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:
Glaucoma (HP:0000501)

..Starting node
..Open angle glaucoma (HP:0012108)

Term ID:

12108

Name:

Open angle glaucoma

Synonym:

Primary open angle glaucoma

Definition:

A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,

Comments:

Reference:

HP:0012108

Genes and Diseases:

Child Nodes:

Sister Nodes:

Angle closure glaucoma (HP:0012109)

Developmental glaucoma (HP:0001087)

Ocular hypertension (HP:0007906)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012108	HP:0012108	Open angle glaucoma	0	ASB10 CL E G H	136371	17185	OMIM:603383	GLAUCOMA 1, OPEN ANGLE, F; GLC1F		54
HP:0012108	HP:0012108	Open angle glaucoma	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent	101
HP:0012108	HP:0012108	Open angle glaucoma	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent	54
HP:0012108	HP:0012108	Open angle glaucoma	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0012108	HP:0012108	Open angle glaucoma	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0012108	HP:0012108	Open angle glaucoma	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0012108	HP:0012108	Open angle glaucoma	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0012108	HP:0012108	Open angle glaucoma	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent	47
HP:0012108	HP:0012108	Open angle glaucoma	0	NTF4 CL E G H	4909	8024	OMIM:613100	Glaucoma 1, open angle, O	.	4
HP:0012108	HP:0012108	Open angle glaucoma	0	OPTN CL E G H	10133	17142	OMIM:137760	Glaucoma, primary open angle	.	62
HP:0012108	HP:0012108	Open angle glaucoma	0	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B		45
HP:0012108	HP:0012108	Open angle glaucoma	0	WDR36 CL E G H	134430	30696	OMIM:609887	Glaucoma 1, open angle, G	.	124

Genes (12) :ASB10 CYP1B1 EFEMP1 FGF10 FGFR2 FGFR3 LMX1B MYOC NTF4 OPTN POLG2 WDR36

Diseases (8) :OMIM:603383 ORPHA:98977 ORPHA:2363 ORPHA:2614 OMIM:613100 OMIM:137760 OMIM:619425 OMIM:609887

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

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