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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]
West Nile fever		A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. [-]
West syndrome	Infantile spasms syndrome;	An infancy electroclinical syndrome that is charac..[+] An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. [-]	1 articles
Western equine encephalitis	WEE;	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 Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. [-]	1 articles
Weyers acrofacial dysostosis	acrofacial dysostosis, Weyers type; WAD; Weyers ac.. [+] acrofacial dysostosis, Weyers type; WAD; Weyers acrodental dysostosis; Curry-Hall syndrome; [-]	An acrofacial dysostosis characterized by dental a..[+] An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. [-]
Whipple disease	intestinal lipodystrophy; Whipple's disease; Whipp.. [+] intestinal lipodystrophy; Whipple's disease; Whipple's disease (disorder); [-]	n_a
White-Sutton syndrome	autosomal dominant mental retardation 37; MRD37; W.. [+] autosomal dominant mental retardation 37; MRD37; WHSUS; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. [-]
Whitewater Arroyo 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 whitewaterense, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. [-]
Wiedemann-Rautenstrauch syndrome	Neonatal progeroid syndrome; PROGEROID SYNDROME, N.. [+] Neonatal progeroid syndrome; PROGEROID SYNDROME, NEONATAL; [-]	A progeroid syndrome that is characterized by intr..[+] A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]
Williams-Beuren syndrome	Fanconi Schlesinger syndrome; WBS;	A syndrome that is characterized by mild to modera..[+] A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. [-]	1 articles
Wilson disease	hepatolenticular degeneration; Westphal pseudoscle.. [+] hepatolenticular degeneration; Westphal pseudosclerosis; Westphal-Strumpell syndrome; Cerebral pseudosclerosis; Wilson's disease; [-]	A metal metabolism disease that is characterized b..[+] A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. [-]
Wilson-Turner syndrome	mental retardation, X-linked, syndromic 6; mental .. [+] mental retardation, X-linked, syndromic 6; mental retardation, X-linked, with gynecomastia and obesity; WTS; X-linked intellectual disability-gynecomastia-obesity syndrome; MRXS6; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. [-]
Winchester syndrome		A syndrome that is characterized by a loss of bone..[+] A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. [-]
Wiskott-Aldrich syndrome	Wiskott syndrome;	A syndrome that is characterized by abnormal immun..[+] A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). [-]
Wissler-Fanconi syndrome	Wissler syndrome; Wissler-Fanconi syndrome (findin.. [+] Wissler syndrome; Wissler-Fanconi syndrome (finding); Wissler's subsepsis allergica; Wissler's syndrome; [-]	A syndrome that is characterized by true sepsis, a..[+] A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease. [-]
Wolcott-Rallison syndrome		A syndrome that is characterized by permanent neon..[+] A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2. [-]
Wolf-Hirschhorn syndrome	PITT SYNDROME; Pitt-Rogers-Danks Syndrome; 4p dele.. [+] PITT SYNDROME; Pitt-Rogers-Danks Syndrome; 4p deletion syndrome; chromosome 4p16.3 deletion syndrome; [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. [-]	5 articles	19 matches
Wolff-Parkinson-White syndrome	Anomalous A-V excitation; anomalous atrioventricul.. [+] Anomalous A-V excitation; anomalous atrioventricular excitation; Wolff-Parkinson-White pattern (finding); Wolff-Parkinson-White pattern; [-]	n_a
Wolffian adnexal neoplasm		n_a
Wolffian duct adenocarcinoma		n_a
Wolffian duct adenoma	Mesonephric adenoma; Mesonephroma, benign (morphol.. [+] Mesonephric adenoma; Mesonephroma, benign (morphologic abnormality); Wolffian duct adenoma; benign mesonephroma; Mesonephroma, benign; [-]	A reproductive organ benign neoplasm that derives_..[+] A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct. [-]
Wolfram syndrome	Diabetes mellitus AND insipidus with optic atrophy.. [+] Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder); DIDMOAD; WFS; WS; [-]	A syndrome that is characterized by diabetes melli..[+] A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. [-]
Wolfram syndrome 1	WFS1; diabetes mellitus AND insipidus with optic a.. [+] WFS1; diabetes mellitus AND insipidus with optic atrophy AND deafness; DIDMOAD; [-]	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. [-]
Wolfram syndrome 2	WFS2;	An autosomal recessive neurodegenerative disorder ..[+] An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. [-]
Wolfram syndrome, mitochondrial form	diabetes mellitus AND insipidus with optic atrophy.. [+] diabetes mellitus AND insipidus with optic atrophy AND deafness mitochondrial form; DIDMOAD, mitochondrial form; [-]	A Wolfram syndrome that has_material_basis_in muta..[+] A Wolfram syndrome that has_material_basis_in mutation in mtDNA. [-]
Wolman disease	Acid lipase deficiency; Wolman xanthomatosis; Xant.. [+] Acid lipase deficiency; Wolman xanthomatosis; Xanthomatosis, familial; Wolman's disease; Wolman's or triglyceride storage type III disease; Acid esterase deficiency; acute infantile lysosomal acid lipase deficiency; complete cholesterol ester hydrolase deficiency; complete LAL deficiency; complete LIPA deficiency; complete lysosomal acid lipase deficiency; [-]	A lysosomal acid lipase deficiency characterized b..[+] A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. [-]
Woodhouse-Sakati syndrome	diabetes-hypogonadism-deafness-intellectual disabi.. [+] diabetes-hypogonadism-deafness-intellectual disability syndrome; diabetes-hypogonadism-hearing loss-intellectual disability syndrome; hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome; progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia; [-]	A syndrome characterized by hypogonadism, alopecia..[+] A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. [-]

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