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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