Term Name: autosomal recessive osteopetrosis 8
Synonyms: OPTB8
Definition: An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15.
Ontology: Human Disease [DOID:0110940]   ( DOID:0110940 )

Relationships
is a type of: autosomal recessive disease osteopetrosis