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
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR
CEREBELLOFACIODENTAL SYNDROME; CFDS
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1
CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL
CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1
CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1; CRMCC1
CEREBROTENDINOUS XANTHOMATOSIS; CTX
CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11
CEROID LIPOFUSCINOSIS, NEURONAL, 13; CLN13
CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2
CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5
CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6
CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT