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"

62 matching diseasesClear search ×

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

ORPHA:139466

Sturge-Weber syndrome

Encephalofacial angiomatosis · Encephalotrigeminal angiomatosis

ORPHA:3205

Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome · Wahab syndrome

ORPHA:357332

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

ORPHA:3301

Trisomy 13 syndrome

Patau syndrome

ORPHA:3378

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

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

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

ORPHA:568056

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2

ORPHA:3447

Wells syndrome

Eosinophilic cellulitis

ORPHA:901

Werner syndrome

Adult progeria · WS

ORPHA:902

West syndrome

ORPHA:3451

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

ORPHA:51636