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"

10,911 rare diseases

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

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

ORPHA:568056

Warty dyskeratoma

Follicular dyskeratoma

ORPHA:69745

Waterhouse-Friderichsen syndrome

ORPHA:100067

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

Weaver-like syndrome

ORPHA:3446

Weaver-Williams syndrome

ORPHA:3448

Weill-Marchesani syndrome

ORPHA:3449

Weismann-Netter syndrome

Toxopachyosteose diaphysaire tibio-peroniere · Anterior bowing of legs with dwarfism

ORPHA:3344

Weiss-Kruszka Syndrome

Metopic ridging-ptosis-facial dysmorphism syndrome

ORPHA:502430

Weissenbacher-Zweymuller syndrome

Pierre Robin sequence-fetal chondrodysplasia syndrome · Pierre Robin syndrome-fetal chondrodysplasia syndrome

ORPHA:3450

Well-differentiated fetal adenocarcinoma of the lung

WDFA

ORPHA:284395

Well-differentiated liposarcoma

ALT · Atypical lipoma

ORPHA:99971

Well-differentiated papillary mesothelial tumour of the peritoneum

ORPHA:676033

Well-differentiated papillary mesothelial tumour of the pleura

ORPHA:675822

Well-differentiated thymic neuroendocrine carcinoma

ORPHA:263331

Wells syndrome

Eosinophilic cellulitis

ORPHA:901

Werner syndrome

Adult progeria · WS

ORPHA:902

West syndrome

ORPHA:3451

West-Nile encephalitis

West-Nile fever

ORPHA:83476

Western equine encephalitis

Western equine encephalomyelitis

ORPHA:83593

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

ORPHA:51636

Whipple disease

Intestinal lipodystrophy

ORPHA:3452

White fibrous papulosis of the neck

ORPHA:228290

White forelock with malformations

ORPHA:2475

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

Curatolo-Cilio-Pessagno syndrome

ORPHA:3207

White platelet syndrome

ORPHA:370131

White sponge nevus

Hereditary mucosal leukokeratosis · White sponge nevus of Cannon

ORPHA:171723

White-Sutton syndrome

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

ORPHA:468678

Whooping cough

Pertussis

ORPHA:1489

Wieacker-Wolff syndrome

Foot contractures-muscle atrophy-oculomotor apraxia syndrome

ORPHA:3454

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

ORPHA:3455

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

ORPHA:319182

Wild type ABeta2M amyloidosis

ABeta2Mwt amyloidosis · Dialysis-related amyloidosis

ORPHA:85446

Wild type ATTR amyloidosis

ATTRwt amyloidosis · ATTRwt-related amyloidosis

ORPHA:330001

Wildervanck syndrome

Cervicooculoacoustic syndrome

ORPHA:3456

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

ORPHA:904

Williams-Campbell syndrome

ORPHA:411501

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

ORPHA:3459

Witteveen-Kolk syndrome

SIN3A-related intellectual disability syndrome · WITKOS

ORPHA:500163

Wolcott-Rallison syndrome

Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS

ORPHA:1667

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome

ORPHA:3463

Wolfram-like syndrome

ORPHA:411590

Wolman disease

ORPHA:75233

Woodhouse-Sakati syndrome

Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome

ORPHA:3464

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome

ORPHA:170

Woolly hair nevus

Wooly hair nevus

ORPHA:79414