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
NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM	View info
NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1	View info
NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3	View info
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6	View info
NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE; SCN7	View info
NEVOID HYPERMELANOSIS, LINEAR AND WHORLED; LWNH	View info
NEVUS COMEDONICUS; NC	View info
NEVUS, EPIDERMAL	View info
NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD	View info
NICOLAIDES-BARAITSER SYNDROME; NCBRS	View info
NIEMANN-PICK DISEASE, TYPE A	View info
NIEMANN-PICK DISEASE, TYPE B	View info
NIEMANN-PICK DISEASE, TYPE C1; NPC1	View info
NIEMANN-PICK DISEASE, TYPE C2; NPC2	View info
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

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