Review nomenclature/classification of muscular dystrophy-dystroglycanopathy (type C) diseases

[allenbaron]

DO includes all of the subtypes of muscular dystrophy-dystroglycanopathy type C (OMIM phenotypic series: https://omim.org/phenotypicSeries/PS609308), but only subtypes C8 & C12 are identified as type C. These are direct children of muscular dystrophy-dystroglycanopathy, DOID:0112374. The remaining diseases grouped into this phenotypic series by OMIM are also mostly found in a second phenotypic series (Muscular dystrophy, limb-girdle, autosomal recessive, MIM:PS253600) and currently classified in the DO in accordance with this phenotypic series as types of 'autosomal recessive limb-girdle muscular dystrophy' (DOID:0110274). Subtype C12 (https://www.omim.org/entry/616094) is the only disease that OMIM only has in the muscular dystrophy-dystroglycanopathy type C phenotypic series (may be accidental since it also has "limb-girdle" in its name).

The nomenclature and classification of these diseases should be reviewed to determine if there is a shift from limb-girdle to type C or if these are concurrent naming/grouping systems that should be included in the DO.

Secondary

Additionally, we should review the nomenclature of the type A names to determine if they should continue to have "congenital" in their labels. The type B & C subtypes do not. OMIM's official names for all 3 subtypes don't appear to include congenital (except in parentheses), though their use in descriptions do include "congenital". I think a literature review is warranted to determine the most up-to-date names to use as the labels.