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"

4 matching diseasesClear search ×

EDICT syndrome

Autosomal dominant keratoconus with early-onset anterior polar cataracts · Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome

ORPHA:293936

Early-onset anterior polar cataract

Early-onset anterior subcapsular cataract

ORPHA:98988

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

ORPHA:1020

Early-onset posterior polar cataract

ORPHA:98993