MONDO Find_IDs Find_Terms Annotation
manager
language -
license -
created at 2019-07-11 18:15:35 UTC
updated at 2025-12-23 18:38:35 UTC
Diseases and disorders as defined in the MONDO ontology, the version 2025-01-07.
Only the terms under the node "disease" (MONDO_0000001) are included.

All identifiers use the CURIE format with the MONDO: prefix (e.g., MONDO:12345),
which corresponds to the full IRI namespace http://purl.obolibrary.org/obo/MONDO_.
112,359 entries
Label
Id
galactosylceramide Beta-galactosidase deficiency MONDO:0009499
galactosylceramide lipidosis MONDO:0009499
beta galactocerebrosidase deficiency MONDO:0009499
diffuse globoid body sclerosis MONDO:0009499
GALC enzyme deficiency MONDO:0009499
GALC deficiency MONDO:0009499
HMG CoA lyase deficiency MONDO:0009520
HL deficiency MONDO:0009520
defect in leucine metabolism MONDO:0009520
Hmgcl deficiency MONDO:0009520
Berlin syndrome MONDO:0009522
MGA type IV MONDO:0009611
MGCA4 MONDO:0009611
vitamin B12-unresponsive methylmalonic acidemia MONDO:0009612
methylmalonic aciduria, mut(0) type MONDO:0009612