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 systemic arterial morphology (HP:0011004)

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

Parent Node:
Arterial stenosis (HP:0100545)

..Starting node
..Retinal arteriolar occlusion (HP:0007985)

Term ID:

7985

Name:

Retinal arteriolar occlusion

Synonym:

Blocked retinal artery

Definition:

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

Comments:

Reference:

HP:0007985

Genes and Diseases:

Child Nodes:

Sister Nodes:

Carotid artery stenosis (HP:0100546)

Cerebral ischemia (HP:0002637)

Coronary artery atherosclerosis (HP:0001677)

Peripheral arterial stenosis (HP:0004950)

Renal artery stenosis (HP:0001920)

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:0007985	HP:0007985	Retinal arteriolar occlusion	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.	182
HP:0007985	HP:0007985	Retinal arteriolar occlusion	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040283 - Occasional	28

Genes (2) :BEST1 F12

Diseases (2) :OMIM:193220 ORPHA:330

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