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
CENTRAL CORE DISEASE OF MUSCLE; CCD
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS
CENTRIPETALIS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; CAPOS
CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2
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
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3