lissencephaly and subcortical band heterotopia

monarch-initiative / monarch-disease-ontology-RETIRED

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lissencephaly and subcortical band heterotopia #178

Closed cmungall closed 6 years ago

cmungall commented 7 years ago

img-mesh_d054082

Note the fact kboom chose to make the ordo a subclass of the omim was due to an NTBT call by Orphanet. This is partly justified by the text of the OMIM entry which appears to summarize (a prototype entry), but in fact I believe the OMIM IDs should refer to gene-specific diseases, making the ordo NTBT calls wrong.

cmungall commented 7 years ago

Really this shouldn't be so hard. The genes are

DCX - LISSENCEPHALY, X-LINKED, 1; LISX1 OMIM_ 300067
EML1 - BAND HETEROTOPIA; BH OMIM_600348
PAFAH1B1 - LISSENCEPHALY 1; LIS1 OMIM_607432

we should just override the ordo ntbt calls

mellybelly commented 7 years ago

what is NTBT?

cmungall commented 7 years ago

Start here: #139

nicolevasilevsky commented 7 years ago

@cmungall Do you mean that these two terms should be siblings then?