Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Definition

Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.

Also known as autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43, Emery-Dreifuss muscular dystrophy 7, autosomal dominant, TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy — per MONDO

Also identified as

• DOID 0070252 per MONDO
• OMIM 614302 per MONDO
• UMLS C3553060 per MONDO