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"

14 matching diseasesClear search ×

Prader-Willi syndrome

Prader-Labhart-Willi syndrome

ORPHA:739

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

ORPHA:171829

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

ORPHA:633028

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

ORPHA:2724

Prader-Willi syndrome due to imprinting mutation

ORPHA:177910

Prader-Willi syndrome due to paternal 15q11q13 deletion

ORPHA:98793

Prader-Willi syndrome due to translocation

ORPHA:177907

Prader-Willi-like syndrome

PWS-like

ORPHA:398073

SIM1-related Prader-Willi-like syndrome

SIM1-related PWLS

ORPHA:398079

Superior mesenteric artery syndrome

Wilkie syndrome · SMAS

ORPHA:622099

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

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

ORPHA:568056

Weaver-Williams syndrome

ORPHA:3448

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

ORPHA:904

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome

ORPHA:3473