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Familial hypocalciuric hypercalcemia 3
rareAny familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.
- Identifiers
- MONDO:0010926 OMIM:600740Orphanet:101050
- Causal genes
- AP2S1
- Also known as
- AP2S1 familial hypocalciuric hypercalcemia · familial benign hypercalcemia, Oklahoma variant · familial hypocalciuric hypercalcemia caused by mutation in AP2S1 · familial hypocalciuric hypercalcemia type 3 · FBH3
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