Sue Bello
Looking at the DO in MGI I noticed some odd relations under spinal disease (DOID:0060564) 1. bone structure disease is listed as a child of spinal disease - this is...
OMIM has a phenotypic series for X-lined nonsyndromic Intellectual developmental disorders (PS309530, https://www.omim.org/phenotypicSeries/PS309530) however, many of the descriptions of the disorders include additional medical or behavioral symptoms (see for example...
The term 'adolescence-adult electroclinical syndrome' (DOID:0050705) is currently a direct child of 'absence epilepsy' (DOID:0070309), however, many of the children of 'adolescence-adult electroclinical syndrome' involve forms of epilepsy that do...
Working on splitting out DOID:0050560 (Walker-Warburg syndrome) and DOID:0050588 (muscular dystrophy-dystroglycanopathy) The OMIM IDs xref'ed to these DOIDs and to Fukuyama congenital muscular dystrophy (DOID:0050559) are all part of the...
How should OMIM:114900 carcinoid tumors, intestinal be mapped to DO Note we learned today that information after the comma may be considered non-essential to some disease names. If that were...
seems like this should just be an xref to DOID:10273, ORDO xref is ORDO:871 Familial progressive cardiac conduction defect which is an xref to DOID:0111073 but OMIM record mentions genetic...
Some questionable terms I've come across working on OMIM additions today: OMIM:122700 (requested by most groups) - this is Coumarin resistance I would not consider this a 'disease' I have...
I'm working on the OMIM term glomuvenous malformations (OMIM:138000|ORDO:83454). The Orphanet record has both multiple glomangiomas and glomangiomatosis as synonyms. DO has separate entries for glomangioma (DOID:2436) and glomangiomatosis (DOID:6906)....
Hi Lynn, Debbie Krupke who is a curator for the Mouse Models of Human Cancer database at MGI (formerly MTB) put together a spreadsheet of comments and questions related to...
Working on split of neurofibromatosis (DOID:8712) and I have a couple of questions/issue: 1. https://www.ncbi.nlm.nih.gov/pubmed/28640700 refers to 3 types of NF; 1, 2, and schwannomatosis. Schwannomatosis is also a synonym...