Autosomal recessive limb-girdle muscular dystrophy type 2U

Definition

Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.

Also known as autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD, ISPD autosomal recessive limb-girdle muscular dystrophy, LGMD2U, MDDGC7 — per MONDO

Also identified as

• DOID 0110295 per MONDO
• OMIM 616052 per MONDO
• Orphanet 352479 per MONDO
• UMLS C5190987 per MONDO