Human Phenotype Ontology 
Grandparent Node:
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Abnormality of vision (HP:0000504)help
Parent Node:
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Visual impairment (HP:0000505)help
..Starting node
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Blindness (HP:0000618)help
Term ID: 618
Name: Blindness
Synonym: Blindness; Legal blindness; Total vision loss
Definition: Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
Comments:
Reference: HP:0000618
Genes and Diseases:
 
       Child Nodes:
........expandCongenital blindness (HP:0007875) help

 Sister Nodes: 
..expandCerebral visual impairment (HP:0100704) help
..expandModerately reduced visual acuity (HP:0030515) help
..expandobsolete Congenital visual impairment (HP:0007758) help
..expandSeverely reduced visual acuity (HP:0001141) 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:0000618HP:0000618Blindness0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0000618HP:0000618Blindness0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0000618HP:0000618Blindness0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040284 - Very rare135
HP:0000618HP:0000618Blindness0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndromeHP:0040282 - Frequent72
HP:0000618HP:0000618Blindness0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 1.63
HP:0000618HP:0000618Blindness0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000618HP:0000618Blindness0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0000618HP:0000618Blindness0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000618HP:0000618Blindness0AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040283 - Occasional95
HP:0000618HP:0000618Blindness0AIPL1 CL E G H23746359OMIM:604393Leber congenital amaurosis 4.114
HP:0000618HP:0000618Blindness0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040284 - Very rare54
HP:0000618HP:0000618Blindness0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040281 - Very frequent404
HP:0000618HP:0000618Blindness0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000618HP:0000618Blindness0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0000618HP:0000618Blindness0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000618HP:0000618Blindness0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000618HP:0000618Blindness0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0000618HP:0000618Blindness0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome.
HP:0000618HP:0000618Blindness0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0000618HP:0000618Blindness0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040283 - Occasional48
HP:0000618HP:0000618Blindness0ATIC CL E G H471794ORPHA:250977AICA-ribosiduria4
HP:0000618HP:0000618Blindness0ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency4
HP:0000618HP:0000618Blindness0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000618HP:0000618Blindness0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.150
HP:0000618HP:0000618Blindness0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0000618HP:0000618Blindness0ATP6 CL E G H45087414OMIM:551500Neuropathy, ataxia, and retinitis pigmentosa.
HP:0000618HP:0000618Blindness0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0000618HP:0000618Blindness0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040283 - Occasional8
HP:0000618HP:0000618Blindness0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11.43
HP:0000618HP:0000618Blindness0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13.17
HP:0000618HP:0000618Blindness0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040284 - Very rare184
HP:0000618HP:0000618Blindness0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0000618HP:0000618Blindness0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0000618HP:0000618Blindness0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000618HP:0000618Blindness0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0000618HP:0000618Blindness0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0000618HP:0000618Blindness0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000618HP:0000618Blindness0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0000618HP:0000618Blindness0C1QTNF5 CL E G H11490214344OMIM:605670Late-Onset retinal degeneration.20
HP:0000618HP:0000618Blindness0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000618HP:0000618Blindness0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0000618HP:0000618Blindness0CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory6
HP:0000618HP:0000618Blindness0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent247
HP:0000618HP:0000618Blindness0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000618HP:0000618Blindness0CD109 CL E G H13522821685ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare
HP:0000618HP:0000618Blindness0CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040283 - Occasional636
HP:0000618HP:0000618Blindness0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040283 - Occasional636
HP:0000618HP:0000618Blindness0CDH3 CL E G H10011762ORPHA:1573Hypotrichosis with juvenile macular degenerationHP:0040281 - Very frequent87
HP:0000618HP:0000618Blindness0CDH3 CL E G H10011762OMIM:601553Hypotrichosis, congenital, with juvenile macular dystrophy87
HP:0000618HP:0000618Blindness0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0000618HP:0000618Blindness0CEP164 CL E G H2289729182OMIM:614845Nephronophthisis 15HP:0040283 - Occasional34
HP:0000618HP:0000618Blindness0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0000618HP:0000618Blindness0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent342
HP:0000618HP:0000618Blindness0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0000618HP:0000618Blindness0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0000618HP:0000618Blindness0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000618HP:0000618Blindness0CLCN7 CL E G H11862025ORPHA:53Albers-Schönberg osteopetrosisHP:0040283 - Occasional102
HP:0000618HP:0000618Blindness0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0000618HP:0000618Blindness0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0000618HP:0000618Blindness0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0000618HP:0000618Blindness0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0000618HP:0000618Blindness0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0000618HP:0000618Blindness0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0000618HP:0000618Blindness0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0000618HP:0000618Blindness0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0000618HP:0000618Blindness0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000618HP:0000618Blindness0CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2.158
HP:0000618HP:0000618Blindness0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0000618HP:0000618Blindness0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0000618HP:0000618Blindness0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0000618HP:0000618Blindness0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0000618HP:0000618Blindness0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040283 - Occasional126
HP:0000618HP:0000618Blindness0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000618HP:0000618Blindness0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0000618HP:0000618Blindness0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000618HP:0000618Blindness0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matterHP:0040283 - Occasional42
HP:0000618HP:0000618Blindness0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matterHP:0040283 - Occasional24
HP:0000618HP:0000618Blindness0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matterHP:0040283 - Occasional32
HP:0000618HP:0000618Blindness0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matterHP:0040283 - Occasional38
HP:0000618HP:0000618Blindness0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matterHP:0040283 - Occasional48
HP:0000618HP:0000618Blindness0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000618HP:0000618Blindness0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0000618HP:0000618Blindness0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0000618HP:0000618Blindness0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0000618HP:0000618Blindness0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0000618HP:0000618Blindness0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant.1361
HP:0000618HP:0000618Blindness0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040283 - Occasional
HP:0000618HP:0000618Blindness0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare157
HP:0000618HP:0000618Blindness0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0000618HP:0000618Blindness0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0000618HP:0000618Blindness0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa.HP:0003581 - Adult onset111
HP:0000618HP:0000618Blindness0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional61
HP:0000618HP:0000618Blindness0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040281 - Very frequent353
HP:0000618HP:0000618Blindness0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000618HP:0000618Blindness0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040281 - Very frequent263
HP:0000618HP:0000618Blindness0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0000618HP:0000618Blindness0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1.109
HP:0000618HP:0000618Blindness0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0000618HP:0000618Blindness0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000618HP:0000618Blindness0FZD4 CL E G H83224042ORPHA:90050Retinopathy of prematurityHP:0040283 - Occasional109
HP:0000618HP:0000618Blindness0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0000618HP:0000618Blindness0GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0000618HP:0000618Blindness0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0000618HP:0000618Blindness0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare29
HP:0000618HP:0000618Blindness0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0000618HP:0000618Blindness0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040281 - Very frequent120
HP:0000618HP:0000618Blindness0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0000618HP:0000618Blindness0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare34
HP:0000618HP:0000618Blindness0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0000618HP:0000618Blindness0GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic.101
HP:0000618HP:0000618Blindness0GNAT1 CL E G H27794393OMIM:610444Night blindness, congenital stationary, autosomal dominant 3.39
HP:0000618HP:0000618Blindness0GP1BA CL E G H28114439ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare23
HP:0000618HP:0000618Blindness0GP1BB CL E G H28124440ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare8
HP:0000618HP:0000618Blindness0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040281 - Very frequent80
HP:0000618HP:0000618Blindness0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0000618HP:0000618Blindness0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0000618HP:0000618Blindness0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0000618HP:0000618Blindness0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0000618HP:0000618Blindness0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0000618HP:0000618Blindness0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0000618HP:0000618Blindness0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0000618HP:0000618Blindness0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0000618HP:0000618Blindness0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040282 - Frequent19
HP:0000618HP:0000618Blindness0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000618HP:0000618Blindness0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000618HP:0000618Blindness0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0000618HP:0000618Blindness0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0000618HP:0000618Blindness0IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80.148
HP:0000618HP:0000618Blindness0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000618HP:0000618Blindness0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000618HP:0000618Blindness0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0000618HP:0000618Blindness0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000618HP:0000618Blindness0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000618HP:0000618Blindness0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000618HP:0000618Blindness0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0000618HP:0000618Blindness0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000618HP:0000618Blindness0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0000618HP:0000618Blindness0ITGA2 CL E G H36736137ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare119
HP:0000618HP:0000618Blindness0ITGA2B CL E G H36746138ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare69
HP:0000618HP:0000618Blindness0ITGB3 CL E G H36906156ORPHA:853Fetal and neonatal alloimmune thrombocytopeniaHP:0040284 - Very rare80
HP:0000618HP:0000618Blindness0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000618HP:0000618Blindness0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000618HP:0000618Blindness0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive.9
HP:0000618HP:0000618Blindness0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000618HP:0000618Blindness0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0000618HP:0000618Blindness0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000618HP:0000618Blindness0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome.92
HP:0000618HP:0000618Blindness0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0000618HP:0000618Blindness0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0000618HP:0000618Blindness0LRAT CL E G H92276685OMIM:613341Leber congenital amaurosis 1462
HP:0000618HP:0000618Blindness0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0000618HP:0000618Blindness0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1.125
HP:0000618HP:0000618Blindness0LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4.125
HP:0000618HP:0000618Blindness0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional125
HP:0000618HP:0000618Blindness0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndrome125
HP:0000618HP:0000618Blindness0LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome.125
HP:0000618HP:0000618Blindness0LRP5 CL E G H40416697ORPHA:90050Retinopathy of prematurityHP:0040283 - Occasional125
HP:0000618HP:0000618Blindness0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0000618HP:0000618Blindness0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0000618HP:0000618Blindness0MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040283 - Occasional462
HP:0000618HP:0000618Blindness0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0000618HP:0000618Blindness0MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7.120
HP:0000618HP:0000618Blindness0MTR CL E G H45487468OMIM:250940Homocystinuria-megaloblastic anemia, cblg Complementation typeHP:0040283 - Occasional217
HP:0000618HP:0000618Blindness0MTRR CL E G H45527473OMIM:236270Homocystinuria-megaloblastic anemia, cbl E typeHP:0040283 - Occasional88
HP:0000618HP:0000618Blindness0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040284 - Very rare81
HP:0000618HP:0000618Blindness0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000618HP:0000618Blindness0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional
HP:0000618HP:0000618Blindness0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional
HP:0000618HP:0000618Blindness0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional
HP:0000618HP:0000618Blindness0NDE1 CL E G H5482017619ORPHA:2177HydranencephalyHP:0040281 - Very frequent96
HP:0000618HP:0000618Blindness0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0000618HP:0000618Blindness0NDP CL E G H46937678OMIM:310600Norrie disease.HP:0003593 - Infantile onset39
HP:0000618HP:0000618Blindness0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040281 - Very frequent39
HP:0000618HP:0000618Blindness0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000618HP:0000618Blindness0NDP CL E G H46937678ORPHA:90050Retinopathy of prematurityHP:0040283 - Occasional39
HP:0000618HP:0000618Blindness0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional7
HP:0000618HP:0000618Blindness0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional32
HP:0000618HP:0000618Blindness0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional1
HP:0000618HP:0000618Blindness0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional40
HP:0000618HP:0000618Blindness0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional26
HP:0000618HP:0000618Blindness0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional31
HP:0000618HP:0000618Blindness0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional50
HP:0000618HP:0000618Blindness0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional34
HP:0000618HP:0000618Blindness0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional
HP:0000618HP:0000618Blindness0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional
HP:0000618HP:0000618Blindness0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional3
HP:0000618HP:0000618Blindness0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0000618HP:0000618Blindness0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional9
HP:0000618HP:0000618Blindness0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional16
HP:0000618HP:0000618Blindness0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional81
HP:0000618HP:0000618Blindness0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional65
HP:0000618HP:0000618Blindness0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional22
HP:0000618HP:0000618Blindness0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional27
HP:0000618HP:0000618Blindness0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0000618HP:0000618Blindness0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional21
HP:0000618HP:0000618Blindness0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional38
HP:0000618HP:0000618Blindness0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional42
HP:0000618HP:0000618Blindness0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional74
HP:0000618HP:0000618Blindness0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 474
HP:0000618HP:0000618Blindness0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional27
HP:0000618HP:0000618Blindness0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000618HP:0000618Blindness0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0000618HP:0000618Blindness0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040284 - Very rare220
HP:0000618HP:0000618Blindness0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0000618HP:0000618Blindness0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040283 - Occasional217
HP:0000618HP:0000618Blindness0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent58
HP:0000618HP:0000618Blindness0NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000618HP:0000618Blindness0NRL CL E G H49018002OMIM:613750Retinitis pigmentosa 27.30
HP:0000618HP:0000618Blindness0NSMCE2 CL E G H28605326513ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndrome2
HP:0000618HP:0000618Blindness0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional89
HP:0000618HP:0000618Blindness0OAT CL E G H49428091ORPHA:414Gyrate atrophy of choroid and retinaHP:0040282 - Frequent94
HP:0000618HP:0000618Blindness0OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency.94
HP:0000618HP:0000618Blindness0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent201
HP:0000618HP:0000618Blindness0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0000618HP:0000618Blindness0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0000618HP:0000618Blindness0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040284 - Very rare55
HP:0000618HP:0000618Blindness0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040284 - Very rare55
HP:0000618HP:0000618Blindness0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000618HP:0000618Blindness0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent116
HP:0000618HP:0000618Blindness0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent126
HP:0000618HP:0000618Blindness0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent18
HP:0000618HP:0000618Blindness0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040284 - Very rare9
HP:0000618HP:0000618Blindness0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0000618HP:0000618Blindness0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0000618HP:0000618Blindness0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040284 - Very rare21
HP:0000618HP:0000618Blindness0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040284 - Very rare162
HP:0000618HP:0000618Blindness0PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome.12
HP:0000618HP:0000618Blindness0PITX3 CL E G H53099006OMIM:610623Cataract 11, multiple types.6
HP:0000618HP:0000618Blindness0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0000618HP:0000618Blindness0PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included.11
HP:0000618HP:0000618Blindness0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0000618HP:0000618Blindness0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0000618HP:0000618Blindness0POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040283 - Occasional464
HP:0000618HP:0000618Blindness0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare180
HP:0000618HP:0000618Blindness0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent180
HP:0000618HP:0000618Blindness0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare18
HP:0000618HP:0000618Blindness0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare213
HP:0000618HP:0000618Blindness0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0000618HP:0000618Blindness0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare221
HP:0000618HP:0000618Blindness0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0000618HP:0000618Blindness0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.HP:0011463 - Childhood onset172
HP:0000618HP:0000618Blindness0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0000618HP:0000618Blindness0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent39
HP:0000618HP:0000618Blindness0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent110
HP:0000618HP:0000618Blindness0PROS1 CL E G H56279456OMIM:614514Thrombophilia due to protein S deficiency, autosomal recessive.75
HP:0000618HP:0000618Blindness0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000618HP:0000618Blindness0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent70
HP:0000618HP:0000618Blindness0PRPF31 CL E G H2612115446OMIM:600138Retinitis pigmentosa 11.70
HP:0000618HP:0000618Blindness0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000618HP:0000618Blindness0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent51
HP:0000618HP:0000618Blindness0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent94
HP:0000618HP:0000618Blindness0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent159
HP:0000618HP:0000618Blindness0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophyHP:0040281 - Very frequent49
HP:0000618HP:0000618Blindness0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0000618HP:0000618Blindness0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent108
HP:0000618HP:0000618Blindness0RD3 CL E G H34303519689OMIM:610612Leber congenital amaurosis 1295
HP:0000618HP:0000618Blindness0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000618HP:0000618Blindness0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000618HP:0000618Blindness0RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000618HP:0000618Blindness0RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent107
HP:0000618HP:0000618Blindness0RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4.107
HP:0000618HP:0000618Blindness0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000618HP:0000618Blindness0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent38
HP:0000618HP:0000618Blindness0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent111
HP:0000618HP:0000618Blindness0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent284
HP:0000618HP:0000618Blindness0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000618HP:0000618Blindness0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000618HP:0000618Blindness0RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II.129
HP:0000618HP:0000618Blindness0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent129
HP:0000618HP:0000618Blindness0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent200
HP:0000618HP:0000618Blindness0SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent32
HP:0000618HP:0000618Blindness0SARDH CL E G H175710536ORPHA:3129Sarcosinemia4
HP:0000618HP:0000618Blindness0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000618HP:0000618Blindness0SCN1A CL E G H632310585OMIM:609634Migraine, familial hemiplegic, 3.1053
HP:0000618HP:0000618Blindness0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare304
HP:0000618HP:0000618Blindness0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare16
HP:0000618HP:0000618Blindness0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare237
HP:0000618HP:0000618Blindness0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare129
HP:0000618HP:0000618Blindness0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000618HP:0000618Blindness0SEMA4A CL E G H6421810729OMIM:610282Retinitis pigmentosa 35.48
HP:0000618HP:0000618Blindness0SLC24A1 CL E G H918710975OMIM:613830Night blindness, congenital stationary, type 1D.66
HP:0000618HP:0000618Blindness0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000618HP:0000618Blindness0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040284 - Very rare87
HP:0000618HP:0000618Blindness0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040284 - Very rare47
HP:0000618HP:0000618Blindness0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040282 - Frequent174
HP:0000618HP:0000618Blindness0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040284 - Very rare22
HP:0000618HP:0000618Blindness0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent83
HP:0000618HP:0000618Blindness0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000618HP:0000618Blindness0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary.1
HP:0000618HP:0000618Blindness0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0000618HP:0000618Blindness0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040284 - Very rare124
HP:0000618HP:0000618Blindness0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome.271
HP:0000618HP:0000618Blindness0TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 1.82
HP:0000618HP:0000618Blindness0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040284 - Very rare238
HP:0000618HP:0000618Blindness0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional1
HP:0000618HP:0000618Blindness0TIMP3 CL E G H707811822OMIM:136900Sorsby fundus dystrophy.95
HP:0000618HP:0000618Blindness0TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophyHP:0040283 - Occasional95
HP:0000618HP:0000618Blindness0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0000618HP:0000618Blindness0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional4
HP:0000618HP:0000618Blindness0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent39
HP:0000618HP:0000618Blindness0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent45
HP:0000618HP:0000618Blindness0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent33
HP:0000618HP:0000618Blindness0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent82
HP:0000618HP:0000618Blindness0TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6.166
HP:0000618HP:0000618Blindness0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44
HP:0000618HP:0000618Blindness0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent61
HP:0000618HP:0000618Blindness0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040284 - Very rare
HP:0000618HP:0000618Blindness0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0000618HP:0000618Blindness0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent41
HP:0000618HP:0000618Blindness0TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000618HP:0000618Blindness0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent66
HP:0000618HP:0000618Blindness0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000618HP:0000618Blindness0UFM1 CL E G H5156920597OMIM:617899Leukodystrophy, hypomyelinating, 14HP:0040284 - Very rare
HP:0000618HP:0000618Blindness0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040284 - Very rare31
HP:0000618HP:0000618Blindness0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare41
HP:0000618HP:0000618Blindness0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent777
HP:0000618HP:0000618Blindness0WHRN CL E G H2586116361OMIM:611383Usher syndrome, type IID.155
HP:0000618HP:0000618Blindness0XRCC4 CL E G H751812831ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndrome9
HP:0000618HP:0000618Blindness0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional14
HP:0000618HP:0000618Blindness0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000618HP:0000618Blindness0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent49
HP:0000618HP:0000618Blindness0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent27
HP:0000618HP:0007875Congenital blindness1ATIC CL E G H471794ORPHA:250977AICA-ribosiduriaHP:0040281 - Very frequent4
HP:0000618HP:0007875Congenital blindness1ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency.4
HP:0000618HP:0007875Congenital blindness1CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0000618HP:0007875Congenital blindness1LRAT CL E G H92276685OMIM:613341Leber congenital amaurosis 14.62
HP:0000618HP:0007875Congenital blindness1LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040282 - Frequent125
HP:0000618HP:0007875Congenital blindness1NSMCE2 CL E G H28605326513ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040283 - Occasional2
HP:0000618HP:0007875Congenital blindness1RD3 CL E G H34303519689OMIM:610612Leber congenital amaurosis 12.HP:0003577 - Congenital onset95
HP:0000618HP:0007875Congenital blindness1SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0000618HP:0007875Congenital blindness1XRCC4 CL E G H751812831ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040283 - Occasional9


Genes (276) :ABCA4 ABCD1 ACTB ADAMTS10 AGBL5 AHI1 AHR AIP AIPL1 AKT1 ALMS1 ARHGEF18 ARL2BP ARL3 ARL6 ARNT2 ASPA ATIC ATOH7 ATP1A3 ATP6 ATRX ATXN7 B3GALNT2 B4GAT1 BAP1 BBS1 BBS2 BCOR BEST1 BMP4 BTNL2 C1QTNF5 C4A CA4 CAPN5 CC2D2A CCR1 CD109 CDH23 CDH3 CDHR1 CEP164 CEP290 CERKL CFAP418 CLCN7 CLN3 CLRN1 CNGA1 CNGB1 COL2A1 COX7B CRB1 CREBBP CRX CTC1 CTNNB1 CTNS CYP4V2 DHDDS DHX37 DHX38 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ERAP1 ERCC4 EYS FAM161A FAS FBN1 FDXR FKRP FKTN FLVCR1 FOXRED1 FRAS1 FREM2 FSCN2 FZD4 GALC GATA1 GJB2 GLB1 GM2A GMPPB GNAQ GNAS GNAT1 GP1BA GP1BB GRIP1 GUCA1B GUCY2D HCCS HEXB HGSNAT HLA-B HLA-DRB1 HPS1 HSD17B10 IDH3A IDH3B IFNGR1 IFT140 IFT172 IFT88 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG1 IMPG2 ITGA2 ITGA2B ITGB3 KIAA1549 KIF11 KIF14 KIZ KLHL7 KLRC4 LAMB2 LARGE1 LONP1 LRAT LRP5 MAK MEFV MEN1 MERTK MFSD8 MTR MTRR MTTP NAA10 ND1 ND2 ND3 NDE1 NDP NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK2 NF1 NF2 NLRP3 NR2E3 NRL NSMCE2 NUBPL OAT OFD1 OPA1 OPA3 PANK2 PCARE PDE6A PDE6B PDE6G PDGFB PDHA1 PEX6 PGK1 PIK3CA PIK3R2 PITX3 PLA2G6 PLG PLOD1 POGZ POLG POMGNT1 POMK POMT1 POMT2 PPT1 PQBP1 PRCD PROM1 PROS1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PSAP RBP3 RD3 RDH12 REEP6 RGR RHO RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR SAG SARDH SCAPER SCN1A SDHA SDHAF1 SDHB SDHD SEMA4A SLC24A1 SLC7A14 SMARCB1 SMARCE1 SMCHD1 SMO SNRNP200 SPATA7 SREBF1 STAT4 SUFU TBC1D24 TCIRG1 TERT TIMMDC1 TIMP3 TLR4 TMEM126B TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TNFSF11 TOPORS TRAF7 TSPAN12 TTC8 TUB TULP1 UBAC2 UFM1 UROD UROS USH2A WHRN XRCC4 ZNF408 ZNF423 ZNF513

Diseases (138) :ORPHA:791 OMIM:300100 ORPHA:139396 ORPHA:79107 OMIM:277600 ORPHA:2965 OMIM:604393 ORPHA:2495 ORPHA:64 OMIM:203800 OMIM:615926 OMIM:271900 ORPHA:314911 ORPHA:250977 OMIM:608688 ORPHA:91495 OMIM:601338 ORPHA:644 OMIM:551500 ORPHA:847 ORPHA:94147 OMIM:615181 OMIM:615287 OMIM:309800 OMIM:193220 OMIM:607932 ORPHA:797 OMIM:605670 ORPHA:117 OMIM:193235 ORPHA:2318 ORPHA:853 ORPHA:91347 ORPHA:1573 OMIM:601553 OMIM:614845 OMIM:610188 OMIM:617406 ORPHA:53 OMIM:204200 ORPHA:228346 OMIM:108300 ORPHA:2556 OMIM:618332 OMIM:120970 OMIM:612199 ORPHA:891 OMIM:219800 ORPHA:41751 OMIM:618731 OMIM:603896 OMIM:610965 OMIM:608328 ORPHA:543470 ORPHA:370959 OMIM:236670 OMIM:609033 ORPHA:2609 ORPHA:2052 OMIM:219000 OMIM:133780 ORPHA:90050 ORPHA:206436 OMIM:245200 ORPHA:206443 ORPHA:79277 OMIM:148210 ORPHA:79255 OMIM:272750 ORPHA:3205 OMIM:174800 OMIM:610444 OMIM:204000 OMIM:268800 OMIM:203300 ORPHA:391428 OMIM:617781 ORPHA:2526 OMIM:617914 OMIM:609049 ORPHA:79243 OMIM:613341 OMIM:601813 ORPHA:2788 OMIM:259770 OMIM:610951 OMIM:250940 OMIM:236270 ORPHA:14 ORPHA:2177 OMIM:310600 ORPHA:649 OMIM:252010 OMIM:618225 ORPHA:97685 ORPHA:637 ORPHA:1451 OMIM:613750 ORPHA:436182 ORPHA:414 OMIM:258870 OMIM:210000 ORPHA:67036 ORPHA:216873 ORPHA:216866 ORPHA:95433 ORPHA:713 OMIM:603387 OMIM:610623 ORPHA:35069 OMIM:217090 OMIM:225400 ORPHA:468678 ORPHA:726 OMIM:256730 OMIM:309500 OMIM:614514 OMIM:600138 ORPHA:1187 OMIM:610612 OMIM:613731 OMIM:204100 ORPHA:3129 OMIM:609634 ORPHA:3208 OMIM:610282 OMIM:613830 ORPHA:2250 OMIM:158310 OMIM:220500 OMIM:259700 OMIM:136900 ORPHA:59181 OMIM:610688 OMIM:259710 OMIM:617899 ORPHA:95159 OMIM:611383
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.