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 internal carotid artery morphology (HP:3000062)

Parent Node:
Abnormality of ophthalmic artery (HP:0410006)

..Starting node
..Abnormality of central retinal artery (HP:3000032)

Term ID:

3000032

Name:

Abnormality of central retinal artery

Synonym:

Definition:

An abnormality of a central retinal artery.

Comments:

Reference:

HP:3000032

Genes and Diseases:

Child Nodes:

........

Central retinal artery occlusion (HP:0025342)

Sister Nodes:

Abnormality of anterior ethmoidal artery (HP:3000031)

Abnormality of dorsal nasal artery (HP:3000039)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:3000032	HP:3000032	Abnormality of central retinal artery	0	CL E G H
HP:3000032	HP:0025342	Central retinal artery occlusion	1	CL E G H

Genes (0) :

Diseases (0) :

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