Rare diseases · Sign or symptom
Osteomalacia
Softening of the bones
HP:0002749
What it means
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Rare diseases that can present with this22
Very common80–99%
5Common30–79%
9- Autosomal dominant hypophosphatemic rickets
- Cystinosis
- Familial hypocalciuric hypercalcemia
- Generalized arterial calcification of infancy
- Hereditary hypophosphatemic rickets with hypercalciuria
- Occipital horn syndrome
- Oculocerebrorenal syndrome of Lowe
- Oncogenic osteomalacia
- Primary Fanconi renotubular syndrome
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.