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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
tick-borne encephalitis
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Western European tick-borne encephalitis; west-Sib..
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Western European tick-borne encephalitis; west-Siberian encephalitis; Russian spring-summer encephalitis; Siberian tick-borne encephalitis; Central European encephalitis; Taiga encephalitis; Far Eastern TBE
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A viral infectious disease that results_in inflamm.. [+]
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
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restless legs syndrome
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Wittmaack-Ekbom syndrome; Willis-Ekbom disease; WE..
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Willis-Ekbom disease; Wittmaack-Ekbom syndrome; WED
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A central nervous system disease characterized by .. [+]
A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
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seasonal affective disorder
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winter depression
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A mental depression that involves presentation of .. [+]
A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
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orofaciodigital syndrome VII
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Whelan syndrome; OFD7
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An orofaciodigital syndrome that is characterized .. [+]
An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance.
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Thiel-Behnke corneal dystrophy
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Waardenburg-Jonker corneal dystrophy; corneal dyst..
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Waardenburg-Jonker corneal dystrophy; corneal dystrophy honeycomb-shaped; corneal dystrophy of Bowman layer type II; anterior limiting membrane dystrophy type II; TBCD
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An epithelial-stromal TGFBI dystrophy that is char.. [+]
An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.
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anomalous left coronary artery from the pulmonary artery
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White-Garland syndrome; Bland-White-Garland syndro..
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White-Garland syndrome; Bland-White-Garland syndrome; ALCAPA
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A coronary artery anomaly in which the left corona.. [+]
A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus.
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T-cell immunodeficiency, congenital alopecia, and nail dystrophy
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winged helix deficiency; alymphoid cystic thymic d..
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winged helix deficiency; alymphoid cystic thymic dysgenesis; severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
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A severe combined immunodeficiency characterized b.. [+]
A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.
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EEC syndrome
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Walker-Clodius syndrome; ectrodactyly, ectodermal ..
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Walker-Clodius syndrome; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; Rudiger syndrome 1; ectrodactyly-ectodermal dysplasia-clefting syndrome
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A syndrome characterized by ectrodactyly, ectoderm.. [+]
A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).
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microphthalmia with limb anomalies
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Waardenburg anophthalmia syndrome; OAS; ophthalmoa..
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Waardenburg anophthalmia syndrome; OAS; ophthalmoacromelic syndrome; anophthalmia-syndactyly syndrome; MLA
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A syndrome that is characterized by autosomal rece.. [+]
A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24.
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lymphoplasmacytic lymphoma
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Waldenstroem's macroglobulinemia; Waldenstrom Macr..
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Waldenstroem's macroglobulinemia; Waldenstrom Macroglobulinemia; lymphoplasmacytic lymphoma with IgM gammopathy
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A B-cell lymphoma characterized by the accumulatio.. [+]
A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.
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palmoplantar keratoderma and woolly hair
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woolly hair-palmoplantar keratoderma syndrome type..
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woolly hair-palmoplantar keratoderma syndrome type 4; keratoderma with woolly hair type IV; PPKWH
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A nonepidermolytic palmoplantar keratoderma charac.. [+]
A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2.
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COVID-19
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Wuhan seafood market pneumonia virus infection; Wu..
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Wuhan seafood market pneumonia virus infection; Wuhan coronavirus infection; 2019 Novel Coronavirus (2019-nCoV); 2019-nCoV infection; COVID19; SARS-CoV-2 infection
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A Coronavirus infectious disease that is character.. [+]
A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2.
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7q11.23 duplication syndrome
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William-Beuren region duplication syndrome; 7q11.2..
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William-Beuren region duplication syndrome; 7q11.23 microduplication syndrome; chromosome 7q11.23 duplication syndrome
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A chromosomal duplication syndrome that is charact.. [+]
A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7.
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spastic paraplegia with deafness
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Wells Jankovic Syndrome; Spastic paraparesis-deafn..
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Wells Jankovic Syndrome; Spastic paraparesis-deafness syndrome
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A hereditary spastic paraplegia that is characteri.. [+]
A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life.
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hot water epilepsy
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water immersion epilepsy; bathing epilepsy
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A reflex epilepsy that is characterized by seizure.. [+]
A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head.
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DeSanto-Shinawi syndrome
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WAC-related facial dysmorphism-developmental delay..
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WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome; Chromosome 10p12-p11 deletion syndrome; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
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A syndrome that is characterized by global develop.. [+]
A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11.
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ocular albinism with sensorineural deafness
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WS2-OA; autosomal recessive Waardenburg syndrome t..
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WS2-OA; autosomal recessive Waardenburg syndrome type 2 with ocular albinism; digenic Waardenburg syndrome/albinism; digenic Waardenburg syndrome/ocular albinism
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An ocular albinism that is characterized by deafne.. [+]
An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.
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congenital muscular dystrophy-dystroglycanopathy type A11
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11; MDDGA11
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
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congenital muscular dystrophy-dystroglycanopathy type A8
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8; MDDGA8
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
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congenital muscular dystrophy-dystroglycanopathy type A9
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Walker-Warburg syndrome or muscle-eye-brain diseas..
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Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9; MDDGA9
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.
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