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
absence of ulna and fibula with severe limb deficiency MONDO:0010164
Teebi Naguib Al Awadi syndrome MONDO:0010164
Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome MONDO:0010164
aplasia/hypoplasia of limbs and pelvis MONDO:0010164
severe limb deficit MONDO:0010164
AARRS MONDO:0010164
bilateral ulnar hypoplasia and mental retardation MONDO:0010165
ulnar agenesis and endocardial fibroelastosis MONDO:0010166
urocanic aciduria MONDO:0010167
urocanase deficiency MONDO:0010167
UROCD MONDO:0010167
urocanic aciduria (disease) MONDO:0010167
encephalopathy due to urocanase deficiency MONDO:0010167
Usher syndrome type 1 MONDO:0010168
USHER syndrome, type I MONDO:0010168