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
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL	View info
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL	View info
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM	View info
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA	View info
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA	View info
NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS; NEDMHM	View info
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH	View info
NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS	View info
NEUROECTODERMAL-ENDOCRINE SYNDROME	View info
NEUROENDOCRINE TUMOR OF STOMACH	View info
NEUROFIBROMATOSIS, TYPE I; NF1	View info
NEUROFIBROMATOSIS, TYPE II; NF2	View info
NEUROFIBROMATOSIS-NOONAN SYNDROME	View info
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD	View info
NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN	View info
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I; HMN1	View info
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; HMN5A	View info
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B	View info
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A	View info
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B	View info

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