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
HYPOURICEMIA, RENAL, 2; RHUC2	View info
ICF SYNDROME	View info
ICHTHYOSIS BULLOSA OF SIEMENS; IBS	View info
ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM	View info
ICHTHYOSIS PREMATURITY SYNDROME; IPS	View info
ICHTHYOSIS VULGARIS	View info
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10	View info
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11	View info
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1	View info
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A	View info
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B	View info
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6; ARCI6	View info
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR	View info
IDIOPATHIC ACHALASIA	View info
IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME	View info
IMINOGLYCINURIA	View info
IMMUNODEFICIENCY 10; IMD10	View info
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B	View info
IMMUNODEFICIENCY 12; IMD12	View info
IMMUNODEFICIENCY 13; IMD13	View info

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