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:
Abnormality of retinal pigmentation (HP:0007703)

..Starting node
..Pigmentary retinopathy (HP:0000580)

Term ID:

580

Name:

Pigmentary retinopathy

Synonym:

Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration

Definition:

An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Comments:

Reference:

HP:0000580

Genes and Diseases:

Child Nodes:

........

Bone spicule pigmentation of the retina (HP:0007737)

........

Nummular pigmentation of the fundus (HP:0030505)

Sister Nodes:

Retinal pigment epithelial mottling (HP:0007814)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000580	HP:0000580	Pigmentary retinopathy	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	665	119	609751
HP:0000580	HP:0000580	Pigmentary retinopathy	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0000580	HP:0000580	Pigmentary retinopathy	0	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	1	1035	360	607358
HP:0000580	HP:0000580	Pigmentary retinopathy	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	428	606844
HP:0000580	HP:0000580	Pigmentary retinopathy	0	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	392	451	604489
HP:0000580	HP:0000580	Pigmentary retinopathy	0	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0000580	HP:0000580	Pigmentary retinopathy	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0000580	HP:0000580	Pigmentary retinopathy	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	340	25419	608922
HP:0000580	HP:0000580	Pigmentary retinopathy	0	ARL6 CL E G H	84100	110				ORPHA	1	201	13210	608845
HP:0000580	HP:0000580	Pigmentary retinopathy	0	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	98	10560	607640
HP:0000580	HP:0000580	Pigmentary retinopathy	0	BBIP1 CL E G H	92482	110				ORPHA	1	98	28093	613605
HP:0000580	HP:0000580	Pigmentary retinopathy	0	BBS1 CL E G H	582	110				ORPHA	1	874	966	209901
HP:0000580	HP:0000580	Pigmentary retinopathy	0	BBS10 CL E G H	79738	110				ORPHA	1	756	26291	610148
HP:0000580	HP:0000580	Pigmentary retinopathy	0	BBS12 CL E G H	166379	110				ORPHA	1	634	26648	610683
HP:0000580	HP:0000580	Pigmentary retinopathy	0	BBS2 CL E G H	583	110				ORPHA	1	894	967	606151
HP:0000580	HP:0000580	Pigmentary retinopathy	0	BBS2 CL E G H	583	616562	Retinitis pigmentosa 74	616562	C4225281	OMIM	1	894	967	606151
HP:0000580	HP:0000580	Pigmentary retinopathy	0	BBS4 CL E G H	585	110				ORPHA	1	563	969	600374
HP:0000580	HP:0000580	Pigmentary retinopathy	0	BBS5 CL E G H	129880	110				ORPHA	1	288	970	603650
HP:0000580	HP:0000580	Pigmentary retinopathy	0	BBS7 CL E G H	55212	110				ORPHA	1	506	18758	607590
HP:0000580	HP:0000580	Pigmentary retinopathy	0	BBS9 CL E G H	27241	110				ORPHA	1	775	30000	607968
HP:0000580	HP:0000580	Pigmentary retinopathy	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000580	HP:0000580	Pigmentary retinopathy	0	BEST1 CL E G H	7439	193220	Vitreoretinochoroidopathy	193220	C1860406	OMIM	1	793	12703	607854
HP:0000580	HP:0000580	Pigmentary retinopathy	0	C8orf37 CL E G H	157657	110				ORPHA	1		27232	614477
HP:0000580	HP:0000580	Pigmentary retinopathy	0	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	135	1527	601047
HP:0000580	HP:0000580	Pigmentary retinopathy	0	CEP290 CL E G H	80184	110				ORPHA	1	2944	29021	610142
HP:0000580	HP:0000580	Pigmentary retinopathy	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0000580	HP:0000580	Pigmentary retinopathy	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0000580	HP:0000580	Pigmentary retinopathy	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000580	HP:0000580	Pigmentary retinopathy	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0000580	HP:0000580	Pigmentary retinopathy	0	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000580	HP:0000580	Pigmentary retinopathy	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000580	HP:0000580	Pigmentary retinopathy	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0000580	HP:0000580	Pigmentary retinopathy	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0000580	HP:0000580	Pigmentary retinopathy	0	COX7B CL E G H	1349	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	181	2291	300885
HP:0000580	HP:0000580	Pigmentary retinopathy	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0000580	HP:0000580	Pigmentary retinopathy	0	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0000580	HP:0000580	Pigmentary retinopathy	0	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	778	2518	606272
HP:0000580	HP:0000580	Pigmentary retinopathy	0	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000580	HP:0000580	Pigmentary retinopathy	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0000580	HP:0000580	Pigmentary retinopathy	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1645	3438	609413
HP:0000580	HP:0000580	Pigmentary retinopathy	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	484	3439	609412
HP:0000580	HP:0000580	Pigmentary retinopathy	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0000580	HP:0000580	Pigmentary retinopathy	0	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000580	HP:0000580	Pigmentary retinopathy	0	GSS CL E G H	2937	266130	Gluthathione synthetase deficiency	266130	C0398746	OMIM	1	211	4624	601002
HP:0000580	HP:0000580	Pigmentary retinopathy	0	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0000580	HP:0000580	Pigmentary retinopathy	0	HADHA CL E G H	3030	609016	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	609016	CN074230	OMIM	1	792	4801	600890
HP:0000580	HP:0000580	Pigmentary retinopathy	0	HCCS CL E G H	3052	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	234	4837	300056
HP:0000580	HP:0000580	Pigmentary retinopathy	0	IFT172 CL E G H	26160	110				ORPHA	1	1356	30391	607386
HP:0000580	HP:0000580	Pigmentary retinopathy	0	IFT27 CL E G H	11020	110				ORPHA	1	161	18626	615870
HP:0000580	HP:0000580	Pigmentary retinopathy	0	IMPG2 CL E G H	50939	613581	Retinitis pigmentosa 56	613581	C3150819	OMIM	1	909	18362	607056
HP:0000580	HP:0000580	Pigmentary retinopathy	0	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0000580	HP:0000580	Pigmentary retinopathy	0	KIZ CL E G H	55857	615780	Retinitis pigmentosa 69	615780	C4014312	OMIM	1	416	15865	615757
HP:0000580	HP:0000580	Pigmentary retinopathy	0	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000580	HP:0000580	Pigmentary retinopathy	0	LZTFL1 CL E G H	54585	110				ORPHA	1	162	6741	606568
HP:0000580	HP:0000580	Pigmentary retinopathy	0	MFSD8 CL E G H	256471	610951	Ceroid lipofuscinosis neuronal 7	610951	C1838571	OMIM	1	869	28486	611124
HP:0000580	HP:0000580	Pigmentary retinopathy	0	MKKS CL E G H	8195	110				ORPHA	1	432	7108	604896
HP:0000580	HP:0000580	Pigmentary retinopathy	0	MKS1 CL E G H	54903	110				ORPHA	1	839	7121	609883
HP:0000580	HP:0000580	Pigmentary retinopathy	0	MMACHC CL E G H	25974	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	524	24525	609831
HP:0000580	HP:0000580	Pigmentary retinopathy	0	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	158	29678	617619
HP:0000580	HP:0000580	Pigmentary retinopathy	0	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0000580	HP:0000580	Pigmentary retinopathy	0	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0000580	HP:0000580	Pigmentary retinopathy	0	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFB11 CL E G H	54539	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	209	20372	300403
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NPHP1 CL E G H	4867	110				ORPHA	1	815	7905	607100
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NR2E3 CL E G H	10002	268100	Enhanced s-cone syndrome	268100	C1849394	OMIM	1	607	7974	604485
HP:0000580	HP:0000580	Pigmentary retinopathy	0	NR2E3 CL E G H	10002	611131	Retinitis pigmentosa 37	611131	C1970163	OMIM	1	607	7974	604485
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PANK2 CL E G H	80025	216866				ORPHA	1	499	15894	606157
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PDE6A CL E G H	5145	613810	Retinitis pigmentosa 43	613810	C3151139	OMIM	1	834	8785	180071
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	1537	8850	602136
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PEX2 CL E G H	5828	614866	Peroxisome biogenesis disorder 5a (zellweger)	614866	C3553940	OMIM	1	463	9717	170993
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	858	9719	600414
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PNPLA6 CL E G H	10908	245800	Laurence-Moon syndrome	245800	C0023138	OMIM	1	1216	16268	603197
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PNPLA6 CL E G H	10908	275400	Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina	275400	C1848745	OMIM	1	1216	16268	603197
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PRDX1 CL E G H	5052	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	64	9352	176763
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PRPH2 CL E G H	5961	608133	Retinitis pigmentosa 7	608133	C1842475	OMIM	1	702	9942	179605
HP:0000580	HP:0000580	Pigmentary retinopathy	0	RHO CL E G H	6010	613731	Retinitis pigmentosa 4	613731	C3151001	OMIM	1	537	10012	180380
HP:0000580	HP:0000580	Pigmentary retinopathy	0	ROM1 CL E G H	6094	608133	Retinitis pigmentosa 7	608133	C1842475	OMIM	1	311	10254	180721
HP:0000580	HP:0000580	Pigmentary retinopathy	0	RP2 CL E G H	6102	312600	Retinitis pigmentosa 2	312600	C2681923	OMIM	1	484	10274	300757
HP:0000580	HP:0000580	Pigmentary retinopathy	0	RPE65 CL E G H	6121	204100	Leber congenital amaurosis 2	204100	C1859844	OMIM	1	783	10294	180069
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SAG CL E G H	6295	613758	Retinitis pigmentosa 47	613758	C3151061	OMIM	1	430	10521	181031
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SDCCAG8 CL E G H	10806	110				ORPHA	1	651	10671	613524
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000580	HP:0000580	Pigmentary retinopathy	0	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000580	HP:0000580	Pigmentary retinopathy	0	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0000580	HP:0000580	Pigmentary retinopathy	0	TRIM32 CL E G H	22954	110				ORPHA	1	627	16380	602290
HP:0000580	HP:0000580	Pigmentary retinopathy	0	TRIM37 CL E G H	4591	253250	Mulibrey nanism syndrome	253250	C0524582	OMIM	1	374	7523	605073
HP:0000580	HP:0000580	Pigmentary retinopathy	0	TTC8 CL E G H	123016	110				ORPHA	1	427	20087	608132
HP:0000580	HP:0000580	Pigmentary retinopathy	0	TULP1 CL E G H	7287	613843	Leber congenital amaurosis 15	613843	C3151206	OMIM	1	587	12423	602280
HP:0000580	HP:0000580	Pigmentary retinopathy	0	WDPCP CL E G H	51057	110				ORPHA	1	587	28027	613580
HP:0000580	HP:0000580	Pigmentary retinopathy	0	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000580	HP:0000580	Pigmentary retinopathy	0	ZFYVE26 CL E G H	23503	100996				ORPHA	1	2408	20761	612012
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	665	119	609751
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	665	119	609751
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	1	1035	360	607358
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	1	1035	360	607358
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	428	606844
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	428	606844
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	392	451	604489
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	392	451	604489
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	340	25419	608922
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	340	25419	608922
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	ARL6 CL E G H	84100	110				ORPHA	1	201	13210	608845
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	ARL6 CL E G H	84100	110				ORPHA	1	201	13210	608845
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	98	10560	607640
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	ATXN7 CL E G H	6314	164500	Spinocerebellar ataxia 7	164500	C0752125	OMIM	1	98	10560	607640
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	BBIP1 CL E G H	92482	110				ORPHA	1	98	28093	613605
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	BBIP1 CL E G H	92482	110				ORPHA	1	98	28093	613605
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	BBS1 CL E G H	582	110				ORPHA	1	874	966	209901
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	BBS1 CL E G H	582	110				ORPHA	1	874	966	209901
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	BBS10 CL E G H	79738	110				ORPHA	1	756	26291	610148
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	BBS10 CL E G H	79738	110				ORPHA	1	756	26291	610148
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	BBS12 CL E G H	166379	110				ORPHA	1	634	26648	610683
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	BBS12 CL E G H	166379	110				ORPHA	1	634	26648	610683
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	BBS2 CL E G H	583	110				ORPHA	1	894	967	606151
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	BBS2 CL E G H	583	110				ORPHA	1	894	967	606151
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	BBS2 CL E G H	583	616562	Retinitis pigmentosa 74	616562	C4225281	OMIM	1	894	967	606151
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	BBS2 CL E G H	583	616562	Retinitis pigmentosa 74	616562	C4225281	OMIM	1	894	967	606151
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	BBS4 CL E G H	585	110				ORPHA	1	563	969	600374
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	BBS4 CL E G H	585	110				ORPHA	1	563	969	600374
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	BBS5 CL E G H	129880	110				ORPHA	1	288	970	603650
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	BBS5 CL E G H	129880	110				ORPHA	1	288	970	603650
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	BBS7 CL E G H	55212	110				ORPHA	1	506	18758	607590
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	BBS7 CL E G H	55212	110				ORPHA	1	506	18758	607590
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	BBS9 CL E G H	27241	110				ORPHA	1	775	30000	607968
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	BBS9 CL E G H	27241	110				ORPHA	1	775	30000	607968
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	BEST1 CL E G H	7439	193220	Vitreoretinochoroidopathy	193220	C1860406	OMIM	1	793	12703	607854
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	BEST1 CL E G H	7439	193220	Vitreoretinochoroidopathy	193220	C1860406	OMIM	1	793	12703	607854
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	C8orf37 CL E G H	157657	110				ORPHA	1		27232	614477
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	C8orf37 CL E G H	157657	110				ORPHA	1		27232	614477
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	135	1527	601047
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	135	1527	601047
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	CEP290 CL E G H	80184	110				ORPHA	1	2944	29021	610142
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	CEP290 CL E G H	80184	110				ORPHA	1	2944	29021	610142
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	COX7B CL E G H	1349	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	181	2291	300885
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	COX7B CL E G H	1349	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	181	2291	300885
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	778	2518	606272
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	778	2518	606272
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	523	3435	133510
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1645	3438	609413
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1645	3438	609413
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	484	3439	609412
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	484	3439	609412
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	GSS CL E G H	2937	266130	Gluthathione synthetase deficiency	266130	C0398746	OMIM	1	211	4624	601002
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	GSS CL E G H	2937	266130	Gluthathione synthetase deficiency	266130	C0398746	OMIM	1	211	4624	601002
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	HADHA CL E G H	3030	609016	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	609016	CN074230	OMIM	1	792	4801	600890
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	HADHA CL E G H	3030	609016	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	609016	CN074230	OMIM	1	792	4801	600890
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	HCCS CL E G H	3052	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	234	4837	300056
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	HCCS CL E G H	3052	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	234	4837	300056
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	IFT172 CL E G H	26160	110				ORPHA	1	1356	30391	607386
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	IFT172 CL E G H	26160	110				ORPHA	1	1356	30391	607386
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	IFT27 CL E G H	11020	110				ORPHA	1	161	18626	615870
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	IFT27 CL E G H	11020	110				ORPHA	1	161	18626	615870
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	IMPG2 CL E G H	50939	613581	Retinitis pigmentosa 56	613581	C3150819	OMIM	1	909	18362	607056
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	IMPG2 CL E G H	50939	613581	Retinitis pigmentosa 56	613581	C3150819	OMIM	1	909	18362	607056
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	KIZ CL E G H	55857	615780	Retinitis pigmentosa 69	615780	C4014312	OMIM	1	416	15865	615757
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	KIZ CL E G H	55857	615780	Retinitis pigmentosa 69	615780	C4014312	OMIM	1	416	15865	615757
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	LZTFL1 CL E G H	54585	110				ORPHA	1	162	6741	606568
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	LZTFL1 CL E G H	54585	110				ORPHA	1	162	6741	606568
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	MFSD8 CL E G H	256471	610951	Ceroid lipofuscinosis neuronal 7	610951	C1838571	OMIM	1	869	28486	611124
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	MFSD8 CL E G H	256471	610951	Ceroid lipofuscinosis neuronal 7	610951	C1838571	OMIM	1	869	28486	611124
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	MKKS CL E G H	8195	110				ORPHA	1	432	7108	604896
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	MKKS CL E G H	8195	110				ORPHA	1	432	7108	604896
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	MKS1 CL E G H	54903	110				ORPHA	1	839	7121	609883
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	MKS1 CL E G H	54903	110				ORPHA	1	839	7121	609883
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	MMACHC CL E G H	25974	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	524	24525	609831
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	MMACHC CL E G H	25974	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	524	24525	609831
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	158	29678	617619
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	158	29678	617619
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFB11 CL E G H	54539	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	209	20372	300403
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFB11 CL E G H	54539	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	209	20372	300403
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NPHP1 CL E G H	4867	110				ORPHA	1	815	7905	607100
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NPHP1 CL E G H	4867	110				ORPHA	1	815	7905	607100
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NR2E3 CL E G H	10002	268100	Enhanced s-cone syndrome	268100	C1849394	OMIM	1	607	7974	604485
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NR2E3 CL E G H	10002	268100	Enhanced s-cone syndrome	268100	C1849394	OMIM	1	607	7974	604485
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	NR2E3 CL E G H	10002	611131	Retinitis pigmentosa 37	611131	C1970163	OMIM	1	607	7974	604485
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	NR2E3 CL E G H	10002	611131	Retinitis pigmentosa 37	611131	C1970163	OMIM	1	607	7974	604485
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PANK2 CL E G H	80025	216866				ORPHA	1	499	15894	606157
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PANK2 CL E G H	80025	216866				ORPHA	1	499	15894	606157
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PDE6A CL E G H	5145	613810	Retinitis pigmentosa 43	613810	C3151139	OMIM	1	834	8785	180071
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PDE6A CL E G H	5145	613810	Retinitis pigmentosa 43	613810	C3151139	OMIM	1	834	8785	180071
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	1537	8850	602136
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	1537	8850	602136
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PEX2 CL E G H	5828	614866	Peroxisome biogenesis disorder 5a (zellweger)	614866	C3553940	OMIM	1	463	9717	170993
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PEX2 CL E G H	5828	614866	Peroxisome biogenesis disorder 5a (zellweger)	614866	C3553940	OMIM	1	463	9717	170993
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	858	9719	600414
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	858	9719	600414
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PNPLA6 CL E G H	10908	245800	Laurence-Moon syndrome	245800	C0023138	OMIM	1	1216	16268	603197
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PNPLA6 CL E G H	10908	245800	Laurence-Moon syndrome	245800	C0023138	OMIM	1	1216	16268	603197
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PNPLA6 CL E G H	10908	275400	Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina	275400	C1848745	OMIM	1	1216	16268	603197
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PNPLA6 CL E G H	10908	275400	Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina	275400	C1848745	OMIM	1	1216	16268	603197
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PRDX1 CL E G H	5052	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	64	9352	176763
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PRDX1 CL E G H	5052	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	64	9352	176763
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PRPH2 CL E G H	5961	608133	Retinitis pigmentosa 7	608133	C1842475	OMIM	1	702	9942	179605
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PRPH2 CL E G H	5961	608133	Retinitis pigmentosa 7	608133	C1842475	OMIM	1	702	9942	179605
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	RHO CL E G H	6010	613731	Retinitis pigmentosa 4	613731	C3151001	OMIM	1	537	10012	180380
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	RHO CL E G H	6010	613731	Retinitis pigmentosa 4	613731	C3151001	OMIM	1	537	10012	180380
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	ROM1 CL E G H	6094	608133	Retinitis pigmentosa 7	608133	C1842475	OMIM	1	311	10254	180721
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	ROM1 CL E G H	6094	608133	Retinitis pigmentosa 7	608133	C1842475	OMIM	1	311	10254	180721
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	RP2 CL E G H	6102	312600	Retinitis pigmentosa 2	312600	C2681923	OMIM	1	484	10274	300757
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	RP2 CL E G H	6102	312600	Retinitis pigmentosa 2	312600	C2681923	OMIM	1	484	10274	300757
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	RPE65 CL E G H	6121	204100	Leber congenital amaurosis 2	204100	C1859844	OMIM	1	783	10294	180069
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	RPE65 CL E G H	6121	204100	Leber congenital amaurosis 2	204100	C1859844	OMIM	1	783	10294	180069
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SAG CL E G H	6295	613758	Retinitis pigmentosa 47	613758	C3151061	OMIM	1	430	10521	181031
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SAG CL E G H	6295	613758	Retinitis pigmentosa 47	613758	C3151061	OMIM	1	430	10521	181031
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SDCCAG8 CL E G H	10806	110				ORPHA	1	651	10671	613524
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SDCCAG8 CL E G H	10806	110				ORPHA	1	651	10671	613524
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	TRIM32 CL E G H	22954	110				ORPHA	1	627	16380	602290
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	TRIM32 CL E G H	22954	110				ORPHA	1	627	16380	602290
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	TRIM37 CL E G H	4591	253250	Mulibrey nanism syndrome	253250	C0524582	OMIM	1	374	7523	605073
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	TRIM37 CL E G H	4591	253250	Mulibrey nanism syndrome	253250	C0524582	OMIM	1	374	7523	605073
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	TTC8 CL E G H	123016	110				ORPHA	1	427	20087	608132
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	TTC8 CL E G H	123016	110				ORPHA	1	427	20087	608132
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	TULP1 CL E G H	7287	613843	Leber congenital amaurosis 15	613843	C3151206	OMIM	1	587	12423	602280
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	TULP1 CL E G H	7287	613843	Leber congenital amaurosis 15	613843	C3151206	OMIM	1	587	12423	602280
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	WDPCP CL E G H	51057	110				ORPHA	1	587	28027	613580
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	WDPCP CL E G H	51057	110				ORPHA	1	587	28027	613580
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	ZFYVE26 CL E G H	23503	100996				ORPHA	1	2408	20761	612012
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	ZFYVE26 CL E G H	23503	100996				ORPHA	1	2408	20761	612012
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000580	HP:0000580	Pigmentary retinopathy	0	ATP1A2 CL E G H	477	569				ORPHA	0	1117	800	182340
HP:0000580	HP:0000580	Pigmentary retinopathy	0	CACNA1A CL E G H	773	569				ORPHA	0	3248	1388	601011
HP:0000580	HP:0000580	Pigmentary retinopathy	0	HADH CL E G H	3033	71212				ORPHA	0	229	4799	601609
HP:0000580	HP:0000580	Pigmentary retinopathy	0	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	792	4801	600890
HP:0000580	HP:0000580	Pigmentary retinopathy	0	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	0	792	4801	600890
HP:0000580	HP:0000580	Pigmentary retinopathy	0	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	367	4803	143450
HP:0000580	HP:0000580	Pigmentary retinopathy	0	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	0	367	4803	143450
HP:0000580	HP:0000580	Pigmentary retinopathy	0	MSTO1 CL E G H	55154	502423				ORPHA	0	158	29678	617619
HP:0000580	HP:0000580	Pigmentary retinopathy	0	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	0	936	19743	607439
HP:0000580	HP:0000580	Pigmentary retinopathy	0	PRRT2 CL E G H	112476	569				ORPHA	0	799	30500	614386
HP:0000580	HP:0000580	Pigmentary retinopathy	0	RNASEH1 CL E G H	246243	329336				ORPHA	0	189	18466	604123
HP:0000580	HP:0000580	Pigmentary retinopathy	0	RRM2B CL E G H	50484	329336				ORPHA	0	354	17296	604712
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SCN1A CL E G H	6323	569				ORPHA	0	4030	10585	182389
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0000580	HP:0000580	Pigmentary retinopathy	0	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	ATP1A2 CL E G H	477	569				ORPHA	0	1117	800	182340
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	ATP1A2 CL E G H	477	569				ORPHA	0	1117	800	182340
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	CACNA1A CL E G H	773	569				ORPHA	0	3248	1388	601011
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	CACNA1A CL E G H	773	569				ORPHA	0	3248	1388	601011
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	HADH CL E G H	3033	71212				ORPHA	0	229	4799	601609
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	HADH CL E G H	3033	71212				ORPHA	0	229	4799	601609
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	792	4801	600890
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	792	4801	600890
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	0	792	4801	600890
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	0	792	4801	600890
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	367	4803	143450
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	367	4803	143450
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	0	367	4803	143450
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	0	367	4803	143450
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	MSTO1 CL E G H	55154	502423				ORPHA	0	158	29678	617619
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	MSTO1 CL E G H	55154	502423				ORPHA	0	158	29678	617619
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	0	936	19743	607439
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	0	936	19743	607439
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	PRRT2 CL E G H	112476	569				ORPHA	0	799	30500	614386
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	PRRT2 CL E G H	112476	569				ORPHA	0	799	30500	614386
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	RNASEH1 CL E G H	246243	329336				ORPHA	0	189	18466	604123
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	RNASEH1 CL E G H	246243	329336				ORPHA	0	189	18466	604123
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	RRM2B CL E G H	50484	329336				ORPHA	0	354	17296	604712
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	RRM2B CL E G H	50484	329336				ORPHA	0	354	17296	604712
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SCN1A CL E G H	6323	569				ORPHA	0	4030	10585	182389
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SCN1A CL E G H	6323	569				ORPHA	0	4030	10585	182389
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0000580	HP:0030505	Nummular pigmentation of the fundus	1	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0000580	HP:0007737	Bone spicule pigmentation of the retina	1	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690

Genes (142) :ABCA4 ACOX1 AHI1 AIRE ALMS1 AMACR APOPT1 ARL13B ARL6 ATP1A2 ATXN7 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCS1L BEST1 C8ORF37 C8orf37 CA4 CACNA1A CAV1 CEP290 CLRN1 CNGB1 COA7 COA8 COX10 COX14 COX15 COX20 COX6B1 COX7B COX8A CRB1 CRX CTNS ECHS1 ERCC3 ERCC6 ERCC8 EYS FAM161A FASTKD2 FLVCR1 FOXRED1 FSCN2 GSS GUCY2D HADH HADHA HADHB HCCS IFT172 IFT27 IMPDH1 IMPG2 JAG1 KIZ LIPT1 LZTFL1 MFRP MFSD8 MKKS MKS1 MMACHC MSTO1 MT-TN MT-TS1 MTFMT NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFB11 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NPHP1 NR2E3 PANK2 PCARE PDE6A PDHA1 PET100 PEX1 PEX2 PEX5 PNPLA6 POMT2 PRCD PRDX1 PRPF31 PRPH2 PRRT2 RHO RNASEH1 ROM1 RP1 RP2 RP9 RPE65 RRM2B SAG SCN1A SCO1 SDCCAG8 SDHA SDHAF1 SDHB SDHD SLC19A3 SNRNP200 SURF1 TACO1 TRIM32 TRIM37 TRNN TRNS1 TTC8 TULP1 USH2A VPS13B WDPCP WFS1 ZFYVE26 ZNF513

Diseases (84) :264470 608629 240300 203800 614307 612291 110 569 164500 616562 256000 193220 606721 220110 436271 255241 309801 411629 219800 610651 133540 216400 266130 204000 71212 746 609016 609015 613581 118450 615780 610951 277400 502423 617675 268100 611131 216866 234200 613810 214100 614866 214110 245800 275400 613156 608133 613731 329336 312600 204100 613758 3208 252011 253250 613843 222300 100996 601718 614500 600852 614180 613767 172870 120970 602772 606068 88628 609033 607921 180105 611040 613428 610599 600138 610445 180100 180104 610359 613464 600132 613809 216550 613617

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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