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 ×

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

ORPHA:881

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

ORPHA:286

Vici syndrome

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

ORPHA:1493

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

ORPHA:97282

W syndrome

Pallister-W syndrome

ORPHA:2804

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

ORPHA:51636

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280