Human genes for autosomal recessive osteopetrosis 5
Autosomal recessive osteopetrosis 5 [DOID:0110939]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21.
Synonyms: autosomal recessive osteopetrosis 5, DOID:0110939, infantile malignant osteopetrosis 3, OPTB5