Table 3 Distribution of RD registries according to disease category

From: The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

RD registries by disease categorya No (%)
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)
  1. aAddendum to EUCERD Recommendations of January 2013