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
Herlitz-Pearson type epidermolysis bullosa MONDO:0009182
epidermolysis bullosa, junctional, Herlitz-Pearson type MONDO:0009182
junctional epidermolysis bullosa, Herlitz type MONDO:0009182
junctional epidermolysis bullosa, generalised severe MONDO:0009182
epidermolysis bullosa, junctional, Herlitz type MONDO:0009182
FANCA MONDO:0009215
GSD type XI MONDO:0009216
GALE deficiency MONDO:0009257
GALE-D MONDO:0009257
inborn error of glutamate-cysteine ligase activity MONDO:0009259
GM1 gangliosidosis type 1 MONDO:0009260
gangliosidosis generalised GM1 type 1 MONDO:0009260
gangliosidosis, generalized GM1, infantile form MONDO:0009260
gangliosidosis generalized GM1 type 1 MONDO:0009260
gangliosidosis generalized GM1 infantile form MONDO:0009260