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 ×

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

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome

ORPHA:3138

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

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

WILD syndrome · Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome

ORPHA:568056

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280