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 cerebral ventricle morphology (HP:0002118)

Parent Node:
Abnormal choroid plexus morphology (HP:0007376)

..Starting node
..Villous hypertrophy of choroid plexus (HP:0012422)

Term ID:

12422

Name:

Villous hypertrophy of choroid plexus

Synonym:

Choroid plexus hypertrophy; Diffuse villous hypertrophy of choroid plexus

Definition:

Overgrowth of the choroid plexus.

Comments:

Reference:

HP:0012422

Genes and Diseases:

Child Nodes:

Sister Nodes:

Choroid plexus calcification (HP:0006960)

Choroid plexus carcinoma (HP:0030392)

Choroid plexus cyst (HP:0002190)

Choroid plexus papilloma (HP:0200022)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012422	HP:0012422	Villous hypertrophy of choroid plexus	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.