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:
Abnormality iris morphology (HP:0000525)

Parent Node:
Abnormal pupil morphology (HP:0000615)

..Starting node
..Abnormal pupil shape (HP:0025309)

Term ID:

25309

Name:

Abnormal pupil shape

Synonym:

Irregular pupil

Definition:

A deviation from the normal circular shape of the pupil

Comments:

Reference:

HP:0025309

Genes and Diseases:

Child Nodes:

........

Oval pupil (HP:0025310)

Sister Nodes:

Anisocoria (HP:0009916)

Ectopia pupillae (HP:0009918)

Leukocoria (HP:0000555)

Microcoria (HP:0025492)

Persistent pupillary membrane (HP:0009917)

Polycoria (HP:0011500)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025309	HP:0025309	Abnormal pupil shape	0	CL E G H
HP:0025309	HP:0025310	Oval pupil	1	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.