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

Viral hemorrhagic fever

ORPHA:341

Viral myositis

ORPHA:206991

Virus-associated trichodysplasia spinulosa

Cyclosporine-induced folliculodystrophy · Pilomatrix dysplasia

ORPHA:228379

Visceral arteriovenous malformation

Arteriovenous malformation of internal organs

ORPHA:693855

Visceral calciphylaxis

ORPHA:280068

Visceral heterotaxy

Heterotaxy syndrome · HTX

ORPHA:450

Visceral malformation of the liver, biliary tract, pancreas or spleen

ORPHA:98041

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

ORPHA:73246

Visual snow syndrome

ORPHA:420556

Vitamin B12-responsive methylmalonic acidemia

Adenosylcobalamin deficiency · Vitamin B12-responsive methylmalonic aciduria

ORPHA:28

Vitamin B12-responsive methylmalonic acidemia type cblA

Vitamin B12-responsive methylmalonic aciduria type cblA

ORPHA:79310

Vitamin B12-responsive methylmalonic acidemia type cblB

Vitamin B12-responsive methylmalonic aciduria, type cblB

ORPHA:79311

Vitamin B12-responsive methylmalonic acidemia, type cblDv2

Vitamin B12-responsive methylmalonic aciduria, type cblDv2

ORPHA:308442

Vitamin B12-unresponsive methylmalonic acidemia

Methylmalonyl-Coenzyme A mutase deficiency · Vitamin B12-unresponsive methylmalonic aciduria

ORPHA:27

Vitamin B12-unresponsive methylmalonic acidemia type mut-

Partial deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut-

ORPHA:79312

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Complete deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut0

ORPHA:289916

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

ORPHA:1914

Vitreoretinopathy

ORPHA:98668

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM

ORPHA:600

Vogt-Koyanagi-Harada disease

Uveomenigitic syndrome

ORPHA:3437

Von Voss-Cherstvoy syndrome

DK phocomelia syndrome · Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome

ORPHA:3439

Von Willebrand disease

Hereditary von Willebrand disease · Hereditary pseudohaemophilia

ORPHA:903

Von Willebrand disease type 1

ORPHA:166078

Von Willebrand disease type 2

ORPHA:166081

Von Willebrand disease type 2A

ORPHA:166084

Von Willebrand disease type 2B

ORPHA:166087

Von Willebrand disease type 2M

ORPHA:166090

Von Willebrand disease type 2N

ORPHA:166093

Von Willebrand disease type 3

ORPHA:166096

VPS11-related autosomal recessive hypomyelinating leukodystrophy

VPS11-related autosomal recessive hypomyelinating leukoencephalopathy

ORPHA:466934

Vulvar adenocarcinoma

Adenocarcinoma of the vulva

ORPHA:494454

Vulvar basal cell carcinoma

Basal cell carcinoma of vulva

ORPHA:494451

Vulvar carcinoma

Carcinoma of vulva

ORPHA:494418

Vulvar intraepithelial neoplasia

VIN · Vulvar intraepithelial tumor

ORPHA:137583

Vulvar squamous cell carcinoma

Squamous cell carcinoma of the vulva

ORPHA:494448

Vulvovaginal gingival syndrome

ORPHA:83453

Vulvovaginal rhabdomyosarcoma

ORPHA:206492

W syndrome

Pallister-W syndrome

ORPHA:2804

Waardenburg syndrome

ORPHA:3440

Waardenburg syndrome type 1

WS1 · Waardenburg syndrome type I

ORPHA:894

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

WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

DESSH · Desanto-Shinawi syndrome

ORPHA:466943

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

ORPHA:898

Waldenström macroglobulinemia

ORPHA:33226

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

Warsaw breakage syndrome

WABS

ORPHA:280558