Human Phenotype Ontology 
Grandparent Node:
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Abnormal retinal morphology (HP:0000479)help
Parent Node:
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Abnormality of retinal pigmentation (HP:0007703)help
..Starting node
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Pigmentary retinopathy (HP:0000580)help
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:
........expandBone spicule pigmentation of the retina (HP:0007737) help
........expandNummular pigmentation of the fundus (HP:0030505) help

 Sister Nodes: 
..expandRetinal pigment epithelial mottling (HP:0007814) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000580HP:0000580Pigmentary retinopathy0ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0000580HP:0000580Pigmentary retinopathy0ABCA4 CL E G H2434OMIM:601718Retinitis pigmentosa 19826
HP:0000580HP:0000580Pigmentary retinopathy0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0000580HP:0000580Pigmentary retinopathy0AGBL5 CL E G H6050926147OMIM:617023Retinitis pigmentosa 752
HP:0000580HP:0000580Pigmentary retinopathy0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0000580HP:0000580Pigmentary retinopathy0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000580HP:0000580Pigmentary retinopathy0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000580HP:0000580Pigmentary retinopathy0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiencyHP:0040282 - Frequent44
HP:0000580HP:0000580Pigmentary retinopathy0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0000580HP:0000580Pigmentary retinopathy0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0000580HP:0000580Pigmentary retinopathy0ARL3 CL E G H403694OMIM:618173RETINITIS PIGMENTOSA 83; RP831
HP:0000580HP:0000580Pigmentary retinopathy0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent29
HP:0000580HP:0000580Pigmentary retinopathy0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0000580HP:0000580Pigmentary retinopathy0ARL6 CL E G H8410013210OMIM:600151Bardet-Biedl syndrome 329
HP:0000580HP:0000580Pigmentary retinopathy0ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0000580HP:0000580Pigmentary retinopathy0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0000580HP:0000580Pigmentary retinopathy0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II.8
HP:0000580HP:0000580Pigmentary retinopathy0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0000580HP:0000580Pigmentary retinopathy0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent114
HP:0000580HP:0000580Pigmentary retinopathy0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0000580HP:0000580Pigmentary retinopathy0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent118
HP:0000580HP:0000580Pigmentary retinopathy0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent71
HP:0000580HP:0000580Pigmentary retinopathy0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent97
HP:0000580HP:0000580Pigmentary retinopathy0BBS2 CL E G H583967OMIM:616562Retinitis pigmentosa 74.97
HP:0000580HP:0000580Pigmentary retinopathy0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent87
HP:0000580HP:0000580Pigmentary retinopathy0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent25
HP:0000580HP:0000580Pigmentary retinopathy0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent66
HP:0000580HP:0000580Pigmentary retinopathy0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent119
HP:0000580HP:0000580Pigmentary retinopathy0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0000580HP:0000580Pigmentary retinopathy0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0000580HP:0000580Pigmentary retinopathy0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0000580HP:0000580Pigmentary retinopathy0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0000580HP:0000580Pigmentary retinopathy0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0000580HP:0000580Pigmentary retinopathy0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent342
HP:0000580HP:0000580Pigmentary retinopathy0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0000580HP:0000580Pigmentary retinopathy0CFAP418 CL E G H15765727232OMIM:614500Cone-Rod dystrophy 16
HP:0000580HP:0000580Pigmentary retinopathy0CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0000580HP:0000580Pigmentary retinopathy0CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0000580HP:0000580Pigmentary retinopathy0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0000580HP:0000580Pigmentary retinopathy0CLRN1 CL E G H740112605OMIM:614180Retinitis pigmentosa 6160
HP:0000580HP:0000580Pigmentary retinopathy0CNGA1 CL E G H12592148OMIM:613756RETINITIS PIGMENTOSA 49; RP4944
HP:0000580HP:0000580Pigmentary retinopathy0CNGB1 CL E G H12582151OMIM:613767Retinitis pigmentosa 45164
HP:0000580HP:0000580Pigmentary retinopathy0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0000580HP:0000580Pigmentary retinopathy0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0000580HP:0000580Pigmentary retinopathy0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0000580HP:0000580Pigmentary retinopathy0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0000580HP:0000580Pigmentary retinopathy0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0000580HP:0000580Pigmentary retinopathy0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0000580HP:0000580Pigmentary retinopathy0CRB1 CL E G H234182343OMIM:172870Pigmented paravenous chorioretinal atrophy156
HP:0000580HP:0000580Pigmentary retinopathy0CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0000580HP:0000580Pigmentary retinopathy0CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0000580HP:0000580Pigmentary retinopathy0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0000580HP:0000580Pigmentary retinopathy0CTNS CL E G H14972518ORPHA:411629Infantile nephropathic cystinosisHP:0040282 - Frequent178
HP:0000580HP:0000580Pigmentary retinopathy0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040283 - Occasional126
HP:0000580HP:0000580Pigmentary retinopathy0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0000580HP:0000580Pigmentary retinopathy0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0000580HP:0000580Pigmentary retinopathy0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent158
HP:0000580HP:0000580Pigmentary retinopathy0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent199
HP:0000580HP:0000580Pigmentary retinopathy0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000580HP:0000580Pigmentary retinopathy0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000580HP:0000580Pigmentary retinopathy0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent55
HP:0000580HP:0000580Pigmentary retinopathy0EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0000580HP:0000580Pigmentary retinopathy0FAM161A CL E G H8414025808OMIM:606068RETINITIS PIGMENTOSA 28; RP2856
HP:0000580HP:0000580Pigmentary retinopathy0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0000580HP:0000580Pigmentary retinopathy0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0000580HP:0000580Pigmentary retinopathy0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040282 - Frequent111
HP:0000580HP:0000580Pigmentary retinopathy0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0000580HP:0000580Pigmentary retinopathy0FSCN2 CL E G H257943960OMIM:607921RETINITIS PIGMENTOSA 30; RP3026
HP:0000580HP:0000580Pigmentary retinopathy0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0000580HP:0000580Pigmentary retinopathy0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency.39
HP:0000580HP:0000580Pigmentary retinopathy0GUCY2D CL E G H30004689OMIM:215500Choroidal dystrophy, central areolar 1124
HP:0000580HP:0000580Pigmentary retinopathy0GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0000580HP:0000580Pigmentary retinopathy0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0000580HP:0000580Pigmentary retinopathy0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional41
HP:0000580HP:0000580Pigmentary retinopathy0HADHA CL E G H30304801OMIM:609016Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency.99
HP:0000580HP:0000580Pigmentary retinopathy0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0000580HP:0000580Pigmentary retinopathy0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional99
HP:0000580HP:0000580Pigmentary retinopathy0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional60
HP:0000580HP:0000580Pigmentary retinopathy0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0000580HP:0000580Pigmentary retinopathy0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 7.11
HP:0000580HP:0000580Pigmentary retinopathy0HK1 CL E G H30984922OMIM:617460Retinitis pigmentosa 7911
HP:0000580HP:0000580Pigmentary retinopathy0HKDC1 CL E G H8020123302OMIM:619614RETINITIS PIGMENTOSA 92; RP922
HP:0000580HP:0000580Pigmentary retinopathy0IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0000580HP:0000580Pigmentary retinopathy0IDH3B CL E G H34205385OMIM:612572RETINITIS PIGMENTOSA 46; RP4630
HP:0000580HP:0000580Pigmentary retinopathy0IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80148
HP:0000580HP:0000580Pigmentary retinopathy0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent48
HP:0000580HP:0000580Pigmentary retinopathy0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0000580HP:0000580Pigmentary retinopathy0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent3
HP:0000580HP:0000580Pigmentary retinopathy0IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 1052
HP:0000580HP:0000580Pigmentary retinopathy0IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0000580HP:0000580Pigmentary retinopathy0ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 5HP:0040284 - Very rare1
HP:0000580HP:0000580Pigmentary retinopathy0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000580HP:0000580Pigmentary retinopathy0KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0000580HP:0000580Pigmentary retinopathy0KIZ CL E G H5585715865OMIM:615780Retinitis pigmentosa 69.3
HP:0000580HP:0000580Pigmentary retinopathy0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0000580HP:0000580Pigmentary retinopathy0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0000580HP:0000580Pigmentary retinopathy0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0000580HP:0000580Pigmentary retinopathy0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0000580HP:0000580Pigmentary retinopathy0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent4
HP:0000580HP:0000580Pigmentary retinopathy0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0000580HP:0000580Pigmentary retinopathy0MAK CL E G H41176816OMIM:614181Retinitis pigmentosa 6253
HP:0000580HP:0000580Pigmentary retinopathy0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0000580HP:0000580Pigmentary retinopathy0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000580HP:0000580Pigmentary retinopathy0MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 526
HP:0000580HP:0000580Pigmentary retinopathy0MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7120
HP:0000580HP:0000580Pigmentary retinopathy0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent69
HP:0000580HP:0000580Pigmentary retinopathy0MKKS CL E G H81957108OMIM:605231Bardet-Biedl syndrome 669
HP:0000580HP:0000580Pigmentary retinopathy0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent127
HP:0000580HP:0000580Pigmentary retinopathy0MKS1 CL E G H549037121OMIM:615990BARDET-BIEDL SYNDROME 13; BBS13127
HP:0000580HP:0000580Pigmentary retinopathy0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0000580HP:0000580Pigmentary retinopathy0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040282 - Frequent101
HP:0000580HP:0000580Pigmentary retinopathy0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0000580HP:0000580Pigmentary retinopathy0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0000580HP:0000580Pigmentary retinopathy0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040284 - Very rare
HP:0000580HP:0000580Pigmentary retinopathy0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0000580HP:0000580Pigmentary retinopathy0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0000580HP:0000580Pigmentary retinopathy0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0000580HP:0000580Pigmentary retinopathy0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0000580HP:0000580Pigmentary retinopathy0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0000580HP:0000580Pigmentary retinopathy0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0000580HP:0000580Pigmentary retinopathy0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0000580HP:0000580Pigmentary retinopathy0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0000580HP:0000580Pigmentary retinopathy0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0000580HP:0000580Pigmentary retinopathy0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0000580HP:0000580Pigmentary retinopathy0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0000580HP:0000580Pigmentary retinopathy0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0000580HP:0000580Pigmentary retinopathy0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0000580HP:0000580Pigmentary retinopathy0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0000580HP:0000580Pigmentary retinopathy0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000580HP:0000580Pigmentary retinopathy0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0000580HP:0000580Pigmentary retinopathy0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0000580HP:0000580Pigmentary retinopathy0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0000580HP:0000580Pigmentary retinopathy0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 7.3
HP:0000580HP:0000580Pigmentary retinopathy0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0000580HP:0000580Pigmentary retinopathy0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0000580HP:0000580Pigmentary retinopathy0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0000580HP:0000580Pigmentary retinopathy0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000580HP:0000580Pigmentary retinopathy0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0000580HP:0000580Pigmentary retinopathy0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0000580HP:0000580Pigmentary retinopathy0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0000580HP:0000580Pigmentary retinopathy0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000580HP:0000580Pigmentary retinopathy0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040284 - Very rare32
HP:0000580HP:0000580Pigmentary retinopathy0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0000580HP:0000580Pigmentary retinopathy0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000580HP:0000580Pigmentary retinopathy0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent85
HP:0000580HP:0000580Pigmentary retinopathy0NR2E3 CL E G H100027974OMIM:268100Enhanced S-cone syndrome.58
HP:0000580HP:0000580Pigmentary retinopathy0NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 37.58
HP:0000580HP:0000580Pigmentary retinopathy0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0000580HP:0000580Pigmentary retinopathy0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0000580HP:0000580Pigmentary retinopathy0PCARE CL E G H38893934383OMIM:613428Retinitis pigmentosa 54
HP:0000580HP:0000580Pigmentary retinopathy0PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0000580HP:0000580Pigmentary retinopathy0PDE6B CL E G H51588786OMIM:613801Retinitis pigmentosa 40126
HP:0000580HP:0000580Pigmentary retinopathy0PDE6G CL E G H51488789OMIM:613582Retinitis pigmentosa 5718
HP:0000580HP:0000580Pigmentary retinopathy0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0000580HP:0000580Pigmentary retinopathy0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0000580HP:0000580Pigmentary retinopathy0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0000580HP:0000580Pigmentary retinopathy0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0000580HP:0000580Pigmentary retinopathy0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0000580HP:0000580Pigmentary retinopathy0PISD CL E G H237618999OMIM:618889LIBERFARB SYNDROME; LIBF1
HP:0000580HP:0000580Pigmentary retinopathy0PNPLA6 CL E G H1090816268OMIM:245800Laurence-Moon syndrome.103
HP:0000580HP:0000580Pigmentary retinopathy0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0000580HP:0000580Pigmentary retinopathy0POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0000580HP:0000580Pigmentary retinopathy0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0000580HP:0000580Pigmentary retinopathy0POMGNT1 CL E G H5562419139OMIM:617123RETINITIS PIGMENTOSA 76; RP76180
HP:0000580HP:0000580Pigmentary retinopathy0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0000580HP:0000580Pigmentary retinopathy0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0000580HP:0000580Pigmentary retinopathy0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2HP:0040283 - Occasional221
HP:0000580HP:0000580Pigmentary retinopathy0PRCD CL E G H76820632528OMIM:610599Retinitis pigmentosa 3639
HP:0000580HP:0000580Pigmentary retinopathy0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0000580HP:0000580Pigmentary retinopathy0PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0000580HP:0000580Pigmentary retinopathy0PRPF31 CL E G H2612115446OMIM:600138Retinitis pigmentosa 1170
HP:0000580HP:0000580Pigmentary retinopathy0PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 1394
HP:0000580HP:0000580Pigmentary retinopathy0PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7159
HP:0000580HP:0000580Pigmentary retinopathy0PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescensHP:0040284 - Very rare159
HP:0000580HP:0000580Pigmentary retinopathy0RAX2 CL E G H8483918286OMIM:62010252
HP:0000580HP:0000580Pigmentary retinopathy0RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66108
HP:0000580HP:0000580Pigmentary retinopathy0RDH12 CL E G H14522619977OMIM:612712Leber congenital amaurosis 1345
HP:0000580HP:0000580Pigmentary retinopathy0RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescensHP:0040284 - Very rare32
HP:0000580HP:0000580Pigmentary retinopathy0RHO CL E G H601010012OMIM:610445Night blindness, congenital stationary, autosomal dominant 1107
HP:0000580HP:0000580Pigmentary retinopathy0RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4.107
HP:0000580HP:0000580Pigmentary retinopathy0RHO CL E G H601010012ORPHA:52427Retinitis punctata albescensHP:0040284 - Very rare107
HP:0000580HP:0000580Pigmentary retinopathy0RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040282 - Frequent47
HP:0000580HP:0000580Pigmentary retinopathy0RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescensHP:0040284 - Very rare47
HP:0000580HP:0000580Pigmentary retinopathy0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional3
HP:0000580HP:0000580Pigmentary retinopathy0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0000580HP:0000580Pigmentary retinopathy0ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 738
HP:0000580HP:0000580Pigmentary retinopathy0RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1111
HP:0000580HP:0000580Pigmentary retinopathy0RP1L1 CL E G H9413715946OMIM:618826RETINITIS PIGMENTOSA 88; RP88284
HP:0000580HP:0000580Pigmentary retinopathy0RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked.45
HP:0000580HP:0000580Pigmentary retinopathy0RP9 CL E G H610010288OMIM:180104Retinitis pigmentosa 914
HP:0000580HP:0000580Pigmentary retinopathy0RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II.129
HP:0000580HP:0000580Pigmentary retinopathy0RPE65 CL E G H612110294OMIM:618697RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87129
HP:0000580HP:0000580Pigmentary retinopathy0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0000580HP:0000580Pigmentary retinopathy0RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0000580HP:0000580Pigmentary retinopathy0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional125
HP:0000580HP:0000580Pigmentary retinopathy0RRM2B CL E G H5048417296OMIM:268315ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION125
HP:0000580HP:0000580Pigmentary retinopathy0SAG CL E G H629510521OMIM:613758RETINITIS PIGMENTOSA 47; RP4732
HP:0000580HP:0000580Pigmentary retinopathy0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0000580HP:0000580Pigmentary retinopathy0SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0000580HP:0000580Pigmentary retinopathy0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent61
HP:0000580HP:0000580Pigmentary retinopathy0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare304
HP:0000580HP:0000580Pigmentary retinopathy0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0000580HP:0000580Pigmentary retinopathy0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0000580HP:0000580Pigmentary retinopathy0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare16
HP:0000580HP:0000580Pigmentary retinopathy0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare237
HP:0000580HP:0000580Pigmentary retinopathy0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare129
HP:0000580HP:0000580Pigmentary retinopathy0SEMA4A CL E G H6421810729OMIM:610283Cone-Rod dystrophy 1048
HP:0000580HP:0000580Pigmentary retinopathy0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0000580HP:0000580Pigmentary retinopathy0SNRNP200 CL E G H2302030859OMIM:610359Retinitis pigmentosa 3383
HP:0000580HP:0000580Pigmentary retinopathy0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0000580HP:0000580Pigmentary retinopathy0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0000580HP:0000580Pigmentary retinopathy0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0000580HP:0000580Pigmentary retinopathy0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0000580HP:0000580Pigmentary retinopathy0TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophyHP:0040283 - Occasional95
HP:0000580HP:0000580Pigmentary retinopathy0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent108
HP:0000580HP:0000580Pigmentary retinopathy0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000580HP:0000580Pigmentary retinopathy0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0000580HP:0000580Pigmentary retinopathy0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0000580HP:0000580Pigmentary retinopathy0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0000580HP:0000580Pigmentary retinopathy0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0000580HP:0000580Pigmentary retinopathy0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0000580HP:0000580Pigmentary retinopathy0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0000580HP:0000580Pigmentary retinopathy0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0000580HP:0000580Pigmentary retinopathy0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent41
HP:0000580HP:0000580Pigmentary retinopathy0TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 5141
HP:0000580HP:0000580Pigmentary retinopathy0TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 15.66
HP:0000580HP:0000580Pigmentary retinopathy0TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0000580HP:0000580Pigmentary retinopathy0USH2A CL E G H739912601OMIM:613809Retinitis pigmentosa 39777
HP:0000580HP:0000580Pigmentary retinopathy0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0000580HP:0000580Pigmentary retinopathy0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent60
HP:0000580HP:0000580Pigmentary retinopathy0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0000580HP:0000580Pigmentary retinopathy0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189
HP:0000580HP:0000580Pigmentary retinopathy0ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 7214
HP:0000580HP:0000580Pigmentary retinopathy0ZNF513 CL E G H13055726498OMIM:613617Retinitis pigmentosa 5827
HP:0000580HP:0007737Bone spicule pigmentation of the retina1ABCA4 CL E G H2434OMIM:601718Retinitis pigmentosa 19.826
HP:0000580HP:0007737Bone spicule pigmentation of the retina1AGBL5 CL E G H6050926147OMIM:617023Retinitis pigmentosa 752
HP:0000580HP:0007737Bone spicule pigmentation of the retina1ARL3 CL E G H403694OMIM:618173RETINITIS PIGMENTOSA 83; RP831
HP:0000580HP:0007737Bone spicule pigmentation of the retina1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0000580HP:0007737Bone spicule pigmentation of the retina1ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0000580HP:0007737Bone spicule pigmentation of the retina1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0000580HP:0007737Bone spicule pigmentation of the retina1BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0000580HP:0007737Bone spicule pigmentation of the retina1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0000580HP:0007737Bone spicule pigmentation of the retina1CFAP418 CL E G H15765727232OMIM:614500Cone-Rod dystrophy 16
HP:0000580HP:0030505Nummular pigmentation of the fundus1CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0000580HP:0007737Bone spicule pigmentation of the retina1CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0000580HP:0007737Bone spicule pigmentation of the retina1CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0000580HP:0007737Bone spicule pigmentation of the retina1CLRN1 CL E G H740112605OMIM:614180Retinitis pigmentosa 6160
HP:0000580HP:0007737Bone spicule pigmentation of the retina1CNGA1 CL E G H12592148OMIM:613756RETINITIS PIGMENTOSA 49; RP4944
HP:0000580HP:0007737Bone spicule pigmentation of the retina1CNGB1 CL E G H12582151OMIM:613767Retinitis pigmentosa 45.164
HP:0000580HP:0007737Bone spicule pigmentation of the retina1CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0000580HP:0030505Nummular pigmentation of the fundus1CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0000580HP:0007737Bone spicule pigmentation of the retina1CRB1 CL E G H234182343OMIM:172870Pigmented paravenous chorioretinal atrophy.156
HP:0000580HP:0007737Bone spicule pigmentation of the retina1CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0000580HP:0007737Bone spicule pigmentation of the retina1CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0000580HP:0007737Bone spicule pigmentation of the retina1EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0000580HP:0007737Bone spicule pigmentation of the retina1FAM161A CL E G H8414025808OMIM:606068RETINITIS PIGMENTOSA 28; RP2856
HP:0000580HP:0007737Bone spicule pigmentation of the retina1FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0000580HP:0007737Bone spicule pigmentation of the retina1FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040282 - Frequent111
HP:0000580HP:0007737Bone spicule pigmentation of the retina1FSCN2 CL E G H257943960OMIM:607921RETINITIS PIGMENTOSA 30; RP3026
HP:0000580HP:0007737Bone spicule pigmentation of the retina1GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0000580HP:0007737Bone spicule pigmentation of the retina1HK1 CL E G H30984922OMIM:617460Retinitis pigmentosa 7911
HP:0000580HP:0007737Bone spicule pigmentation of the retina1IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0000580HP:0007737Bone spicule pigmentation of the retina1IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80148
HP:0000580HP:0007737Bone spicule pigmentation of the retina1IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 10.52
HP:0000580HP:0007737Bone spicule pigmentation of the retina1IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0000580HP:0030505Nummular pigmentation of the fundus1KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0000580HP:0007737Bone spicule pigmentation of the retina1KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0000580HP:0007737Bone spicule pigmentation of the retina1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent70
HP:0000580HP:0007737Bone spicule pigmentation of the retina1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent62
HP:0000580HP:0007737Bone spicule pigmentation of the retina1LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0000580HP:0007737Bone spicule pigmentation of the retina1MAK CL E G H41176816OMIM:614181Retinitis pigmentosa 6253
HP:0000580HP:0007737Bone spicule pigmentation of the retina1MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 5.26
HP:0000580HP:0007737Bone spicule pigmentation of the retina1MKS1 CL E G H549037121OMIM:615990BARDET-BIEDL SYNDROME 13; BBS13127
HP:0000580HP:0007737Bone spicule pigmentation of the retina1NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0000580HP:0007737Bone spicule pigmentation of the retina1PCARE CL E G H38893934383OMIM:613428Retinitis pigmentosa 54.
HP:0000580HP:0007737Bone spicule pigmentation of the retina1PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0000580HP:0007737Bone spicule pigmentation of the retina1PDE6B CL E G H51588786OMIM:613801Retinitis pigmentosa 40126
HP:0000580HP:0007737Bone spicule pigmentation of the retina1PDE6G CL E G H51488789OMIM:613582Retinitis pigmentosa 5718
HP:0000580HP:0007737Bone spicule pigmentation of the retina1PISD CL E G H237618999OMIM:618889LIBERFARB SYNDROME; LIBF1
HP:0000580HP:0007737Bone spicule pigmentation of the retina1POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0000580HP:0007737Bone spicule pigmentation of the retina1POMGNT1 CL E G H5562419139OMIM:617123RETINITIS PIGMENTOSA 76; RP76180
HP:0000580HP:0007737Bone spicule pigmentation of the retina1PRCD CL E G H76820632528OMIM:610599Retinitis pigmentosa 3639
HP:0000580HP:0007737Bone spicule pigmentation of the retina1PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0000580HP:0007737Bone spicule pigmentation of the retina1PRPF31 CL E G H2612115446OMIM:600138Retinitis pigmentosa 1170
HP:0000580HP:0007737Bone spicule pigmentation of the retina1PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 1394
HP:0000580HP:0007737Bone spicule pigmentation of the retina1RAX2 CL E G H8483918286OMIM:62010252
HP:0000580HP:0007737Bone spicule pigmentation of the retina1RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66108
HP:0000580HP:0007737Bone spicule pigmentation of the retina1RDH12 CL E G H14522619977OMIM:612712Leber congenital amaurosis 1345
HP:0000580HP:0007737Bone spicule pigmentation of the retina1RHO CL E G H601010012OMIM:610445Night blindness, congenital stationary, autosomal dominant 1.107
HP:0000580HP:0007737Bone spicule pigmentation of the retina1RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4107
HP:0000580HP:0007737Bone spicule pigmentation of the retina1RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1.111
HP:0000580HP:0007737Bone spicule pigmentation of the retina1RP1L1 CL E G H9413715946OMIM:618826RETINITIS PIGMENTOSA 88; RP88284
HP:0000580HP:0007737Bone spicule pigmentation of the retina1RP9 CL E G H610010288OMIM:180104Retinitis pigmentosa 9.14
HP:0000580HP:0007737Bone spicule pigmentation of the retina1RPE65 CL E G H612110294OMIM:618697RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87129
HP:0000580HP:0030505Nummular pigmentation of the fundus1RPE65 CL E G H612110294OMIM:618697RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87129
HP:0000580HP:0007737Bone spicule pigmentation of the retina1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent129
HP:0000580HP:0007737Bone spicule pigmentation of the retina1RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0000580HP:0007737Bone spicule pigmentation of the retina1RRM2B CL E G H5048417296OMIM:268315ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION125
HP:0000580HP:0007737Bone spicule pigmentation of the retina1SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0000580HP:0007737Bone spicule pigmentation of the retina1SEMA4A CL E G H6421810729OMIM:610283Cone-Rod dystrophy 1048
HP:0000580HP:0007737Bone spicule pigmentation of the retina1SNRNP200 CL E G H2302030859OMIM:610359Retinitis pigmentosa 3383
HP:0000580HP:0007737Bone spicule pigmentation of the retina1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent48
HP:0000580HP:0007737Bone spicule pigmentation of the retina1TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 51.41
HP:0000580HP:0007737Bone spicule pigmentation of the retina1TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0000580HP:0007737Bone spicule pigmentation of the retina1USH2A CL E G H739912601OMIM:613809Retinitis pigmentosa 39.777
HP:0000580HP:0007737Bone spicule pigmentation of the retina1VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0000580HP:0007737Bone spicule pigmentation of the retina1ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 7214
HP:0000580HP:0007737Bone spicule pigmentation of the retina1ZNF513 CL E G H13055726498OMIM:613617Retinitis pigmentosa 58.27


Genes (198) :ABCA4 ACOX1 AGBL5 AHI1 AIRE ALMS1 AMACR ARL13B ARL3 ARL6 ARSG ATP6 ATXN7 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 CAV1 CCDC28B CEP19 CEP290 CFAP418 CHM CLCC1 CLN3 CLRN1 CNGA1 CNGB1 CNNM4 COA8 COX1 COX15 COX2 COX3 COX7B COX8A CRB1 CRX CTNS CYP4V2 ECHS1 ERCC3 ERCC4 ERCC6 ERCC8 EYS FAM161A FKRP FLVCR1 FOXRED1 FSCN2 GMPPB GSS GUCY2D HADH HADHA HADHB HCCS HK1 HKDC1 IDH3A IDH3B IFT140 IFT172 IFT27 IFT74 IMPDH1 IMPG2 ISCA1 JAG1 KIAA1549 KIZ LARGE1 LCA5 LIPT1 LRAT LZTFL1 MAK MECR MED12 MFRP MFSD8 MKKS MKS1 MMACHC MORC2 MSTO1 MTFMT NCAPG2 ND1 ND2 ND3 ND4 ND5 ND6 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFB11 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NGLY1 NMNAT1 NOTCH2NLC NPHP1 NR2E3 PANK2 PCARE PDE6A PDE6B PDE6G PDHA1 PET100 PEX1 PEX2 PEX5 PISD PNPLA6 POC1B POLR3A POMGNT1 POMT1 POMT2 PRCD PRDX1 PROM1 PRPF31 PRPF8 PRPH2 RAX2 RBP3 RDH12 RDH5 RHO RLBP1 RNASEH1 RNU4ATAC ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RRM2B SAG SCAPER SDCCAG8 SDHA SDHAF1 SDHB SDHD SEMA4A SLC19A3 SNRNP200 SPATA7 SURF1 TACO1 TIMP3 TRIM32 TRIM37 TRNF TRNH TRNK TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNV TRNW TTC8 TULP1 USH2A VPS13B WDPCP WFS1 ZFYVE26 ZNF408 ZNF513

Diseases (147) :OMIM:604116 OMIM:601718 OMIM:264470 OMIM:617023 OMIM:608629 OMIM:240300 OMIM:203800 OMIM:614307 ORPHA:79095 OMIM:612291 OMIM:618173 ORPHA:110 OMIM:209900 OMIM:600151 OMIM:618144 ORPHA:255210 OMIM:164500 OMIM:616562 OMIM:615986 OMIM:193220 OMIM:606721 OMIM:614500 OMIM:303100 OMIM:609913 ORPHA:228346 OMIM:614180 OMIM:613756 OMIM:613767 OMIM:217080 ORPHA:436271 ORPHA:550 ORPHA:255241 OMIM:309801 OMIM:619059 OMIM:613835 OMIM:172870 OMIM:600105 OMIM:120970 OMIM:219800 ORPHA:411629 ORPHA:41751 OMIM:610651 ORPHA:90321 OMIM:133540 OMIM:216400 OMIM:602772 OMIM:606068 ORPHA:370968 OMIM:609033 ORPHA:88628 OMIM:607921 OMIM:266130 OMIM:215500 OMIM:601777 OMIM:204000 ORPHA:71212 OMIM:609016 OMIM:609015 ORPHA:746 OMIM:617460 OMIM:619614 OMIM:619007 OMIM:612572 OMIM:617781 OMIM:180105 OMIM:613581 OMIM:617613 OMIM:118450 OMIM:618613 OMIM:615780 ORPHA:364055 OMIM:615994 OMIM:614181 OMIM:617282 OMIM:301068 OMIM:611040 OMIM:610951 OMIM:605231 OMIM:615990 OMIM:617121 ORPHA:79282 OMIM:277400 OMIM:619090 ORPHA:502423 OMIM:617675 OMIM:618460 ORPHA:404454 OMIM:608553 OMIM:619473 OMIM:268100 OMIM:611131 ORPHA:216866 OMIM:234200 OMIM:613428 OMIM:613810 OMIM:613801 OMIM:613582 OMIM:214100 OMIM:614866 OMIM:214110 OMIM:618889 OMIM:245800 OMIM:275400 OMIM:615973 ORPHA:3455 OMIM:617123 OMIM:613156 OMIM:610599 OMIM:612095 OMIM:600138 OMIM:600059 OMIM:608133 ORPHA:52427 OMIM:620102 OMIM:615233 OMIM:612712 OMIM:610445 OMIM:613731 ORPHA:85128 ORPHA:329336 OMIM:226960 OMIM:180100 OMIM:618826 OMIM:312600 OMIM:180104 OMIM:204100 OMIM:618697 OMIM:300029 OMIM:268315 OMIM:613758 OMIM:618195 ORPHA:3208 OMIM:252011 OMIM:610283 OMIM:610359 OMIM:220110 ORPHA:59181 OMIM:253250 OMIM:613464 OMIM:613843 OMIM:600132 OMIM:613809 OMIM:216550 OMIM:222300 ORPHA:100996 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.