The patient phenotype of UDP2717 was expected to match the Arap3tm1.2Sve mouse phenotype in Exomiser

[obophenotype-user]

Originally reported on Google Code with ID 131

What steps will reproduce the problem?
Enter UDP_2717's phenotype into Exomiser v4.0.1 (but any version will work) with recessive
deleterious variants in the ARAP3 gene and set the html ouput flag

What is the expected output? What do you see instead?
Expected the output to be a strong match between the patient phenotype and the ARAP3
mutant due to cardiovascular phenotypes. The only terms that matched were fairly general
non-cardiovascular terms.

What version of the product are you using? On what operating system?

Please provide any additional information below.
Attached is a list of all of UDP2717's terms, with the cardiovascular primary cardiovascular
terms mark with ones in the primary cardiovascular column, and the cardiovascular MP
terms from the Arap3tm1.2Sve mouse Dr. Manfred Boehm and I thought should match due
to reasons stronger than the two terms being cardiovascular. Also attached is the Exomiser
4.0.1 html output file.

Reported by wpbone@smcm.edu on 2015-04-25 18:51:26

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• _Attachment: UDP_2717_HPO_expected_ARAP3_matches.csv_
• _Attachment: UDP_2717_NISC_2__REC_list3.exmz_ready.html_exmz_out.html_

[drseb]

this should be tested with phenogrid again.