Table 3 Distribution of RD registries according to disease category

Rare bone diseases

5

(2.3)

Rare cancers and tumors

11

(5)

Rare connective tissue and musculoskeletal diseases

2

(0.9)

Rare craniofacial anomalies and ENT (ear, nose and throat) disorders

1

(0.5)

Rare endocrine diseases

4

(1.8)

Rare eye diseases

6

(2.7)

Rare gastrointestinal diseases

3

(1.4)

Rare hematological diseases

25

(11.3)

Rare hepatic diseases

5

(2.3)

Rare hereditary metabolic disorders

16

(7.2)

Rare immunological and auto-inflammatory diseases

10

(4.5)

Rare malformations and developmental anomalies and rare intellectual disabilities

17

(7.7)

Rare multi-systemic vascular diseases

3

(1.4)

Rare neurological diseases

38

(17.1)

Rare neuromuscular diseases

31

(14)

Rare pulmonary diseases

21

(9.5)

Rare renal diseases

18

(8.1)

Rare skin disorders

1

(0.5)

Rare urogenital diseases

1

(0.5)

Others

4

(1.8)