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"

8 matching diseasesClear search ×

Opitz GBBB syndrome

Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome

ORPHA:2745

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

ORPHA:2211

Hypodontia-dysplasia of nails syndrome

Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome

ORPHA:2228

Lower limb malformation-hypospadias syndrome

Fried-Goldberg-Mundel syndrome

ORPHA:2487

Non-syndromic posterior hypospadias

Perineal, scrotal or penoscrotal hypospadias · Hypospadias, severe form

ORPHA:95706

OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome

ORPHA:2042

Schilbach-Rott syndrome

BRSS · Hypotelorism-cleft palate-hypospadias syndrome

ORPHA:2353

Spina bifida-hypospadias syndrome

ORPHA:3176