Rare diseases · Sign or symptom
Hypophosphatemia
Low blood phosphate level
HP:0002148
What it means
The concentration of phosphate ion in the blood circulation is below the lower limit of normal.
Rare diseases that can present with this24
Very common80–99%
12- Autosomal dominant hypophosphatemic rickets
- Cystinosis
- Familial isolated hyperparathyroidism
- Fanconi-Bickel syndrome
- Hereditary hypophosphatemic rickets with hypercalciuria
- Hyperparathyroidism-jaw tumor syndrome
- Hypocalcemic vitamin D-dependent rickets
- Hypocalcemic vitamin D-resistant rickets
- Infantile nephropathic cystinosis
- Oncogenic osteomalacia
- Parathyroid carcinoma
- X-linked hypophosphatemia
Common30–79%
4Sometimes5–29%
7The 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: Decreased phosphate ion concentration · Decreased phosphate ion level · Decreased phosphate ion level in blood · Hypophosphataemia · Reduced phosphate ion concentration · Reduced phosphate ion level · Reduced phosphate ion level in blood
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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.