Rare diseases · Sign or symptom

Abnormal eye morphology

Abnormal eye structure

HP:0012372

What it means

A structural anomaly of the globe of the eye, or bulbus oculi.

previously: Abnormal globe morphology

Rare diseases that can present with this8

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Abnormality of the globe · Abnormally shaped eye

Abnormal eye morphology

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.