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"

6 matching diseasesClear search ×

Cleidorhizomelic syndrome

Rhizomelic shortness with clavicular defect · Wallis-Zieff-Goldblatt syndrome

ORPHA:1453

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

ORPHA:351

Hypospadias-intellectual disability, Goldblatt type syndrome

Goldblatt-Wallis syndrome

ORPHA:2261

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

ORPHA:3032

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

ORPHA:166272

Radial ray hypoplasia-choanal atresia syndrome

Goldblatt-Viljoen syndrome

ORPHA:3026