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"

161 matching diseasesClear search ×

Waardenburg syndrome type 2

WS2 · Waardenburg syndrome type II

ORPHA:895

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3

ORPHA:896

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4

ORPHA:897

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

ORPHA:898

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

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

Wells syndrome

Eosinophilic cellulitis

ORPHA:901

West syndrome

ORPHA:3451

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

ORPHA:51636

X-linked Alport syndrome-diffuse leiomyomatosis

Xq22.3 microdeletion syndrome

ORPHA:1018

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome

ORPHA:261476

Xp22.3 microdeletion syndrome

Del(X)(p23)

ORPHA:1643

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

ORPHA:1435

Xq25 microduplication syndrome

Dup(X)(q25) · Xq25 microtriplication

ORPHA:521258

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)

ORPHA:687424