Term Name: autosomal recessive osteopetrosis 4
Synonyms: infantile malignant osteopetrosis 2, OPTB4
Definition: An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.
Ontology: Human Disease [DOID:0110944]   ( DOID:0110944 )

Relationships
is a type of: autosomal recessive disease osteopetrosis