Autosomal recessive osteopetrosis 8

Definition

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.

Also known as autosomal recessive malignant osteopetrosis caused by mutation in SNX10, autosomal recessive osteopetrosis caused by mutation in SNX10, autosomal recessive osteopetrosis type 8, OPTB8, osteopetrosis, autosomal recessive type 8, SNX10 autosomal recessive malignant osteopetrosis, SNX10 autosomal recessive osteopetrosis — per MONDO

Also identified as

• DOID 0110940 per MONDO
• NCIT C150556 per MONDO
• OMIM 615085 per MONDO
• UMLS C3554478 per MONDO

Affected Organs