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autosomal recessive osteopetrosis 7
Summary
- Synonym
-
- OPTB7
- autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
- autosomal recessive osteopetrosis type 7
- 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.
- Super Class
- autosomal recessive disease osteopetrosis
External Links
- Disease Ontology
- DOID:0110946
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
