Disease association ontology term - MONDO:0009815 - autosomal recessive osteopetrosis 1
Term summary
- ID
- MONDO:0009815
- Name
- autosomal recessive osteopetrosis 1
- Ontology or CV name
- Disease association
- Definition
- Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.