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"

65 matching diseasesClear search ×

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

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

ORPHA:357332

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

ORPHA:91500

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

ORPHA:97282

W syndrome

Pallister-W syndrome

ORPHA:2804

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

ORPHA:898

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

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

ORPHA:3444

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

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

ORPHA:85332

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469