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"

9 matching diseasesClear search ×

OBSOLETE: Cleft lip-retinopathy syndrome

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

ORPHA:1995

DNA2-related mitochondrial DNA deletion syndrome

Mitochondrial DNA deletion syndrome with limb-girdle weakness · mtDNA deletion syndrome with limb-girdle weakness

ORPHA:352470

Hardikar syndrome

Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR

ORPHA:1415

OBSOLETE: Auriculoocular anomalies-cleft lip syndrome

ORPHA:71270

OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:320317

OBSOLETE: Lymphedema-cleft palate syndrome

ORPHA:86917

OBSOLETE: Spastic diplegia, infantile type

OBSOLETE: Little syndrome

ORPHA:1680

OBSOLETE: Syndromic frontonasal dysplasia

OBSOLETE: Syndromic median cleft syndrome

ORPHA:391479

OBSOLETE: Syndromic vitreoretinopathy

ORPHA:519327