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:
obsolete Abnormal globe morphology (HP:0012374)

Parent Node:
Abnormal posterior eye segment morphology (HP:0004329)

..Starting node
..Abnormal posterior segment imaging (HP:0030601)

Term ID:

30601

Name:

Abnormal posterior segment imaging

Synonym:

Definition:

Comments:

Reference:

HP:0030601

Genes and Diseases:

Child Nodes:

........

Abnormal fundus autofluorescence imaging (HP:0030602)

................... HP:0025158 Hyperautofluorescent retinal lesion
................... HP:0025159 Hypoautofluorescent retinal lesion
................... HP:0030629 Perifoveal ring of hyperautofluorescence
................... HP:0030630 Irregular central macular autofluorescence

........

Abnormal optical coherence tomography (HP:0030603)

................... HP:0030612 Abnormal retinal morphology on macular OCT

........

Abnormal fundus fluorescein angiography (HP:0030604)

................... HP:0025320 Leakage of dye on fundus fluorescein angiography

........

Abnormal indocyanine green angiography (HP:0030605)

Sister Nodes:

Abnormal fundus morphology (HP:0001098)

Abnormal vitreous humor morphology (HP:0004327)

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:0030601	HP:0030601	Abnormal posterior segment imaging	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy		24
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy		124
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy		4
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71		48
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2		110
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy		159
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy		47
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6		12
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy		95
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0030601	HP:0030601	Abnormal posterior segment imaging	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0030601	HP:0030605	Abnormal indocyanine green angiography	1	CL E G H
HP:0030601	HP:0030604	Abnormal fundus fluorescein angiography	1	CL E G H
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy		24
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy		24
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy		124
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy		124
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy		4
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71		48
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2		110
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy		159
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy		159
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy		47
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6		12
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy		95
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040282 - Frequent	95
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0030601	HP:0030603	Abnormal optical coherence tomography	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0030601	HP:0030602	Abnormal fundus autofluorescence imaging	1	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0030601	HP:0025320	Leakage of dye on fundus fluorescein angiography	2	CL E G H
HP:0030601	HP:0030630	Irregular central macular autofluorescence	2	CL E G H
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0030601	HP:0025159	Hypoautofluorescent retinal lesion	2	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	86
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	57
HP:0030601	HP:0025159	Hypoautofluorescent retinal lesion	2	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0030601	HP:0025159	Hypoautofluorescent retinal lesion	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0030601	HP:0025159	Hypoautofluorescent retinal lesion	2	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	54
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy		24
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy		24
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	24
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy		124
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy		124
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	124
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy		4
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71		48
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.	110
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040283 - Occasional	159
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy		159
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy		159
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy		47
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0030601	HP:0025159	Hypoautofluorescent retinal lesion	2	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0030601	HP:0025159	Hypoautofluorescent retinal lesion	2	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6		12
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy		95
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0030601	HP:0025158	Hyperautofluorescent retinal lesion	2	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0030601	HP:0025159	Hypoautofluorescent retinal lesion	2	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0030601	HP:0030612	Abnormal retinal morphology on macular OCT	2	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0030601	HP:0030629	Perifoveal ring of hyperautofluorescence	2	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0030601	HP:0030606	Abnormal OCT-measured macular thickness	3	CL E G H
HP:0030601	HP:0030611	Retinal pigment epithelial loss on macular OCT	3	CL E G H
HP:0030601	HP:0030634	Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence	3	CL E G H
HP:0030601	HP:0030610	Photoreceptor outer segment loss on macular OCT	3	CL E G H
HP:0030601	HP:0030633	Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence	3	CL E G H
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0030601	HP:0030620	Inner retinal layer loss on macular OCT	3	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	10
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	86
HP:0030601	HP:0030632	Hypoautofluorescent macular lesion	3	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	86
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	57
HP:0030601	HP:0030632	Hypoautofluorescent macular lesion	3	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	57
HP:0030601	HP:0030609	Photoreceptor layer loss on macular OCT	3	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0030601	HP:0030613	Abnormal foveal morphology on macular OCT	3	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0030601	HP:0030620	Inner retinal layer loss on macular OCT	3	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	82
HP:0030601	HP:0030620	Inner retinal layer loss on macular OCT	3	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	194
HP:0030601	HP:0030632	Hypoautofluorescent macular lesion	3	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	54
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040282 - Frequent	54
HP:0030601	HP:0030620	Inner retinal layer loss on macular OCT	3	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	19
HP:0030601	HP:0030613	Abnormal foveal morphology on macular OCT	3	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy		24
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040281 - Very frequent	24
HP:0030601	HP:0030613	Abnormal foveal morphology on macular OCT	3	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy		124
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040281 - Very frequent	124
HP:0030601	HP:0030609	Photoreceptor layer loss on macular OCT	3	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent	4
HP:0030601	HP:0030620	Inner retinal layer loss on macular OCT	3	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	80
HP:0030601	HP:0030620	Inner retinal layer loss on macular OCT	3	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	14
HP:0030601	HP:0030609	Photoreceptor layer loss on macular OCT	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040281 - Very frequent	159
HP:0030601	HP:0030613	Abnormal foveal morphology on macular OCT	3	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy		159
HP:0030601	HP:0030613	Abnormal foveal morphology on macular OCT	3	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy		47
HP:0030601	HP:0030620	Inner retinal layer loss on macular OCT	3	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent	200
HP:0030601	HP:0030632	Hypoautofluorescent macular lesion	3	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1		200
HP:0030601	HP:0034272	Perifoveal hypoautofluorescence	3	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0030601	HP:0030625	Hyporeflective spaces on macular OCT	3	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0030601	HP:0030613	Abnormal foveal morphology on macular OCT	3	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6	HP:0040281 - Very frequent	12
HP:0030601	HP:0030609	Photoreceptor layer loss on macular OCT	3	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0030601	HP:0030625	Hyporeflective spaces on macular OCT	3	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040282 - Frequent	95
HP:0030601	HP:0030631	Hyperautofluorescent macular lesion	3	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0030601	HP:0030609	Photoreceptor layer loss on macular OCT	3	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis		28
HP:0030601	HP:0030621	Foveal inner retinal layer loss on macular OCT	4	CL E G H
HP:0030601	HP:0030616	Foveal retinal pigment epithelial loss on macular OCT	4	CL E G H
HP:0030601	HP:0030627	Foveal hyporeflective spaces on macular OCT	4	CL E G H
HP:0030601	HP:0030614	Foveal photoreceptor layer loss on macular OCT	4	CL E G H
HP:0030601	HP:0030624	Subretinal hyporeflective spaces on macular OCT	4	CL E G H
HP:0030601	HP:0030623	Intraretinal hyporeflective spaces on macular OCT	4	CL E G H
HP:0030601	HP:0030608	Increased OCT-measured macular thickness	4	CL E G H
HP:0030601	HP:0030622	Abnormal foveal pit on macular OCT	4	CL E G H
HP:0030601	HP:0030607	Reduced OCT-measured macular thickness	4	CL E G H
HP:0030601	HP:0030617	Abnormal OCT-measured foveal thickness	4	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0030601	HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	4	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	24
HP:0030601	HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	4	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	124
HP:0030601	HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	4	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	159
HP:0030601	HP:0030617	Abnormal OCT-measured foveal thickness	4	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy		47
HP:0030601	HP:0030628	Foveal subretinal hyporeflective spaces on macular OCT	5	CL E G H
HP:0030601	HP:0030626	Foveal intraretinal hyporeflective spaces on macular OCT	5	CL E G H
HP:0030601	HP:0030619	Reduced OCT-measured foveal thickness	5	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0030601	HP:0030618	Increased OCT-measured foveal thickness	5	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent	47

Genes (41) :AIRE ARL6 ARSG ATF6 BBS1 CCDC28B CFAP418 CFH CFI CLCC1 CLEC3B CNGA3 CNGB3 CWC27 EFEMP1 GNAT2 GUCA1A GUCY2D HLA-A IDH3A IFT172 KIAA1549 KIF3B PDE6C PDE6H PMM2 POMGNT1 PROM1 PRPF31 PRPF8 PRPH2 RAX2 RLBP1 RPGR SELENOI SLC24A5 SLC6A6 TIMP3 TLCD3B TRNT1 TTLL5

Diseases (31) :OMIM:240300 OMIM:209900 OMIM:618144 ORPHA:49382 OMIM:617406 ORPHA:75376 OMIM:609913 OMIM:619977 OMIM:250410 ORPHA:75377 ORPHA:179 OMIM:619007 OMIM:616394 OMIM:618613 OMIM:618955 ORPHA:79318 OMIM:617123 OMIM:608051 OMIM:600138 OMIM:600059 OMIM:620102 ORPHA:85128 OMIM:304020 OMIM:300029 ORPHA:506353 ORPHA:370097 OMIM:145350 ORPHA:59181 OMIM:619531 OMIM:616959 OMIM:615860

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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