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"

13 matching diseasesClear search ×

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

ORPHA:3316

Bamforth-Lazarus syndrome

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

ORPHA:1226

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

ORPHA:1997

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

ORPHA:199306

Cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

ORPHA:2003

Cleft lip/palate-ectodermal dysplasia syndrome

CLPED1 · Cleft lip/palate-syndactyly-pili torti syndrome

ORPHA:3253

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

McPherson-Clemens syndrome

ORPHA:2001

Cleft palate-lateral synechia syndrome

CPLS syndrome

ORPHA:2016

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

ORPHA:1888

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

ORPHA:2117

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

ORPHA:2389

OBSOLETE: Cleft lip-retinopathy syndrome

OBSOLETE: Cleft lip-progressive retinopathy syndrome · OBSOLETE: Ausems-Wittebol Post-Hennekam syndrome

ORPHA:1995

Syngnathia-cleft palate syndrome

ORPHA:3263