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"

9 matching diseasesClear search ×

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Al Gazali-Donnai-Muller syndrome

ORPHA:2153

Al-Gazali-Dattani syndrome

ORPHA:139477

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

ORPHA:2143

Dysraphism-cleft lip/palate-limb reduction defects syndrome

Medeira-Dennis-Donnai syndrome

ORPHA:2476

Eye defects-arachnodactyly-cardiopathy syndrome

Al Gazali-Al Talabani syndrome · Al Gazali-Lytle syndrome

ORPHA:2725

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Al Gazali-Nair syndrome

ORPHA:2773

Postaxial acrofacial dysostosis

Miller syndrome · POADS

ORPHA:246

Short stature-webbed neck-heart disease syndrome

Al Gazali-Aziz-Salem syndrome

ORPHA:2865

Thakker-Donnai syndrome

Dysmorphism-multiple structural anomalies syndrome

ORPHA:1780