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immune system disease
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DOID_2914 |
[A disease of anatomical entity that is located_in the immune system.] |
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Cowden syndrome 4
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DOID_0081000 |
[A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23.] |
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Cowden syndrome 5
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DOID_0081001 |
[A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26.] |
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obsolete lymphoid tissue disease
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DOID_70 |
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torticollis
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SYMP_0000617 |
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abnormal posture
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SYMP_0000618 |
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loss of height
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SYMP_0000616 |
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fever
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SYMP_0000613 |
[A neurological and physiological symptom that is characterized by a rise of body temperature above the normal, whether as a natural response (as to infection) or artificially induced for therapeutic reasons.] |
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periumbilic abdominal pain
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SYMP_0000611 |
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abdominal pain
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SYMP_0000457 |
[A pain that is characterized by occurring in the abdomen, i.e. between the chest and groin.] |
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d-block element atom
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CHEBI_33561 |
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metal atom
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CHEBI_33521 |
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transition element atom
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CHEBI_27081 |
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periumbilic abdominal rigidity
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SYMP_0000612 |
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abdominal rigidity
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SYMP_0000454 |
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bent bone dysplasia syndrome 2
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DOID_0060993 |
[A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13.] |
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bone remodeling disease
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DOID_0080005 |
[A bone disease that results_in formation or resorption abnormalities located_in bone.] |
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miliaria profunda
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DOID_0070320 |
[A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.] |
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miliaria
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DOID_1382 |
[A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.] |
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encephalopathy due to defective mitochondrial and peroxisomal fission 2
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DOID_0060994 |
[A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36.] |