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 of the vasculature (HP:0002597)

Grandparent Node:
obsolete Abnormal globe morphology (HP:0012374)

Parent Node:
Abnormality iris morphology (HP:0000525)

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

..Starting node
..Abnormal iris vasculature (HP:0007905)

Term ID:

7905

Name:

Abnormal iris vasculature

Synonym:

Abnormality of iris blood vessels

Definition:

Comments:

Reference:

HP:0007905

Genes and Diseases:

Child Nodes:

........

Iris neovascularization (HP:0011497)

........

Iris hypoperfusion (HP:0012635)

........

Rubeosis iridis (HP:0025319)

Sister Nodes:

Abnormal morphology of the conjunctival vasculature (HP:0008054)

Abnormal retinal vascular morphology (HP:0008046)

Red eye (HP:0025337)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007905	HP:0007905	Abnormal iris vasculature	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	.	HP:0003621 - Juvenile onset	63
HP:0007905	HP:0007905	Abnormal iris vasculature	0	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome			3
HP:0007905	HP:0007905	Abnormal iris vasculature	0	MYOC CL E G H	4653	7610	OMIM:137750	Glaucoma 1, open angle, A	.		47
HP:0007905	HP:0025319	Rubeosis iridis	1	CL E G H
HP:0007905	HP:0011497	Iris neovascularization	1	CL E G H
HP:0007905	HP:0012635	Iris hypoperfusion	1	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome	.		3

Genes (3) :FOXC1 LOXL1 MYOC

Diseases (3) :OMIM:601631 OMIM:177650 OMIM:137750

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