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
SECKEL SYNDROME 7; SCKL7	View info
SECKEL SYNDROME 8; SCKL8	View info
SECKEL SYNDROME 9; SCKL9	View info
SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	View info
SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME	View info
SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2	View info
SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3	View info
SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5	View info
SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1	View info
SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2	View info
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS	View info
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME; SSMS	View info
SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES	View info
SENGERS SYNDROME	View info
SENIOR-LOKEN SYNDROME 5; SLSN5	View info
SENIOR-LOKEN SYNDROME 8; SLSN8	View info
SENIOR-LOKEN SYNDROME 9; SLSN9	View info
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO	View info
SEPTO-OPTIC DYSPLASIA SPECTRUM	View info
SEPTOOPTIC DYSPLASIA	View info

147 of 172