Sue Bello

@lschriml I've come across a couple of instances where OMIM IDs have been xrefs for diseases that are 'included entities' in an OMIM record. According to OMIM the included entities...

@lschriml The DO term 'muscular dystrophy-dystroglycanopathy' (DOID:0050588) has multiple OMIM xrefs that are also entered as independent terms but the independent terms are descendants of 'limb-girdle muscular dystrophy' (DOID:11724) and...

Thansks @lschriml !

OMIM:123150 - Jackson-Weiss syndrome I am putting this in but the OMIM record mentions a single case of what appeared to be the same syndrome associated with a second gene....

OMIM:123320 - Creatine phosphokinase, elevated serum - I'm a little unsure of this one, the OMIM record refers to this in the context of other diseases for much of the...

Parentage for congenital leptin deficiency (OMIM:614962). I've put this under autosomal recessive disease. Since leptin is a hormone not an enzyme I don't think this fits under inherited or acquired...

The genetic cause of Laurin-Sandrow syndrome is stated to be a regulatory element of SHH that is located in an intron of LMBR1. I have modified the definition template to...

I contacted OMIM to get the paper prioritized for review. Usually they get back pretty quickly. I don't think anyone has picked this up yet. I would agree that the...

I wonder if we should just create the 'early onset' class to group those with an unusually early onset since typically Alzheimer's is a late-onset disease. Trying to define how...

I like the synonym plan. I can work on that this afternoon. I did a quick check and several of the terms already have early or late onset as synonyms...