Autosomal recessive osteopetrosis 7

Definition

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.

Also known as autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia, autosomal recessive osteopetrosis type 7, OPTB7, osteopetrosis (disease) caused by mutation in TNFRSF11A, osteopetrosis-hypogammaglobulinemia syndrome, osteopetrosis, autosomal recessive type 7, TNFRSF11A osteopetrosis (disease) — per MONDO

Also identified as

• DOID 0110946 per MONDO
• MESH C567354 per MONDO
• OMIM 612301 per MONDO
• Orphanet 178389 per MONDO
• UMLS C2676766 per MONDO