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
METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM	View info
METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE	View info
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS	View info
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH	View info
METATROPIC DYSPLASIA	View info
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE	View info
METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	View info
METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; MMSDHD	View info
METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE	View info
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC	View info
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD	View info
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE	View info
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE	View info
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE; MAHCJ	View info
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY	View info
METHYLMALONIC ACIDURIA, cblB TYPE	View info
METHYLMALONYL-CoA EPIMERASE DEFICIENCY	View info
MEVALONIC ACIDURIA; MEVA	View info
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III	View info
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1	View info

105 of 172