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"

200 matching diseasesClear search ×

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

Trisomy 13 syndrome

Patau syndrome

ORPHA:3378

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

ORPHA:3375

Van der Woude syndrome

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

ORPHA:888

Vici syndrome

Dionisi-Vici-Sabetta-Gambarara syndrome · Corpus callosum agenesis-cataract-immunodeficiency syndrome

ORPHA:1493

W syndrome

Pallister-W syndrome

ORPHA:2804

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome

ORPHA:2442