autosomal recessive osteopetrosis 1 (Q32145033)
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An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.
- infantile malignant osteopetrosis 1
- autosomal recessive Albers-Schonberg disease
- OPTB1
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal recessive osteopetrosis 1 |
An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. |
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Statements
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Identifiers
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1 reference