Rare diseases · Sign or symptom
Joint swelling
HP:0001386
Rare diseases that can present with this39
Very common80–99%
16- Acromegaly
- Adult-onset Still disease
- Alkaptonuria
- Blau syndrome
- Familial afibrinogenemia
- Familial calcium pyrophosphate deposition
- Farber disease
- Hemophilia A
- Intermittent hydrarthrosis
- Osteochondritis dissecans
- Progressive pseudorheumatoid dysplasia
- Pseudoleprechaunism syndrome, Patterson type
- Reactive arthritis
- Somatomammotropinoma
- Systemic-onset juvenile idiopathic arthritis
- Wilson disease
Common30–79%
18- Chikungunya
- Cranio-osteoarthropathy
- Erdheim-Chester disease
- Hereditary angioedema with C1Inh deficiency
- Lyme disease
- Mixed connective tissue disease
- Oculocerebrorenal syndrome of Lowe
- Osteosarcoma
- Pachydermoperiostosis
- Panner disease
- Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
- Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
- Sarcoidosis
- Severe hemophilia A
- Sinding-Larsen-Johansson disease
- Spondyloepiphyseal dysplasia tarda
- Systemic sclerosis
- Tenosynovial giant cell tumor
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
Joint swelling
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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.