Human Phenotype Ontology 
Grandparent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Abnormality of the curvature of the cornea (HP:0100691)help
..Starting node
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Increased corneal curvature (HP:0100692)help
Term ID: 100692
Name: Increased corneal curvature
Synonym: Steep corneal curvature
Definition: An increase in the degree of curvature of the cornea compared to normal.
Comments:
Reference: HP:0100692
Genes and Diseases:
 
       Child Nodes:
........expandKeratoconus (HP:0000563) help
........expandKeratoglobus (HP:0001119) help

 Sister Nodes: 
..expandAstigmatism (HP:0000483) help
..expandFlat cornea (HP:0007720) 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:0100692HP:0100692Increased corneal curvature0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosa826
HP:0100692HP:0100692Increased corneal curvature0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosa2
HP:0100692HP:0100692Increased corneal curvature0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosa175
HP:0100692HP:0100692Increased corneal curvature0AHR CL E G H196348ORPHA:791Retinitis pigmentosa2
HP:0100692HP:0100692Increased corneal curvature0AIPL1 CL E G H23746359ORPHA:65Leber congenital amaurosis114
HP:0100692HP:0100692Increased corneal curvature0AIPL1 CL E G H23746359OMIM:604393Leber congenital amaurosis 4114
HP:0100692HP:0100692Increased corneal curvature0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0100692HP:0100692Increased corneal curvature0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndrome8
HP:0100692HP:0100692Increased corneal curvature0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0100692HP:0100692Increased corneal curvature0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosa6
HP:0100692HP:0100692Increased corneal curvature0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosa3
HP:0100692HP:0100692Increased corneal curvature0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosa1
HP:0100692HP:0100692Increased corneal curvature0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosa29
HP:0100692HP:0100692Increased corneal curvature0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosa114
HP:0100692HP:0100692Increased corneal curvature0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosa97
HP:0100692HP:0100692Increased corneal curvature0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosa182
HP:0100692HP:0100692Increased corneal curvature0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosa23
HP:0100692HP:0100692Increased corneal curvature0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosa147
HP:0100692HP:0100692Increased corneal curvature0CEP290 CL E G H8018429021ORPHA:65Leber congenital amaurosis342
HP:0100692HP:0100692Increased corneal curvature0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosa71
HP:0100692HP:0100692Increased corneal curvature0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosa
HP:0100692HP:0100692Increased corneal curvature0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosa60
HP:0100692HP:0100692Increased corneal curvature0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosa44
HP:0100692HP:0100692Increased corneal curvature0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosa164
HP:0100692HP:0100692Increased corneal curvature0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0100692HP:0100692Increased corneal curvature0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0100692HP:0100692Increased corneal curvature0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional3
HP:0100692HP:0100692Increased corneal curvature0CRB1 CL E G H234182343ORPHA:65Leber congenital amaurosis156
HP:0100692HP:0100692Increased corneal curvature0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0100692HP:0100692Increased corneal curvature0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosa156
HP:0100692HP:0100692Increased corneal curvature0CRX CL E G H14062383ORPHA:65Leber congenital amaurosis158
HP:0100692HP:0100692Increased corneal curvature0CRX CL E G H14062383OMIM:613829Leber congenital amaurosis 7158
HP:0100692HP:0100692Increased corneal curvature0CRX CL E G H14062383ORPHA:791Retinitis pigmentosa158
HP:0100692HP:0100692Increased corneal curvature0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosa47
HP:0100692HP:0100692Increased corneal curvature0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosa1
HP:0100692HP:0100692Increased corneal curvature0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosa209
HP:0100692HP:0100692Increased corneal curvature0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosa56
HP:0100692HP:0100692Increased corneal curvature0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosa26
HP:0100692HP:0100692Increased corneal curvature0GDF6 CL E G H3922554221ORPHA:65Leber congenital amaurosis64
HP:0100692HP:0100692Increased corneal curvature0GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndrome7
HP:0100692HP:0100692Increased corneal curvature0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional33
HP:0100692HP:0100692Increased corneal curvature0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosa36
HP:0100692HP:0100692Increased corneal curvature0GUCY2D CL E G H30004689ORPHA:65Leber congenital amaurosis124
HP:0100692HP:0100692Increased corneal curvature0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I124
HP:0100692HP:0100692Increased corneal curvature0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosa86
HP:0100692HP:0100692Increased corneal curvature0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0100692HP:0100692Increased corneal curvature0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosa
HP:0100692HP:0100692Increased corneal curvature0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosa30
HP:0100692HP:0100692Increased corneal curvature0IFT140 CL E G H974229077ORPHA:65Leber congenital amaurosis148
HP:0100692HP:0100692Increased corneal curvature0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosa148
HP:0100692HP:0100692Increased corneal curvature0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosa48
HP:0100692HP:0100692Increased corneal curvature0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosa3
HP:0100692HP:0100692Increased corneal curvature0IMPDH1 CL E G H36146052ORPHA:65Leber congenital amaurosis52
HP:0100692HP:0100692Increased corneal curvature0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosa52
HP:0100692HP:0100692Increased corneal curvature0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosa4
HP:0100692HP:0100692Increased corneal curvature0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosa120
HP:0100692HP:0100692Increased corneal curvature0IQCB1 CL E G H965728949ORPHA:65Leber congenital amaurosis61
HP:0100692HP:0100692Increased corneal curvature0KCNJ13 CL E G H37696259ORPHA:65Leber congenital amaurosis42
HP:0100692HP:0100692Increased corneal curvature0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosa
HP:0100692HP:0100692Increased corneal curvature0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosa3
HP:0100692HP:0100692Increased corneal curvature0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosa42
HP:0100692HP:0100692Increased corneal curvature0LCA5 CL E G H16769131923ORPHA:65Leber congenital amaurosis70
HP:0100692HP:0100692Increased corneal curvature0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0100692HP:0100692Increased corneal curvature0LRAT CL E G H92276685ORPHA:65Leber congenital amaurosis62
HP:0100692HP:0100692Increased corneal curvature0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosa62
HP:0100692HP:0100692Increased corneal curvature0MAK CL E G H41176816ORPHA:791Retinitis pigmentosa53
HP:0100692HP:0100692Increased corneal curvature0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosa75
HP:0100692HP:0100692Increased corneal curvature0MIR184 CL E G H40696031555OMIM:614303Edict syndrome1
HP:0100692HP:0100692Increased corneal curvature0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosa5
HP:0100692HP:0100692Increased corneal curvature0NMNAT1 CL E G H6480217877ORPHA:65Leber congenital amaurosis15
HP:0100692HP:0100692Increased corneal curvature0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0100692HP:0100692Increased corneal curvature0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosa58
HP:0100692HP:0100692Increased corneal curvature0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndrome37
HP:0100692HP:0100692Increased corneal curvature0NRL CL E G H49018002ORPHA:791Retinitis pigmentosa30
HP:0100692HP:0100692Increased corneal curvature0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosa201
HP:0100692HP:0100692Increased corneal curvature0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional4
HP:0100692HP:0100692Increased corneal curvature0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosa
HP:0100692HP:0100692Increased corneal curvature0PCYT1A CL E G H51308754ORPHA:65Leber congenital amaurosis11
HP:0100692HP:0100692Increased corneal curvature0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosa116
HP:0100692HP:0100692Increased corneal curvature0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosa126
HP:0100692HP:0100692Increased corneal curvature0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosa18
HP:0100692HP:0100692Increased corneal curvature0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 577
HP:0100692HP:0100692Increased corneal curvature0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0100692HP:0100692Increased corneal curvature0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosa180
HP:0100692HP:0100692Increased corneal curvature0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosa39
HP:0100692HP:0100692Increased corneal curvature0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndrome58
HP:0100692HP:0100692Increased corneal curvature0PRDM5 CL E G H111079349OMIM:614170Brittle cornea syndrome 258
HP:0100692HP:0100692Increased corneal curvature0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosa110
HP:0100692HP:0100692Increased corneal curvature0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosa28
HP:0100692HP:0100692Increased corneal curvature0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosa70
HP:0100692HP:0100692Increased corneal curvature0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosa2
HP:0100692HP:0100692Increased corneal curvature0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosa51
HP:0100692HP:0100692Increased corneal curvature0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosa94
HP:0100692HP:0100692Increased corneal curvature0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosa159
HP:0100692HP:0100692Increased corneal curvature0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosa108
HP:0100692HP:0100692Increased corneal curvature0RD3 CL E G H34303519689ORPHA:65Leber congenital amaurosis95
HP:0100692HP:0100692Increased corneal curvature0RDH12 CL E G H14522619977ORPHA:65Leber congenital amaurosis45
HP:0100692HP:0100692Increased corneal curvature0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosa45
HP:0100692HP:0100692Increased corneal curvature0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosa5
HP:0100692HP:0100692Increased corneal curvature0RGR CL E G H59959990ORPHA:791Retinitis pigmentosa28
HP:0100692HP:0100692Increased corneal curvature0RHO CL E G H601010012ORPHA:791Retinitis pigmentosa107
HP:0100692HP:0100692Increased corneal curvature0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosa47
HP:0100692HP:0100692Increased corneal curvature0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosa38
HP:0100692HP:0100692Increased corneal curvature0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosa111
HP:0100692HP:0100692Increased corneal curvature0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosa284
HP:0100692HP:0100692Increased corneal curvature0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosa45
HP:0100692HP:0100692Increased corneal curvature0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosa14
HP:0100692HP:0100692Increased corneal curvature0RPE65 CL E G H612110294ORPHA:65Leber congenital amaurosis129
HP:0100692HP:0100692Increased corneal curvature0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosa129
HP:0100692HP:0100692Increased corneal curvature0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosa200
HP:0100692HP:0100692Increased corneal curvature0RPGRIP1 CL E G H5709613436ORPHA:65Leber congenital amaurosis109
HP:0100692HP:0100692Increased corneal curvature0RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6109
HP:0100692HP:0100692Increased corneal curvature0SAG CL E G H629510521ORPHA:791Retinitis pigmentosa32
HP:0100692HP:0100692Increased corneal curvature0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosa
HP:0100692HP:0100692Increased corneal curvature0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosa48
HP:0100692HP:0100692Increased corneal curvature0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome178
HP:0100692HP:0100692Increased corneal curvature0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0100692HP:0100692Increased corneal curvature0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosa4
HP:0100692HP:0100692Increased corneal curvature0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosa83
HP:0100692HP:0100692Increased corneal curvature0SPATA7 CL E G H5581220423ORPHA:65Leber congenital amaurosis48
HP:0100692HP:0100692Increased corneal curvature0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosa48
HP:0100692HP:0100692Increased corneal curvature0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosa61
HP:0100692HP:0100692Increased corneal curvature0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosa41
HP:0100692HP:0100692Increased corneal curvature0TUB CL E G H727512406ORPHA:791Retinitis pigmentosa1
HP:0100692HP:0100692Increased corneal curvature0TUBB4B CL E G H1038320771ORPHA:65Leber congenital amaurosis
HP:0100692HP:0100692Increased corneal curvature0TULP1 CL E G H728712423ORPHA:65Leber congenital amaurosis66
HP:0100692HP:0100692Increased corneal curvature0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosa66
HP:0100692HP:0100692Increased corneal curvature0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosa777
HP:0100692HP:0100692Increased corneal curvature0USP45 CL E G H8501520080ORPHA:65Leber congenital amaurosis
HP:0100692HP:0100692Increased corneal curvature0VSX1 CL E G H3081312723OMIM:148300Keratoconus 147
HP:0100692HP:0100692Increased corneal curvature0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional47
HP:0100692HP:0100692Increased corneal curvature0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional8
HP:0100692HP:0100692Increased corneal curvature0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosa14
HP:0100692HP:0100692Increased corneal curvature0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome397
HP:0100692HP:0100692Increased corneal curvature0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndrome397
HP:0100692HP:0100692Increased corneal curvature0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosa27
HP:0100692HP:0000563Keratoconus1ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent826
HP:0100692HP:0000563Keratoconus1AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent2
HP:0100692HP:0000563Keratoconus1AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent175
HP:0100692HP:0000563Keratoconus1AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent2
HP:0100692HP:0000563Keratoconus1AIPL1 CL E G H23746359ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent114
HP:0100692HP:0000563Keratoconus1AIPL1 CL E G H23746359OMIM:604393Leber congenital amaurosis 4HP:0040283 - Occasional114
HP:0100692HP:0000563Keratoconus1ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0100692HP:0000563Keratoconus1ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040282 - Frequent8
HP:0100692HP:0000563Keratoconus1AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0100692HP:0000563Keratoconus1ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent6
HP:0100692HP:0000563Keratoconus1ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent3
HP:0100692HP:0000563Keratoconus1ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent1
HP:0100692HP:0000563Keratoconus1ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent29
HP:0100692HP:0000563Keratoconus1BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent114
HP:0100692HP:0000563Keratoconus1BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent97
HP:0100692HP:0000563Keratoconus1BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent182
HP:0100692HP:0000563Keratoconus1CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent23
HP:0100692HP:0000563Keratoconus1CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent147
HP:0100692HP:0000563Keratoconus1CEP290 CL E G H8018429021ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent342
HP:0100692HP:0000563Keratoconus1CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent71
HP:0100692HP:0000563Keratoconus1CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0100692HP:0000563Keratoconus1CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent60
HP:0100692HP:0000563Keratoconus1CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent44
HP:0100692HP:0000563Keratoconus1CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent164
HP:0100692HP:0000563Keratoconus1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type.749
HP:0100692HP:0000563Keratoconus1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0100692HP:0000563Keratoconus1CRB1 CL E G H234182343ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent156
HP:0100692HP:0000563Keratoconus1CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8.156
HP:0100692HP:0000563Keratoconus1CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent156
HP:0100692HP:0000563Keratoconus1CRX CL E G H14062383ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent158
HP:0100692HP:0000563Keratoconus1CRX CL E G H14062383OMIM:613829Leber congenital amaurosis 7.158
HP:0100692HP:0000563Keratoconus1CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent158
HP:0100692HP:0000563Keratoconus1DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent47
HP:0100692HP:0000563Keratoconus1DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent1
HP:0100692HP:0000563Keratoconus1EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent209
HP:0100692HP:0000563Keratoconus1FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent56
HP:0100692HP:0000563Keratoconus1FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent26
HP:0100692HP:0000563Keratoconus1GDF6 CL E G H3922554221ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent64
HP:0100692HP:0000563Keratoconus1GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndromeHP:0040283 - Occasional7
HP:0100692HP:0000563Keratoconus1GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent36
HP:0100692HP:0000563Keratoconus1GUCY2D CL E G H30004689ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent124
HP:0100692HP:0000563Keratoconus1GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0100692HP:0000563Keratoconus1HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent86
HP:0100692HP:0000563Keratoconus1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0100692HP:0000563Keratoconus1IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0100692HP:0000563Keratoconus1IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent30
HP:0100692HP:0000563Keratoconus1IFT140 CL E G H974229077ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent148
HP:0100692HP:0000563Keratoconus1IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent148
HP:0100692HP:0000563Keratoconus1IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent48
HP:0100692HP:0000563Keratoconus1IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent3
HP:0100692HP:0000563Keratoconus1IMPDH1 CL E G H36146052ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent52
HP:0100692HP:0000563Keratoconus1IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent52
HP:0100692HP:0000563Keratoconus1IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent4
HP:0100692HP:0000563Keratoconus1IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent120
HP:0100692HP:0000563Keratoconus1IQCB1 CL E G H965728949ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent61
HP:0100692HP:0000563Keratoconus1KCNJ13 CL E G H37696259ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent42
HP:0100692HP:0000563Keratoconus1KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0100692HP:0000563Keratoconus1KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent3
HP:0100692HP:0000563Keratoconus1KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent42
HP:0100692HP:0000563Keratoconus1LCA5 CL E G H16769131923ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent70
HP:0100692HP:0000563Keratoconus1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0100692HP:0000563Keratoconus1LRAT CL E G H92276685ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent62
HP:0100692HP:0000563Keratoconus1LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent62
HP:0100692HP:0000563Keratoconus1MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent53
HP:0100692HP:0000563Keratoconus1MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent75
HP:0100692HP:0000563Keratoconus1MIR184 CL E G H40696031555OMIM:614303Edict syndromeHP:0040283 - Occasional1
HP:0100692HP:0000563Keratoconus1NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent5
HP:0100692HP:0000563Keratoconus1NMNAT1 CL E G H6480217877ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent15
HP:0100692HP:0000563Keratoconus1NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0100692HP:0000563Keratoconus1NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent58
HP:0100692HP:0000563Keratoconus1NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040284 - Very rare37
HP:0100692HP:0000563Keratoconus1NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent30
HP:0100692HP:0000563Keratoconus1OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent201
HP:0100692HP:0000563Keratoconus1PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0100692HP:0000563Keratoconus1PCYT1A CL E G H51308754ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent11
HP:0100692HP:0000563Keratoconus1PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent116
HP:0100692HP:0000563Keratoconus1PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent126
HP:0100692HP:0000563Keratoconus1PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent18
HP:0100692HP:0001119Keratoglobus1PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0100692HP:0000563Keratoconus1PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0100692HP:0000563Keratoconus1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0100692HP:0000563Keratoconus1POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent180
HP:0100692HP:0000563Keratoconus1PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent39
HP:0100692HP:0001119Keratoglobus1PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040281 - Very frequent58
HP:0100692HP:0001119Keratoglobus1PRDM5 CL E G H111079349OMIM:614170Brittle cornea syndrome 2.58
HP:0100692HP:0000563Keratoconus1PRDM5 CL E G H111079349OMIM:614170Brittle cornea syndrome 2.58
HP:0100692HP:0000563Keratoconus1PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent110
HP:0100692HP:0000563Keratoconus1PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent28
HP:0100692HP:0000563Keratoconus1PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent70
HP:0100692HP:0000563Keratoconus1PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent2
HP:0100692HP:0000563Keratoconus1PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent51
HP:0100692HP:0000563Keratoconus1PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent94
HP:0100692HP:0000563Keratoconus1PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent159
HP:0100692HP:0000563Keratoconus1RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent108
HP:0100692HP:0000563Keratoconus1RD3 CL E G H34303519689ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent95
HP:0100692HP:0000563Keratoconus1RDH12 CL E G H14522619977ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent45
HP:0100692HP:0000563Keratoconus1RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent45
HP:0100692HP:0000563Keratoconus1REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent5
HP:0100692HP:0000563Keratoconus1RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent28
HP:0100692HP:0000563Keratoconus1RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent107
HP:0100692HP:0000563Keratoconus1RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent47
HP:0100692HP:0000563Keratoconus1ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent38
HP:0100692HP:0000563Keratoconus1RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent111
HP:0100692HP:0000563Keratoconus1RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent284
HP:0100692HP:0000563Keratoconus1RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent45
HP:0100692HP:0000563Keratoconus1RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent14
HP:0100692HP:0000563Keratoconus1RPE65 CL E G H612110294ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent129
HP:0100692HP:0000563Keratoconus1RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent129
HP:0100692HP:0000563Keratoconus1RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent200
HP:0100692HP:0000563Keratoconus1RPGRIP1 CL E G H5709613436ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent109
HP:0100692HP:0000563Keratoconus1RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6.109
HP:0100692HP:0000563Keratoconus1SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent32
HP:0100692HP:0000563Keratoconus1SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0100692HP:0000563Keratoconus1SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent48
HP:0100692HP:0000563Keratoconus1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0100692HP:0000563Keratoconus1SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0100692HP:0001119Keratoglobus1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0100692HP:0000563Keratoconus1SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent4
HP:0100692HP:0000563Keratoconus1SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent83
HP:0100692HP:0000563Keratoconus1SPATA7 CL E G H5581220423ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent48
HP:0100692HP:0000563Keratoconus1SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent48
HP:0100692HP:0000563Keratoconus1TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent61
HP:0100692HP:0000563Keratoconus1TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent41
HP:0100692HP:0000563Keratoconus1TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent1
HP:0100692HP:0000563Keratoconus1TUBB4B CL E G H1038320771ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent
HP:0100692HP:0000563Keratoconus1TULP1 CL E G H728712423ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent66
HP:0100692HP:0000563Keratoconus1TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent66
HP:0100692HP:0000563Keratoconus1USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent777
HP:0100692HP:0000563Keratoconus1USP45 CL E G H8501520080ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent
HP:0100692HP:0000563Keratoconus1VSX1 CL E G H3081312723OMIM:148300Keratoconus 1.47
HP:0100692HP:0000563Keratoconus1ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent14
HP:0100692HP:0000563Keratoconus1ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397
HP:0100692HP:0001119Keratoglobus1ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040281 - Very frequent397
HP:0100692HP:0001119Keratoglobus1ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397
HP:0100692HP:0000563Keratoconus1ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent27


Genes (115) :ABCA4 AGBL5 AHI1 AHR AIPL1 ANTXR1 AP1B1 ARHGEF18 ARL2BP ARL3 ARL6 BBS1 BBS2 BEST1 CA4 CDHR1 CEP290 CERKL CFAP418 CLRN1 CNGA1 CNGB1 COL3A1 COL8A2 CRB1 CRX DHDDS DHX38 EYS FAM161A FSCN2 GDF6 GNB5 GRHL2 GUCA1B GUCY2D HGSNAT HRAS IDH3A IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG1 IMPG2 IQCB1 KCNJ13 KIAA1549 KIZ KLHL7 LCA5 LMX1B LRAT MAK MERTK MIR184 NEK2 NMNAT1 NR2E3 NR2F1 NRL OFD1 OVOL2 PCARE PCYT1A PDE6A PDE6B PDE6G PIEZO2 PLOD1 POMGNT1 PRCD PRDM5 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RBP3 RD3 RDH12 REEP6 RGR RHO RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 SAG SCAPER SEMA4A SLC2A10 SLC7A14 SNRNP200 SPATA7 TOPORS TTC8 TUB TUBB4B TULP1 USH2A USP45 VSX1 ZEB1 ZNF408 ZNF469 ZNF513

Diseases (27) :ORPHA:791 ORPHA:65 OMIM:604393 OMIM:230740 ORPHA:2067 OMIM:242150 OMIM:130050 ORPHA:286 ORPHA:98973 OMIM:613835 OMIM:613829 ORPHA:542306 OMIM:204000 ORPHA:3071 OMIM:161200 OMIM:614303 OMIM:608553 ORPHA:401777 OMIM:108145 OMIM:225400 ORPHA:90354 OMIM:614170 OMIM:613826 OMIM:208050 ORPHA:3342 OMIM:148300 OMIM:229200
 

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