DISEASES

Disease-gene associations mined from literature

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