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 arteriolar constriction (HP:0008043)

Term ID:

8043

Name:

Retinal arteriolar constriction

Synonym:

Constricted retinal arterioles; Narrow retinal arterioles; Retinal arteriolar narrowing

Definition:

Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.

Comments:

Reference:

HP:0008043

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 occlusion (HP:0025326)

Retinal arterial tortuosity (HP:0000631)

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:0008043	HP:0008043	Retinal arteriolar constriction	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.	182
HP:0008043	HP:0008043	Retinal arteriolar constriction	0	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18	.	28
HP:0008043	HP:0008043	Retinal arteriolar constriction	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14		66

Genes (3) :BEST1 PRPF3 TULP1

Diseases (3) :OMIM:193220 OMIM:601414 OMIM:600132

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