Table 4 Number of citations retrieved and precision for each query, by diseases

3M syndrome

SC

38

5

31

1

0.4

0.4

Autosomal recessive hypohidrotic ectodermal dysplasia

D

25

21

12

0.8

0.4

0.8

Generalized epilepsy - paroxysmal dyskinesia

SC

0

18

6

–

0.5

0.17

Silent sinus syndrome

–

107

2

3

1

1

0.67

Toluene embryopathy

SC

8

39

0

1

0.2

–

Familial drusen

SC

67

54

9

1

0.1

0.78

Autoimmune lymphoproliferative syndrome

D

176

5

1800

1

1

0

Diphtheria

D

4419

0

13,149

1

–

0.6

Hypomandibular faciocranial dysostosis

SC

6

2

0

0.83

1

–

Retroperitoneal fibrosis

D

1986

0

711

1

–

0.6

Epstein syndrome

SC

41

0

0

1

–

–

Oculopharyngeal muscular dystrophy

D

291

31

129

0.9

1

0.6

Ring chromosome 19

SC

6

4

2

1

0.75

1

Nephropathy - deafness - hyperparathyroidism

SC

0

1

0

–

1

–

Greenberg dysplasia

SC

7

4

6

1

1

0.83

Menkes disease

D

968

0

47,026

1

–

0

Mikati-Najjar-Sahli syndrome

–

0

1

0

–

1

–

Genochondromatosis

SC

5

0

0

1

–

–

Noonan syndrome

D

1483

0

258

0.8

–

0.5

Carney complex

D

248

21

299

0.9

1

0.7

Blount disease

SC

296

0

6

0.5

–

1

Oculocerebrofacial syndrome, Kaufman type

SC

5

0

0

1

–

–

Wilson disease

D

5266

0

1231

1

–

0.8

Adult Still’s disease

D

1129

0

202

1

–

0.8

Esophageal atresia

D

2999

75

479

0.9

1

0.6

Congenital nephrotic syndrome, Finnish type

C

8

239

43

0.88

0.8

0.1

Thiamine-responsive megaloblastic anemia syndrome

SC

69

34

39

1

0.6

0.1

Hereditary myoclonus - progressive distal muscular atrophy

SC

0

2

0

–

0.5

–

Dentatorubral-pallidoluysian atrophy

C

361

171

215

0.9

0

0.6

Neuronal ceroid lipofuscinosis

D

1371

0

1379

1

–

0.5

Macro average precision

0.81

0.44

0.41

Micro average precision

0.94

0.61

0.52