Autosomal recessive osteopetrosis 4

Definition

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.

Also known as autosomal recessive malignant osteopetrosis caused by mutation in CLCN7, autosomal recessive osteopetrosis caused by mutation in CLCN7, autosomal recessive osteopetrosis type 4, CLCN7 autosomal recessive malignant osteopetrosis, CLCN7 autosomal recessive osteopetrosis, CLCN7-related osteopetrosis, OPTB4, osteopetrosis, autosomal recessive type 4 — per MONDO

Also identified as

• DOID 0110944 per MONDO
• MESH C566933 per MONDO
• OMIM 611490 per MONDO
• UMLS C1969106 per MONDO