Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 retinal morphology (HP:0000479)

Grandparent Node:
Aplasia/Hypoplasia affecting the fundus (HP:0008057)

Parent Node:
Aplasia/Hypoplasia of the retina (HP:0008061)

..Starting node
..Aplasia of the retina (HP:0010728)

Term ID:

10728

Name:

Aplasia of the retina

Synonym:

Absent retina

Definition:

A developmental defect characterized by absence of the retina.

Comments:

Reference:

HP:0010728

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the macula (HP:0008059)

Hypoplasia of the retina (HP:0007770)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010728	HP:0010728	Aplasia of the retina	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.