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autosomal recessive osteopetrosis 2
Summary
- Synonym
-
- OPTB2
- mild autosomal recessive form osteopetrosis
- 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.
- Super Class
- autosomal recessive disease osteopetrosis
External Links
- Disease Ontology
- DOID:0110943
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
