Human Phenotype Ontology 
Grandparent Node:
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Abnormality of refraction (HP:0000539)help
Parent Node:
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Hypermetropia (HP:0000540)help
..Starting node
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High hypermetropia (HP:0008499)help
Term ID: 8499
Name: High hypermetropia
Synonym: High hyperopia; High-grade hypermetropia; Severe farsightedness; Severe long-sightedness
Definition: A severe form of hypermetropia with over +5.00 diopters.
Comments:
Reference: HP:0008499
Genes and Diseases:
 
       Child Nodes:
........expandLatent hypermetropia (HP:0500042) help

 Sister Nodes: 
..expandMild hypermetropia (HP:0031728) help
..expandModerate hypermetropia (HP:0031729) 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:0008499HP:0008499High hypermetropia0ALDH1A3 CL E G H220409ORPHA:35612NanophthalmosHP:0040281 - Very frequent10
HP:0008499HP:0008499High hypermetropia0ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent
HP:0008499HP:0008499High hypermetropia0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0BEST1 CL E G H743912703ORPHA:35612NanophthalmosHP:0040281 - Very frequent182
HP:0008499HP:0008499High hypermetropia0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0008499HP:0008499High hypermetropia0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent636
HP:0008499HP:0008499High hypermetropia0CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent9
HP:0008499HP:0008499High hypermetropia0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent15
HP:0008499HP:0008499High hypermetropia0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent60
HP:0008499HP:0008499High hypermetropia0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0008499HP:0008499High hypermetropia0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8.156
HP:0008499HP:0008499High hypermetropia0CRB1 CL E G H234182343ORPHA:35612NanophthalmosHP:0040281 - Very frequent156
HP:0008499HP:0008499High hypermetropia0CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0008499HP:0008499High hypermetropia0CSTA CL E G H14752481ORPHA:263534Acral peeling skin syndromeHP:0040282 - Frequent4
HP:0008499HP:0008499High hypermetropia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0008499HP:0008499High hypermetropia0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent33
HP:0008499HP:0008499High hypermetropia0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040283 - Occasional18
HP:0008499HP:0008499High hypermetropia0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0008499HP:0008499High hypermetropia0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0008499HP:0008499High hypermetropia0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0008499HP:0008499High hypermetropia0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0008499HP:0008499High hypermetropia0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0008499HP:0008499High hypermetropia0HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent
HP:0008499HP:0008499High hypermetropia0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0008499HP:0008499High hypermetropia0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional93
HP:0008499HP:0008499High hypermetropia0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional11
HP:0008499HP:0008499High hypermetropia0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional4
HP:0008499HP:0008499High hypermetropia0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0008499HP:0008499High hypermetropia0LCA5 CL E G H16769131923OMIM:604537Leber congenital amaurosis 5.70
HP:0008499HP:0008499High hypermetropia0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0008499HP:0008499High hypermetropia0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0008499HP:0008499High hypermetropia0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0008499HP:0008499High hypermetropia0MFRP CL E G H8355218121ORPHA:35612NanophthalmosHP:0040281 - Very frequent26
HP:0008499HP:0008499High hypermetropia0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0008499HP:0008499High hypermetropia0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0008499HP:0008499High hypermetropia0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent516
HP:0008499HP:0008499High hypermetropia0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0008499HP:0008499High hypermetropia0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0008499HP:0008499High hypermetropia0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0008499HP:0008499High hypermetropia0OTX2 CL E G H50158522ORPHA:35612NanophthalmosHP:0040281 - Very frequent41
HP:0008499HP:0008499High hypermetropia0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent352
HP:0008499HP:0008499High hypermetropia0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0008499HP:0008499High hypermetropia0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0008499HP:0008499High hypermetropia0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0008499HP:0008499High hypermetropia0PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 6.11
HP:0008499HP:0008499High hypermetropia0PRSS56 CL E G H64696039433ORPHA:35612NanophthalmosHP:0040281 - Very frequent11
HP:0008499HP:0008499High hypermetropia0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040282 - Frequent150
HP:0008499HP:0008499High hypermetropia0RAX CL E G H3006218662ORPHA:35612NanophthalmosHP:0040281 - Very frequent43
HP:0008499HP:0008499High hypermetropia0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0008499HP:0008499High hypermetropia0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0008499HP:0008499High hypermetropia0RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6.109
HP:0008499HP:0008499High hypermetropia0SIX6 CL E G H499010892ORPHA:35612NanophthalmosHP:0040281 - Very frequent20
HP:0008499HP:0008499High hypermetropia0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0008499HP:0008499High hypermetropia0SLC6A6 CL E G H653311052OMIM:145350Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0008499HP:0008499High hypermetropia0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040282 - Frequent504
HP:0008499HP:0008499High hypermetropia0SOX2 CL E G H665711195ORPHA:35612NanophthalmosHP:0040281 - Very frequent33
HP:0008499HP:0008499High hypermetropia0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0008499HP:0008499High hypermetropia0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0008499HP:0008499High hypermetropia0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0TGM5 CL E G H933311781ORPHA:263534Acral peeling skin syndromeHP:0040282 - Frequent44
HP:0008499HP:0008499High hypermetropia0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0TMEM98 CL E G H2602224529ORPHA:35612NanophthalmosHP:0040281 - Very frequent3
HP:0008499HP:0008499High hypermetropia0TRNS2 CL E G H45757498ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent
HP:0008499HP:0008499High hypermetropia0TUBB4B CL E G H1038320771OMIM:617879Leber congenital amaurosis with early-onset deafness.
HP:0008499HP:0008499High hypermetropia0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0008499HP:0008499High hypermetropia0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent173
HP:0008499HP:0008499High hypermetropia0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent78
HP:0008499HP:0008499High hypermetropia0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0008499HP:0008499High hypermetropia0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional95
HP:0008499HP:0008499High hypermetropia0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional136
HP:0008499HP:0008499High hypermetropia0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008499HP:0500042Latent hypermetropia1 CL E G H


Genes (77) :ALDH1A3 ARSG BAZ1B BCL7B BEST1 BUD23 CASZ1 CDH23 CEP78 CIB2 CLIP2 CLRN1 CNNM4 CRB1 CSTA DNAJC30 EIF4H ELN ESPN FGF3 FKBP6 GABRD GJA1 GTF2I GTF2IRD1 GTF2IRD2 HARS1 HSPG2 IFT122 IFT43 IFT52 KCNAB2 LCA5 LIMK1 LUZP1 MED25 METTL27 MFRP MLXIPL MMP23B MYO7A NCF1 NMNAT1 OGT OTX2 PCDH15 PDPN PRDM16 PRKCZ PRSS56 RAI1 RAX RERE RFC2 RMRP RPGRIP1 SIX6 SKI SLC6A6 SMAD4 SOX2 SPEN STX1A TAOK1 TBL2 TGM5 TMEM270 TMEM98 TRNS2 TUBB4B UBE4B USH1C USH1G VPS37D WDR19 WDR35 ZMYM2

Diseases (25) :ORPHA:35612 ORPHA:231183 ORPHA:904 ORPHA:1606 ORPHA:231169 OMIM:217080 OMIM:613835 OMIM:600105 ORPHA:263534 ORPHA:90024 ORPHA:2710 ORPHA:1515 OMIM:604537 ORPHA:464738 OMIM:619260 OMIM:300997 OMIM:613517 ORPHA:1713 ORPHA:175 OMIM:613826 OMIM:145350 ORPHA:2588 OMIM:619575 OMIM:617879 OMIM:619522
 

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