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"

53 matching diseasesClear search ×

Short stature-webbed neck-heart disease syndrome

Al Gazali-Aziz-Salem syndrome

ORPHA:2865

Spastic ataxia-corneal dystrophy syndrome

Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome

ORPHA:2572

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

ORPHA:169105

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

ORPHA:85332