Autosomal recessive osteopetrosis 5

Definition

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.

Also known as autosomal recessive osteopetrosis 5, autosomal recessive osteopetrosis type 5, OPTB5, osteopetrosis (disease) caused by mutation in OSTM1, osteopetrosis, autosomal recessive type 5, OSTM1 osteopetrosis (disease) — per MONDO

Also identified as

• DOID 0110939 per MONDO
• MESH C566883 per MONDO
• OMIM 259720 per MONDO
• UMLS C1968603 per MONDO