Rare Disease Directory V - Z
- VACTERL association with hydrocephaly, X-linked
- VACTERL hydrocephaly
- Vacuolar myopathy
- Vagina, absence of
- Vaginal cancer
- Vagneur Triolle Ripert syndrome
- Valinemia
- Valproic acid antenatal infection
- Van Allen Myhre syndrome
- Van Bogaert-Hozay syndrome
- Van Buchem disease type 2
- Van Den Bosch syndrome
- Van der Woude syndrome
- Van der Woude syndrome 2
- Van Goethem syndrome
- Van Maldergem Wetzburger Verloes syndrome
- Van Regemorter Pierquin Vamos syndrome
- Vancomycin-resistant enterococcal bacteremia
- Varadi Papp syndrome
- Variant Creutzfeldt-Jakob disease
- Varicella virus antenatal infection
- Variegate porphyria
- Vascular malposition
- Vasculitis, cutaneous necrotizing
- Vasculopathy, retinal, with cerebral leukodystrophy
- Vasopressin-resistant diabetes insipidus
- Vasquez Hurst Sotos syndrome
- VATER association
- Vein of Galen aneurysm
- Velocardiofacial syndrome
- Velofacioskeletal syndrome
- Velopharyngeal incompetence
- Venencie Powell Winkelmann syndrome
- Ventricular extrasystoles perodactyly Robin sequence
- Ventricular familial preexcitation syndrome
- Ventricular fibrillation, idiopathic
- Ventricular septal defects
- Ventriculo-arterial discordance, isolated
- Ventruto Digirolamo Festa syndrome
- Verloes Bourguignon syndrome
- Verloes Gillerot Fryns syndrome
- Verloes Van Maldergem Marneffe syndrome
- Verloove Vanhorick Brubakk syndrome
- Vernal keratoconjunctivitis
- Verrucous nevus
- Verrucous nevus acanthokeratolytic
- Vertebral body fusion overgrowth
- Vertebral fusion posterior lumbosacral blepharoptosis
- Vertical talus, congenital
- Vestibulocochlear dysfunction progressive familial
- Vibratory angioedema
- Vibrio vulnificus infection
- Vibrios (other than Vibrio cholerae)
- Viljoen Kallis Voges syndrome
- Viljoen Smart syndrome
- Viljoen Winship syndrome
- VIPoma
- Viral hemorrhagic fever
- Virilizing ovarian tumor
- Virus associated hemophagocytic syndrome
- Visceral myopathy familial external ophthalmoplegia
- Visceral steatosis
- Viscero-atrial heterotaxia
- Visual pathway and hypothalamic glioma, childhood
- Vitamin A embryopathy
- Vitamin D resistant rickets
- Vitiligo mental retardation facial dysmorphism uremia
- Vitreoretinal degeneration
- Vitreoretinochoroidopathy dominant
- VLCAD deficiency
- Vocal cord dysfunction familial
- Vogt-Koyanagi-Harada syndrome
- Vohwinkel syndrome
- Von Hippel-Lindau syndrome
- Von Willebrand disease
- Von Willebrand disease, dominant form
- Von Willebrand disease, platelet type
- Von Willebrand disease, recessive form
- Vulvar cancer
- Vulvar Vestibulitis Syndrome
- Waardenburg syndrome
- Waardenburg syndrome type 1
- Waardenburg syndrome type 2
- Waardenburg syndrome type 2A
- Waardenburg syndrome type 2B
- Waardenburg syndrome type 3
- Waardenburg syndrome, type 4
- WAGR syndrome
- Walbaum Titran Durieux Crepin syndrome
- Waldenstrom macroglobulinemia
- Waldmann disease
- Walker Dyson syndrome
- Wallenberg's syndrome
- Wallerian degeneration
- Wandering spleen
- Warburg Sjo Fledelius syndrome
- Warburton Anyane Yeboa syndrome
- Warfarin syndrome
- Warman Mulliken Hayward syndrome
- Warm-reacting-antibody hemolytic anemia
- Warthin's tumor
- Waterhouse–Friderichsen syndrome
- Watermelon stomach
- Watson syndrome
- WDHA syndrome
- Weaver Johnson syndrome
- Weaver like syndrome
- Weaver syndrome
- Weaver Williams syndrome
- Weber syndrome
- Weber-Christian disease
- Webster Deming syndrome
- Wegener's granulomatosis
- Wegmann Jones Smith syndrome
- Weinstein Kliman Scully syndrome
- Weismann Netter Stuhl syndrome
- Welander distal myopathy, Swedish type
- Weleber Hecht Bigley syndrome
- Wellesley Carmen French syndrome
- Wells Jankovic syndrome
- Wells syndrome
- Werdnig-Hoffmann disease
- Werner's syndrome
- Wernicke-Korsakoff syndrome
- West nile encephalitis
- West nile virus
- West syndrome
- Western equine encephalitis
- Western/Eastern/California encephalitis
- Westphal disease
- Weyers acrofacial dysostosis
- Weyers ulnar ray/oligodactyly syndrome
- WHIM syndrome
- Whipple disease
- Whispering dysphonia, hereditary
- Whistling face syndrome, recessive form
- Whitaker syndrome
- White forelock with malformations
- White matter hypoplasia, corpus callosum agenesia, and mental retardation
- White platelet syndrome
- White sponge nevus of cannon
- Whooping cough
- Wieacker syndrome
- Wiedemann Grosse Dibbern syndrome
- Wiedemann Oldigs Oppermann syndrome
- Wiedemann Opitz syndrome
- Wildervanck syndrome
- Wilkes Stevenson syndrome
- Wilkie Taylor Scambler syndrome
- Willebrand disease, acquired
- Willems De vries syndrome
- Williams syndrome
- Wilms' tumor
- Wilms tumor and pseudohermaphroditism
- Wilms tumor and radial bilateral aplasia
- Wilson disease
- Wilson-Turner X-linked mental retardation syndrome
- Winchester syndrome
- Winkelman Bethge Pfeiffer syndrome
- Winship Viljoen Leary syndrome
- Winter Harding Hyde syndrome
- Winter Shortland Temple syndrome
- Wisconsin syndrome
- Wiskott Aldrich syndrome
- Witkop syndrome
- Wittwer syndrome
- Wohlwill-Andrade syndrome
- Wolcott-Rallison syndrome
- Wolff Parkinson White syndrome
- Wolffian tumor
- Wolf-Hirschorn syndrome
- Wolfram syndrome
- Wolman disease
- Woodhouse Sakati syndrome
- Woods Black Norbury syndrome
- Woods Leversha Rogers syndrome
- Woolly hair, congenital
- Woolly hair, hypotrichosis, everted lower lip and outstanding ears
- Worster Drought syndrome
- Worth syndrome
- Wright Dyck syndrome
- Wrinkly skin syndrome
- WT limb blood syndrome
- Wyburn Mason's syndrome
- X chromosome, monosomy Xp22 pter
- X chromosome, monosomy Xq28
- X chromosome, trisomy 26-28
- X chromosome, trisomy Xp3
- X chromosome, trisomy Xpter Xq13
- X chromosome, trisomy Xq
- X chromosome, trisomy Xq25
- X fragile site folic acid type
- Xanthic urolithiasis
- Xanthine oxydase deficiency
- Xanthinuria
- Xanthogranulomatous cholecystitis
- Xanthogranulomatous sialadenitis
- Xerocytosis, hereditary
- Xeroderma pigmentosum
- Xeroderma pigmentosum type 7
- Xeroderma pigmentosum, type 1
- Xeroderma pigmentosum, type 2
- Xeroderma pigmentosum, type 3
- Xeroderma pigmentosum, type 5
- Xeroderma pigmentosum, type 6
- Xeroderma pigmentosum, type 9
- Xeroderma pigmentosum, variant type
- Xeroderma talipes enamel defects
- XK aprosencephaly
- X-linked adrenal hypoplasia congenita
- X-linked adrenoleukodystrophy
- X-linked agammaglobulinemia
- X-linked alpha thalassemia mental retardation syndrome (ATR-X)
- X-linked ichthyosis
- X-linked lymphoproliferative syndrome
- X-linked mental retardation and macro-orchidism
- X-linked mental retardation associated with marXq2
- X-linked mental retardation Brooks type
- X-linked mental retardation craniofacial abnormal microcephaly club
- X-linked mental retardation De silva type
- X-linked mental retardation Gustavson type
- X-linked mental retardation Hamel type
- X-linked mental retardation type Martinez
- X-linked mental retardation type Raynaud
- X-linked mental retardation type Schutz
- X-linked mental retardation type Wittwer
- X-linked sideroblastic anemia
- XX male syndrome
- XY Female
- Y chromosome pericentric inversion
- Yaws
- Yellow fever
- Yellow nail syndrome
- Yemenite deaf-blind hypopigmentation syndrome
- Yim Ebbin syndrome
- Yolk sac tumor
- Yorifuji Okuno syndrome
- Young Hughes syndrome
- Young McKeever Squier syndrome
- Young Simpson syndrome
- Young Syndrome
- Yunis Varon syndrome
- Yusho Disease
- ZAP70 deficiency
- Zazam Sheriff Phillips syndrome
- Zellweger syndrome
- Zerres Rietschel Majewski syndrome
- Zlotogora syndrome
- Zollinger-Ellison syndrome
- Zonular cataract and nystagmus
- Zori Stalker Williams syndrome
- Zunich neuroectodermal syndrome
- Zuska's Disease
- Zygomycosis
- 15q13.3 microdeletion syndrome
- 17 Beta-hydroxysteroid dehydrogenase deficiency
- 18 Hydroxylase deficiency
- 1p36.33 deletion
- 2,4-@dienoyl-coa reductase deficiency
- 2-@methyl-3-hydroxybutyric acidemia
- 21-hydroxylase-deficient congenital adrenal hyperplasia
- 22q11.2 deletion syndrome
- 2-hydroxyethyl methacrylate sensitization
- 2-Methylacetoacetyl CoA thiolase deficiency
- 2-methylbutyryl-CoA dehydrogenase deficiency
- 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency
- 3 alpha methylcrotonyl-coa carboxylase 2 deficiency
- 3 C syndrome
- 3 methylglutaconic aciduria type I
- 3 methylglutaconic aciduria type IV
- 3 methylglutaconic aciduria type V
- 3-@hydroxyacyl-CoA dehydrogenase deficiency
- 3-Hydroxyisobutyric aciduria
- 3M syndrome
- 3-methylglutaconic aciduria type III
- 46,XX Gonadal dysgenesis epibulbar dermoid
- 47 XXX syndrome
- 47 XYY syndrome
- 49,XXXXX syndrome
- 4-hydroxyphenylacetic aciduria
UA Chapters
Coastal Carolina U
TBD
Saint Francis U
Apraxia
Univ. of Arizona
TBD
N. Carolina St. U
Leukemia
Kent St. Univ.
TBD
U of Notre Dame
Osteosarcoma
Northwestern U
Niemann-Pick Type C
Univ. of Illinois
Acoustic Neuroma
Penn St. Univ.
Kidney Cancer
Ohio St. Univ.
CMT
Colgate Univ.
Ependymoma
Princeton Univ.
Aplastic Anemia
U of Wisconsin–Madison
Leigh's Disease
Fordham Univ.
Extrarenal Rhabdoid Tumor
Univ. of Nebraska
Pediatric Brain Cancer
Boston College
Duchenne muscular dystrophy
Univ. of Maryland
Cystic Fibrosis
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