Rare diseases · Sign or symptom
Cholestatic liver disease
HP:0002611
Rare diseases that can present with this13
Common30–79%
4Sometimes5–29%
7- Congenital bile acid synthesis defect type 4
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
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
Cholestatic liver disease
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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.