review of autosomal dominant non-syndromic intellectual disability 7, DOID:0070037

[vjenkinsFB]

Is your request related to a specific disease? Please describe.

autosomal dominant non-syndromic intellectual disability 7, DOID:0070037

Describe the proposed

This disease caused by an autosomal dominant mutation in DYRK1A has a crosslink to OMIM 614104. OMIM cites multiple other symptoms beside intellectual disability, which suggests that the disease is syndromic rather than non-syndromic (I'm working from definitions in PMID:21124998). Would you please take a look at this and update the name and definition? Thank you!

References Besides above, OMIM links to primary sources including this one which specifically calls it syndromic: PMID:23099646

[lschriml]

Thank you for the term review !! We will review and update.

Cheers, Lynn

[sbello]

@lschriml It looks like OMIM has renamed the series https://www.omim.org/phenotypicSeries/PS156200 this used to be non-syndromic but this has been dropped from the series name. I ran the OMIM IDs associated with this series through MouseMine to find the associated DO terms and this is a mix of non-syndromic and syndromic terms sereisPS156200.txt

[lschriml]

Thank you @sbello !!

[lschriml]

@vjenkinsFB -- the definition and classification are revised. @sbello - I have restructured and updated the intellectual disability branch. AD is done, I am adding terms to AR

Cheers, Lynn

[lschriml]

To do: add additional AR terms.

[lschriml]

autosomal dominant intellectual developmental disorder 7 is DOID:0070037

I have added all of the remaining autosomal recessive intellectual developmental disorder subtypes.

[lschriml]

autosomal dominant intellectual developmental disorder 7 is DOID:0070037