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Disease	Synonyms	Description	Articles
Usher syndrome type 3	USH3;	An Usher syndrome characterized by progressive hea..[+] An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. [-]
Usher syndrome type 3A	USH3A; Usher syndrome type IIIA;	An Usher syndrome type 3 that has_material_basis_i..[+] An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. [-]
Usher syndrome type 3B	USH3B; Usher syndrome type IIIB;	An Usher syndrome type 3 that has_material_basis_i..[+] An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31. [-]
VACTERL association	VATER syndrome;	A syndrome that is characterized by the presence o..[+] A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. [-]
VEXAS syndrome	vacuoles, E1 enzyme, X-linked, autoinflammatory an.. [+] vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome; [-]	A syndrome that is characterized by blood clots in..[+] A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11. [-]
VIPoma	malignant vasoactive intestinal peptide-secreting .. [+] malignant vasoactive intestinal peptide-secreting tumor; Vasoactive intestinal peptide-secreting tumor (disorder); Vipoma, malignant; VIP- Secreting tumor; Vasoactive intestinal peptide-secreting tumor; [-]	n_a
Vagus nerve disease	disorder of vagal nerve; Vagus nerve disorder; dis.. [+] disorder of vagal nerve; Vagus nerve disorder; disorder of vagus nerve (disorder); disorder of pneumogastric [10th] nerve; disorder of vagus nerve; [-]	n_a
Van Esch-O'Driscoll syndrome	MRXSVEOD; VEODS; X-linked intellectual disability,.. [+] MRXSVEOD; VEODS; X-linked intellectual disability, Van Esch type; X-linked syndromic mental retardation Van Esch-O'Driscoll type; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. [-]
Van Maldergem syndrome	cerebro-facio-articular syndrome;	A syndrome characterized by facial abnormalities s..[+] A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. [-]
Van den Ende-Gupta syndrome	Marden-Walker-like syndrome; Marden-Walker-like sy.. [+] Marden-Walker-like syndrome; Marden-Walker-like syndrome without psychmotor retardation; VDEGS; blepharophimosis, arachnodactyly, and congenital contractures; [-]	A syndrome characterized by severe contractual ara..[+] A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. [-]
Van der Woude syndrome	lip-pit syndrome;	A syndrome characterized by the combination of low..[+] A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. [-]	1 articles
Venezuelan equine encephalitis	Venezuelan equine fever;	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. [-]
Venezuelan hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus guanaritoense, which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. [-]
Vici syndrome	immunodeficiency with cleft lip/palate, cataract, .. [+] immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum; [-]	A syndrome characterized by callosal agenesis, cat..[+] A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. [-]
Vissers-Bodmer syndrome		A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. [-]
Vogt-Koyanagi-Harada disease	uveomeningoencephalitic syndrome; Vogt-Koyanagi-Ha.. [+] uveomeningoencephalitic syndrome; Vogt-Koyanagi-Harada disease (disorder); Harada's disease; Vogt-Koyanagi syndrome; [-]	An autoimmune disease that is caused by T helper c..[+] An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. [-]
Vohwinkel syndrome	congenital deafness with keratopachydermia and con.. [+] congenital deafness with keratopachydermia and constrictions fo fingers and toes; keratoderma hereditarium mutilans; KHM; mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness; VOWNKL; PPK mutilans and deafness; [-]	A syndrome characterized by severe, honeycomb-patt..[+] A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. [-]
Volkmann contracture	Volkmann's ischemic contracture;	A connective tissue disease that develops from pro..[+] A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles. [-]
Vulto-van Silfout-de Vries syndrome	autosomal dominant mental retardation 24; MRD24; a.. [+] autosomal dominant mental retardation 24; MRD24; autosomal dominant non-syndromic intellectual disability 24; IDDISBAS; intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures; VSVS; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. [-]
WAGR syndrome	chromosome 11p13 deletion syndrome; Wilms tumor-An.. [+] chromosome 11p13 deletion syndrome; Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome; 11p partial monosomy syndrome (disorder); 11p partial monosomy syndrome; [-]	A chromosomal deletion syndrome that is a nephrobl..[+] A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. [-]
WHIM syndrome	warts, hypogammaglobulinemia, infections, and myel.. [+] warts, hypogammaglobulinemia, infections, and myelokathexis; WHIMS; warts-hypogammaglobulinemia-infections-myelokathexis syndrome; [-]	An immunodeficiency disease that is characterized ..[+] An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. [-]
Waardenburg syndrome	Waardenburg Shah syndrome; van der Hoeve Halbertso.. [+] Waardenburg Shah syndrome; van der Hoeve Halbertsona Waardenburg syndrome; Waardenburg syndrome; Waardenburg, types I and/or II; Waardenburg's syndrome; [-]	A syndrome characterized by varying degrees of dea..[+] A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. [-]	3 articles
Waardenburg syndrome type 1	Waardenburg syndrome type I; WS1;	A Waardenburg syndrome characterized by autosomal ..[+] A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. [-]
Waardenburg syndrome type 2A	Waardenburg syndrome type IIA; WS2A;	A Waardenburg syndrome characterized by pigmentary..[+] A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. [-]
Waardenburg syndrome type 2B	Waardenburg syndrome type IIB; WS2B;	A Waardenburg syndrome characterized by pigmentary..[+] A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3. [-]
Waardenburg syndrome type 2C	Waardenburg syndrome type IIC; WS2C;	A Waardenburg syndrome characterized by pigmentary..[+] A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. [-]
Waardenburg syndrome type 2E	Waardenburg syndrome type 2E with or without neuro.. [+] Waardenburg syndrome type 2E with or without neurologic involvement; hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation; Waardenburg syndrome type IIE; WS2E; WS2E with or without neurological involvement; [-]	A Waardenburg syndrome characterized by pigmentary..[+] A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. [-]
Waardenburg syndrome type 3	Klein-Waardenburg syndrome; Waardenburg syndrome w.. [+] Klein-Waardenburg syndrome; Waardenburg syndrome with upper limb anomalies; WS3; Waardenburg syndrome type III; [-]	A Waardenburg syndrome characterized by upper limb..[+] A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. [-]
Waardenburg syndrome type 4A	Waardenburg syndrome with Hirschsprung disease typ.. [+] Waardenburg syndrome with Hirschsprung disease type 4A; Waardenburg syndrome type IVA; WS4A; [-]	A Waardenburg syndrome characterized by pigmentary..[+] A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. [-]
Waardenburg syndrome type 4B	WS4B; Waardenburg syndrome type IVB; Waardenburg s.. [+] WS4B; Waardenburg syndrome type IVB; Waardenburg syndrome with Hirschsprung disease type 4B; [-]	A Waardenburg syndrome characterized by pigmentary..[+] A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. [-]
Waardenburg syndrome type 4C	WS4C; Waardenburg syndrome type IVC; Waardenburg s.. [+] WS4C; Waardenburg syndrome type IVC; Waardenburg syndrome with Hirschsprung disease type 4C; [-]	A Waardenburg syndrome characterized by pigmentary..[+] A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. [-]
Waisman syndrome	early-onset parkinsonism-intellectual disability s.. [+] early-onset parkinsonism-intellectual disability syndrome; Laxova-Opitz syndrome; [-]	A syndrome characterized by delayed psychomotor de..[+] A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. [-]
Waldeyer's ring cancer	malignant neoplasm of Waldeyer's ring; malignant t.. [+] malignant neoplasm of Waldeyer's ring; malignant tumor of Waldeyer's ring (disorder); malignant tumor of Waldeyer's ring; Waldeyer ring cancer; [-]	n_a
Walker-Warburg syndrome	cerebroocular dysplasia-muscular dystrophy syndrom.. [+] cerebroocular dysplasia-muscular dystrophy syndrome; HARD syndrome; [-]	A congenital muscular dystrophy that is characteri..[+] A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. [-]
Warburg micro syndrome	micro syndrome; Warburg-Sjo-Fledelius syndrome; WA.. [+] micro syndrome; Warburg-Sjo-Fledelius syndrome; WARBM; [-]	A syndrome characterized by severe intellectual di..[+] A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. [-]
Warburg micro syndrome 1	Micro Syndrome 1; WARBM1;	A Warburg micro syndrome that has_material_basis_i..[+] A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. [-]
Warburg micro syndrome 2	WARBM2; Micro Syndrome 2;	A Warburg micro syndrome that has_material_basis_i..[+] A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. [-]
Warburg micro syndrome 3	Micro Syndrome 3; WARBM3;	A Warburg micro syndrome that has_material_basis_i..[+] A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12. [-]
Warburg micro syndrome 4	WARBM4; Micro Syndrome 4;	A Warburg micro syndrome that has_material_basis_i..[+] A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. [-]
Warsaw breakage syndrome	WABS;	A syndrome mainly characterized by severe congenit..[+] A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. [-]
Waterhouse-Friderichsen syndrome	WFS; Meningococcal hemorrhagic adrenalitis;	An adrenal gland disease that is characterized by ..[+] An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. [-]
Watson syndrome		A RASopathy characterized by pulmonic stenosis, ca..[+] A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2. [-]
Weaver syndrome	WEAVER-LIKE SYNDROME; Weaver-Williams syndrome;	A syndrome that is characterized by prenatal and p..[+] A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. [-]
Weill-Marchesani syndrome	congenital mesodermal dystrophy; Mesodermal Dysmor.. [+] congenital mesodermal dystrophy; Mesodermal Dysmorphodystrophy, Congenital; GEMSS syndrome; Marchesani-Weill Syndrome; Spherophakia Brachymorphia Syndrome; [-]	A syndrome characterized by short stature, brachyc..[+] A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. [-]
Weissenbacher-Zweymuller syndrome	Piere-Robin syndrome; Pierre Robin Malformation;	An osteochondrodysplasia that results_in shortened..[+] An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. [-]
Werdnig-Hoffmann disease	HMN (Hereditary motor Neuropathy) Proximal type I;.. [+] HMN (Hereditary motor Neuropathy) Proximal type I; infantile muscular atrophy; Werdnig-Hoffman disease; hereditary motor neuropathy proximal type I; SMA1; Spinal muscular atrophy 1; progressive muscular atrophy of infancy; [-]	A childhood spinal muscular atrophy that is a seve..[+] A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. [-]
Werner syndrome	adult premature ageing syndrome; Werner's syndrome.. [+] adult premature ageing syndrome; Werner's syndrome; WS; adult progeria; [-]	A progeroid syndrome characterized by premature ag..[+] A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8. [-]
Wernicke encephalopathy	Wernicke's disease; Wernicke's encephalopathy;	A brain disease that is characterized by the prese..[+] A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). [-]
Wernicke-Korsakoff syndrome	Korsakoff Syndrome; Korsakoff's psychosis (disorde.. [+] Korsakoff Syndrome; Korsakoff's psychosis (disorder); Korsakoff's syndrome; Korsakov psychosis; Korsakov's psychosis; Korsakoff's psychosis; [-]	A nutritional deficiency disease that is character..[+] A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency. [-]
West Nile encephalitis	West Nile Fever with encephalitis; West Nile fever.. [+] West Nile Fever with encephalitis; West Nile fever encephalitis; [-]	A viral infectious disease that results in inflamm..[+] A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. [-]

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