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 AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3	View info
MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR	View info
MICROCEPHALY, AMISH TYPE; MCPHA	View info
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS	View info
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA	View info
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ	View info
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

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