Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormal intraocular pressure (HP:0012632)help
Parent Node:
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Glaucoma (HP:0000501)help
..Starting node
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Ocular hypertension (HP:0007906)help
Term ID: 7906
Name: Ocular hypertension
Synonym: Elevated intraocular pressure; Elevated IOP; High eye pressure; Increased intraocular pressure; Increased IOP; Raised intraocular pressure; Raised IOP
Definition: Intraocular pressure that is 2 standard deviations above the population mean.
Comments:
Reference: HP:0007906
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAngle closure glaucoma (HP:0012109) help
..expandDevelopmental glaucoma (HP:0001087) help
..expandOpen angle glaucoma (HP:0012108) 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:0007906HP:0007906Ocular hypertension0ADAMTS17 CL E G H17069117109OMIM:613195Weill-Marchesani syndrome 4.214
HP:0007906HP:0007906Ocular hypertension0ASB10 CL E G H13637117185OMIM:603383GLAUCOMA 1, OPEN ANGLE, F; GLC1F54
HP:0007906HP:0007906Ocular hypertension0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0007906HP:0007906Ocular hypertension0BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040283 - Occasional184
HP:0007906HP:0007906Ocular hypertension0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040284 - Very rare20
HP:0007906HP:0007906Ocular hypertension0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent27
HP:0007906HP:0007906Ocular hypertension0COL18A1 CL E G H807812195OMIM:618880GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC177
HP:0007906HP:0007906Ocular hypertension0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare284
HP:0007906HP:0007906Ocular hypertension0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare3
HP:0007906HP:0007906Ocular hypertension0CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A.101
HP:0007906HP:0007906Ocular hypertension0CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucomaHP:0040282 - Frequent101
HP:0007906HP:0007906Ocular hypertension0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040283 - Occasional1
HP:0007906HP:0007906Ocular hypertension0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent13
HP:0007906HP:0007906Ocular hypertension0EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucomaHP:0040282 - Frequent54
HP:0007906HP:0007906Ocular hypertension0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare9
HP:0007906HP:0007906Ocular hypertension0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 2.23
HP:0007906HP:0007906Ocular hypertension0GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040283 - Occasional16
HP:0007906HP:0007906Ocular hypertension0GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040283 - Occasional7
HP:0007906HP:0007906Ocular hypertension0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare33
HP:0007906HP:0007906Ocular hypertension0HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathyHP:0040281 - Very frequent4
HP:0007906HP:0007906Ocular hypertension0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome.2
HP:0007906HP:0007906Ocular hypertension0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0007906HP:0007906Ocular hypertension0LTBP2 CL E G H40536715OMIM:614819Weill-Marchesani syndrome 3.123
HP:0007906HP:0007906Ocular hypertension0MYOC CL E G H46537610ORPHA:98977Juvenile glaucomaHP:0040282 - Frequent47
HP:0007906HP:0007906Ocular hypertension0NFIA CL E G H47747784ORPHA:4019861p31p32 microdeletion syndrome12
HP:0007906HP:0007906Ocular hypertension0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare4
HP:0007906HP:0007906Ocular hypertension0PITX3 CL E G H53099006OMIM:107250Anterior segment dysgenesis 1.6
HP:0007906HP:0007906Ocular hypertension0PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 6HP:0040284 - Very rare11
HP:0007906HP:0007906Ocular hypertension0PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomaliesHP:0040283 - Occasional22
HP:0007906HP:0007906Ocular hypertension0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040283 - Occasional19
HP:0007906HP:0007906Ocular hypertension0SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis internaHP:0040284 - Very rare5
HP:0007906HP:0007906Ocular hypertension0TEK CL E G H701011724OMIM:617272Glaucoma 3, primary congenital, E.78
HP:0007906HP:0007906Ocular hypertension0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0007906HP:0007906Ocular hypertension0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare47
HP:0007906HP:0007906Ocular hypertension0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare8


Genes (33) :ADAMTS17 ASB10 ASPH BAP1 C1QTNF5 CHST14 COL18A1 COL2A1 COL8A2 CYP1B1 CYSLTR2 DSE EFEMP1 FN1 FOXE3 GNA11 GNAQ GRHL2 HLA-A HMX1 LMX1B LTBP2 MYOC NFIA OVOL2 PITX3 PRSS56 PXDN SF3B1 SLC39A14 TEK VSX1 ZEB1

Diseases (23) :OMIM:613195 OMIM:603383 OMIM:601552 ORPHA:39044 ORPHA:67042 ORPHA:2953 OMIM:618880 ORPHA:93315 ORPHA:98973 OMIM:231300 ORPHA:98977 OMIM:610256 ORPHA:179 OMIM:612109 ORPHA:2614 OMIM:614819 ORPHA:401986 OMIM:107250 OMIM:613517 OMIM:269400 OMIM:144755 OMIM:617272 OMIM:614195
 

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