Term Name: autosomal recessive osteopetrosis 2
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 )

Relationships
is a type of: autosomal recessive disease osteopetrosis