Autosomal recessive osteopetrosis 1

Definition

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.

Also known as autosomal recessive Albers-Schonberg disease, autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1, autosomal recessive osteopetrosis 1, autosomal recessive osteopetrosis caused by mutation in TCIRG1, autosomal recessive osteopetrosis type 1, infantile malignant osteopetrosis 1, OPTB1, osteopetrosis, autosomal recessive type 1, TCIRG1 autosomal recessive malignant osteopetrosis, TCIRG1 autosomal recessive osteopetrosis — per MONDO

Also identified as

• DOID 0110942 per MONDO
• MESH C564915 per MONDO
• NCIT C167215 per MONDO
• OMIM 259700 per MONDO
• UMLS C1850127 per MONDO

Affected Organs