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
CENTRIPETALIS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA	View info
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; CAPOS	View info
CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY	View info
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN	View info
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1	View info
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2	View info
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4	View info
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR	View info
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES; CADEDS	View info
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR	View info
CEREBELLOFACIODENTAL SYNDROME; CFDS	View info
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2	View info
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1	View info
CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL	View info
CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2	View info
CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3	View info
CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1	View info
CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2	View info
CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3	View info
CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME	View info

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