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"

5 matching diseasesClear search ×

Hallermann-Streiff-like syndrome

Dennis-Fairhurst-Moore syndrome · Hallermann-Streiff-François syndrome, severe form

ORPHA:2109

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

ORPHA:79134

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

ORPHA:1652

Dysraphism-cleft lip/palate-limb reduction defects syndrome

Medeira-Dennis-Donnai syndrome

ORPHA:2476

Moore-Federman syndrome

Dwarfism-stiff joint-ocular abnormalities syndrome

ORPHA:2569