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 ) |