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Synonyms |
Description |
Articles |
Phenotypes |
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Wolfram syndrome
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WFS; WS; Diabetes mellitus AND insipidus with opti..
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WS; WFS; Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder); DIDMOAD
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A syndrome that is characterized by diabetes melli.. [+]A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness.
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Western equine encephalitis
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WEE
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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.
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1 articles
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Wernicke-Korsakoff syndrome
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Korsakoff Syndrome; Korsakoff's psychosis (disorde..
[+]Korsakoff Syndrome; Korsakoff's psychosis (disorder); Korsakoff's syndrome; Korsakov psychosis; Korsakov's psychosis; Korsakoff's psychosis
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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.
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Werdnig-Hoffmann disease
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Werdnig-Hoffman disease; HMN (Hereditary motor Neu..
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Werdnig-Hoffman disease; HMN (Hereditary motor Neuropathy) Proximal type I; infantile muscular atrophy; hereditary motor neuropathy proximal type I; SMA1; Spinal muscular atrophy 1; progressive muscular atrophy of infancy
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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.
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white piedra
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White piedra (disorder); White piedra; Tinea blanc..
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White piedra; White piedra (disorder); Tinea blanca
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A superficial mycosis that is a superficial fungal.. [+]A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft.
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Wolman disease
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Wolman's or triglyceride storage type III disease; ..
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Wolman's or triglyceride storage type III disease; Wolman's disease; Wolman xanthomatosis; Acid lipase deficiency; Xanthomatosis, familial; 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
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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.
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WAGR syndrome
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Wilms tumor-Aniridia-Genitourinary Anomalies-Menta..
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Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome; chromosome 11p13 deletion syndrome; 11p partial monosomy syndrome (disorder); 11p partial monosomy syndrome
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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.
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Weaver syndrome
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Weaver-Williams syndrome; WEAVER-LIKE SYNDROME
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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.
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Whitewater Arroyo hemorrhagic fever
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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.
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wound botulism
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A botulism that involves intoxication caused by bo.. [+]A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins.
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white sponge nevus
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white sponge nevus of Cannon; white sponge nevus; ..
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white sponge nevus; white sponge nevus of Cannon; hereditary mucosal leukokeratosis
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A skin disease characterized by a defect in the no.. [+]A skin disease characterized by a defect in the normal process of keratinization of the mucosa.
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Wolf-Hirschhorn syndrome
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PITT SYNDROME; Pitt-Rogers-Danks Syndrome; 4p dele..
[+]PITT SYNDROME; Pitt-Rogers-Danks Syndrome; 4p deletion syndrome; chromosome 4p16.3 deletion syndrome
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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.
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5 articles
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19 matches
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Weill-Marchesani syndrome
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congenital mesodermal dystrophy; Mesodermal Dysmor..
[+]congenital mesodermal dystrophy; Mesodermal Dysmorphodystrophy, Congenital; GEMSS syndrome; Marchesani-Weill Syndrome; Spherophakia Brachymorphia Syndrome
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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.
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Walker-Warburg syndrome
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cerebroocular dysplasia-muscular dystrophy syndrom..
[+]cerebroocular dysplasia-muscular dystrophy syndrome; HARD syndrome
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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.
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West syndrome
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Infantile spasms syndrome
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An infancy electroclinical syndrome that is charac.. [+]An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability.
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1 articles
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withdrawal disorder
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A substance-related disorder that occurs upon the .. [+]A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.
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writing disorder
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A learning disability that involves impaired writt.. [+]A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
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Warburg micro syndrome
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Warburg-Sjo-Fledelius syndrome; WARBM; micro syndr..
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WARBM; Warburg-Sjo-Fledelius syndrome; micro syndrome
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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.
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white shrimp allergy
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Litopenaeus vannamei allergy
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A crustacean allergy triggered by Litopenaeus vann.. [+]A crustacean allergy triggered by Litopenaeus vannamei.
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Warsaw breakage syndrome
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WABS
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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.
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