Disease Information for Beckwith-Wiedemann Syndrome: Disease Mechanism & Classification

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Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Multisystem/organ involvement/pathology (ex)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Asymmetric deformities
Pathophysiology/Chromosome gene locus 11 (11p15) region
Pathophysiology/Dominant inheritance kindred/variety
Pathophysiology/Gene locus 11p15.5
Pathophysiology/Gene locus 5q35.3
Pathophysiology/Gene locus Chromosome 11
Pathophysiology/Gene locus Chromosome 5
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Human p57(KIP2)at 11p15.5 involved
Pathophysiology/IGF2 (insulin-like growth factor II) gene involved
Pathophysiology/Intractable neonatal hypoglycemia
Pathophysiology/Pre-cancerous condition
Pathophysiology/Sporadic/hereditary/process
Pathophysiology/Leydig cell hypertrophy child
Pathophysiology/CTSA (Cathepsin A) Gene Mutation
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Constitutional/essential disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary dominance/incomplete penetrance (ex).
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
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