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
CORS1 http://purl.obolibrary.org/obo/MONDO_0008944
Joubert syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008944
cerebellooculorenal syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008944
Joubert syndrome 1; JBTS1 http://purl.obolibrary.org/obo/MONDO_0008944
Joubert syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0008944
JBTS1 http://purl.obolibrary.org/obo/MONDO_0008944
INPP5E Joubert syndrome http://purl.obolibrary.org/obo/MONDO_0008944
Joubert syndrome http://purl.obolibrary.org/obo/MONDO_0008944
Cerebellooculorenal syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008944
cerebelloparenchymal disorder 4 http://purl.obolibrary.org/obo/MONDO_0008944
CPD4 http://purl.obolibrary.org/obo/MONDO_0008944
Joubert syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008944
Joubert-Boltshauser syndrome http://purl.obolibrary.org/obo/MONDO_0008944
Joubert syndrome caused by mutation in INPP5E http://purl.obolibrary.org/obo/MONDO_0008944
cerebelloparenchymal disorder IV http://purl.obolibrary.org/obo/MONDO_0008944