Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal eye physiology (HP:0012373)

Parent Node:
Abnormal intraocular pressure (HP:0012632)

Parent Node:
Glaucoma (HP:0000501)

..Starting node
..Ocular hypertension (HP:0007906)

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:

Angle closure glaucoma (HP:0012109)

Developmental glaucoma (HP:0001087)

Open angle glaucoma (HP:0012108)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0007906	HP:0007906	Ocular hypertension	0	ADAMTS17 CL E G H	170691	613195	Weill-Marchesani-like syndrome	613195	C2750787	OMIM	1	8	17109	607511
HP:0007906	HP:0007906	Ocular hypertension	0	ASB10 CL E G H	136371	603383	Glaucoma 1, open angle, F	603383	C1863926	OMIM	1	26	17185	615054
HP:0007906	HP:0007906	Ocular hypertension	0	CYP1B1 CL E G H	1545	231300	Glaucoma 3, primary congenital, A	231300	C1856439	OMIM	1	243	2597	601771
HP:0007906	HP:0007906	Ocular hypertension	0	FOXE3 CL E G H	2301	610256	Congenital primary aphakia	610256	C1853230	OMIM	1	31	3808	601094
HP:0007906	HP:0007906	Ocular hypertension	0	HLA-A CL E G H	3105	179	Macrothrombocytopenia progressive deafness			ORPHA	1	77	4931	142800
HP:0007906	HP:0007906	Ocular hypertension	0	HMX1 CL E G H	3166	612109	Oculoauricular syndrome	612109	C2677500	OMIM	1	4	5017	142992
HP:0007906	HP:0007906	Ocular hypertension	0	LTBP2 CL E G H	4053	614819	Weill-Marchesani syndrome 3	614819	C3553785	OMIM	1	29	6715	602091
HP:0007906	HP:0007906	Ocular hypertension	0	PITX3 CL E G H	5309	107250	Anterior segment mesenchymal dysgenesis	107250	C1862839	OMIM	1	15	9006	602669
HP:0007906	HP:0007906	Ocular hypertension	0	TEK CL E G H	7010	617272	Glaucoma 3, primary congenital, E	617272	C4310639	OMIM	1	35	11724	600221
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007906	HP:0007906	Ocular hypertension	0	BAP1 CL E G H	8314	39044				ORPHA	0	119	950	603089
HP:0007906	HP:0007906	Ocular hypertension	0	CYSLTR2 CL E G H	57105	39044				ORPHA	0	2	18274	605666
HP:0007906	HP:0007906	Ocular hypertension	0	GNA11 CL E G H	2767	39044				ORPHA	0	11	4379	139313
HP:0007906	HP:0007906	Ocular hypertension	0	GNAQ CL E G H	2776	39044				ORPHA	0	6	4390	600998
HP:0007906	HP:0007906	Ocular hypertension	0	PRSS56 CL E G H	646960	613517	Microphthalmia, isolated 6	613517	C3150757	OMIM	0	24	39433	613858
HP:0007906	HP:0007906	Ocular hypertension	0	PXDN CL E G H	7837	269400	Anterior segment dysgenesis 7	269400	C3151617	OMIM	0	14	14966	605158
HP:0007906	HP:0007906	Ocular hypertension	0	SF3B1 CL E G H	23451	39044				ORPHA	0	4	10768	605590
HP:0007906	HP:0007906	Ocular hypertension	0	SLC39A14 CL E G H	23516	144755	Hyperostosis cranialis interna	144755	C1840404	OMIM	0	9	20858	608736

Genes (17) :ADAMTS17 ASB10 BAP1 CYP1B1 CYSLTR2 FOXE3 GNA11 GNAQ HLA-A HMX1 LTBP2 PITX3 PRSS56 PXDN SF3B1 SLC39A14 TEK

Diseases (13) :613195 603383 39044 231300 610256 179 612109 614819 107250 613517 269400 144755 617272

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

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