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 head blood vessel morphology (HP:3000036)

Grandparent Node:
Abnormal retinal vascular morphology (HP:0008046)

Grandparent Node:
Abnormal systemic arterial morphology (HP:0011004)

Parent Node:
Abnormal retinal artery morphology (HP:0000630)

..Starting node
..Retinal arterial occlusion (HP:0025326)

Term ID:

25326

Name:

Retinal arterial occlusion

Synonym:

Retinal artery occlusion

Definition:

Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.

Comments:

Reference:

HP:0025326

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central fundal arteriolar microaneurysms (HP:0008014)

Cherry red spot of the macula (HP:0010729)

Retinal arterial macroaneurysms (HP:0025355)

Retinal arterial tortuosity (HP:0000631)

Retinal arteriolar constriction (HP:0008043)

Retinal arteriolar occlusion (HP:0007985)

Retinal arteriolar tortuosity (HP:0001136)

Retinal arteritis (HP:0008030)

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:0025326	HP:0025326	Retinal arterial occlusion	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare	101
HP:0025326	HP:0025326	Retinal arterial occlusion	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare	54
HP:0025326	HP:0025326	Retinal arterial occlusion	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare	47
HP:0025326	HP:0025342	Central retinal artery occlusion	1	CL E G H
HP:0025326	HP:0020164	Ophthalmic artery occlusion	1	CL E G H
HP:0025326	HP:0020163	Cilioretinal artery occlusion	1	CL E G H
HP:0025326	HP:0020161	Branch retinal artery occlusion	1	CL E G H

Genes (3) :CYP1B1 EFEMP1 MYOC

Diseases (1) :ORPHA:98977

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