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tick-borne encephalitis
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DOID_0050175 |
[A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus (Orthoflavivirus encephalitidis), 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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autosomal recessive limb-girdle muscular dystrophy type 2J
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DOID_0110283 |
[An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN).] |
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Kunjin encephalitis
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DOID_0050174 |
[A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus (Orthoflavivirus nilense), which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy.] |
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autosomal recessive limb-girdle muscular dystrophy type 2L
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DOID_0110284 |
[An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.] |
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autosomal recessive limb-girdle muscular dystrophy type 2G
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DOID_0110281 |
[An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP).] |
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autosomal recessive limb-girdle muscular dystrophy type 2H
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DOID_0110282 |
[An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.] |
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Orthoflavivirus zikaense
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NCBITaxon_3048459 |
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arm bone
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UBERON_0003460 |
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Powassan encephalitis
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DOID_0050179 |
[A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus (Orthoflavivirus powassanense), which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.] |
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obsolete complex genetic disease
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DOID_0050178 |
[A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele).] |
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autosomal recessive limb-girdle muscular dystrophy type 2F
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DOID_0110280 |
[An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD).] |
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muscle of leg
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UBERON_0001383 |
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autosomal recessive limb-girdle muscular dystrophy type 2Y
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DOID_0110289 |
[An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.] |
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obsolete snowshoe hare encephalitis
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DOID_0050171 |
[A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures.] |
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autosomal recessive limb-girdle muscular dystrophy type 2S
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DOID_0110287 |
[An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.] |
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obsolete Jamestown Canyon encephalitis
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DOID_0050170 |
[A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures.] |
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autosomal recessive limb-girdle muscular dystrophy type 2W
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DOID_0110288 |
[An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14.] |
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obsolete influenza encephalopathy
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DOID_0050162 |
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Schizaeales
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NCBITaxon_693762 |
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autosomal recessive limb-girdle muscular dystrophy type 2A
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DOID_0110275 |
[An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.] |