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Table 1 Areas of phenotypes identified

From: CSI-OMIM - Clinical Synopsis Search in OMIM

Area Name

Area#

#Distinct phrases

#Clusters identified

Avg Similar Phrases Cluster Size

% Phrases clustered in area

Syndrome names

1

4,801

278

3.45

19.9

Abdomen/gi

2

707

33

2.3

10.1

Respiratory

3

546

39

2.17

15.6

Gu/renal

4

985

44

2.25

10.0

Gu/genitalia

5

975

44

2.25

10.0

Cardiovascular

6

808

38

2.13

10.0

Muscle

7

1143

68

2.98

17.8

Endo

8

344

16

2.25

10.4

Neuro

9

4.721

247

2.68

14.0

Oncology

10

891

21

2.62

6.17

Heme

11

576

16

2.75

7.6

Immune

12

542

19

2.05

7.2

Eyes

13

2,265

152

2.5

16.8

Face

14

3,927

283

2.56

18.4

Teeth

15

3,542

258

2.48

18.1

Neck

16

3,490

252

2.49

17.9

Head

17

4,196

281

2.51

16.8

Limb

18

4,522

283

3.15

19.7

Skel

19

3,936

247

3.02

18.9

Chest

20

4,307

273

3.03

19.2

Growth

21

497

37

4.24

31.6

Nails

22

1,617

106

2.41

15.8

Skin

23

2,098

140

2.42

16.2

Hair

24

1,701

116

2.41

16.5

Lab

25

3,553

106

2.9

8.6

Misc

26

4,021

Was not clustered

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