Rare Disease Library

Eye defects-arachnodactyly-cardiopathy syndrome

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

Al-Gazali-Dattani syndrome

Alagille syndrome

Alagille-Watson syndrome · Arteriohepatic dysplasia

Alazami syndrome

Microcephalic primordial dwarfism, Alazami type

Cystic fibrosis-gastritis-megaloblastic anemia syndrome

CF · Lubani-Al Saleh-Teebi syndrome

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Al Gazali-Donnai-Muller syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Al Gazali-Nair syndrome

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Short stature-webbed neck-heart disease syndrome

Al Gazali-Aziz-Salem syndrome

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome