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
LYMPHOMA, NON-HODGKIN, FAMILIAL	View info
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1	View info
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2	View info
LYNCH SYNDROME I	View info
LYSINURIC PROTEIN INTOLERANCE; LPI	View info
LYSOSOMAL ACID LIPASE DEFICIENCY	View info
MACHADO-JOSEPH DISEASE; MJD	View info
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR	View info
MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME; MMFD	View info
MACROCEPHALY/AUTISM SYNDROME	View info
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH	View info
MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1	View info
MACS SYNDROME	View info
MACULAR DEGENERATION, AGE-RELATED, 13; ARMD13	View info
MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1	View info
MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2	View info
MACULAR DEGENERATION, EARLY-ONSET; EOMD	View info
MACULAR DYSTROPHY, PATTERNED, 1; MDPT1	View info
MACULAR DYSTROPHY, VITELLIFORM, 1; VMD1	View info
MACULAR DYSTROPHY, VITELLIFORM, 3; VMD3	View info

95 of 172