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Waardenburg SyndromeA 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 1A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness; pigmentation anomalies of eyes, hair, and skin; and dystopia canthorum that is caused by heterozygous mutation in the PAX3 geWaardenburg Syndrome Type 2AA 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 is caused byWaardenburg Syndrome Type 2BA 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 is caused byWaardenburg Syndrome Type 2CA 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 is caused byWaardenburg Syndrome Type 2EA 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 is caused byWaardenburg Syndrome Type 3A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that is caused by heterozygous or homozygous mutation in the PAWaardenburg Syndrome Type 4AA Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that is caused by heterozygous or homozygous mutation in the EWaardenburg Syndrome Type 4BA Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that is caused by homozygous and heterozygous mutation in theWaardenburg Syndrome Type 4CA Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that is caused by heterozygous mutation in the SOX10 gene on cWAGR SyndromeA chromosomal deletion syndrome that is a nephroblastoma that causes 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),Waisman SyndromeA syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that is caused by hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28.Walker-Warburg SyndromeA congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and is caused by mutations in multiple genes including POMWarburg Micro SyndromeA syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.Warburg Micro Syndrome 1A Warburg micro syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual develWarburg Micro Syndrome 2A Warburg micro syndrome that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.Warburg Micro Syndrome 3A Warburg micro syndrome that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12.Warburg Micro Syndrome 4A Warburg micro syndrome that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13.Warfarin ResistanceAn inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin.Warfarin SensitivityAn inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin.Warsaw Breakage SyndromeA syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that is caused by homozygous or compound heterozygous mutation in the DWartsSmall growths caused by the human papillomavirus.Water-Clear Cell AdenomaAn adenoma that arises from epithelial cells which have clear cytoplasm.Waterhouse-Friderichsen SyndromeAn adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland.Watson SyndromeA RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that is caused by heterozygous mutation in the NF1 gene on chromosome 17q11.2.Weaver SyndromeA syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and is caused by heterozygous mutation in the EZH2 geWeight & Metabolic HealthWeight, nutrition, and metabolic-health support without judgmentWeill-Marchesani SyndromeA syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.Weill-Marchesani Syndrome 1A Weill-Marchesani syndrome that is caused by homozygous or compound heterozygous mutation in the ADAMTS10 gene on chromosome 19p13.Weill-Marchesani Syndrome 2A Weill-Marchesani syndrome that is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21.Weill-Marchesani Syndrome 3A Weill-Marchesani syndrome that is caused by homozygous mutation in the LTBP2 gene on chromosome 14q24.Weill-Marchesani Syndrome 4A Weill-Marchesani syndrome that is caused by homozygous mutation in the ADAMTS17 gene on chromosome 15q26.Weissenbacher-Zweymuller SyndromeAn osteochondrodysplasia that causes shortened long bones and distinct facial abnormalities.Well-Differentiated LiposarcomaA liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and arises from proliferating mature adipocytes.Werdnig-Hoffmann DiseaseA 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 is caused by a mutation or deletion in theWerner SyndromeA 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 haiWernicke EncephalopathyA 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,Wernicke-Korsakoff SyndromeA 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 is caused by tWestern Equine EncephalitisA viral infectious disease that causes inflammation in brain of horses and humans, is caused by Western equine encephalomyelitis virus (Alphavirus western), which is transmitted by Culex and transmitted by Aedes speciesWest Nile EncephalitisA viral infectious disease that results in inflammation located in brain, is caused by West Nile virus (Orthoflavivirus nilense), which is transmitted by Culex, Aedes, or Anopheles species of mosquitoes. The infection caWest Nile FeverA viral infectious disease that causes infection, is caused by West Nile virus (Orthoflavivirus nilense), which is transmitted by Culex and transmitted by Aedes mosquitoes. The infection causes fever, causes sore throat,West Nile VirusA mosquito-borne virus that can cause neurological illness.West SyndromeAn epilepsy syndrome with infantile spasms.Wet BeriberiA beriberi that is in the cardiovascular system and causes increased heart rate, swelling of lower legs, and shortness of breath.Weyers Acrofacial DysostosisAn acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that is caused by heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2.Wheat AllergyA food allergy that develops from exposure to and particularly consumption of wheat, and causes that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hWHIM Syndrome 1An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that is caused by heterozygous mutation in the CXCR4 gene on chromosome 2q22.WHIM Syndrome 2An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that is caused by homozygous mutation in the CXCR2 gene on chWhiplashA neck injury from sudden back-and-forth motion.White PiedraA 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.White Shrimp AllergyA crustacean allergy triggered by Litopenaeus vannamei.White Sponge NevusA skin disease characterized by a defect in the normal process of keratinization of the mucosa.White Sponge Nevus 1A white sponge nevus that is caused by heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13.White Sponge Nevus 2A white sponge nevus that is caused by heterozygous mutation in the KRT13 gene on chromosome 17q21.White-Sutton SyndromeAn autosomal dominant intellectual developmental disorder that is caused by an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3.Whitewater Arroyo Hemorrhagic FeverA viral infectious disease that is a hemorrhagic fever, is caused by Whitewater Arroyo virus (Mammarenavirus whitewaterense), which is transmitted by white-throated woodrats (Neotoma albigula). The infection causes feverWhooping CoughA bacterial infection causing severe coughing fits.Wieacker-Wolff SyndromeA syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that is caused by variation in chromosomal region Xq13-q22.Wiedemann-Rautenstrauch SyndromeA progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that is caused by compound heterozygoWild-Type AmyloidosisAn amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein.Williams-Beuren SyndromeA 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 isWilliams SyndromeA genetic condition causing developmental delays and heart problems.Wilms TumorA kidney cancer that mainly affects children.Wilson DiseaseA metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.Wilson's DiseaseCopper builds up in the liver, brain, and other organs.Wilson-Turner SyndromeA syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that is caused by hemizygous mutation in tWinchester SyndromeA syndrome that is characterized by a loss of bone tissue particularly in the hands and feet.Wiskott-Aldrich SyndromeA rare immune disorder affecting blood cells.Wissler-Fanconi SyndromeA syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease.Withdrawal DisorderA substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.Wolcott-Rallison SyndromeA syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that is caused by homozygous mutaWolffian Duct AdenocarcinomaA cervical adenocarcinoma that is caused by remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts.Wolffian Duct AdenomaA reproductive organ benign neoplasm that arises from glandular epithelial cells and that is in the region of the Wolffian duct.Wolf-Hirschhorn SyndromeA chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and is caused by a hemizygous deletion of chromosome 4p16.3.Wolfram SyndromeA syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness.Wolfram Syndrome 1An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and is caused by autosomal recessive inheritance of homozygous or compounWolfram Syndrome 2An 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 bWolfram Syndrome, Mitochondrial FormA Wolfram syndrome that is caused by mutation in mtDNA.Wolman DiseaseA 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, jWoodhouse-Sakati SyndromeA syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that is caused by homozygous or compound heterozygous mutatiWorth SyndromeA hyperostosis that is caused by a mutation in the LRP5 gene which causes increased bone density and bony structures in palate.Wound BotulismA botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), is caused by Clostridium botulinum A, is caused by Clostridium botulinum B, is caused by Clostridium botulinum E and is caused byWrinkly Skin SyndromeA syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that is cauWriting DisorderA learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
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