Table 1 Period prevalence (2013–2016) of 33 rare diseases in Shanghai residents

1

Severe congenital neutropenia [19]

D70.x00

42,738

Yes

3703

2.57E−04

257

25.7

2

Congenital hyper-insulinemic hypoglycemia [20]

E16.103

657

Yes

3337

2.32E−04

232

23.2

3

Hemophilia [21]

D66.x01

D66.x02

D67.x01

448

Yes

931

6.46E−05

64.6

6.46

4

Idiopathic pulmonary arterial hypertension [22]

I27.000

422

Yes

900

6.25E−05

62.5

6.25

5

Hepatolenticular degeneration [23]

E83.001

905

Yes

531

3.69E−05

36.9

3.69

6

Gaucher's disease [24]

E75.201

355

Yes

323

2.24E−05

22.4

0.224

7

Glycogen storage diseases [25]

E74.000

79,201

Yes

218

1.51E−05

15.1

1.51

8

Congenital adrenal hyperplasia [26]

E25.004

418

Yes

196

1.36E−05

13.6

1.36

9

Hereditary epidermolysis bullosa [27]

Q81.900

79,361

Yes

85

5.90E−06

5.9

0.59

10

Maple syrup urine disease [28]

E71.001

511

Yes

57

3.96E−06

3.96

0.396

11

Osteogenesis imperfecta [29]

Q78.000

666

Yes

54

3.75E−06

3.75

0.375

12

Prader–Willi syndrome [30]

Q87.106

739

Yes

33

2.29E−06

2.29

0.229

13

Diamond–Blackfan anemia [31]

D61.001

124

Yes

28

1.94E−06

1.94

0.194

14

Fabry disease [32]

E75.205

324

Yes

17

1.18E−06

1.18

0.118

15

Niemann–Pick disease [33, 34]

E75.203

77,292(A); 77,293(B);646(C)

Yes

17

1.18E−06

1.18

0.118

16

Fanconi anemia [35]

E72.002

84

Yes

16

1.11E−06

1.11

0.111

17

Phenylketonuria [36]

E70.000

716

Yes

14

9.72E−07

0.972

0.0972

18

Methylmalonic acidemia [37]

E71.102

293,355

Yes

8

5.55E−07

0.555

0.0555

19

Laron syndrome [38]

E34.304

633

Yes

7

4.86E−07

0.486

4.86

20

X-linked lymphoproliferative disease [39]

D82.301

2442

Yes

5

3.47E−07

0.347

0.0347

21

Atypical hemolytic uremic syndrome [40]

D59.301

2134

Yes

4

2.78E−07

0.278

0.0278

22

Propionic academia [41]

E71.101

35

Yes

4

2.78E−07

0.278

0.0278

23

Wiskott–Aldrich syndrome [42]

D82.000

906

Yes

4

2.78E−07

0.278

0.0278

24

Hypophosphatasia [43]

E83.306

436

Yes

3

2.08E−07

0.208

0.0208

25

Biotinidase deficiency [44]

D81.801

79,241

Yes

1

6.94E−08

0.0694

0.00694

26

Primary carnitine deficiency [45]

E71.302

158

No

1

6.94E−08

0.0694

0.00694

27

Citrullinemia [46]

E72.202

187

Yes

0

n/a

n/a

n/a

28

Galactosemia [47]

E74.201

352

Yes

0

n/a

n/a

n/a

29

Glutaric acidemia I [48]

E72.302

25

Yes

0

n/a

n/a

n/a

30

Hypophosphatemic rickets [49]

E83.308

437

Yes

0

n/a

n/a

n/a

31

Mucopolysaccharidoses [50]

E76.000

79,213

Yes

0

n/a

n/a

n/a

32

Noonan syndrome[51]

Q87.105

648

Yes

0

n/a

n/a

n/a

33

Silver–Russell syndrome [52]

Q87.100

813

Yes

0

n/a

n/a

n/a

34

Tyrosinemia [53]

P74.501

3402

Yes

0

n/a

n/a

n/a