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
..Angle closure glaucoma (HP:0012109)

Term ID:

12109

Name:

Angle closure glaucoma

Synonym:

Primary angle closure glaucoma

Definition:

A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).

Comments:

Reference:

HP:0012109

Genes and Diseases:

Child Nodes:

Sister Nodes:

Developmental glaucoma (HP:0001087)

Ocular hypertension (HP:0007906)

Open angle glaucoma (HP:0012108)

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:0012109	HP:0012109	Angle closure glaucoma	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0012109	HP:0012109	Angle closure glaucoma	0	COL18A1 CL E G H	80781	2195	OMIM:618880	GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC		177
HP:0012109	HP:0012109	Angle closure glaucoma	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0012109	HP:0012109	Angle closure glaucoma	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent	125
HP:0012109	HP:0012109	Angle closure glaucoma	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0012109	HP:0012109	Angle closure glaucoma	0	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4		3

Genes (6) :ATOH7 COL18A1 FZD4 LRP5 NDP TMEM98

Diseases (4) :ORPHA:91495 OMIM:618880 ORPHA:2788 OMIM:615972

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