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
MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A	View info
MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B	View info
MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7	View info
MUENKE SYNDROME; MNKES	View info
MUIR-TORRE SYNDROME; MRTES	View info
MULIBREY NANISM	View info
MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO	View info
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD	View info
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1	View info
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2	View info
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3	View info
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A	View info
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B	View info
MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY	View info
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

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