autosomal recessive osteopetrosis 3 (Q32145020)
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osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21
- autosomal recessive osteopetrosis 3 with renal tubular acidosis
- marble brain disease
- OPTB3
- osteopetrosis with renal tubular acidosis
- Guibaud-Vainsel syndrome
- carbonic anhydrase II deficiency
- carbonic anhydrase 2 deficiency
- Combined proximal and distal renal tubular acidosis
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal recessive osteopetrosis 3 |
osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21 |
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