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Autosomal recessive osteopetrosis 3
rareOsteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
- Identifiers
- MONDO:0009818 OMIM:259730Orphanet:2785
- Causal genes
- CA2
- Also known as
- autosomal recessive osteopetrosis type 3 · Autosomal Recessive osteopetrosis, type 3 · CA2 osteopetrosis (disease) · carbonic anhydrase 2 deficiency · carbonic anhydrase II deficiency
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