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:
Abnormality iris morphology (HP:0000525)

Grandparent Node:
Abnormality of the vasculature of the eye (HP:0008047)

Parent Node:
Abnormal iris vasculature (HP:0007905)

..Starting node
..Iris hypoperfusion (HP:0012635)

Term ID:

12635

Name:

Iris hypoperfusion

Synonym:

Definition:

Reduction in the amount of blood flow to the iris.

Comments:

Reference:

HP:0012635

Genes and Diseases:

Child Nodes:

Sister Nodes:

Iris neovascularization (HP:0011497)

Rubeosis iridis (HP:0025319)

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:0012635	HP:0012635	Iris hypoperfusion	0	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome	.	3

Genes (1) :LOXL1

Diseases (1) :OMIM:177650

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