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:
Abnormal retinal morphology (HP:0000479)

Parent Node:
Retinal detachment (HP:0000541)

..Starting node
..Rhegmatogenous retinal detachment (HP:0012230)

Term ID:

12230

Name:

Rhegmatogenous retinal detachment

Synonym:

Definition:

A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.

Comments:

Reference:

HP:0012230

Genes and Diseases:

Child Nodes:

Sister Nodes:

Exudative retinal detachment (HP:0012231)

Peripheral retinal detachment (HP:0007929)

Retinal nonattachment (HP:0007899)

Tractional retinal detachment (HP:0007917)

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:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040282 - Frequent	284
HP:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	COL2A1 CL E G H	1280	2200	OMIM:609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR		284
HP:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	COL2A1 CL E G H	1280	2200	OMIM:619248	VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED		284
HP:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040284 - Very rare	70
HP:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040284 - Very rare	62
HP:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040284 - Very rare	129
HP:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040284 - Very rare	48
HP:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0012230	HP:0012230	Rhegmatogenous retinal detachment	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14

Genes (11) :COL2A1 CTNNB1 FZD4 LCA5 LRAT LRP5 NDP RPE65 SPATA7 TSPAN12 ZNF408

Diseases (5) :ORPHA:485 OMIM:609508 OMIM:619248 ORPHA:891 ORPHA:364055

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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