Rare Disease Library

Uterine arteriovenous malformation

UAVM · Arteriovenous malformation of the uterus

Uterine cervical aplasia and agenesis

Uterine hypoplasia

Uterovaginal malformation

UV-sensitive syndrome

Uveal coloboma-cleft lip and palate-intellectual disability

Uveal melanoma

Melanoma of choroid · Choroid melanoma

Uveitis

Vaccine-induced immune thrombotic thrombocytopenia

VITT

VACTERL with hydrocephalus

Sujansky-Leonard syndrome

VACTERL/VATER association

VACTERL association · VATER association

Vacuolar myopathy with sarcoplasmic reticulum protein aggregates

Vacuolar aggregate myopathy · Myopathy due to calsequestrin and SERCA1 protein overload

Vaginal atresia

Vaginal carcinoma

Vaginal malignant epithelial tumor

Valvular pulmonary stenosis

Van den Ende-Gupta syndrome

Marden-Walker-like syndrome · VDEGS

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

Variable age-onset epilepsy syndrome

Variably protease-sensitive prionopathy

Variant ABeta2M amyloidosis

Autosomal dominant beta2-microglobulinic amyloidosis

Variant of Guillain-Barré syndrome

Variant of GBS

Variegate porphyria

Protoporphyrinogen oxidase deficiency · Porphyria variegata

Vasa previa

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

Vascular Ehlers-Danlos-polymicrogyria syndrome

Vascular EDS with polymicrogyria

Vascular-like classical Ehlers-Danlos syndrome

Classical EDS due to COL1A1 p.(Arg312Cys) · Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)

Vasculitis

Systemic vasculitis

Vasoproliferative tumor of the retina

Retinal vasoproliferative tumor · VPTR

Vasquez-Hurst-Sotos syndrome

Hypogonadism-gynecomastia-X-linked intellectual disability syndrome

Vegetative pyoderma gangrenosum

Granulomatous pyoderma gangrenosum

Vein of Galen malformation

Vein of Galen arteriovenous malformations · VOGM

Velo-facial-skeletal syndrome

Venezuelan hemorrhagic fever

Guanarito hemorrhagic fever

Venous thoracic outlet syndrome

Effort subclavian vein thrombosis · Paget-Schrotter disease

Ventilator-induced diaphragmatic dysfunction

VIDD

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

Stoll-Kieny-Dott syndrome

Ventriculomegaly-cystic kidney disease

Congenital nephrosis-cerebral ventriculomegaly syndrome · VMCKD

Verloove Vanhorick-Brubakk syndrome

Cleft lip-limb and heart malformations syndrome

Vernal keratoconjunctivitis

Spring catarrh

Verrucous hemangioma

Verrucous nevus

Verruga peruana

Peruvian warts

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD deficiency · VLCADD

Vestibular schwannoma

Acoustic neurilemoma · Acoustic neurinoma

VEXAS syndrome

Vibratory urticaria

Vibratory angioedema/urticaria

Vici syndrome

Dionisi-Vici-Sabetta-Gambarara syndrome · Corpus callosum agenesis-cataract-immunodeficiency syndrome

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera