MONDO Find_IDs Find_Terms Annotation
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created at 2019-07-11 18:15:35 UTC
updated at 2020-12-23 10:47:34 UTC
diseases or disorders as defined in MONDO disease ontology (the version released on 2019-05-28). The terms are sourced from BioPortal on July 12, 2019.
121,242 entries
Label
Id
Coq10 deficiency, primary, 1 http://purl.obolibrary.org/obo/MONDO_0011829
coenzyme Q deficiency 1 http://purl.obolibrary.org/obo/MONDO_0011829
CoQ deficiency 1 http://purl.obolibrary.org/obo/MONDO_0011829
COQ10D1 http://purl.obolibrary.org/obo/MONDO_0011829
coenzyme Q10 deficiency, primary, 1 http://purl.obolibrary.org/obo/MONDO_0011829
coenzyme Q10 deficiency caused by mutation in COQ2 http://purl.obolibrary.org/obo/MONDO_0011829
coenzyme Q10 deficiency, primary, 1; COQ10D1 http://purl.obolibrary.org/obo/MONDO_0011829
COQ2 coenzyme Q10 deficiency http://purl.obolibrary.org/obo/MONDO_0011829
coenzyme Q10 deficiency, primary, type 1 http://purl.obolibrary.org/obo/MONDO_0011829
ubiquinone deficiency 1 http://purl.obolibrary.org/obo/MONDO_0011829
lissencephaly due to LIS1 mutation http://purl.obolibrary.org/obo/MONDO_0011830
subcortical band heterotopia http://purl.obolibrary.org/obo/MONDO_0011830
lissencephaly, classic http://purl.obolibrary.org/obo/MONDO_0011830
lissencephaly 1; LIS1 http://purl.obolibrary.org/obo/MONDO_0011830
lissencephaly sequence, isolated http://purl.obolibrary.org/obo/MONDO_0011830