Term Name: autosomal recessive osteopetrosis 5
Synonyms: infantile malignant osteopetrosis 3, OPTB5
Definition: An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21.
Ontology: Human Disease [DOID:0110939]   ( DOID:0110939 )

Relationships
is a type of: autosomal recessive disease osteopetrosis