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 choroid morphology (HP:0000610)

Parent Node:
Abnormal morphology of the choroidal vasculature (HP:0025568)

..Starting node
..Dilatation of large choroidal vessels (HP:0030979)

Term ID:

30979

Name:

Dilatation of large choroidal vessels

Synonym:

Dilated choroidal vessels

Definition:

Enlargement of the large blood vessels in the choroid.

Comments:

Reference:

HP:0030979

Genes and Diseases:

Child Nodes:

Sister Nodes:

Choroidal hemangioma (HP:0007872)

Choroidal neovascularization (HP:0011506)

Choroidal vascular hyperpermeability (HP:0025570)

Polypoidal choroidal vasculopathy (HP:0025569)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030979	HP:0030979	Dilatation of large choroidal vessels	0	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.