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
OI, type 11 MONDO:0012592
osteogenesis imperfecta, type XI MONDO:0012592
FKBP10 osteogenesis imperfecta MONDO:0012592
osteogenesis imperfecta type XI MONDO:0012592
osteogenesis imperfecta caused by mutation in FKBP10 MONDO:0012592
brain-lung-thyroid syndrome MONDO:0012593
choreoathetosis-hypothyroidism-neonatal respiratory distress MONDO:0012593
CAHTP MONDO:0012593
BLT syndrome MONDO:0012593
complement factor I deficiency MONDO:0012594
complement Factor 1 deficiency MONDO:0012594
immunodeficiency with factor I anomaly MONDO:0012594
COG1-CDG MONDO:0012637
CDG-IIg MONDO:0012637
carbohydrate deficient glycoprotein syndrome type IIg MONDO:0012637