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
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
MYOPATHY, MYOFIBRILLAR, 2; MFM2	View info
MYOPATHY, MYOFIBRILLAR, 4; MFM4	View info
MYOPATHY, MYOFIBRILLAR, 5; MFM5	View info
MYOPATHY, MYOFIBRILLAR, 6; MFM6	View info
MYOPATHY, MYOFIBRILLAR, 8; MFM8	View info
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED	View info
MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB	View info
MYOPATHY, PROXIMAL, AND OPHTHALMOPLEGIA; MYPOP	View info
MYOPATHY, TUBULAR AGGREGATE, 1; TAM1	View info
MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX	View info
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA	View info
MYOPIA 2, AUTOSOMAL DOMINANT; MYP2	View info
MYOPIA 23, AUTOSOMAL RECESSIVE; MYP23	View info
MYOPIA 6; MYP6	View info

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