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"

4 matching diseasesClear search ×

Oculotrichodysplasia

Cecato de Lima-Pinheiro syndrome

ORPHA:2718

Neurofaciodigitorenal syndrome

Freire Maia-Pinheiro-Opitz syndrome

ORPHA:2673

Trichodermodysplasia-dental alterations syndrome

Pinheiro-Freire Maia-Miranda syndrome

ORPHA:3353

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

ORPHA:888