U-V-W | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• UCD - See Urea cycle disorders
• UCMD - See Ullrich congenital muscular dystrophy
• UCTD - See Undifferentiated connective tissue disease - not a rare disease
• UDA syndrome - See Muckle-Wells syndrome
• UDP-Galactose-4-epimerase deficiency - See Galactose epimerase deficiency
• UFS - See Ochoa syndrome
• Uhl anomaly
• Uhl's anomaly - See Uhl anomaly
• Ulbright Hodes syndrome - See Renal dysplasia-limb defects syndrome
• Ulcerative colitis, pediatric - See Pediatric ulcerative colitis
• Ulcerative proctitis
• Ulceronecrotic Mucha-Habermann disease - See Febrile Ulceronecrotic Mucha-Habermann disease
• Ulerythema ophryogenesis
• Ullrich congenital muscular dystrophy
• Ullrich disease - See Ullrich congenital muscular dystrophy
• Ullrich scleroatonic muscular dystrophy - See Ullrich congenital muscular dystrophy
• Ullrich-Noonan syndrome - See Noonan syndrome
• Ullrich-Turner syndrome - See Turner syndrome
• Ulna and fibula absence of with severe limb deficiency - See Al-Awadi-Raas-Rothschild syndrome
• Ulna and fibula, hypoplasia of
• Ulna hypoplasia - See Fryns Hofkens Fabry syndrome
• Ulna hypoplasia-intellectual disability syndrome
• Ulna metaphyseal dysplasia syndrome
• Ulnar hypoplasia - See Fryns Hofkens Fabry syndrome
• Ulnar hypoplasia lobster claw deformity of feet
• Ulnar-mammary syndrome
• Ulnar-mammary syndrome of Pallister - See Ulnar-mammary syndrome
• Ulrich-Feichtiger syndrome - See Fraser syndrome
• Umbilical cord ulcer with intestinal atresia - See Umbilical cord ulceration and intestinal atresia
• Umbilical cord ulceration and intestinal atresia
• Umbilical cord, short - See Limb-body wall complex
• Umbilical ulceration and intestinal atresia - See Umbilical cord ulceration and intestinal atresia
• UMOD-Associated Kidney Disease - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• UMOD-related ADTKD - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• UMOD-related autosomal dominant tubulointerstitial kidney disease - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• UMP synthtase deficiency - See Orotic aciduria type 1
• UMPS - See Orotic aciduria type 1
• UMPS deficiency - See Orotic aciduria type 1
• UMS - See Ulnar-mammary syndrome
• Unclassified acute myeloid leukemia
• Unclassified AML - See Unclassified acute myeloid leukemia
• Uncombable hair syndrome
• Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly - See Bork Stender Schmidt syndrome
• Undervirilized male syndrome - See Androgen insensitivity syndrome, mild
• Undifferentiated acute leukemia - See Acute leukemia of ambiguous lineage
• Undifferentiated connective tissue disease - not a rare disease
• Undifferentiated connective tissue syndrome - See Undifferentiated connective tissue disease - not a rare disease
• Undifferentiated pleomorphic sarcoma
• Undulant fever - See Brucellosis
• Unicentric angiofollicular ganglionic hyperplasia - See Unicentric Castleman disease
• Unicentric angiofollicular lymph hyperplasia - See Unicentric Castleman disease
• Unicentric Castleman disease
• Unilateral absence of a pulmonary artery
• Unilateral agenesis of diaphragm - See Congenital diaphragmatic hernia
• Unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus - See Oculo-cerebral dysplasia
• Unilateral defect of pectoralis muscle and syndactyly of the hand - See Poland syndrome
• Unilateral lobar pulmonary agenesis - See Lung agenesis
• Unilateral loss of facial flushing and sweating with contralateral anhidrosis - See Harlequin syndrome
• Unilateral lung agenesis - See Lung agenesis
• Unilateral Megalencephaly - See Hemimegalencephaly
• Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance - See Der Kaloustian Mcintosh Silver syndrome
• Unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies - See Manitoba oculotrichoanal syndrome
• Uniparental disomy 1q12 q21 - See Chromosome 1, uniparental disomy 1q12 q21
• Uniparental disomy of 16 - See Chromosome 16, uniparental disomy
• Uniparental disomy of 5 - See Chromosome 5, uniparental disomy
• Uniparental disomy of 10 - See Chromosome 10, uniparental disomy
• Uniparental disomy of 11 - See Uniparental disomy of chromosome 11
• Uniparental disomy of 2 - See Uniparental disomy of chromosome 2
• Uniparental disomy of 21 - See Chromosome 21, uniparental disomy
• Uniparental disomy of chromosome 11
• Uniparental disomy of chromosome 2
• Uniparental disomy of chromosome 6
• Universal acquired melanosis
• Unmanageable hair syndrome - See Uncombable hair syndrome
• Unna-Thost palmoplantar keratoderma
• Unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia - See Panostotic fibrous dysplasia
• Unusual facial appearance, microcephaly, growth and mental retardation and syndactyly - See Filippi syndrome
• Unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects - See Cyprus facial neuromusculoskeletal syndrome
• Unusual facies, cleft palate, mental retardation, and limb abnormalities - See Palant cleft palate syndrome
• Unusual facies, cleft palate, short stature, and mental retardation - See Feingold Trainer syndrome
• Unusual facies, digital abnormalities, and ichthyosis - See Ichthyosis tapered fingers midline groove up
• Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus - See Kozlowski Brown Hardwick syndrome
• Unverricht-Lundborg disease
• UPD 2 - See Uniparental disomy of chromosome 2
• UPD(14)mat - See Temple syndrome
• UPD(16) - See Chromosome 16, uniparental disomy
• UPD(6)mat - See Uniparental disomy of chromosome 6
• UPD(6)pat - See Uniparental disomy of chromosome 6
• Upington disease
• Upper limb malformations and congenital cardiac anomalies - See Heart-hand syndrome, Spanish type
• Upper limb mesomelic dysplasia - See Fryns Hofkens Fabry syndrome
• UPS - See Undifferentiated pleomorphic sarcoma
• UPS deficiency - See Acute intermittent porphyria
• Upshaw factor, deficiency of - See Congenital thrombotic thrombocytopenic purpura
• Upshaw-Schulman syndrome - See Congenital thrombotic thrombocytopenic purpura
• Urachal adenocarcinoma
• Urachal cancer
• Urachal carcinoma - See Urachal cancer
• Urachal cyst
• Urbach Wiethe disease - See Lipoid proteinosis of Urbach and Wiethe
• Urban-Rogers-Meyer syndrome - See Prader-Willi habitus, osteopenia, and camptodactyly
• Urban-Schosser-Spohn syndrome - See Hereditary mucoepithelial dysplasia
• Urea cycle disorder, arginino succinase type - See Argininosuccinic aciduria
• Urea cycle disorders
• Urethral cancer
• Urethral duplication - See Duplication of urethra
• Urethral obstruction sequence
• Uridine diphosphate galactose-4-epimerase deficiency - See Galactose epimerase deficiency
• Uridine monophosphate synthase deficiency - See Orotic aciduria type 1
• Uridine monophosphate synthetase deficiency - See Orotic aciduria type 1
• Urioste syndrome - See Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
• Urocanase deficiency
• Urofacial Ochoa's syndrome - See Ochoa syndrome
• Urofacial syndrome - See Ochoa syndrome
• Urogenital adysplasia
• Uromodulin kidney disease - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• Uromodulin-associated kidney disease - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• Uropathy distal obstructive polydactyly
• Uroporphyrinogen III synthase, deficiency of - See Congenital erythropoietic porphyria
• Uroporphyrinogen synthase deficiency - See Acute intermittent porphyria
• UROS deficiency - See Congenital erythropoietic porphyria
• Urticaria idiopathic cold - See Cold urticaria
• Urticaria pigmentosa - See Maculopapular cutaneous mastocytosis - not a rare disease
• Urticaria, deafness and amyloidosis - See Muckle-Wells syndrome
• Urticaria-deafness-amyloidosis syndrome - See Muckle-Wells syndrome
• US1 - See Usher syndrome, type 1
• US2 - See Usher syndrome type 2A
• US2B - See Usher syndrome
• USH1 - See Usher syndrome, type 1
• USH1A - See Usher syndrome, type 1
• USH1C - See Usher syndrome
• USH1D - See Usher syndrome
• USH1E - See Usher syndrome
• USH1F - See Usher syndrome
• USH2 - See Usher syndrome type 2A
• USH2A - See Usher syndrome type 2A
• USH2B - See Usher syndrome
• USH2C - See Usher syndrome
• USH3 - See Usher syndrome type 3A
• USH3A - See Usher syndrome type 3A
• Usher syndrome
• Usher syndrome type 2A
• Usher syndrome type 3A
• Usher syndrome, Acadian variety - See Usher syndrome
• Usher syndrome, type 1
• Usher syndrome, type 1A - See Usher syndrome, type 1
• Usher syndrome, type 1B - See Usher syndrome
• Usher syndrome, type 1C - See Usher syndrome
• Usher syndrome, type 1D - See Usher syndrome
• Usher syndrome, type 1E - See Usher syndrome
• Usher syndrome, type 1F - See Usher syndrome
• Usher syndrome, type 2B - See Usher syndrome
• Usher syndrome, type 2C - See Usher syndrome
• Usher syndrome, type I, French variety - See Usher syndrome, type 1
• Usher's syndrome - See Usher syndrome
• USS - See Congenital thrombotic thrombocytopenic purpura
• Uterine adenosarcoma - See Adenosarcoma of the uterus
• Uterine Carcinosarcoma
• Uterine sarcoma
• Uterine synechiae - See Asherman's syndrome
• UV sensitive syndrome
• Uveal coloboma-cleft lip and palate-intellectual disability
• Uveal coloboma-cleft lip/palate-mental retardation syndrome (formerly) - See Uveal coloboma-cleft lip and palate-intellectual disability
• Uveal diseases
• Uveal melanoma - See Intraocular melanoma
• Uveomenigitic syndrome - See Vogt-Koyanagi-Harada disease
• UVSS - See UV sensitive syndrome

• VACTERL association
• VACTERL association with hydrocephaly - See VACTERL hydrocephaly
• VACTERL association with hydrocephaly, X-linked
• VACTERL hydrocephaly
• Vacuolar cardiomyopathy and myopathy X-linked - See Danon disease
• Vacuolating megalencephalic leukoencephalopathy with subcortical cysts - See Megalencephalic leukoencephalopathy with subcortical cysts
• Vagal paraganglioma - See Glomus vagale tumor
• Vagina, absence of
• Vaginal cancer
• Vagneur Triolle Ripert syndrome
• Valine metabolic defect - See HIBCH deficiency
• Valine transaminase deficiency - See Valinemia
• Valinemia
• Valley fever - See Coccidioidomycosis
• Valproic acid embryopathy - See Fetal valproate syndrome
• Valvar pulmonary stenosis - See Pulmonary valve stenosis
• Valvate pulmonary stenosis - See Pulmonary valve stenosis
• Valvular aortic stenosis - See Aortic valve stenosis
• Valvular heart disease, congenital - See Cardiac valvular dysplasia, X-linked
• Valvular pulmonary stenosis - See Pulmonary valve stenosis
• Valvular pulmonic stenosis - See Pulmonic stenosis
• VAN ASPEREN SYNDROME - See Chromosome 17q11.2 deletion syndrome
• Van Benthem-Driessen-Hanveld syndrome
• Van Bervliet syndrome - See Arthrogryposis IUGR thoracic dystrophy
• Van Biervliet Hendrickx Van Ertbruggen syndrome - See Craniofacial dysostosis arthrogryposis progeroid appearence
• Van Bogaert-Hozay syndrome
• Van Buchem disease - See Hyperostosis corticalis generalisata
• Van Buchem disease type 2
• Van De Berghe Dequeker syndrome - See Ulnar hypoplasia lobster claw deformity of feet
• Van Den Bosch syndrome
• Van Den Ende Brunner syndrome - See Ectrodactyly cardiopathy dysmorphism
• Van den Ende Gupta syndrome - See Marden Walker like syndrome
• Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome - See Waardenburg syndrome
• Van der Hoeve syndrome - See Osteogenesis imperfecta type I
• Van der Woude syndrome
• Van der Woude syndrome 2
• Van Lohuizen syndrome - See Cutis marmorata telangiectatica congenita
• Van Maldergem syndrome - See Cerebro-facio-articular syndrome
• Van Maldergem Wetzburger Verloes syndrome - See Cerebro-facio-articular syndrome
• Vanishing bone disease - See Gorham's disease
• Vanishing white matter disease - See Leukoencephalopathy with vanishing white matter
• Vanishing white matter leukodystrophy - See Leukoencephalopathy with vanishing white matter
• Váradi syndrome - See Orofaciodigital syndrome 6
• Váradi-Papp syndrome - See Orofaciodigital syndrome 6
• Variant A or HHV-6A - See HHV-6 encephalitis
• Variant angina - See Prinzmetal's variant angina
• Variant B or HHV-6B - See HHV-6 encephalitis
• Variant CJD - See Variant Creutzfeldt-Jakob disease
• Variant Creutzfeldt-Jacob disease - See Variant Creutzfeldt-Jakob disease
• Variant Creutzfeldt-Jakob disease
• Variant of Mucha-Habermann disease - See Febrile Ulceronecrotic Mucha-Habermann disease
• Variant phenylketonuria - See Mild phenylketonuria
• Variant PKU - See Mild phenylketonuria
• Varicella Embryopathy - See Congenital varicella syndrome
• Varicella virus antenatal infection - See Congenital varicella syndrome
• Variegate porphyria
• Variola - See Smallpox
• Varioliform gastritis - See Chronic erosive gastritis
• Vascular compression of the duodenum - See Superior mesenteric artery syndrome
• Vascular EDS - See Vascular Ehlers-Danlos syndrome
• Vascular Ehlers-Danlos syndrome
• Vascular hyalinosis
• Vascular purpura - See Henoch-Schonlein purpura
• Vasculitis - not a rare disease
• Vasculitis due to ADA2 deficiency - See Adenosine Deaminase 2 deficiency
• Vasculitis due to DADA2 - See Adenosine Deaminase 2 deficiency
• Vasculitis lymphocytic, nodular - See Lymphocytic vasculitis
• Vasculitis, autoimmune - See Vasculitis - not a rare disease
• Vasoactive intestinal peptide (VIP) tumor - See VIPoma
• Vasoactive intestinal peptide-producing tumor - See VIPoma
• Vasopressin-resistant diabetes insipidus - See Nephrogenic diabetes insipidus
• Vasospastic angina - See Prinzmetal's variant angina
• Vasquez Hurst Sotos syndrome
• VATER association - See VACTERL association
• VBCH - See Hyperostosis corticalis generalisata
• VBCH2 - See Van Buchem disease type 2
• VCFS - See 22q11.2 deletion syndrome
• VCJD - See Variant Creutzfeldt-Jakob disease
• VDEGS - See Marden Walker like syndrome
• VDWS - See Van der Woude syndrome
• vEDS - See Vascular Ehlers-Danlos syndrome
• Vein of Galen aneurysm
• Vein of Galen aneurysm malformation - See Vein of Galen aneurysm
• Velocardiofacial syndrome - See 22q11.2 deletion syndrome
• Velofacioskeletal syndrome
• Velopharyngeal incompetence - See Palatopharyngeal incompetence
• Velopharyngeal insufficiency - See Palatopharyngeal incompetence
• Venezuelan equine encephalitis
• Ventricular extrasystoles perodactyly Robin sequence - See Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
• Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
• Ventricular extrasystoles with syncope, perodactyly, and Robin sequence - See Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
• Ventricular familial preexcitation syndrome - See Wolff-Parkinson-White syndrome - not a rare disease
• Ventricular fibrillation with prolonged QT interval - See Long QT syndrome 1
• Ventricular fibrillation, idiopathic
• Ventricular fibrillation, paroxysmal familial - See Paroxysmal ventricular fibrillation
• Ventricular septal defects
• ventriculoarterial discordance with atrioventricular concordance - See Ventriculoarterial discordance, isolated
• Ventriculoarterial discordance, isolated
• Ventriculomegaly - See Congenital hydrocephalus
• Ventriculo-radial syndrome - See Holt-Oram syndrome
• Verheij syndrome - See Chromosome 8q24.3 deletion syndrome
• Verloes Bourguignon syndrome
• Verloes Gillerot Fryns syndrome - See Male pseudohermaphroditism intellectual disability syndrome, Verloes type
• Verloes syndrome - See Male pseudohermaphroditism intellectual disability syndrome, Verloes type
• Verloes Van Maldergem Marneffe syndrome
• Verloes-David syndrome - See Mesomelia-synostoses syndrome
• Verloes-Gillerot-Fryns syndrome - See Male pseudohermaphroditism intellectual disability syndrome, Verloes type
• Verloove Vanhorick Brubakk syndrome
• Verma Naumoff syndrome - See Short rib-polydactyly syndrome type 3
• Vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis - See Rombo syndrome
• Vernal keratitis
• Vernal keratoconjunctivitis
• Verner-Morrison syndrome - See WDHA syndrome
• Verrucous epidermal nevus - See Inflammatory linear verrucous epidermal nevus
• Verrucous nevus - See Inflammatory linear verrucous epidermal nevus
• Verrucous nevus acanthokeratolytic
• Vertebral (V), anal (A), cardiac (C), tracheoesophageal (TE), renal (R) and limb (L) anomalies and hydrocephaly - SeeVACTERL hydrocephaly
• Vertebral artery syndrome - See Wallenberg syndrome
• Vertebral body fusion overgrowth
• Vertebral fusion with carpal coalition - See Spondylocarpotarsal synostosis syndrome
• Vertebrobasilar migraine - See Migraine with brainstem aura
• Vertical talus - See Congenital vertical talus
• Vertical talus, congenital - See Congenital vertical talus
• Very long-chain acyl-CoA dehydrogenase deficiency - See VLCAD deficiency
• Vesicoenteric fistula - See Enterovesical fistula
• Vessel’s syndrome - See Proximal symphalangism
• Vestibular schwannoma - See Acoustic neuroma
• Vestibulocerebellar disorder with predominant ocular signs - See Nystagmus 4, congenital, autosomal dominant
• Vestibulocochlear dysfunction, progressive
• VGAM - See Vein of Galen aneurysm
• VHL - See Von Hippel-Lindau disease
• VHL syndrome - See Von Hippel-Lindau disease
• VI nerve palsy - See Sixth nerve palsy
• Vibratory angioedema - See Vibratory urticaria
• Vibratory urticaria
• Vibrio cholerae infection - See Cholera
• Vibrio vulnificus infection
• Vici syndrome
• Viljoen Kallis Voges syndrome
• Viljoen Smart syndrome - See Microphthalmia syndromic 8
• Vincent's gingivitis - See Acute necrotizing ulcerative gingivitis
• Vincent's infection - See Acute necrotizing ulcerative gingivitis
• Vincent's stomatitis - See Acute necrotizing ulcerative gingivitis
• VIPoma
• Vipoma Syndrome - See WDHA syndrome
• VIP-secreting tumor - See VIPoma
• Viral hemorrhagic fever
• Viral hepatitis non-A,-B,-C,-D,-E - See Non-A-E hepatitis
• Virilizing ovarian tumor
• Virus associated hemophagocytic syndrome
• Visceral heterotaxy - See Heterotaxy
• Visceral leishmaniasis (subtype) - See Leishmaniasis
• Visceral myopathy - familial external ophthalmoplegia - See Familial visceral myopathy with external ophthalmoplegia
• Visceral myopathy familial - See Megaduodenum and/or megacystis
• Visceral myopathy, familial, with external ophthalmoplegia - See Familial visceral myopathy with external ophthalmoplegia
• Visceral neuromyopathy familial with pseudoobstruction megaduodenum barrett esophagus and cardiac abnormalities- See Mungan syndrome
• Visceral neuropathy familial
• Visceral steatosis
• Visual amnesia - See Agnosia
• Visual pathway and hypothalamic glioma, childhood
• Visual snow - See Visual snow syndrome
• Visual snow syndrome
• Vitamin A Deficiency - See Keratomalacia
• Vitamin B1 deficiency - See Beriberi
• Vitamin B12-responsive methylmalonic acidemia
• Vitamin B12-responsive methylmalonic acidemia type cblA - See Methylmalonic aciduria, cblA type
• Vitamin B12-responsive methylmalonic acidemia type cblB - See Methylmalonic aciduria, cblB type
• Vitamin B12-responsive methylmalonic aciduria - See Vitamin B12-responsive methylmalonic acidemia
• Vitamin B12-responsive methylmalonic aciduria type cblA - See Methylmalonic aciduria, cblA type
• Vitamin B12-responsive methylmalonic aciduria, type cblB - See Methylmalonic aciduria, cblB type
• Vitamin B6 deficiency - See Pyridoxine deficiency
• Vitamin B6-dependent seizures - See Pyridoxine-dependent epilepsy
• Vitamin C deficiency - See Scurvy
• Vitamin D deficiency disease - See Rickets
• Vitamin deficiency, B6 - See Pyridoxine deficiency
• Vitamin D-Resistant Rickets, X-linked - See X-linked hypophosphatemia
• Vitamin K antagonists embryofetopathy - See Warfarin syndrome
• Vitamin K-antagonist embryofetopathy - See Warfarin syndrome
• Vitamin K-antagonist embryopathy - See Warfarin syndrome
• Vitamin-D deficiency rickets - See Rickets
• Vitelliform macular dystrophy type 2 - See Best vitelliform macular dystrophy
• Vitelliform macular dystrophy, adult-onset - See Adult-onset vitelliform macular dystrophy
• Vitelliform macular dystrophy, atypical - See Macular dystrophy, atypical vitelliform
• Vitiliginous choroiditis - See Birdshot chorioretinopathy
• Vitiligo - not a rare disease
• Vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism - See Schrander-Stumpel Theunissen Hulsmans syndrome
• Vitiligo, psychomotor retardation, cleft palate and facial dysmorphism - See Schrander-Stumpel Theunissen Hulsmans syndrome
• Vitreoretinal degeneration
• Vitreoretinal degeneration, Snowflake type - See Snowflake vitreoretinal degeneration
• Vitreoretinochoroidopathy dominant - See Autosomal dominant vitreoretinochoroidopathy
• Vitritis - See Pars planitis
• Vitsala - See Kifafa seizure disorder
• VKC - See Vernal keratoconjunctivitis
• VKH disease - See Vogt-Koyanagi-Harada disease
• VKH syndrome - See Vogt-Koyanagi-Harada disease
• VLCAD deficiency
• VLCADD - See VLCAD deficiency
• VLDLRCH - See Dysequilibrium syndrome
• VMD1 - See Macular dystrophy, atypical vitelliform
• VMD2 - See Best vitelliform macular dystrophy
• Vocal cord dysfunction familial
• VODI - See Hepatic venoocclusive disease with immunodeficiency
• Vogt Spielmeyer disease - See Neuronal ceroid lipofuscinosis 3
• Vogt-Koyanagi-Harada disease
• Vogt-Koyanagi-Harada syndrome - See Vogt-Koyanagi-Harada disease
• Vohwinkel syndrome
• Voiding dysfunction and polycystic ovaries - See Fowler's syndrome
• Volcke Soekarman syndrome - See Macrocephaly-short stature-paraplegia syndrome
• Volcke-Soekarman syndrome - See Macrocephaly-short stature-paraplegia syndrome
• Volubilis syndrome - See Morning glory syndrome
• Von Bogaert-Bertrand disease - See Canavan disease
• Von Economo’s disease - See Encephalitis lethargica
• Von Eulenburg paramyotonia congenita - See Paramyotonia congenita
• Von Gierke disease - See Glycogen storage disease type 1A
• Von Hippel-Lindau disease - See Von Hippel-Lindau disease
• Von Hippel-Lindau disease
• Von Hippel-Lindau syndrome - See Von Hippel-Lindau disease
• Von Recklinghausen disease - See Neurofibromatosis type 1
• Von Voss Cherstvoy syndrome - See DK phocomelia syndrome
• Von Willebrand disease - not a rare disease
• Von Willebrand disease, platelet type - See Pseudo-Von Willebrand disease
• Von Willebrand factor receptor deficiency - See Giant platelet syndrome
• Von Willebrand factor, deficiency - See Von Willebrand disease - not a rare disease
• Voorhoeve disease - See Osteopathia striata cranial sclerosis
• VP - See Variegate porphyria
• VRCP autosomal dominant - See Autosomal dominant vitreoretinochoroidopathy
• Vrolik disease - See Osteogenesis imperfecta
• Vrolik type of osteogenesis imperfecta - See Osteogenesis imperfecta type II
• Vulvar cancer
• Vulvar dysesthesia localized in the vestibule - See Vulvar Vestibulitis Syndrome
• Vulvar Vestibulitis Syndrome
• VVS - See Vulvar Vestibulitis Syndrome
• VWD - See Von Willebrand disease - not a rare disease
• VWS - See Van der Woude syndrome
• VWS2 - See Van der Woude syndrome 2

• W syndrome - See Pallister W syndrome
• Waaler-Aarskog syndrome - See Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
• Waardenburg anophthalmia syndrome - See Anophthalmos with limb anomalies
• 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
• Waardenburg syndrome with upper limb anomalies - See Waardenburg syndrome type 3
• Waardenburg syndrome, type 3 - See Waardenburg syndrome type 3
• Waardenburg-Hirschsprung disease - See Waardenburg syndrome type 4
• Waardenburg-Hirschsprung syndrome - See Waardenburg syndrome type 4
• Waardenburg's syndrome type 1 - See Waardenburg syndrome type 1
• Waardenburg-Shah syndrome - See Waardenburg syndrome type 4
• Wadia Swami syndrome - See Spinocerebellar ataxia 2
• Wagenmann-froboese syndrome - See Multiple endocrine neoplasia type 2B
• Wagner disease (formerly) - See Wagner syndrome
• Wagner syndrome
• Wagner syndrome type 1 - See Wagner syndrome
• Wagner vitreoretinal degeneration - See Wagner syndrome
• WAGR Complex - See WAGR syndrome
• WAGR syndrome
• Waisman syndrome - See Early-onset parkinsonism-intellectual disability syndrome
• Walbaum Titran Durieux Crepin syndrome
• Waldenstrom macroglobulinemia
• Waldenstrom's macroglobulinaemia - See Waldenstrom macroglobulinemia
• Waldenstrom's syndrome - See Waldenstrom macroglobulinemia
• Waldmann disease - See Primary intestinal lymphangiectasia
• Waldmann's disease - See Primary intestinal lymphangiectasia
• Walker Dyson syndrome
• Walker-Clodius syndrome - See EEC syndrome
• Walker-Warburg syndrome
• Wallenberg syndrome
• Wallenberg's syndrome - See Wallenberg syndrome
• Wallerian degeneration
• Wallerian degeneration of the pyramidal tract - See Wallerian degeneration
• Wallet sciatica - See Piriformis syndrome
• Wallis cremin beighton syndrome - See Enchondromatosis dwarfism deafness
• Wallis Zieff Goldblatt syndrome - See Cleidorhizomelic syndrome
• Walt Disney dwarfism - See Geroderma osteodysplastica
• Wandering spleen
• WARBM - See Micro syndrome
• Warburg micro syndrome - See Micro syndrome
• Warburg syndrome - See Walker-Warburg syndrome
• Warburg Thomsen syndrome - See Yemenite deaf-blind hypopigmentation syndrome
• Warburton-Anyane-Yeboa syndrome - See Mosaic variegated aneuploidy syndrome
• Ward-Romano syndrome - See Long QT syndrome 1
• Warfarin embryofetopathy - See Warfarin syndrome
• Warfarin embryopathy - See Warfarin syndrome
• Warfarin resistance
• Warfarin sensitivity
• Warfarin syndrome
• Warm antibody AIHA - See Warm antibody hemolytic anemia
• Warm antibody autoimmune hemolytic anemia - See Warm antibody hemolytic anemia
• Warm antibody hemolytic anemia
• Warman Mulliken Hayward syndrome
• Warm-reacting-antibody hemolytic anemia - See Warm antibody hemolytic anemia
• Warsaw breakage syndrome
• Warthin tumor
• Warts in the throat - See Laryngeal papillomatosis
• Warts, Hypogammaglobulinemia, Infections, and Myelokathexis - See WHIM syndrome
• WAS - See Wiskott Aldrich syndrome
• WAT - See Wolffian tumor
• Waterhouse-Friderichsen syndrome - See Waterhouse–Friderichsen syndrome
• Waterhouse–Friderichsen syndrome
• Watermelon stomach
• Watery Diarrhea Syndrome - See WDHA syndrome
• Watery diarrhea, hypokalemia, and achlorhydria syndrome - See WDHA syndrome
• Watson Alagille syndrome - See Alagille syndrome
• Watson-Miller syndrome - See Alagille syndrome
• WBS - See Williams syndrome
• WBS duplication syndrome - See 7q11.23 duplication syndrome
• WD - See Wilson disease
• WDHA syndrome
• WDM - See Welander distal myopathy, Swedish type
• WDSTS - See Wiedemann-Steiner syndrome
• Weaver like syndrome - See Weaver syndrome
• Weaver Smith syndrome - See Weaver syndrome
• Weaver syndrome
• Weaver Williams syndrome
• Weber Christian disease - See Nodular nonsuppurative panniculitis
• Weber syndrome
• Weber-Christian disease - See Nodular nonsuppurative panniculitis
• Weber-Cockayne syndrome - See Epidermolysis bullosa simplex, localized
• Weber-Cockayne type epidermolysis bullosa simplex - See Epidermolysis bullosa simplex, localized
• Weber-Klippel-Trenaunay - See Klippel-Trenaunay syndrome
• Wedge-shaped epiphyses of knees - See Metaphyseal acroscyphodysplasia
• Wedge-shaped epiphyses of the knees with mental retardation and short stature - See Metaphyseal acroscyphodysplasia
• WEE - See Western equine encephalitis
• Wegener granulomatosis - See Granulomatosis with polyangiitis
• Weil Disease - See Leptospirosis
• Weill-Marchesani syndrome
• Weismann Netter syndrome - See Bowing of legs, anterior with dwarfism
• Weissenbacher-Zweymuller syndrome
• Weissenbacher-Zweymüller syndrome - See Weissenbacher-Zweymuller syndrome
• Welander distal myopathy - See Welander distal myopathy, Swedish type
• Welander distal myopathy, Swedish type
• Well-differentiated NEN of pancreas - See Pancreatic neuroendocrine tumor
• Well-differentiated neuroendocrine neoplasm of pancreas - See Pancreatic neuroendocrine tumor
• Well-differentiated pancreatic NEN - See Pancreatic neuroendocrine tumor
• Well-differentiated pancreatic neuroendocrine neoplasm - See Pancreatic neuroendocrine tumor
• Wellesley Carmen French syndrome
• Wells syndrome
• Wells' syndrome - See Wells syndrome
• Wells-Jankovic syndrome
• Werdnig Hoffmann disease - See Spinal muscular atrophy 1
• Werdnig-Hoffmann disease - See Spinal muscular atrophy 1
• Wermer syndrome - See Multiple endocrine neoplasia type 1
• Werner syndrome
• Werner-like syndrome due to combined growth factor deficiency - Another name for Lipodystrophy due to peptidic growth factors deficiency
• Werner's syndrome - See Werner syndrome
• Wernicke-Korsakoff syndrome
• West nile encephalitis
• West nile virus
• West syndrome
• Westerhof Beemer Cormane syndrome - See Macules hereditary congenital hypopigmented and hyperpigmented
• Western equine encephalitis
• Western equine encephalomyelitis - See Western equine encephalitis
• West's syndrome - See West syndrome
• Weyers acrofacial dysostosis
• Weyers ulnar ray/oligodactyly syndrome
• WFS - See Wolfram syndrome
• WG - See Granulomatosis with polyangiitis
• WGN1 - See Wagner syndrome
• WHH syndrome - See Winter Harding Hyde syndrome
• WHIM syndrome
• WHIMS - See WHIM syndrome
• Whipple disease
• Whipworm infection - See Trichuriasis
• Whispering dysphonia - See DYT-TUBB4A
• Whistling face syndrome, recessive form
• Whistling face-windmill vane hand syndrome - See Freeman Sheldon syndrome
• Whitaker syndrome - See Autoimmune polyglandular syndrome type 1
• White forelock (poliosis) syndrome with multiple congenital malformations - See Waardenburg syndrome type 3
• White forelock and leukoderma with neurological impairment - See Telfer Sugar Jaeger syndrome
• White forelock with malformations
• White liver disease - See Visceral steatosis
• White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
• White platelet syndrome
• White sponge nevus of cannon
• Whitmore disease - See Melioidosis
• WHO Grade II Ependymal Neoplasm - See Ependymoma
• Whooping cough
• WHS - See Wolf-Hirschhorn syndrome
• Whyte Murphy syndrome - See Osteopathia striata with pigmentary dermopathy including white forelock
• Whyte Petersen McAlister syndrome - See Spondyloepimetaphyseal dysplasia with hypotrichosis
• Whyte syndrome - See Spondyloepimetaphyseal dysplasia with hypotrichosis
• Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness - See Singleton-Merten syndrome
• Wieacker syndrome - See Intellectual disability-developmental delay-contractures syndrome
• Wieacker Wolff syndrome - See Intellectual disability-developmental delay-contractures syndrome
• Wiedemann Grosse Dibbern syndrome - See Wiedemann-Steiner syndrome
• Wiedemann Oldigs Oppermann syndrome
• Wiedemann Rautenstrauch syndrome - See Neonatal progeroid syndrome
• Wiedemann-Beckwith Syndrome (WBS) - See Beckwith-Wiedemann syndrome
• Wiedemann-Oldigs-Oppermann syndrome - See Wiedemann Oldigs Oppermann syndrome
• Wiedemann-Rautenstrauch syndrome - See Neonatal progeroid syndrome
• Wiedemann-Steiner syndrome
• Wildervanck syndrome
• Wildervanck-Smith syndrome - See Miller syndrome
• Wilkie syndrome - See Superior mesenteric artery syndrome
• Willebrand disease, acquired - See Acquired Von Willebrand syndrome
• Williams syndrome
• Williams-Beuren region duplication syndrome - See 7q11.23 duplication syndrome
• Williams-Beuren syndrome - See Williams syndrome
• Willi-Prader syndrome - See Prader-Willi syndrome
• Willis Ekbom disease - See Restless legs syndrome - not a rare disease
• Wilms' tumor
• Wilms tumor 5 - See Wilms tumor and radial bilateral aplasia
• Wilms tumor and pseudohermaphroditism - See Denys-Drash syndrome
• Wilms tumor and radial bilateral aplasia
• Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation syndrome - See WAGR syndrome
• Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome - See WAGR syndrome
• Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome - See WAGR syndrome
• Wilson disease
• Wilson Turner mental retardation syndrome (formerly) - See Wilson-Turner syndrome
• Wilson-Mikity syndrome
• Wilson-Turner syndrome
• Winchester disease - See Winchester syndrome
• Winchester syndrome
• Winchester-Grossman Syndrome - See Winchester syndrome
• Windblown hand
• Windswept hand - See Windblown hand
• Winged helix deficiency - See T-cell immunodeficiency, congenital alopecia and nail dystrophy
• Winkelmann-Bethge-Pfeiffer syndrome - See Pituitary hormone deficiency, combined 3
• Winship-Viljoen-Leary syndrome - See Microcephaly-cardiomyopathy
• Winter Harding Hyde syndrome
• Wisconsin syndrome
• Wiskott Aldrich syndrome
• Witkop syndrome
• Wittwer syndrome - See Wolf-Hirschhorn syndrome
• WL syndrome - See Multiple synostoses syndrome 1
• WM Syndrome - See Weill-Marchesani syndrome
• WMS - See Williams syndrome
• WMS - See Weill-Marchesani syndrome
• WND - See Wilson disease
• WNS - See Bowing of legs, anterior with dwarfism
• Wolcott Rallison syndrome - See Epiphyseal dysplasia multiple with early-onset diabetes mellitus
• Wolf syndrome - See Wolf-Hirschhorn syndrome
• Wolffian adenoma - See Wolffian tumor
• Wolffian adnexal tumor - See Wolffian tumor
• Wolffian tumor
• Wolff-Parkinson-White syndrome - not a rare disease
• Wolf-Hirschhorn syndrome
• Wolfram syndrome
• Wolman disease
• Woodhouse Sakati syndrome
• Woodhouse-Sakati syndrome - See Woodhouse Sakati syndrome
• Woods Black Norbury syndrome
• Wool sorter's disease - See Anthrax
• Woolly hair - See Woolly hair syndrome
• Woolly hair hypotrichosis everted lower lip and outstanding ears
• Woolly hair palmoplantar keratoderma cardiac abnormalities - See Naxos disease
• Woolly hair syndrome
• Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome - See Cardiomyopathy dilated with woolly hair and keratoderma
• Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome - See Cardiomyopathy dilated with woolly hair and keratoderma
• Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy - See Cardiomyopathy dilated with woolly hair and keratoderma
• Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome - See Cardiomyopathy dilated with woolly hair and keratoderma
• Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome - See Cardiomyopathy dilated with woolly hair and keratoderma
• Worm infections - See Helminthiasis
• Worster Drought syndrome
• Worth syndrome - See Worth type autosomal dominant osteosclerosis
• Worth type autosomal dominant osteosclerosis
• Wound botulism (subtype) - See Botulism
• WPW syndrome - See Wolff-Parkinson-White syndrome - not a rare disease
• Wrinkly skin syndrome
• WRN - See Werner syndrome
• WS 2 - See Waardenburg syndrome type 2
• WS type 2 - See Waardenburg syndrome type 2
• WS1 - See Waardenburg syndrome type 1
• WS2A - See Waardenburg syndrome type 2A
• WS2B - See Waardenburg syndrome type 2B
• WS3 - See Waardenburg syndrome type 3
• WS4 - See Waardenburg syndrome type 4
• WSN - See White sponge nevus of cannon
• WSN - See Early-onset parkinsonism-intellectual disability syndrome
• WSS - See Weaver syndrome
• WT limb blood syndrome
• WT syndrome - See WT limb blood syndrome
• WT1 - See Wilms' tumor
• WT5 - See Wilms tumor and radial bilateral aplasia
• WTS - See Wilson-Turner syndrome
• Wuchereria Bancrofti infection - See Lymphatic filariasis
• Wuchereriasis - See Lymphatic filariasis
• WWS - See Intellectual disability-developmental delay-contractures syndrome
• Wyburn Mason syndrome - See Wyburn-Mason syndrome
• Wyburn-Mason syndrome
• WZS - See Weissenbacher-Zweymuller syndrome