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
MICROPHTHALMIA, SYNDROMIC 3; MCOPS3	View info
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME; MCSKS	View info
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA; MSPKA	View info
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN	View info
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13	View info
MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1	View info
MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2	View info
MILD CANAVAN DISEASE	View info
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS	View info
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	View info
MIRAGE SYNDROME; MIRAGE	View info
MIRROR MOVEMENTS 1; MRMV1	View info
MISMATCH REPAIR CANCER SYNDROME; MMRCS	View info
MITCHELL-RILEY SYNDROME; MTCHRS	View info
MITOCHONDRIAL COMPLEX I DEFICIENCY	View info
MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY	View info
MITOCHONDRIAL COMPLEX II DEFICIENCY	View info
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2	View info
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3	View info
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4	View info

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