Rare diseases · Sign or symptom
Abetalipoproteinemia
HP:0008181
What it means
An absence of low-density lipoprotein cholesterol in the blood.
Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol.
Rare diseases that can present with this2
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
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis 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.