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
CATARACT 1, MULTIPLE TYPES; CTRCT1
CATARACT 12, MULTIPLE TYPES; CTRCT12
CATARACT 3, MULTIPLE TYPES; CTRCT3
CATARACT-MICROCORNEA SYNDROME
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS
CATEL-MANZKE SYNDROME; CATMANS
CAUDAL REGRESSION SEQUENCE
CD8 DEFICIENCY, FAMILIAL
CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1
CENTRAL CORE DISEASE OF MUSCLE; CCD
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS
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 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