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Alzheimer's disease 8
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DOID_0110041 |
[An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.] |
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familial progressive hyperpigmentation with or without hypopigmentation
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DOID_0111373 |
[A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32.] |
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Alzheimer's disease 3
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DOID_0110042 |
[An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24.] |
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apolipoprotein C-III deficiency
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DOID_0111370 |
[A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3.] |
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cholesterol-ester transfer protein deficiency
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DOID_0111368 |
[A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood.] |
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cardiac muscle tissue of atrium
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UBERON_0004490 |
|
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Alzheimer's disease 4
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DOID_0110040 |
[An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42.] |
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isolated hyperchlorhidrosis
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DOID_0111371 |
[A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2.] |
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Apodemus agrarius
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NCBITaxon_39030 |
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Alzheimer's disease 17
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DOID_0110049 |
[An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.] |
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fetal akinesia deformation sequence syndrome 2
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DOID_0111378 |
[A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2.] |
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Alzheimer's disease 14
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DOID_0110047 |
[An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.] |
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Alzheimer's disease 15
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DOID_0110048 |
[An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24.] |
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fetal akinesia deformation sequence syndrome 4
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DOID_0111379 |
[A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2.] |
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celery food product
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FOODON_00001704 |
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plant stem or spear food product
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FOODON_00002156 |
|
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plant food product
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FOODON_00001015 |
|
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Alzheimer's disease 12
|
DOID_0110045 |
[An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.] |
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fetal akinesia deformation sequence syndrome 3
|
DOID_0111376 |
[A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3.] |
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leaf celery food product
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FOODON_00001705 |
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