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:
Abnormality of the curvature of the cornea (HP:0100691)

Parent Node:
Decreased corneal thickness (HP:0100689)

Parent Node:
Increased corneal curvature (HP:0100692)

..Starting node
..Keratoconus (HP:0000563)

Term ID:

563

Name:

Keratoconus

Synonym:

Bulging cornea; Conical cornea

Definition:

A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.

Comments:

Reference:

HP:0000563

Genes and Diseases:

Child Nodes:

Sister Nodes:

Keratoglobus (HP:0001119)

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:0000563	HP:0000563	Keratoconus	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	826
HP:0000563	HP:0000563	Keratoconus	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	2
HP:0000563	HP:0000563	Keratoconus	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	175
HP:0000563	HP:0000563	Keratoconus	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	2
HP:0000563	HP:0000563	Keratoconus	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	114
HP:0000563	HP:0000563	Keratoconus	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	HP:0040283 - Occasional	114
HP:0000563	HP:0000563	Keratoconus	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0000563	HP:0000563	Keratoconus	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040282 - Frequent	8
HP:0000563	HP:0000563	Keratoconus	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0000563	HP:0000563	Keratoconus	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	6
HP:0000563	HP:0000563	Keratoconus	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	3
HP:0000563	HP:0000563	Keratoconus	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	1
HP:0000563	HP:0000563	Keratoconus	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	29
HP:0000563	HP:0000563	Keratoconus	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	114
HP:0000563	HP:0000563	Keratoconus	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	97
HP:0000563	HP:0000563	Keratoconus	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	182
HP:0000563	HP:0000563	Keratoconus	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	23
HP:0000563	HP:0000563	Keratoconus	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	147
HP:0000563	HP:0000563	Keratoconus	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	342
HP:0000563	HP:0000563	Keratoconus	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	71
HP:0000563	HP:0000563	Keratoconus	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000563	HP:0000563	Keratoconus	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	60
HP:0000563	HP:0000563	Keratoconus	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	44
HP:0000563	HP:0000563	Keratoconus	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	164
HP:0000563	HP:0000563	Keratoconus	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0000563	HP:0000563	Keratoconus	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0000563	HP:0000563	Keratoconus	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	156
HP:0000563	HP:0000563	Keratoconus	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.	156
HP:0000563	HP:0000563	Keratoconus	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	156
HP:0000563	HP:0000563	Keratoconus	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	158
HP:0000563	HP:0000563	Keratoconus	0	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7	.	158
HP:0000563	HP:0000563	Keratoconus	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	158
HP:0000563	HP:0000563	Keratoconus	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	47
HP:0000563	HP:0000563	Keratoconus	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	1
HP:0000563	HP:0000563	Keratoconus	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	209
HP:0000563	HP:0000563	Keratoconus	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	56
HP:0000563	HP:0000563	Keratoconus	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	26
HP:0000563	HP:0000563	Keratoconus	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	64
HP:0000563	HP:0000563	Keratoconus	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040283 - Occasional	7
HP:0000563	HP:0000563	Keratoconus	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	36
HP:0000563	HP:0000563	Keratoconus	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	124
HP:0000563	HP:0000563	Keratoconus	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.	124
HP:0000563	HP:0000563	Keratoconus	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	86
HP:0000563	HP:0000563	Keratoconus	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0000563	HP:0000563	Keratoconus	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000563	HP:0000563	Keratoconus	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	30
HP:0000563	HP:0000563	Keratoconus	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	148
HP:0000563	HP:0000563	Keratoconus	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	148
HP:0000563	HP:0000563	Keratoconus	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	48
HP:0000563	HP:0000563	Keratoconus	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	3
HP:0000563	HP:0000563	Keratoconus	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	52
HP:0000563	HP:0000563	Keratoconus	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	52
HP:0000563	HP:0000563	Keratoconus	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	4
HP:0000563	HP:0000563	Keratoconus	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	120
HP:0000563	HP:0000563	Keratoconus	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	61
HP:0000563	HP:0000563	Keratoconus	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	42
HP:0000563	HP:0000563	Keratoconus	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000563	HP:0000563	Keratoconus	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	3
HP:0000563	HP:0000563	Keratoconus	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	42
HP:0000563	HP:0000563	Keratoconus	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	70
HP:0000563	HP:0000563	Keratoconus	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0000563	HP:0000563	Keratoconus	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	62
HP:0000563	HP:0000563	Keratoconus	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	62
HP:0000563	HP:0000563	Keratoconus	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	53
HP:0000563	HP:0000563	Keratoconus	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	75
HP:0000563	HP:0000563	Keratoconus	0	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome	HP:0040283 - Occasional	1
HP:0000563	HP:0000563	Keratoconus	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	5
HP:0000563	HP:0000563	Keratoconus	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	15
HP:0000563	HP:0000563	Keratoconus	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0000563	HP:0000563	Keratoconus	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	58
HP:0000563	HP:0000563	Keratoconus	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040284 - Very rare	37
HP:0000563	HP:0000563	Keratoconus	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	30
HP:0000563	HP:0000563	Keratoconus	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	201
HP:0000563	HP:0000563	Keratoconus	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000563	HP:0000563	Keratoconus	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	11
HP:0000563	HP:0000563	Keratoconus	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	116
HP:0000563	HP:0000563	Keratoconus	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	126
HP:0000563	HP:0000563	Keratoconus	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	18
HP:0000563	HP:0000563	Keratoconus	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0000563	HP:0000563	Keratoconus	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0000563	HP:0000563	Keratoconus	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	180
HP:0000563	HP:0000563	Keratoconus	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	39
HP:0000563	HP:0000563	Keratoconus	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	.	58
HP:0000563	HP:0000563	Keratoconus	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	110
HP:0000563	HP:0000563	Keratoconus	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	28
HP:0000563	HP:0000563	Keratoconus	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	70
HP:0000563	HP:0000563	Keratoconus	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	2
HP:0000563	HP:0000563	Keratoconus	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	51
HP:0000563	HP:0000563	Keratoconus	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	94
HP:0000563	HP:0000563	Keratoconus	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	159
HP:0000563	HP:0000563	Keratoconus	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	108
HP:0000563	HP:0000563	Keratoconus	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	95
HP:0000563	HP:0000563	Keratoconus	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	45
HP:0000563	HP:0000563	Keratoconus	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	45
HP:0000563	HP:0000563	Keratoconus	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	5
HP:0000563	HP:0000563	Keratoconus	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	28
HP:0000563	HP:0000563	Keratoconus	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	107
HP:0000563	HP:0000563	Keratoconus	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	47
HP:0000563	HP:0000563	Keratoconus	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	38
HP:0000563	HP:0000563	Keratoconus	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	111
HP:0000563	HP:0000563	Keratoconus	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	284
HP:0000563	HP:0000563	Keratoconus	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	45
HP:0000563	HP:0000563	Keratoconus	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	14
HP:0000563	HP:0000563	Keratoconus	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	129
HP:0000563	HP:0000563	Keratoconus	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	129
HP:0000563	HP:0000563	Keratoconus	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	200
HP:0000563	HP:0000563	Keratoconus	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	109
HP:0000563	HP:0000563	Keratoconus	0	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.	109
HP:0000563	HP:0000563	Keratoconus	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	32
HP:0000563	HP:0000563	Keratoconus	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000563	HP:0000563	Keratoconus	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	48
HP:0000563	HP:0000563	Keratoconus	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0000563	HP:0000563	Keratoconus	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0000563	HP:0000563	Keratoconus	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	4
HP:0000563	HP:0000563	Keratoconus	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	83
HP:0000563	HP:0000563	Keratoconus	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	48
HP:0000563	HP:0000563	Keratoconus	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	48
HP:0000563	HP:0000563	Keratoconus	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	61
HP:0000563	HP:0000563	Keratoconus	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	41
HP:0000563	HP:0000563	Keratoconus	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	1
HP:0000563	HP:0000563	Keratoconus	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0000563	HP:0000563	Keratoconus	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	66
HP:0000563	HP:0000563	Keratoconus	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	66
HP:0000563	HP:0000563	Keratoconus	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	777
HP:0000563	HP:0000563	Keratoconus	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0000563	HP:0000563	Keratoconus	0	VSX1 CL E G H	30813	12723	OMIM:148300	Keratoconus 1	.	47
HP:0000563	HP:0000563	Keratoconus	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	14
HP:0000563	HP:0000563	Keratoconus	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397
HP:0000563	HP:0000563	Keratoconus	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent	27

Genes (111) :ABCA4 AGBL5 AHI1 AHR AIPL1 ANTXR1 AP1B1 ARHGEF18 ARL2BP ARL3 ARL6 BBS1 BBS2 BEST1 CA4 CDHR1 CEP290 CERKL CFAP418 CLRN1 CNGA1 CNGB1 COL3A1 CRB1 CRX DHDDS DHX38 EYS FAM161A FSCN2 GDF6 GNB5 GUCA1B GUCY2D HGSNAT HRAS IDH3A IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG1 IMPG2 IQCB1 KCNJ13 KIAA1549 KIZ KLHL7 LCA5 LMX1B LRAT MAK MERTK MIR184 NEK2 NMNAT1 NR2E3 NR2F1 NRL OFD1 PCARE PCYT1A PDE6A PDE6B PDE6G PIEZO2 PLOD1 POMGNT1 PRCD PRDM5 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RBP3 RD3 RDH12 REEP6 RGR RHO RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 SAG SCAPER SEMA4A SLC2A10 SLC7A14 SNRNP200 SPATA7 TOPORS TTC8 TUB TUBB4B TULP1 USH2A USP45 VSX1 ZNF408 ZNF469 ZNF513

Diseases (25) :ORPHA:791 ORPHA:65 OMIM:604393 OMIM:230740 ORPHA:2067 OMIM:242150 OMIM:130050 ORPHA:286 OMIM:613835 OMIM:613829 ORPHA:542306 OMIM:204000 ORPHA:3071 OMIM:161200 OMIM:614303 OMIM:608553 ORPHA:401777 OMIM:108145 OMIM:225400 OMIM:614170 OMIM:613826 ORPHA:3342 OMIM:208050 OMIM:148300 OMIM:229200

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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