Rare diseases · Sign or symptom
Abnormality of the spleen
HP:0001743
What it means
An abnormality of the spleen.
The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system.
Rare diseases that can present with this21
Common30–79%
5Sometimes5–29%
9- 12q14microdeletion syndrome
- 1p36deletion syndrome
- Burkitt lymphoma
- Dextrocardia
- Feingold syndrome
- Holoprosencephaly
- Meacham syndrome
- Melioidosis
and 1 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
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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.