monarch-initiative / monarch-disease-ontology-RETIRED

THIS IS THE OLD REPO: Use this one instead: https://github.com/monarch-initiative/mondo-build
https://github.com/monarch-initiative/mondo-build
17 stars 9 forks source link

5. Subcortical band heterotopia SubClassOf Lissencephaly due to LIS1 mutation #183

Closed nicolevasilevsky closed 7 years ago

nicolevasilevsky commented 7 years ago

I think this relationship may be correct, there are not any details about each disease in the orphanet records, but orphanet cross ref's Subcortical band heterotopia to three OMIM records, one of which is the same record as is cross ref'd for Lissencephaly due to LIS1 mutation. So I think that means Subcortical band heterotopia has all the features of Lissencephaly due to LIS1 mutation plus some additional features (and looks like two more additional genes are involved.)

image

see report

cmungall commented 7 years ago

duplicate #178