Macular edema (HP:0040049)

..Starting node
..Cystoid macular edema (HP:0011505)

Term ID:

11505

Name:

Cystoid macular edema

Synonym:

Cystoid macular oedema

Definition:

Cystoid macular edema (CME) is any type of macular edema that involves cyst formation.

Comments:

Reference:

HP:0011505

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0011505	HP:0011505	Cystoid macular edema	0	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.	6
HP:0011505	HP:0011505	Cystoid macular edema	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0011505	HP:0011505	Cystoid macular edema	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional	126
HP:0011505	HP:0011505	Cystoid macular edema	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	HP:0040283 - Occasional	47
HP:0011505	HP:0011505	Cystoid macular edema	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent	4
HP:0011505	HP:0011505	Cystoid macular edema	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0011505	HP:0011505	Cystoid macular edema	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0011505	HP:0011505	Cystoid macular edema	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	HP:0040283 - Occasional	26
HP:0011505	HP:0011505	Cystoid macular edema	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome	.	187
HP:0011505	HP:0011505	Cystoid macular edema	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57	.	18
HP:0011505	HP:0011505	Cystoid macular edema	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0011505	HP:0011505	Cystoid macular edema	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13	HP:0040283 - Occasional	94
HP:0011505	HP:0011505	Cystoid macular edema	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	159
HP:0011505	HP:0011505	Cystoid macular edema	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	32
HP:0011505	HP:0011505	Cystoid macular edema	0	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77	HP:0040283 - Occasional	5
HP:0011505	HP:0011505	Cystoid macular edema	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	107
HP:0011505	HP:0011505	Cystoid macular edema	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	47
HP:0011505	HP:0011505	Cystoid macular edema	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88		284

Genes (18) :ARHGEF18 ARL3 CYP4V2 DHDDS HLA-A IDH3A KIAA1549 MFRP NOD2 PDE6G POMGNT1 PRPF8 PRPH2 RDH5 REEP6 RHO RLBP1 RP1L1

Diseases (15) :OMIM:617433 OMIM:618173 ORPHA:41751 OMIM:613861 ORPHA:179 OMIM:619007 OMIM:618613 OMIM:611040 OMIM:186580 OMIM:613582 OMIM:617123 OMIM:600059 ORPHA:52427 OMIM:617304 OMIM:618826

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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