Disease Information for Williams syndrome/Elfin facies: Disease Mechanism & Classification

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Class
CLASS/Pediatric disorders (ex)
CLASS/Facial area manifestation/disorder (ex)
CLASS/Connective tissue/Mesenchyme matrix disorder
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Chromosome 7 gene defect
Pathophysiology/Chromosome gene/segment deletion (ex)
Pathophysiology/Gene locus 7q11.2
Pathophysiology/Gene locus 7q11.23
Pathophysiology/Gene locus Chromosome 7
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Sporadic/hereditary/process
Pathophysiology/Renal manifestations/involvement
Pathophysiology/Secondary Renal Failure
Pathophysiology/Elastin tissue defect
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Dystostosis/craniofacial (ex)
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