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
MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY	View info
MYHRE SYNDROME; MYHRS	View info
MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF	View info
MYOCLONIC-ASTASTIC EPILEPSY	View info
MYOCLONIC-ATONIC EPILEPSY; MAE	View info
MYOCLONUS, FAMILIAL CORTICAL; FCM	View info
MYOCLONUS, INTRACTABLE, NEONATAL; NEIMY	View info
MYOFIBROMATOSIS, INFANTILE, 2; IMF2	View info
MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE	View info
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD	View info
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS; MPXPS	View info
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET; EMARDD	View info
MYOPATHY, CENTRONUCLEAR, 1; CNM1	View info
MYOPATHY, CENTRONUCLEAR, 2; CNM2	View info
MYOPATHY, CENTRONUCLEAR, 4; CNM4	View info
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD	View info
MYOPATHY, DISTAL, 4; MPD4	View info
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT	View info
MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV	View info
MYOPATHY, MYOFIBRILLAR, 1; MFM1	View info

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