Rare diseases

Rare diseases are among the hardest to diagnose. We believe medical doctors would benefit from an organised list of disorders from the disparate organisations and medical resources available. In the same way NORD and Eurodis provide information and support for patients, we collaborate with and provide information for health researchers and professionals. From here you can browse orphan, genetic or rare disorders along with summary statistics and links to further information.

Rare Diseases by name

Name
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH	View info
SHORT SYNDROME	View info
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11	View info
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13	View info
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14	View info
SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2	View info
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3	View info
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5	View info
SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6	View info
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7	View info
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8	View info
SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9	View info
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS	View info
SHWACHMAN-DIAMOND SYNDROME; SDS	View info
SIALIDOSIS TYPE 1	View info
SIALURIA	View info
SICKLE CELL ANEMIA	View info
SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD	View info
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD	View info
SIFRIM-HITZ-WEISS SYNDROME; SIHIWES	View info

149 of 172