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 ×

Bamforth-Lazarus syndrome

Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome

ORPHA:1226

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

ORPHA:199306

Cleft palate-lateral synechia syndrome

CPLS syndrome

ORPHA:2016

Hypopituitarism-micropenis-cleft lip/palate syndrome

ORPHA:2243

Schilbach-Rott syndrome

BRSS · Hypotelorism-cleft palate-hypospadias syndrome

ORPHA:2353

Syndrome with hypoparathyroidism

ORPHA:181402

Syndromic hypothyroidism

ORPHA:177107

Syngnathia-cleft palate syndrome

ORPHA:3263