Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10 matching diseasesClear search ×

Infantile Krabbe disease

Krabbe disease, classic form · Krabbe disease, early-onset

ORPHA:206436

Adult Krabbe disease

ORPHA:206448

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

ORPHA:829

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

ORPHA:1020

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

ORPHA:420429

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

ORPHA:487

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

ORPHA:206443

Moyamoya disease with early-onset achalasia

ORPHA:401945

PRDM8-related progressive myoclonus epilepsy

Early-onset Lafora body disease

ORPHA:324290

Young-onset Parkinson disease

Early-onset Parkinson disease · YOPD

ORPHA:2828