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Table 10 Disease mappings across multiple disease resources

From: An integrative knowledge graph for rare diseases, derived from the Genetic and Rare Diseases Information Center (GARD)

  GARD Orphanet MONDO OMIM NORD MeSH NCI-ta DOb GHR MedGen
GARD 6073 4198 5698 3481 1166 3914 1442 2920 860 4733
Orphanet 4260 38,573 8670 4475 672 3618 1476 3619 628 6726
MONDO 6613 11,612 23,560 8954 1683 8697 3549 11,678 1262 14,652
OMIM 4824 7445 11,655 13,605 1089 8530 2771 6575 869 13,599
NORD 1065 649 1190 725 1281 959 647 826 382 1070
MeSH 3836 3328 7935 5872 1027 8937 2147 3526 860 8935
NCI-t 1506 1471 3483 1722 728 2523 5487 2588 509 4642
DO 2925 4403 9987 4358 915 3771 2401 13,210 737 6782
GHR 852 628 1138 566 383 899 499 736 1308 1069
MedGen 6600 10,717 18,004 11,067 1678 12,239 5041 10,503 1251 52,448
  1. a NCI-t: NCI Thesaurus; b Disease Ontology
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Journal of Biomedical Semantics

ISSN: 2041-1480