Affected Systems |
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behavior/neurological
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√
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abnormal motor capabilities/coordination/movement
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√
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abnormal involuntary movement
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√
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ataxia
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√
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impaired coordination
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√
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impaired limb coordination
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√
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abnormal posture
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√
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abnormal gait
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√
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paraparesis
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√
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seizures
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√
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convulsive seizures
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√
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cardiovascular system
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√
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√
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√
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√
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N
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cardiovascular system phenotype
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N
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retroesophageal right subclavian artery
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√
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vascular ring
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√
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abnormal ascending aorta morphology
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√
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abnormal brain vasculature morphology
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√
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patent ductus arteriosus
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√
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√
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ventricular septal defect
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√
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√
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intracranial hemorrhage
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√
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√
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cerebellum hemorrhage
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√
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intracerebral hemorrhage
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√
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√
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spinal hemorrhage
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√
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cellular
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√
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√
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√
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√
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√
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patent ductus arteriosus
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√
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√
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abnormal cell adhesion
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√
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abnormal dendritic cell differentiation
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√
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impaired macrophage phagocytosis
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√
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√
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digestive/alimentary system
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N
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√
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√
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digestive/alimentary phenotype
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N
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abnormal intestinal epithelium morphology
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√
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crypts of Lieberkuhn abscesses
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√
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intestinal ulcer
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√
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increased intestinal adenocarcinoma incidence
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√
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large intestinal inflammation
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√
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colitis
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√
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√
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endocrine/exocrine glands
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√
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crypts of Lieberkuhn abscesses
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√
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growth/size/body
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√
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weight loss
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√
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hematopoietic system
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√
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√
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impaired macrophage phagocytosis
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√
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√
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abnormal leukocyte morphology
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√
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abnormal dendritic cell differentiation
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√
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decreased regulatory T cell number
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√
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increased regulatory T cell number
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√
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homeostasis/metabolism
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√
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abnormal interferon level
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√
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abnormal interleukin level
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√
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abnormal tumor necrosis factor level
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√
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immune system
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√
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√
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√
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abnormal immune system morphology
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√
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abnormal leukocyte morphology
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√
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abnormal dendritic cell differentiation
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√
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decreased regulatory T cell number
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√
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increased regulatory T cell number
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√
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enlarged Peyer's patches
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√
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enlarged mesenteric lymph nodes
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√
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abnormal immune system physiology
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√
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impaired macrophage phagocytosis
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√
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√
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abnormal interferon level
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√
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abnormal interleukin level
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√
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abnormal tumor necrosis factor level
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√
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increased autoantibody level
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√
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√
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increased inflammatory response
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√
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large intestinal inflammation
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√
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colitis
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√
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√
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increased susceptibility to bacterial infection induced morbidity/mortality
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√
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mortality/aging
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√
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√
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√
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√
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increased susceptibility to bacterial infection induced morbidity/mortality
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√
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premature death
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√
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√
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lethality throughout fetal growth and development, complete penetrance
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√
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postnatal lethality, incomplete penetrance
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√
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muscle
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√
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muscle phenotype
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N
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muscle hypertonia
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√
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neoplasm
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√
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increased intestinal adenocarcinoma incidence
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√
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nervous system
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√
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√
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nervous system phenotype
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N
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seizures
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√
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convulsive seizures
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|
√
|
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abnormal brain vasculature morphology
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|
|
|
|
√
|
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|
|
intracranial hemorrhage
|
|
|
|
|
|
√
|
√
|
|
|
cerebellum hemorrhage
|
|
|
|
|
|
|
√
|
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|
intracerebral hemorrhage
|
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|
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|
|
√
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√
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spinal hemorrhage
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√
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abnormal glial cell morphology
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√
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gliosis
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√
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abnormal embryonic/fetal subventricular zone morphology
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√
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axon degeneration
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√
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axonal dystrophy
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√
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demyelination
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√
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renal/urinary system
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√
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abnormal renal/urinary system physiology
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√
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