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 anterior eye segment morphology (HP:0004328)

Grandparent Node:
Aplasia/Hypoplasia affecting the eye (HP:0008056)

Parent Node:
Aplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062)

..Starting node
..Anterior segment of eye aplasia (HP:0007779)

Term ID:

7779

Name:

Anterior segment of eye aplasia

Synonym:

Definition:

Comments:

Reference:

HP:0007779

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the iris (HP:0008053)

Aplasia/Hypoplasia of the lens (HP:0008063)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007779	HP:0007779	Anterior segment of eye aplasia	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2	.	23

Genes (1) :FOXE3

Diseases (1) :OMIM:610256

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