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"

11 matching diseasesClear search ×

Short stature-webbed neck-heart disease syndrome

Al Gazali-Aziz-Salem syndrome

ORPHA:2865

Al-Gazali-Dattani syndrome

ORPHA:139477

Alazami syndrome

Microcephalic primordial dwarfism, Alazami type

ORPHA:319671

Eye defects-arachnodactyly-cardiopathy syndrome

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

ORPHA:2725

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

ORPHA:2067

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

ORPHA:1802

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Al Gazali-Donnai-Muller syndrome

ORPHA:2153

Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

Salti-Salem syndrome

ORPHA:2230

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

ORPHA:261112

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Al Gazali-Nair syndrome

ORPHA:2773

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

ORPHA:324977