Autosomal recessive osteopetrosis 2

Definition

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.

Also known as autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11, autosomal recessive osteopetrosis caused by mutation in TNFSF11, autosomal recessive osteopetrosis type 2, OPTB2, osteopetrosis, autosomal recessive type 2, TNFSF11 autosomal recessive malignant osteopetrosis, TNFSF11 autosomal recessive osteopetrosis, TNFSF11-related osteopetrosis — per MONDO

Also identified as

• DOID 0110943 per MONDO
• MESH C536059 per MONDO
• OMIM 259710 per MONDO
• UMLS C1850126 per MONDO