Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of vision (HP:0000504)help
Parent Node:
expand
Visual impairment (HP:0000505)help
..Starting node
..expand
Severely reduced visual acuity (HP:0001141)help
Term ID: 1141
Name: Severely reduced visual acuity
Synonym: Marked vision impairment; Severe reduction in visual acuity; Severe vision loss; Severe visual impairment; Severe visual loss; Severely impaired vision
Definition: Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).
Comments:
Reference: HP:0001141
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBlindness (HP:0000618) help
..expandCerebral visual impairment (HP:0100704) help
..expandModerately reduced visual acuity (HP:0030515) help
..expandobsolete Congenital visual impairment (HP:0007758) 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:0001141HP:0001141Severely reduced visual acuity0AIPL1 CL E G H23746359ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent114
HP:0001141HP:0001141Severely reduced visual acuity0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0001141HP:0001141Severely reduced visual acuity0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040282 - Frequent20
HP:0001141HP:0001141Severely reduced visual acuity0CACNA1F CL E G H7781393OMIM:300600Aland island eye disease.58
HP:0001141HP:0001141Severely reduced visual acuity0CEP290 CL E G H8018429021ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent342
HP:0001141HP:0001141Severely reduced visual acuity0CHST6 CL E G H41666938ORPHA:98969Macular corneal dystrophyHP:0040282 - Frequent129
HP:0001141HP:0001141Severely reduced visual acuity0CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3.194
HP:0001141HP:0001141Severely reduced visual acuity0CRB1 CL E G H234182343ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent156
HP:0001141HP:0001141Severely reduced visual acuity0CRX CL E G H14062383ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent158
HP:0001141HP:0001141Severely reduced visual acuity0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0001141HP:0001141Severely reduced visual acuity0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040283 - Occasional126
HP:0001141HP:0001141Severely reduced visual acuity0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0001141HP:0001141Severely reduced visual acuity0GDF6 CL E G H3922554221ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent64
HP:0001141HP:0001141Severely reduced visual acuity0GUCY2D CL E G H30004689ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent124
HP:0001141HP:0001141Severely reduced visual acuity0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0001141HP:0001141Severely reduced visual acuity0IFT140 CL E G H974229077ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent148
HP:0001141HP:0001141Severely reduced visual acuity0IMPDH1 CL E G H36146052ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent52
HP:0001141HP:0001141Severely reduced visual acuity0IQCB1 CL E G H965728949ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent61
HP:0001141HP:0001141Severely reduced visual acuity0KCNJ13 CL E G H37696259ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent42
HP:0001141HP:0001141Severely reduced visual acuity0LCA5 CL E G H16769131923ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent70
HP:0001141HP:0001141Severely reduced visual acuity0LRAT CL E G H92276685ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent62
HP:0001141HP:0001141Severely reduced visual acuity0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional125
HP:0001141HP:0001141Severely reduced visual acuity0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040282 - Frequent125
HP:0001141HP:0001141Severely reduced visual acuity0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0001141HP:0001141Severely reduced visual acuity0NHS CL E G H48107820OMIM:302200Cataract, congenital total, with posterior sutural opacities in heterozygotes.88
HP:0001141HP:0001141Severely reduced visual acuity0NMNAT1 CL E G H6480217877ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent15
HP:0001141HP:0001141Severely reduced visual acuity0NPHP4 CL E G H26173419104OMIM:606996Senior-Loken syndrome 4.220
HP:0001141HP:0001141Severely reduced visual acuity0OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23201
HP:0001141HP:0001141Severely reduced visual acuity0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0001141HP:0001141Severely reduced visual acuity0PCYT1A CL E G H51308754ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent11
HP:0001141HP:0001141Severely reduced visual acuity0PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0001141HP:0001141Severely reduced visual acuity0RD3 CL E G H34303519689ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent95
HP:0001141HP:0001141Severely reduced visual acuity0RDH12 CL E G H14522619977ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent45
HP:0001141HP:0001141Severely reduced visual acuity0RPE65 CL E G H612110294ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent129
HP:0001141HP:0001141Severely reduced visual acuity0RPE65 CL E G H612110294OMIM:613794Retinitis pigmentosa 20.129
HP:0001141HP:0001141Severely reduced visual acuity0RPGRIP1 CL E G H5709613436ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent109
HP:0001141HP:0001141Severely reduced visual acuity0RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6.109
HP:0001141HP:0001141Severely reduced visual acuity0SPATA7 CL E G H5581220423ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent48
HP:0001141HP:0001141Severely reduced visual acuity0STX3 CL E G H680911438OMIM:619446RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID1
HP:0001141HP:0001141Severely reduced visual acuity0TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophyHP:0040283 - Occasional95
HP:0001141HP:0001141Severely reduced visual acuity0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0001141HP:0001141Severely reduced visual acuity0TUBB4B CL E G H1038320771ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent
HP:0001141HP:0001141Severely reduced visual acuity0TULP1 CL E G H728712423ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent66
HP:0001141HP:0001141Severely reduced visual acuity0USP45 CL E G H8501520080ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent
HP:0001141HP:0001141Severely reduced visual acuity0WFS1 CL E G H746612762OMIM:614296Wolfram-Like syndrome, autosomal dominant389
HP:0001141HP:0001141Severely reduced visual acuity0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional14
HP:0001141HP:0001141Severely reduced visual acuity0ZNF513 CL E G H13055726498OMIM:613617Retinitis pigmentosa 58.27


Genes (44) :AIPL1 ALG3 C1QTNF5 CACNA1F CEP290 CHST6 CNGB3 CRB1 CRX CTNNB1 CYP4V2 FZD4 GDF6 GUCY2D HPS1 IFT140 IMPDH1 IQCB1 KCNJ13 LCA5 LRAT LRP5 NDP NHS NMNAT1 NPHP4 OFD1 OSTM1 PCYT1A PROM1 RD3 RDH12 RPE65 RPGRIP1 SPATA7 STX3 TIMP3 TSPAN12 TUBB4B TULP1 USP45 WFS1 ZNF408 ZNF513

Diseases (21) :ORPHA:65 OMIM:601110 ORPHA:67042 OMIM:300600 ORPHA:98969 OMIM:262300 ORPHA:891 ORPHA:41751 OMIM:203300 ORPHA:2788 OMIM:302200 OMIM:606996 OMIM:300424 OMIM:259720 OMIM:612095 OMIM:613794 OMIM:613826 OMIM:619446 ORPHA:59181 OMIM:614296 OMIM:613617
 

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