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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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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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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