Rare diseases · Sign or symptom

Abnormal skin morphology

Abnormal skin structure

HP:0011121

What it means

Any morphological abnormality of the skin.

Rare diseases that can present with this17

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 3 diseases 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 skin morphology

Abnormal skin 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.