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 chorioretinal morphology (HP:0000532)

Parent Node:
Chorioretinal degeneration (HP:0200065)

..Starting node
..Chorioretinal atrophy (HP:0000533)

Term ID:

533

Name:

Chorioretinal atrophy

Synonym:

Chorioretinal thinning

Definition:

Atrophy of the choroid and retinal layers of the fundus.

Comments:

Reference:

HP:0000533

Genes and Diseases:

Child Nodes:

........

Paravenous chorioretinal atrophy (HP:0007903)

........

Peripapillary chorioretinal atrophy (HP:0007950)

........

Choriocapillaris atrophy (HP:0030491)

Sister Nodes:

Chorioretinal scar (HP:0007777)

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:0000533	HP:0000533	Chorioretinal atrophy	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0000533	HP:0000533	Chorioretinal atrophy	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent	20
HP:0000533	HP:0000533	Chorioretinal atrophy	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0000533	HP:0000533	Chorioretinal atrophy	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0000533	HP:0000533	Chorioretinal atrophy	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA	.	47
HP:0000533	HP:0000533	Chorioretinal atrophy	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0000533	HP:0000533	Chorioretinal atrophy	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0000533	HP:0000533	Chorioretinal atrophy	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0000533	HP:0000533	Chorioretinal atrophy	0	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy		156
HP:0000533	HP:0000533	Chorioretinal atrophy	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2	.	158
HP:0000533	HP:0000533	Chorioretinal atrophy	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0000533	HP:0000533	Chorioretinal atrophy	0	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.	126
HP:0000533	HP:0000533	Chorioretinal atrophy	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy		126
HP:0000533	HP:0000533	Chorioretinal atrophy	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0000533	HP:0000533	Chorioretinal atrophy	0	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25	HP:0040284 - Very rare	209
HP:0000533	HP:0000533	Chorioretinal atrophy	0	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30		26
HP:0000533	HP:0000533	Chorioretinal atrophy	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0000533	HP:0000533	Chorioretinal atrophy	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	24
HP:0000533	HP:0000533	Chorioretinal atrophy	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	124
HP:0000533	HP:0000533	Chorioretinal atrophy	0	GUCY2D CL E G H	3000	4689	OMIM:215500	Choroidal dystrophy, central areolar 1	.	124
HP:0000533	HP:0000533	Chorioretinal atrophy	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6		124
HP:0000533	HP:0000533	Chorioretinal atrophy	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	99
HP:0000533	HP:0000533	Chorioretinal atrophy	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000533	HP:0000533	Chorioretinal atrophy	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0000533	HP:0000533	Chorioretinal atrophy	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	70
HP:0000533	HP:0000533	Chorioretinal atrophy	0	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal	.
HP:0000533	HP:0000533	Chorioretinal atrophy	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	62
HP:0000533	HP:0000533	Chorioretinal atrophy	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0000533	HP:0000533	Chorioretinal atrophy	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040283 - Occasional	96
HP:0000533	HP:0000533	Chorioretinal atrophy	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0000533	HP:0000533	Chorioretinal atrophy	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.	30
HP:0000533	HP:0000533	Chorioretinal atrophy	0	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040281 - Very frequent	94
HP:0000533	HP:0000533	Chorioretinal atrophy	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency	.	94
HP:0000533	HP:0000533	Chorioretinal atrophy	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0000533	HP:0000533	Chorioretinal atrophy	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	159
HP:0000533	HP:0000533	Chorioretinal atrophy	0	PRPH2 CL E G H	5961	9942	OMIM:613105	Choroidal dystrophy, central areolar 2		159
HP:0000533	HP:0000533	Chorioretinal atrophy	0	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7	HP:0040283 - Occasional	159
HP:0000533	HP:0000533	Chorioretinal atrophy	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000533	HP:0000533	Chorioretinal atrophy	0	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7	HP:0040283 - Occasional	38
HP:0000533	HP:0000533	Chorioretinal atrophy	0	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87		129
HP:0000533	HP:0000533	Chorioretinal atrophy	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	129
HP:0000533	HP:0000533	Chorioretinal atrophy	0	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47		32
HP:0000533	HP:0000533	Chorioretinal atrophy	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	HP:0040284 - Very rare	88
HP:0000533	HP:0000533	Chorioretinal atrophy	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040284 - Very rare	88
HP:0000533	HP:0000533	Chorioretinal atrophy	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	48
HP:0000533	HP:0000533	Chorioretinal atrophy	0	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy		1
HP:0000533	HP:0000533	Chorioretinal atrophy	0	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy		95
HP:0000533	HP:0000533	Chorioretinal atrophy	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040283 - Occasional	95
HP:0000533	HP:0000533	Chorioretinal atrophy	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0000533	HP:0000533	Chorioretinal atrophy	0	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.	180
HP:0000533	HP:0000533	Chorioretinal atrophy	0	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6	HP:0040283 - Occasional	14
HP:0000533	HP:0000533	Chorioretinal atrophy	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14
HP:0000533	HP:0030491	Choriocapillaris atrophy	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0000533	HP:0007950	Peripapillary chorioretinal atrophy	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	86
HP:0000533	HP:0007950	Peripapillary chorioretinal atrophy	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	57
HP:0000533	HP:0030491	Choriocapillaris atrophy	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.	156
HP:0000533	HP:0007903	Paravenous chorioretinal atrophy	1	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy	.	156
HP:0000533	HP:0030491	Choriocapillaris atrophy	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent	126
HP:0000533	HP:0007950	Peripapillary chorioretinal atrophy	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	54
HP:0000533	HP:0030491	Choriocapillaris atrophy	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	24
HP:0000533	HP:0030491	Choriocapillaris atrophy	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	124
HP:0000533	HP:0030491	Choriocapillaris atrophy	1	GUCY2D CL E G H	3000	4689	OMIM:215500	Choroidal dystrophy, central areolar 1	.	124
HP:0000533	HP:0007950	Peripapillary chorioretinal atrophy	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.	30
HP:0000533	HP:0030491	Choriocapillaris atrophy	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	159
HP:0000533	HP:0007950	Peripapillary chorioretinal atrophy	1	TEAD1 CL E G H	7003	11714	OMIM:108985	Sveinsson chorioretinal atrophy	.	1
HP:0000533	HP:0030491	Choriocapillaris atrophy	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040282 - Frequent	95

Genes (41) :ACVRL1 C1QTNF5 CFH CFI CHM CLCN2 COL18A1 CRB1 CRX CTNNB1 CYP4V2 EFEMP1 EYS FSCN2 FZD4 GUCA1A GUCY2D HADHA HMX1 JAG1 LCA5 LOC111365204 LRAT LRP5 NDE1 NDP NRL OAT PAX2 PRPH2 RNU7-1 ROM1 RPE65 SAG SLC25A15 SPATA7 TEAD1 TIMP3 TSPAN12 VCAN ZNF408

Diseases (39) :OMIM:600376 ORPHA:67042 ORPHA:75376 OMIM:303100 OMIM:615651 OMIM:267750 OMIM:613835 OMIM:172870 OMIM:120970 ORPHA:891 OMIM:210370 ORPHA:41751 OMIM:602772 OMIM:607921 ORPHA:75377 OMIM:215500 OMIM:601777 ORPHA:5 OMIM:612109 OMIM:118450 ORPHA:364055 OMIM:600790 ORPHA:2177 OMIM:613750 ORPHA:414 OMIM:258870 OMIM:120330 OMIM:613105 OMIM:608133 OMIM:619487 OMIM:618697 OMIM:613758 OMIM:238970 ORPHA:415 OMIM:108985 OMIM:136900 ORPHA:59181 OMIM:143200 OMIM:616468

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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