Autosomal recessive osteopetrosis 6

Definition

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.

Also known as autosomal recessive intermediate osteopetrosis, autosomal recessive osteopetrosis type 6, OPTB6, osteopetrosis (disease) caused by mutation in PLEKHM1, osteopetrosis, autosomal recessive type 6, PLEKHM1 osteopetrosis (disease) — per MONDO

Also identified as

• DOID 0110945 per MONDO
• MESH C566931 per MONDO
• OMIM 611497 per MONDO
• Orphanet 210110 per MONDO
• UMLS C1969093 per MONDO