Rare diseases · Sign or symptom
Bone pain
HP:0002653
What it means
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Rare diseases that can present with this69
Very common80–99%
29- Albers-Schönberg osteopetrosis
- Aromatase deficiency
- Autosomal recessive hypophosphatemic rickets
- Autosomal recessive malignant osteopetrosis
- Blue rubber bleb nevus syndrome
- Camurati-Engelmann disease
- Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- Cyclic neutropenia
- Dysplasia epiphysealis hemimelica
- Erdheim-Chester disease
- Familial tumoral calcinosis
- Gaucher disease type 1
- Hypocalcemic vitamin D-dependent rickets
- Hypocalcemic vitamin D-resistant rickets
- Idiopathic juvenile osteoporosis
- Kienbock disease
- Langerhans cell histiocytosis
- Majeed syndrome
- Melorheostosis
- Metachondromatosis
- Nasu-Hakola disease
- Pachydermoperiostosis
- Progressive osseous heteroplasia
- SAPHO syndrome
- Schnitzler syndrome
- Spastic paraplegia-Paget disease of bone syndrome
- Spinal arteriovenous metameric syndrome
- Trichorhinophalangeal syndrome type 2
- Wilson disease
Common30–79%
23- Adamantinoma
- Aggressive systemic mastocytosis
- Autosomal dominant hypophosphatemic rickets
- Dent disease
- Fibrous dysplasia of bone
- Gaucher disease
- Gaucher disease type 3
- Gorham-Stout disease
- Hajdu-Cheney syndrome
- Hereditary hypophosphatemic rickets with hypercalciuria
- Hypophosphatasia
- Maffucci syndrome
- Mucolipidosis type III alpha/beta
- Multiple myeloma
- Ollier disease
- Oncogenic osteomalacia
- Osteogenesis imperfecta
- Primary Fanconi renotubular syndrome
- Primary hyperoxaluria
- Secondary non-traumatic avascular necrosis
- Solitary bone cyst
- Stickler syndrome
- X-linked hypophosphatemia
Sometimes5–29%
17- Acute promyelocytic leukemia
- Cholestasis-lymphedema syndrome
- Classic Hodgkin lymphoma
- Congenital alpha2-antiplasmin deficiency
- Dermatitis herpetiformis
- Distal renal tubular acidosis
- Familial papillary or follicular thyroid carcinoma
- Hyperparathyroidism-jaw tumor syndrome
and 9 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, and Orphanet separately records 1 disease where this sign is specifically absent. 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.