Term Name: autosomal recessive osteopetrosis 7
Synonyms: autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia, autosomal recessive osteopetrosis type 7, OPTB7, osteoclast-poor osteopetrosis with hypogammaglobulinemia, osteopetrosis-hypogammaglobulinemia syndrome
Definition: An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.
Ontology: Human Disease [DOID:0110946]   ( DOID:0110946 )

Relationships
is a type of: autosomal recessive disease osteopetrosis