Questions from OMIM priority additions 8/23/19

[sbello]

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 noted that this should be skipped. This is not currently on the exclude spreadsheet. Possibly this could be cross-referenced in the symptom ontology?

[sbello]

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. As this was a single record, the associations was referred to as either appeared or considered to be the same disease and GARD does not mention the second gene I left the second gene out of the definition.

[sbello]

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 record but GHR represents this as a stand alone disorder in some cases. So, I'm inclined to enter this one. Do you agree? Also the gene associated with this in OMIM is stated to be associated in some cases.

[sbello]

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 metabolic disease disease. Any suggestions for a better parent?

[sbello]

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 specify the type of mutation: "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (<80kb) duplications in a SHH regulatory element located in intron 5 of LMBR1 on chromosome 7q36.3." Orphanet has this under dysostosis so I went with this as a parent. Note there is a separate disease that also involves duplication of the regulatory element but the duplications are >80 kb. I'm assuming this would also fall under genetic disease but would you want to modify the standard relationship used for this? Or is it acceptable to use the standard autosomal dominant inheritance subclass relationship? I think it should be okay to use this but wanted to double check.

[lschriml]

Some questionable terms I've come across working on OMIM additions today: OMIM:122700 (requested by most groups) - this is Coumarin resistance -->> Agreed, this is a phenotype, not a disease, lets add this to the exclusion list see: https://ghr.nlm.nih.gov/condition/warfarin-resistance

OMIM:123150 - Jackson-Weiss syndrome --->> agreed

OMIM:123320 - Creatine phosphokinase, elevated serum --->>. agree, add the disease term, as a child of amino acid metabolic disorder

congenital leptin deficiency (OMIM:614962) --> I would classify this term as a child of 'connective tissue disorder' Leptin is produced primarily in the adipocytes of white adipose tissue

--> I am still looking at : Laurin-Sandrow syndrome More tomorrow. Cheers, Lynn

[lschriml]

For Laurin-Sandrow syndrome AD inheritance is OK I would move this term to Syndrome, then add the logical defs: for anatomy and inheritance.

Cheers, Lynn

[lschriml]

Laurin-Sandrow syndrome - done