has material basis in germline mutation in CNBP myotonic dystrophy type 2 https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2 https://www.malacards.org/card/myotonic_dystrophy_2 proximal myotonic dystrophy icd11.foundation:1005849639 myotonic dystrophy type 2 OMIM:602668 ICD9:359.2 myotonic dystrophy 2 myotonic myopathy, proximal This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163) DM2 DOID:0050759 ricker disease UMLS:C2931689 Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders. MONDO:0011266 myotonic dystrophy caused by mutation in CNBP dystrophia myotonica type 2 Orphanet:606 PROMM GARD:0009728 MEDGEN:419137 proximal myotonic myopathy CNBP myotonic dystrophy NCIT:C84680 dystrophia myotonica 2 ricker syndrome myotonic dystrophy