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
GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	View info
GLYCOGEN STORAGE DISEASE V; GSD5	View info
GLYCOGEN STORAGE DISEASE VI; GSD6	View info
GLYCOGEN STORAGE DISEASE X; GSD10	View info
GLYCOGEN STORAGE DISEASE XI; GSD11	View info
GLYCOGEN STORAGE DISEASE XII; GSD12	View info
GLYCOGEN STORAGE DISEASE XV; GSD15	View info
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15	View info
GM1-GANGLIOSIDOSIS, TYPE I	View info
GM1-GANGLIOSIDOSIS, TYPE III	View info
GM2-GANGLIOSIDOSIS, AB VARIANT	View info
GORDON HOLMES SYNDROME; GDHS	View info
GORLIN SYNDROME	View info
GORLIN-CHAUDHRY-MOSS SYNDROME; GCMS	View info
GRACILE BONE DYSPLASIA; GCLEB	View info
GRAHAM LITTLE-PICCARDI-LASSUEUR SYNDROME	View info
GRANGE SYNDROME; GRNG	View info
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	View info
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II; CDG2	View info
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III; CDG3	View info

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