Rare diseases · Sign or symptom

Abnormal optic disc morphology

HP:0012795

What it means

A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.

The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination.

Rare diseases that can present with this9

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. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Abnormal optic disc 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.