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
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2	View info
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A	View info
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A	View info
NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD	View info
NIJMEGEN BREAKAGE SYNDROME; NBS	View info
NONAKA MYOPATHY; NM	View info
NOONAN SYNDROME	View info
NOONAN SYNDROME 1; NS1	View info
NOONAN SYNDROME 5; NS5	View info
NOONAN SYNDROME 6; NS6	View info
NOONAN SYNDROME 7; NS7	View info
NOONAN SYNDROME 8; NS8	View info
NOONAN SYNDROME 9; NS9	View info
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1	View info
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2	View info
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL	View info
NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM	View info
NOVELTY SEEKING PERSONALITY TRAIT	View info
NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1	View info
NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4	View info

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