Disease Information for Thymic aplasia, congenital (DiGeorges): Disease Mechanism & Classification

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Class
CLASS/Cellular Immune System Disorder (ex)
CLASS/Humoral Immune System Disorder (ex)
CLASS/Pediatric disorders (ex)
CLASS/Spleen/thymus/RES/immune system (category)
CLASS/Thymus disorder (ex)
Pathophysiology
Pathophysiology/Chromosome gene/segment deletion (ex)
Pathophysiology/Gene locus 10p14-p13
Pathophysiology/Gene locus 22q11
Pathophysiology/Gene locus 22q11.2
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene locus chromosome 22
Pathophysiology/Gene locus Chromosome 22q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Tbx1 on chromosome 22 (deletion)
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Failure 3rd,4th fetal pharyngeal pouches
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Cellular immune def/Humoral immune OK
Pathophysiology/Combined T-cell/B-cell immune deficiency
Pathophysiology/Decreased T Cells
Pathophysiology/Immune physiology/defective
Process
PROCESS/Congenital/developmental (category)
PROCESS/Dysplasia/aplasia (ex)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Dystostosis/craniofacial (ex)
PROCESS/Immunodeficiency disorder/Primary
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