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 sclera morphology (HP:0000591)

Parent Node:
Scleral staphyloma (HP:0030854)

..Starting node
..Anterior staphyloma (HP:0030855)

Term ID:

30855

Name:

Anterior staphyloma

Synonym:

Definition:

A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.

Comments:

Reference:

HP:0030855

Genes and Diseases:

Child Nodes:

Sister Nodes:

Posterior staphyloma (HP:0030856)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030855	HP:0030855	Anterior staphyloma	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.