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
ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	View info
ADENYLOSUCCINASE DEFICIENCY; ADSLD	View info
ADERMATOGLYPHIA; ADERM	View info
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1	View info
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY	View info
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	View info
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY	View info
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	View info
ADRENAL HYPOPLASIA, CONGENITAL; AHC	View info
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE	View info
ADULT SYNDROME	View info
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2; FASPS2	View info
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1	View info
AGAMMAGLOBULINEMIA, X-LINKED; XLA	View info
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN	View info
AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME	View info
AGNATHIA-OTOCEPHALY COMPLEX; AGOTC	View info
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY	View info
AICARDI-GOUTIÈRES SYNDROME	View info
AICARDI-GOUTIERES SYNDROME 1; AGS1	View info

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