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 retinal morphology (HP:0000479)

Parent Node:
Retinal dystrophy (HP:0000556)

..Starting node
..Rod-cone dystrophy (HP:0000510)

Term ID:

510

Name:

Rod-cone dystrophy

Synonym:

Retinitis pigmentosa; Rod cone dystrophy

Definition:

An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Comments:

Reference:

HP:0000510

Genes and Diseases:

Child Nodes:

........

Pericentral retinitis pigmentosa (HP:0007947)

........

Sectoral retinitis pigmentosa (HP:0031172)

Sister Nodes:

Chorioretinal dystrophy (HP:0001135)

Cone/cone-rod dystrophy (HP:0000548)

Congenital stationary night blindness (HP:0007642)

Macular dystrophy (HP:0007754)

Pattern dystrophy of the retina (HP:0007963)

Retinal dystrophy with early macular involvement (HP:0030635)

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:0000510	HP:0000510	Rod-cone dystrophy	0	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19	.	826
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ADGRV1 CL E G H	84059	17416	OMIM:605472	Usher syndrome, type IIC	.	530
HP:0000510	HP:0000510	Rod-cone dystrophy	0	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75		2
HP:0000510	HP:0000510	Rod-cone dystrophy	0	AHR CL E G H	196	348	OMIM:618345	RETINITIS PIGMENTOSA 85; RP85		2
HP:0000510	HP:0000510	Rod-cone dystrophy	0	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa		114
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040284 - Very rare	66
HP:0000510	HP:0000510	Rod-cone dystrophy	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0000510	HP:0000510	Rod-cone dystrophy	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	.	3
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3		29
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa		29
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ARL6 CL E G H	84100	13210	OMIM:613575	RETINITIS PIGMENTOSA 55; RP55		29
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040283 - Occasional	48
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0000510	HP:0000510	Rod-cone dystrophy	0	BBIP1 CL E G H	92482	28093	OMIM:615995	Bardet-Biedl syndrome 18	.	1
HP:0000510	HP:0000510	Rod-cone dystrophy	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0000510	HP:0000510	Rod-cone dystrophy	0	BBS10 CL E G H	79738	26291	OMIM:615987	Bardet-Biedl syndrome 10	.	118
HP:0000510	HP:0000510	Rod-cone dystrophy	0	BBS12 CL E G H	166379	26648	OMIM:615989	Bardet-Biedl syndrome 12	.	71
HP:0000510	HP:0000510	Rod-cone dystrophy	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2		97
HP:0000510	HP:0000510	Rod-cone dystrophy	0	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74	.	97
HP:0000510	HP:0000510	Rod-cone dystrophy	0	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4	.	87
HP:0000510	HP:0000510	Rod-cone dystrophy	0	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5		25
HP:0000510	HP:0000510	Rod-cone dystrophy	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7		66
HP:0000510	HP:0000510	Rod-cone dystrophy	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0000510	HP:0000510	Rod-cone dystrophy	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0000510	HP:0000510	Rod-cone dystrophy	0	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50	.	182
HP:0000510	HP:0000510	Rod-cone dystrophy	0	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.	20
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93		247
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	36
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	126
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	182
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CDH23 CL E G H	64072	13733	OMIM:601067	Usher syndrome, type ID	.	636
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15		147
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14	.	342
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CEP290 CL E G H	80184	29021	OMIM:610189	Senior-Loken syndrome 6	.	342
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26	.	71
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CIB2 CL E G H	10518	24579	OMIM:614869	Usher syndrome, type IJ	.	15
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.	42
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa		60
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61	.	60
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA	.	60
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa		44
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49		44
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45	.	164
HP:0000510	HP:0000510	Rod-cone dystrophy	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.	54
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12	.	156
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa		158
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.	159
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040282 - Frequent	4
HP:0000510	HP:0000510	Rod-cone dystrophy	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.	47
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DHX38 CL E G H	9785	17211	OMIM:618220	Retinitis pigmentosa 84	.	1
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	116
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	78
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	63
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	27
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	62
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	542
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	527
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	18
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	73
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	104
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	2
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	167
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	44
HP:0000510	HP:0000510	Rod-cone dystrophy	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	HP:0040283 - Occasional
HP:0000510	HP:0000510	Rod-cone dystrophy	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000510	HP:0000510	Rod-cone dystrophy	0	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25		209
HP:0000510	HP:0000510	Rod-cone dystrophy	0	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28		56
HP:0000510	HP:0000510	Rod-cone dystrophy	0	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy	.
HP:0000510	HP:0000510	Rod-cone dystrophy	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0000510	HP:0000510	Rod-cone dystrophy	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040282 - Frequent	111
HP:0000510	HP:0000510	Rod-cone dystrophy	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30		26
HP:0000510	HP:0000510	Rod-cone dystrophy	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	1
HP:0000510	HP:0000510	Rod-cone dystrophy	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	9
HP:0000510	HP:0000510	Rod-cone dystrophy	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040284 - Very rare	83
HP:0000510	HP:0000510	Rod-cone dystrophy	0	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	HP:0040280 - Obligate	129
HP:0000510	HP:0000510	Rod-cone dystrophy	0	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G		39
HP:0000510	HP:0000510	Rod-cone dystrophy	0	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare	4
HP:0000510	HP:0000510	Rod-cone dystrophy	0	GUCA1B CL E G H	2979	4679	OMIM:613827	RETINITIS PIGMENTOSA 48; RP48		36
HP:0000510	HP:0000510	Rod-cone dystrophy	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0000510	HP:0000510	Rod-cone dystrophy	0	HGSNAT CL E G H	138050	26527	OMIM:616544	Retinitis pigmentosa 73	.	86
HP:0000510	HP:0000510	Rod-cone dystrophy	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0000510	HP:0000510	Rod-cone dystrophy	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome	.	2
HP:0000510	HP:0000510	Rod-cone dystrophy	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0000510	HP:0000510	Rod-cone dystrophy	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040284 - Very rare	46
HP:0000510	HP:0000510	Rod-cone dystrophy	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0000510	HP:0000510	Rod-cone dystrophy	0	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46		30
HP:0000510	HP:0000510	Rod-cone dystrophy	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0000510	HP:0000510	Rod-cone dystrophy	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0000510	HP:0000510	Rod-cone dystrophy	0	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71	.	48
HP:0000510	HP:0000510	Rod-cone dystrophy	0	IFT27 CL E G H	11020	18626	OMIM:615996	Bardet-Biedl syndrome 19	.	1
HP:0000510	HP:0000510	Rod-cone dystrophy	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20		3
HP:0000510	HP:0000510	Rod-cone dystrophy	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.	52
HP:0000510	HP:0000510	Rod-cone dystrophy	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0000510	HP:0000510	Rod-cone dystrophy	0	IQCB1 CL E G H	9657	28949	OMIM:609254	Senior-Loken syndrome 5	.	61
HP:0000510	HP:0000510	Rod-cone dystrophy	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000510	HP:0000510	Rod-cone dystrophy	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent	93
HP:0000510	HP:0000510	Rod-cone dystrophy	0	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69	.	3
HP:0000510	HP:0000510	Rod-cone dystrophy	0	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	HP:0040284 - Very rare	42
HP:0000510	HP:0000510	Rod-cone dystrophy	0	KLHL7 CL E G H	55975	15646	OMIM:612943	Retinitis pigmentosa 42	.	42
HP:0000510	HP:0000510	Rod-cone dystrophy	0	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.	62
HP:0000510	HP:0000510	Rod-cone dystrophy	0	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa		62
HP:0000510	HP:0000510	Rod-cone dystrophy	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0000510	HP:0000510	Rod-cone dystrophy	0	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62	.	53
HP:0000510	HP:0000510	Rod-cone dystrophy	0	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3	.	1
HP:0000510	HP:0000510	Rod-cone dystrophy	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	13
HP:0000510	HP:0000510	Rod-cone dystrophy	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	HP:0040283 - Occasional	4
HP:0000510	HP:0000510	Rod-cone dystrophy	0	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38	.	75
HP:0000510	HP:0000510	Rod-cone dystrophy	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0000510	HP:0000510	Rod-cone dystrophy	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6	.	69
HP:0000510	HP:0000510	Rod-cone dystrophy	0	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13		127
HP:0000510	HP:0000510	Rod-cone dystrophy	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0000510	HP:0000510	Rod-cone dystrophy	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0000510	HP:0000510	Rod-cone dystrophy	0	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37	HP:0040283 - Occasional	179
HP:0000510	HP:0000510	Rod-cone dystrophy	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.	516
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000510	HP:0000510	Rod-cone dystrophy	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.	27
HP:0000510	HP:0000510	Rod-cone dystrophy	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	NEK2 CL E G H	4751	7745	OMIM:615565	Retinitis pigmentosa 67	.	5
HP:0000510	HP:0000510	Rod-cone dystrophy	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	50
HP:0000510	HP:0000510	Rod-cone dystrophy	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.	220
HP:0000510	HP:0000510	Rod-cone dystrophy	0	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.	58
HP:0000510	HP:0000510	Rod-cone dystrophy	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.	30
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0000510	HP:0000510	Rod-cone dystrophy	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	201
HP:0000510	HP:0000510	Rod-cone dystrophy	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23	.	201
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PCDH15 CL E G H	65217	14674	OMIM:601067	Usher syndrome, type ID	.	352
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PCDH15 CL E G H	65217	14674	OMIM:602083	Usher syndrome, type IF	.	352
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43		116
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40	.	126
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa		18
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57	.	18
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PDZD7 CL E G H	79955	26257	OMIM:276901	Usher syndrome, type IIA	.	40
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PDZD7 CL E G H	79955	26257	OMIM:605472	Usher syndrome, type IIC	.	40
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	169
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.	169
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	75
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	4
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	65
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.	65
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	66
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	46
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	59
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	62
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	82
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	106
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	47
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	99
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent	98
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B	.	72
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.	72
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.	45
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0000510	HP:0000510	Rod-cone dystrophy	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional	35
HP:0000510	HP:0000510	Rod-cone dystrophy	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36	.	39
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41		110
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18	.	28
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PRPF4 CL E G H	9128	17349	OMIM:615922	Retinitis pigmentosa 70	.	2
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PRPF6 CL E G H	24148	15860	OMIM:613983	Retinitis pigmentosa 60	.	51
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13	.	94
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7	.	159
HP:0000510	HP:0000510	Rod-cone dystrophy	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	HP:0040283 - Occasional	49
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa		108
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.	108
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0000510	HP:0000510	Rod-cone dystrophy	0	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77	.	5
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44		28
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4	.	107
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional	47
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa		38
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7	.	38
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1	.	111
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked	.	45
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	.	14
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20	.	129
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	200
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3	.	200
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	31
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	5
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	58
HP:0000510	HP:0000510	Rod-cone dystrophy	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0000510	HP:0000510	Rod-cone dystrophy	0	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare	32
HP:0000510	HP:0000510	Rod-cone dystrophy	0	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47		32
HP:0000510	HP:0000510	Rod-cone dystrophy	0	SDCCAG8 CL E G H	10806	10671	OMIM:615993	Bardet-Biedl syndrome 16	.	61
HP:0000510	HP:0000510	Rod-cone dystrophy	0	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10	.	48
HP:0000510	HP:0000510	Rod-cone dystrophy	0	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35	.	48
HP:0000510	HP:0000510	Rod-cone dystrophy	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0000510	HP:0000510	Rod-cone dystrophy	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm	.	27
HP:0000510	HP:0000510	Rod-cone dystrophy	0	SLC7A14 CL E G H	57709	29326	OMIM:615725	Retinitis pigmentosa 68	.	4
HP:0000510	HP:0000510	Rod-cone dystrophy	0	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33	.	83
HP:0000510	HP:0000510	Rod-cone dystrophy	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	45
HP:0000510	HP:0000510	Rod-cone dystrophy	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	15
HP:0000510	HP:0000510	Rod-cone dystrophy	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040283 - Occasional	80
HP:0000510	HP:0000510	Rod-cone dystrophy	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	3
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14	.	166
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040281 - Very frequent	166
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31	.	61
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	.	6
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	.	41
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.	41
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.	66
HP:0000510	HP:0000510	Rod-cone dystrophy	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14		66
HP:0000510	HP:0000510	Rod-cone dystrophy	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.	173
HP:0000510	HP:0000510	Rod-cone dystrophy	0	USH1C CL E G H	10083	12597	OMIM:276904	Usher syndrome, type IC	.	173
HP:0000510	HP:0000510	Rod-cone dystrophy	0	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG	.	78
HP:0000510	HP:0000510	Rod-cone dystrophy	0	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39		777
HP:0000510	HP:0000510	Rod-cone dystrophy	0	USH2A CL E G H	7399	12601	OMIM:276901	Usher syndrome, type IIA	.	777
HP:0000510	HP:0000510	Rod-cone dystrophy	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	HP:0040284 - Very rare	2
HP:0000510	HP:0000510	Rod-cone dystrophy	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0000510	HP:0000510	Rod-cone dystrophy	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	.	95
HP:0000510	HP:0000510	Rod-cone dystrophy	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8		95
HP:0000510	HP:0000510	Rod-cone dystrophy	0	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID	.	155
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	.	14
HP:0000510	HP:0000510	Rod-cone dystrophy	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.	27
HP:0000510	HP:0031172	Sectoral retinitis pigmentosa	1	CL E G H
HP:0000510	HP:0007947	Pericentral retinitis pigmentosa	1	CL E G H

Genes (227) :ABCA4 ABHD12 ACBD5 ACOX1 ADGRV1 AGBL5 AHR AIPL1 ALG6 AMACR AP3B2 ARL2 ARL2BP ARL3 ARL6 ASPA ATP6 ATXN2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCS1L BEST1 C1QTNF5 CC2D2A CCDC103 CCDC28B CCDC39 CCDC40 CCDC65 CCNO CDH23 CDHR1 CEP290 CERKL CFAP221 CFAP298 CFAP300 CFAP410 CFAP418 CIB2 CLDN19 CLN3 CLRN1 CNGA1 CNGB1 COQ2 CRB1 CRX CTSD CWC27 DHDDS DHX38 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DPAGT1 DRC1 DYNC2I2 EXOSC2 EYS FAM161A FDXR FLVCR1 FOXJ1 FSCN2 GAS2L2 GAS8 GATA3 GGCX GNAT1 GRK1 GUCA1B HGSNAT HK1 HMX1 HSD17B10 HSPD1 HYDIN IDH3B IFT140 IFT172 IFT27 IFT74 IMPDH1 IMPG2 IQCB1 KIF3B KIF5A KIZ KLHL7 LRAT LRRC56 LZTFL1 MAK MAPKAPK3 MCIDAS MDH2 MERTK MFRP MKKS MKS1 MTTP MVK MYO6 MYO7A ND1 ND2 ND3 ND4 ND5 ND6 NDUFA9 NEK10 NEK2 NME8 NPHP4 NR2E3 NRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PANK2 PCARE PCDH15 PDE6A PDE6B PDE6G PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PMM2 POGZ PPP2R3C PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 RBP3 RDH11 REEP6 RGR RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RPL10 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 SAG SDCCAG8 SEMA4A SH2B1 SLC35A2 SLC7A14 SNRNP200 SPAG1 SPEF2 SRD5A3 STK36 TELO2 TMEM67 TOPORS TRAF3IP1 TRIP13 TRNK TRNL1 TRNT1 TRNV TRNW TTC12 TTC8 TULP1 USH1C USH1G USH2A WARS2 WDR19 WHRN ZMYND10 ZNF408 ZNF513

Diseases (188) :OMIM:601718 OMIM:612674 OMIM:618863 OMIM:264470 OMIM:605472 OMIM:617023 OMIM:618345 OMIM:268000 ORPHA:79320 OMIM:614307 OMIM:617276 OMIM:619082 OMIM:615434 OMIM:618161 OMIM:618173 OMIM:209900 OMIM:600151 OMIM:613575 ORPHA:314918 ORPHA:255210 ORPHA:644 OMIM:551500 OMIM:183090 OMIM:615995 OMIM:615987 OMIM:615989 OMIM:615981 OMIM:616562 OMIM:615982 OMIM:615983 OMIM:615984 OMIM:615986 OMIM:124000 OMIM:613194 OMIM:605670 OMIM:619845 ORPHA:244 OMIM:601067 OMIM:613660 OMIM:615991 OMIM:610188 OMIM:610189 OMIM:608380 OMIM:602271 OMIM:617406 OMIM:614500 OMIM:614869 OMIM:248190 OMIM:204200 OMIM:614180 OMIM:276902 OMIM:613756 OMIM:613767 OMIM:607426 OMIM:600105 OMIM:610127 ORPHA:166035 OMIM:250410 OMIM:613861 OMIM:618220 ORPHA:86309 OMIM:615633 OMIM:617763 OMIM:602772 OMIM:606068 OMIM:617717 OMIM:609033 ORPHA:88628 OMIM:607921 ORPHA:2237 ORPHA:436274 OMIM:616389 ORPHA:75382 OMIM:613827 OMIM:252930 OMIM:616544 OMIM:618547 OMIM:612109 ORPHA:391428 ORPHA:100994 OMIM:612572 OMIM:266920 OMIM:619471 OMIM:616394 OMIM:615996 OMIM:617119 OMIM:180105 OMIM:613581 OMIM:609254 OMIM:618955 ORPHA:100991 OMIM:615780 OMIM:617055 OMIM:612943 OMIM:613341 OMIM:615994 OMIM:614181 OMIM:617111 OMIM:617339 OMIM:613862 OMIM:611040 OMIM:605231 OMIM:615990 ORPHA:14 OMIM:260920 OMIM:607821 OMIM:276900 OMIM:618247 OMIM:615565 OMIM:606996 OMIM:611131 OMIM:613750 OMIM:300804 OMIM:300424 ORPHA:216866 OMIM:607236 OMIM:613428 OMIM:602083 OMIM:613810 OMIM:613801 OMIM:613582 OMIM:276901 ORPHA:772 OMIM:601539 OMIM:266510 OMIM:614867 OMIM:614863 OMIM:614879 OMIM:266500 OMIM:212065 ORPHA:79318 ORPHA:468678 OMIM:616364 OMIM:618419 OMIM:610599 OMIM:612095 OMIM:601414 OMIM:600138 OMIM:615922 OMIM:613983 OMIM:600059 OMIM:608133 OMIM:311070 OMIM:615233 ORPHA:436245 OMIM:617304 OMIM:613769 OMIM:613731 ORPHA:85128 OMIM:180100 OMIM:312600 OMIM:180104 OMIM:613794 OMIM:300029 OMIM:300455 OMIM:300998 ORPHA:459070 OMIM:268315 OMIM:613758 OMIM:615993 OMIM:610283 OMIM:610282 ORPHA:261222 OMIM:300896 OMIM:615725 OMIM:610359 ORPHA:324737 ORPHA:488642 ORPHA:140976 OMIM:602152 OMIM:609923 OMIM:616629 OMIM:617598 OMIM:616084 OMIM:615985 OMIM:613464 OMIM:613843 OMIM:600132 OMIM:276904 OMIM:606943 OMIM:613809 OMIM:617710 ORPHA:572798 OMIM:614378 OMIM:616307 OMIM:611383 OMIM:616469 OMIM:613617

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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