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
telomeric 22Q13 monosomy syndrome MONDO:0011652
chromosome 22Q13.3 deletion syndrome MONDO:0011652
deletion 22q13.3 syndrome MONDO:0011652
22q13 deletion MONDO:0011652
Phelan-McDermid syndrome MONDO:0011652
monosomy type 22q13 MONDO:0011652
monosomy 22q13 MONDO:0011652
22q13.3 deletion syndrome MONDO:0011652
Phelan McDermid syndrome MONDO:0011652
PHMDS MONDO:0011652