Rare diseases · Sign or symptom
Chronic diarrhea
HP:0002028
What it means
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Rare diseases that can present with this44
Very common80–99%
9Common30–79%
16- AA amyloidosis
- Abetalipoproteinemia
- ALG1-CDG
- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Cerebrotendinous xanthomatosis
- Combined immunodeficiency due to ZAP70 deficiency
- Hurler syndrome
- Hypohidrotic ectodermal dysplasia with immunodeficiency
- Microsporidiosis
- Mucopolysaccharidosis type 2
- Neuroblastoma
- Primary intestinal lymphangiectasia
- Refractory celiac disease
- Secondary intestinal lymphangiectasia
- T-B+NK- severe combined immunodeficiency due to JAK3 deficiency
- Wild type ATTR amyloidosis
Sometimes5–29%
16- Acquired hypertrichosis lanuginosa
- Benign recurrent intrahepatic cholestasis
- Chronic diarrhea due to glucoamylase deficiency
- Dubowitz syndrome
- Ectodermal dysplasia-skin fragility syndrome
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- Idiopathic hypereosinophilic syndrome
- Laron syndrome with immunodeficiency
and 8 more in this range
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
Also called: Chronic diarrhoea · Diarrhea, recurrent · Recurrent diarrhea · Recurrent diarrhoea
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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.