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
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2	View info
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA	View info
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP	View info
MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP	View info
MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME	View info
MICROCEPHALY-MICROMELIA SYNDROME; MIMIS	View info
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS; MMCAT	View info
MICROHYDRANENCEPHALY; MHAC	View info
MICROPHTHALMIA WITH LIMB ANOMALIES; MLA	View info
MICROPHTHALMIA, ISOLATED 1; MCOP1	View info
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7; MCOPCB7	View info
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9	View info
MICROPHTHALMIA, SYNDROMIC 12; MCOPS12	View info
MICROPHTHALMIA, SYNDROMIC 2; MCOPS2	View info
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

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