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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
Winchester syndrome
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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.
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wild-type amyloidosis
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wild-type transthyretin cardiac amyloidosis; wild-..
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wild-type transthyretin cardiac amyloidosis; wild-type ATTR amyloidosis; Age related amyloidosis; ATTRwt amyloidosis; Old age amyloidosis; senile systemic amyloidosis
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An amyloidosis that is characterized by progressiv.. [+]
An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein.
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white sponge nevus 1
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A white sponge nevus that has_material_basis_in he.. [+]
A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13.
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white sponge nevus 2
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A white sponge nevus that has_material_basis_in he.. [+]
A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21.
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Wiedemann-Rautenstrauch syndrome
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Neonatal progeroid syndrome; PROGEROID SYNDROME, N..
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Neonatal progeroid syndrome; PROGEROID SYNDROME, NEONATAL
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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.
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Wolcott-Rallison syndrome
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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.
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Wolfram syndrome 1
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WFS1; diabetes mellitus AND insipidus with optic a..
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WFS1; diabetes mellitus AND insipidus with optic atrophy AND deafness; DIDMOAD
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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.
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Wolfram syndrome 2
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WFS2
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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.
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Warburg micro syndrome 1
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WARBM1; Micro Syndrome 1
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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.
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Warburg micro syndrome 2
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WARBM2; Micro Syndrome 2
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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.
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Warburg micro syndrome 3
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WARBM3; Micro Syndrome 3
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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.
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Warburg micro syndrome 4
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WARBM4; Micro Syndrome 4
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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.
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Waardenburg syndrome type 2B
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WS2B; Waardenburg syndrome type IIB
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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.
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Waardenburg syndrome type 1
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WS1; Waardenburg syndrome type I
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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.
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Waardenburg syndrome type 3
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WS3; Waardenburg syndrome type III; Waardenburg sy..
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Waardenburg syndrome type III; WS3; Waardenburg syndrome with upper limb anomalies; Klein-Waardenburg syndrome
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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.
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Waardenburg syndrome type 2A
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WS2A; Waardenburg syndrome type IIA
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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.
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Waardenburg syndrome type 2C
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WS2C; Waardenburg syndrome type IIC
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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.
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Waardenburg syndrome type 4A
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Waardenburg syndrome type IVA; WS4A; Waardenburg s..
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WS4A; Waardenburg syndrome type IVA; Waardenburg syndrome with Hirschsprung disease type 4A
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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.
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Waardenburg syndrome type 4B
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Waardenburg syndrome with Hirschsprung disease typ..
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Waardenburg syndrome with Hirschsprung disease type 4B; Waardenburg syndrome type IVB; WS4B
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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.
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Waardenburg syndrome type 4C
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Waardenburg syndrome with Hirschsprung disease typ..
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Waardenburg syndrome with Hirschsprung disease type 4C; Waardenburg syndrome type IVC; WS4C
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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.
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Waardenburg syndrome type 2E
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WS2E with or without neurological involvement; WS2..
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WS2E with or without neurological involvement; WS2E; Waardenburg syndrome type IIE; Waardenburg syndrome type 2E with or without neurologic involvement; hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation
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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.
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Weyers acrofacial dysostosis
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WAD; Weyers acrodental dysostosis; acrofacial dyso..
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Weyers acrodental dysostosis; WAD; acrofacial dysostosis, Weyers type; Curry-Hall syndrome
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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.
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Waisman syndrome
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early-onset parkinsonism-intellectual disability s..
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early-onset parkinsonism-intellectual disability syndrome; Laxova-Opitz syndrome
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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.
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wrinkly skin syndrome
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WSS
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A syndrome characterized by sagging or wrinkly ski.. [+]
A 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 has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31.
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Woodhouse-Sakati syndrome
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diabetes-hypogonadism-deafness-intellectual disabi..
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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
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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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muscular atrophy
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Wasting - muscle; Amyotrophia; Muscle wasting
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n_a
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1 articles
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parasitic helminthiasis infectious disease
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worm infection; helminthiasis; helminth infection; ..
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worm infection; helminthiasis; helminth infection; helminthosis
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A parasitic infectious disease that occurs when pa.. [+]
A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes.
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open-angle glaucoma
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Wide-angle glaucoma; glaucoma simplex; open angle ..
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Wide-angle glaucoma; glaucoma simplex; open angle glaucoma; pigmentary glaucoma
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A glaucoma characterized by optic nerve damage res.. [+]
A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.
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pertussis
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WC - Whooping cough; whooping cough; bordetella in..
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whooping cough; WC - Whooping cough; bordetella infection
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A commensal bacterial infectious disease that resu.. [+]
A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop).
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trichuriasis
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Whipworm disease; Infection by Trichuris trichura; ..
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Whipworm disease; Infection by Trichuris trichura; Trichuriasis infection; trichuris trichiura infection
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A parasitic helminthiasis infectious disease that .. [+]
A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation.
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cholesterol embolism
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warfarin blue toe syndrome; cholesterol crystal em..
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warfarin blue toe syndrome; cholesterol crystal embolism; trash foot; purple toe syndrome; atheroembolism
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A vascular disease that is characterized by blood .. [+]
A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream.
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nodular nonsuppurative panniculitis
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Weber-Christian disease; Weber - Christian disease..
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Weber-Christian disease; Weber - Christian disease; Relapsing febrile nodular nonsuppurative panniculitis (disorder); nodular non-suppurative febrile panniculitis; Relapsing febrile nodular nonsuppurative panniculitis
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n_a
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nephroblastoma
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Wilms' tumor; adult renal Wilms' tumor; childhood ..
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Wilms' tumor; adult renal Wilms' tumor; childhood renal Wilms tumor; childhood renal Wilms' cancer; renal Wilms tumor; adult nephroblastoma
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A kidney cancer that affects the kidneys and typic.. [+]
A kidney cancer that affects the kidneys and typically located_in children.
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leptospirosis
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Weil's disease; Fort Bragg fever; Rat Catcher's Ye..
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Weil's disease; Fort Bragg fever; Rat Catcher's Yellows; spirochetal jaundice; Leptospirosis icterohaemorrhagica; nanukayami fever
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A primary bacterial infectious disease that involv.. [+]
A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.
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gastric antral vascular ectasia
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Watermelon stomach (disorder); Watermelon stomach; ..
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Watermelon stomach; Watermelon stomach (disorder); gastric antral vascular ectasia (disorder)
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n_a
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spinal cord oligodendroglioma
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Well differentiated Spinal Cord Oligodendroglioma; ..
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Well differentiated Spinal Cord Oligodendroglioma; Oligodendroglioma of spinal cord (disorder); Oligodendroglioma of spinal cord
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n_a
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lateral medullary syndrome
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Wallenberg syndrome; Posterior inferior cerebellar..
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Wallenberg syndrome; Posterior inferior cerebellar artery syndrome (disorder); Posterior inferior cerebellar artery syndrome
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A brain stem infarction that is characterized by h.. [+]
A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome.
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superior mesenteric artery syndrome
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Wilkie's syndrome; Superior mesenteric artery synd..
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Wilkie's syndrome; Superior mesenteric artery syndrome (disorder); Superior mesenteric artery syndrome
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A duodenal obstruction resulting from compression .. [+]
A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery.
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verrucous carcinoma
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Warty carcinoma; verrucous carcinoma NOS (morpholo..
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Warty carcinoma; verrucous carcinoma NOS (morphologic abnormality); verrucous squamous carcinoma; verrucous squamous cell carcinoma (disorder); verrucous squamous cell carcinoma
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A squamous cell carcinoma that is a diffuse, papil.. [+]
A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium.
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clear cell adenocarcinoma
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Wolffian duct neoplasm; Water-clear cell adenocarc..
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Wolffian duct neoplasm; Water-clear cell adenocarcinoma; Water-clear cell carcinoma; Water-clear cell adenocarcinoma (morphologic abnormality); Water-Clear cell adenocarcinoma; Clear cell adenocarcinoma (morphologic abnormality); Clear cell adenocarcinoma NOS (morphologic abnormality); Mesonephroid Clear cell carcinoma; Mesonephroma NOS (morphologic abnormality); malignant Mesonephroma; Mesonephroma, malignant (morphologic abnormality); Clear cell adenocarcinoma; Mesonephroma; mesonephroma; Mesonephroma, malignant
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An adenocarcinoma that derives_from epithelial cel.. [+]
An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm.
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brain edema
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wet brain; intracranial swelling
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A brain disease that is characterized by excess ac.. [+]
A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.
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1 articles
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subependymal glioma
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WHO grade I Ependymal tumor; mixed subependymoma-e..
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WHO grade I Ependymal tumor; mixed subependymoma-ependymoma; Subependymal astrocytoma; Subependymal astrocytoma NOS
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n_a
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benign ependymoma
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WHO grade II Ependymal tumor; epithelial ependymom..
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WHO grade II Ependymal tumor; epithelial ependymoma
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n_a
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diffuse astrocytoma
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WHO grade II astrocytoma; Diffuse astrocytoma, low..
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WHO grade II astrocytoma; Diffuse astrocytoma, low grade; Diffuse astrocytoma (morphologic abnormality)
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A low grade glioma that is characterized by diffus.. [+]
A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures.
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melioidosis
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Whitmore's disease; acute and fulminating melioido..
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Whitmore's disease; acute and fulminating melioidosis; Nightcliff gardener's disease; Pseudoglanders; subacute and chronic melioidosis
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A primary bacterial infectious disease that result.. [+]
A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.
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hereditary Wilms' tumor
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WT1; hereditary Wilms' tumor; Hereditary Wilms tum..
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WT1; hereditary Wilms' tumor; Hereditary Wilms tumor; Hereditary Wilms tumour; hereditary Wilms' tumour
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A nephroblastoma that results_in either bilateral .. [+]
A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour.
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benign intermediate mesothelioma
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Well-differentiated Papillary tumor of Mesothelium..
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Well-differentiated Papillary tumor of Mesothelium
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n_a
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congestive heart failure
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Weak heart; CHF; Cardiac Failure Congestive; Conge..
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Weak heart; CHF; Cardiac Failure Congestive; Congestive heart disease
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A heart disease that is characterized by any struc.. [+]
A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
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6 articles
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tooth and nail syndrome
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Witkop's syndrome; Hypoplastic enamel-onycholysis-..
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Witkop's syndrome; Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder); Tooth and Nail syndrome; Hypoplastic enamel-onycholysis-hypohidrosis syndrome
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A syndrome that affects the teeth, nails, hair, an.. [+]
A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails.
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mixed oligodendroglioma-astrocytoma
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WHO grade II mixed glioma
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n_a
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