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
LI-FRAUMENI SYNDROME 1; LFS1	View info
LICHTENSTEIN-KNORR SYNDROME; LIKNS	View info
LIDDLE SYNDROME; LIDLS	View info
LIEBENBERG SYNDROME; LBNBG	View info
LIG4 SYNDROME	View info
LIGNEOUS CONJUNCTIVITIS	View info
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G	View info
LIMB-MAMMARY SYNDROME; LMS	View info
LIMITED CUTANEOUS SYSTEMIC SCLEROSIS	View info
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2	View info
LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD	View info
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1	View info
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2	View info
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3	View info
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4	View info
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2	View info
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3	View info
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4; FPLD4	View info
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6; FPLD6	View info
LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD	View info

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