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
MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB	View info
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; JDSCD	View info
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1	View info
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2	View info
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3	View info
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4	View info
MULTIPLE OSTEOCHONDROMAS	View info
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS	View info
MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS	View info
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE	View info
MULTIPLE SULFATASE DEFICIENCY; MSD	View info
MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1	View info
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1	View info
MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE	View info
MULTIPLE SYSTEM ATROPHY, PARKINSONIAN TYPE	View info
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME	View info
MUSCLE-EYE-BRAIN DISEASE	View info
MUSCULAR DYSTROPHY, BECKER TYPE; BMD	View info
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A	View info
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	View info

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