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
C6 deficiency, subtotal MONDO:0012908
C6 classic complement early component deficiency MONDO:0012908
skeletal defects, genital hypoplasia, and mental retardation MONDO:0012909
CILD9 MONDO:0012906
familial juvenile hyperuricemic nephropathy type 2 MONDO:0013128
REN-related autosomal dominant tubulointerstitial kidney disease MONDO:0013128
hyperuricemic nephropathy, familial juvenile, 2 MONDO:0013128
REN-associated familial juvenile hyperuricemic nephropathy MONDO:0013128
FJHN type 2 MONDO:0013128
REN familial juvenile hyperuricemic nephropathy MONDO:0013128
hyperuricemic nephropathy, familial juvenile, type 2 MONDO:0013128
SRPS2B MONDO:0013127
HNFJ2 MONDO:0013128
hereditary hypotrichosis with recurrent skin vesicles MONDO:0013136
hypotrichosis and recurrent skin vesicles MONDO:0013136