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:
Macular thickening (HP:0030498)

..Starting node
..Epiretinal membrane (HP:0100014)

Term ID:

100014

Name:

Epiretinal membrane

Synonym:

Epiretinal membranes; Macular pucker; Premacular fibrosis

Definition:

An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.

Comments:

Reference:

HP:0100014

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macular edema (HP:0040049)

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:0100014	HP:0100014	Epiretinal membrane	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0100014	HP:0100014	Epiretinal membrane	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040284 - Very rare	20
HP:0100014	HP:0100014	Epiretinal membrane	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0100014	HP:0100014	Epiretinal membrane	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0100014	HP:0100014	Epiretinal membrane	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent	4
HP:0100014	HP:0100014	Epiretinal membrane	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0100014	HP:0100014	Epiretinal membrane	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0100014	HP:0100014	Epiretinal membrane	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional	220
HP:0100014	HP:0100014	Epiretinal membrane	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II	.	220
HP:0100014	HP:0100014	Epiretinal membrane	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria		217
HP:0100014	HP:0100014	Epiretinal membrane	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0100014	HP:0100014	Epiretinal membrane	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0100014	HP:0100014	Epiretinal membrane	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14

Genes (12) :APC C1QTNF5 CTNNB1 FZD4 HLA-A LRP5 NDP NF2 NLRP3 TRNT1 TSPAN12 ZNF408

Diseases (8) :ORPHA:99818 ORPHA:67042 ORPHA:891 ORPHA:179 ORPHA:637 OMIM:101000 OMIM:148200 OMIM:616959

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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