Term Name: | autosomal recessive osteopetrosis 2 |
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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 ) |