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
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5	View info
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6	View info
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7	View info
CORTICAL MALFORMATIONS, OCCIPITAL; OCCM	View info
CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	View info
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY	View info
CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1	View info
COSTELLO SYNDROME; CSTLO	View info
COUMARIN RESISTANCE	View info
COUSIN SYNDROME	View info
COWCHOCK SYNDROME; COWCK	View info
COWDEN SYNDROME 1; CWS1	View info
COWDEN SYNDROME 4; CWS4	View info
COWDEN SYNDROME 5; CWS5	View info
COXOPODOPATELLAR SYNDROME	View info
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD	View info
CRANIODIAPHYSEAL DYSPLASIA; CDD	View info
CRANIOECTODERMAL DYSPLASIA 2; CED2	View info
CRANIOECTODERMAL DYSPLASIA 4; CED4	View info
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR	View info

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