Rare diseases · Sign or symptom

Morphological central nervous system abnormality

HP:0002011

What it means

A structural abnormality of the central nervous system.

Rare diseases that can present with this23

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 central nervous system · Central nervous system disease · Morphological abnormality of the central nervous system · Morphological abnormality of the CNS

Morphological central nervous system…

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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.