MONDO Find_IDs Find_Terms Annotation
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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
HMG CoA lyase deficiency MONDO:0009520
HL deficiency MONDO:0009520
defect in leucine metabolism MONDO:0009520
Hmgcl deficiency MONDO:0009520
deficiency of hydroxymethylglutaryl-CoA lyase MONDO:0009520
HMGCLD MONDO:0009520
3-hydroxy-3-methylglutaric aciduria MONDO:0009520
HMG-Coa lyase deficiency MONDO:0009520
HMG-CoA lyase deficiency MONDO:0009520
Hydroxymethylglutaric aciduria MONDO:0009520
hydroxymethylglutaryl-CoA lyase deficiency MONDO:0009520
3-hydroxy-3-methylglutaryl-CoA lyase deficiency MONDO:0009520
3-OH 3-Methyl glutaric aciduria MONDO:0009520