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
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2	View info
MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1	View info
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10	View info
MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE; MCPH12	View info
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13	View info
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15	View info
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17	View info
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2	View info
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4	View info
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5	View info
MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7	View info
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE; MCPH9	View info
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1; MCCRP1	View info
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2	View info
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

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