Sue Bello

From https://www.ncbi.nlm.nih.gov/pubmed/29067961: Alpha-DG-RD is a growing group of muscular dystrophies with a reduction in α-DG's ligand-binding capacity resulting from its aberrant O-glycosylation. It has clinical and genetic heterogeneity. The conditions...

I think we need to retain the entries for Walker-Warburg syndrome and muscle-eye-brain disease as additional classes under 'congenital muscular dystrophy-dystroglycanopathy type A' as these represent grouping of similar phenotypes...

see also #720

Hi Lynn, The list of obsolete OMIM IDs in DO is getting fairly long (18 OMIM IDs) you might want to take a look if you have a few minutes...

Spreadsheet https://docs.google.com/spreadsheets/d/1hN9KoB3UgfTXS9N4U-w-JTHQv1jlFyKH-wol1W1MmZA/edit?usp=sharing

@lschriml I'm noticing some OMIM IDs that appear to have been removed from the DO file (comparing the version of DO on MGI to the doid-edit.owl file) See for example...

These appear to have disappeared from the file completely. There is no child term of Parkinson that these are attached to.

New spreadsheet of OMIM IDs that are xref's for more than one DO term https://docs.google.com/spreadsheets/d/1fXY2QsspLGa1DCsKWvxjNkQwuMds_lR7alKLoWrKE5M/edit?usp=sharing From a new MGI QC report

The OMIM phenoseries OMIM:PS151660 is currently an xref to lipoatrophic diabetes mellitus and not to familial partial lipodystrophy but the series is 'Lipodystrophy, familial partial' and 'LIPOATROPHIC DIABETES' is a...

@lschriml OMIM:137400 We discussed this with the OMIM team the last time we met and the record has now been updated to indicate that this term in OMIM is specifically...