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Disease	Synonyms	Description
Treacher Collins syndrome 2		A Treacher Collins syndrome that has_material_basi..[+] A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. [-]
Troyer syndrome	autosomal recessive spastic paraplegia 20; autosom.. [+] autosomal recessive spastic paraplegia 20; autosomal recessive spastic paraplegia Troyer type; autosomal recessive spastic paraplegia type 20; childhood-onset spastic paraparesis with distal muscle wasting; hereditary spastic paraplegia 20; spastic paraplegia 20 (Troyer syndrome); spastic paraplegia type 20; SPG20; [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. [-]
Tukel syndrome	congenital fibrosis of the extraocular muscles 4;	A congenital fibrosis of the extraocular muscles t..[+] A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. [-]
Turner syndrome	Bonnevie-Ullrich syndrome; Gonadal dysgenesis - Tu.. [+] Bonnevie-Ullrich syndrome; Gonadal dysgenesis - Turner; Karyotype 45, X; Monosomy X; monosomy X syndrome; XO syndrome; [-]	n_a
UV-sensitive syndrome		An autosomal recessive disease characterized by ph..[+] An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines). [-]
Ullrich congenital muscular dystrophy	ULLRICH DISEASE; Ullrich scleroatonic muscular dys.. [+] ULLRICH DISEASE; Ullrich scleroatonic muscular dystrophy; [-]	A congenital muscular dystrophy that is characteri..[+] A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen. [-]
Unverricht-Lundborg syndrome	Unverricht - Lundborg disease; Unverricht's diseas.. [+] Unverricht - Lundborg disease; Unverricht's disease; Unverricht-Lundborg disease; [-]	n_a
Uruguay faciocardiomusculoskeletal syndrome	FCMSU;	A syndrome characterized by distinctive facial app..[+] A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. [-]
Usher syndrome		A syndrome characterized by a combination of heari..[+] A syndrome characterized by a combination of hearing loss and visual impairment. [-]
Usher syndrome type 1	US1; USH1;	An Usher syndrome characterized by profound congen..[+] An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. [-]
Usher syndrome type 1C	USH1C; Usher syndrome type I Acadian variety; Ushe.. [+] USH1C; Usher syndrome type I Acadian variety; Usher syndrome type IC; [-]	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. [-]
Usher syndrome type 1D	USH1D; Usher syndrome type ID;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. [-]
Usher syndrome type 1E	USH1E; Usher syndrome type IE;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21. [-]
Usher syndrome type 1F	USH1F; Usher syndrome type IF;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q. [-]
Usher syndrome type 1G	USH1G; Usher syndrome type IG;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25. [-]
Usher syndrome type 1H	USH1H; Usher syndrome type IH;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23. [-]
Usher syndrome type 1J	USH1J; Usher syndrome type IJ;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. [-]
Usher syndrome type 1K	USH1K; Usher syndrome type IK;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1. [-]
Usher syndrome type 2	USH2;	An Usher syndrome characterized by mild to severe ..[+] An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. [-]
Usher syndrome type 2A	USH2A; Usher syndrome type IIA;	An Usher syndrome type 2 characterized by moderate..[+] An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. [-]
Usher syndrome type 2C	USH2C; Usher syndrome type IIC;	An Usher syndrome type 2 that has_material_basis_i..[+] An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. [-]
Usher syndrome type 2D	USH2D; Usher syndrome type IID;	An Usher syndrome type 2 that has_material_basis_i..[+] An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32. [-]
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. [-]
VIPoma	malignant vasoactive intestinal peptide-secreting .. [+] malignant vasoactive intestinal peptide-secreting tumor; Vasoactive intestinal peptide-secreting tumor (disorder); VIP- Secreting tumor; Vipoma, malignant; [-]	n_a
Vagus nerve disease	disorder of pneumogastric [10th] nerve; disorder o.. [+] disorder of pneumogastric [10th] nerve; disorder of vagal nerve; disorder of vagus nerve (disorder); Vagus nerve disorder; [-]	n_a
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 Maldergem syndrome 2		A Van Malergem syndrome that has_material_basis_in..[+] A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. [-]
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. [-]
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 Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and 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; [-]	An autosomal recessive disease characterized by ca..[+] An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has material basis in mutation in the EPG5 gene on chromosome 18q12.3. [-]
Vogt-Koyanagi-Harada disease	Harada's disease; uveomeningoencephalitic syndrome.. [+] Harada's disease; uveomeningoencephalitic syndrome; Vogt-Koyanagi syndrome; Vogt-Koyanagi-Harada disease (disorder); [-]	A hypersensitivity reaction type II disease that i..[+] A hypersensitivity reaction type II 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. [-]
Volkmann contracture	Volkmann's ischemic contracture;	n_a
WAGR syndrome	11p partial monosomy syndrome (disorder); chromoso.. [+] 11p partial monosomy syndrome (disorder); chromosome 11p13 deletion syndrome; Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation 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; warts-hypogammaglobulinemia-infections-myelokathexis syndrome; WHIMS; [-]	An immunodeficiency disease characterized by neutr..[+] An immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. It has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22. [-]
Waardenburg syndrome	van der Hoeve Halbertsona Waardenburg syndrome; Wa.. [+] van der Hoeve Halbertsona Waardenburg syndrome; Waardenburg Shah 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. [-]
Waardenburg syndrome type 1	Waardenburg syndrome type I; WS1;	A Waardenburg's syndrome characterized by autosoma..[+] A Waardenburg's 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's syndrome characterized by pigmenta..[+] A Waardenburg's 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's syndrome characterized by pigmenta..[+] A Waardenburg's 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's syndrome characterized by pigmenta..[+] A Waardenburg's 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 2D	Waardenburg syndrome type IID; WS2D;	A Waardenburg's syndrome characterized by pigmenta..[+] A Waardenburg's 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 homozygous deletion of the SNAI2 gene on chromosome 8q11. [-]
Waardenburg syndrome type 2E	hypogonadotropic hypogonadism with anosmia and dea.. [+] hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation; Waardenburg syndrome type 2E with or without neurologic involvement; Waardenburg syndrome type IIE; WS2E; WS2E with or without neurological involvement; [-]	A Waardenburg's syndrome characterized by pigmenta..[+] A Waardenburg's 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 t.. [+] Klein-Waardenburg syndrome; Waardenburg syndrome type III; Waardenburg syndrome with upper limb anomalies; WS3; [-]	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 type IVA; Waardenburg syndrom.. [+] Waardenburg syndrome type IVA; Waardenburg syndrome with Hirschsprung disease type 4A; WS4A; [-]	A Waardenburg's syndrome characterized by pigmenta..[+] A Waardenburg's 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	Waardenburg syndrome type IVB; Waardenburg syndrom.. [+] Waardenburg syndrome type IVB; Waardenburg syndrome with Hirschsprung disease type 4B; WS4B; [-]	A Waardenburg's syndrome characterized by pigmenta..[+] A Waardenburg's 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	Waardenburg syndrome type IVC; Waardenburg syndrom.. [+] Waardenburg syndrome type IVC; Waardenburg syndrome with Hirschsprung disease type 4C; WS4C; [-]	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. [-]
Waldenstroem's macroglobulinemia	lymphoplasmacytic lymphoma with IgM gammopathy;	A lymphoplasmacytic lymphoma characterized by the ..[+] A lymphoplasmacytic lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. [-]

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