| Term Name: | autosomal recessive osteopetrosis 2 |
|---|---|
| Synonyms: | mild autosomal recessive form osteopetrosis, OPTB2, osteoclast-poor osteopetrosis |
| Definition: | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. |
| Ontology: | Human Disease [DOID:0110943] ( DOID:0110943 ) |