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 ×

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

ORPHA:3375

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

ORPHA:91500

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome

ORPHA:32960

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

ORPHA:881

Vici syndrome

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

ORPHA:1493

W syndrome

Pallister-W syndrome

ORPHA:2804

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280