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Disease Information for Treacher Collins syndrome: Disease Mechanism & Classification

Class: CLASS/Jablonski/NIH Archive Anomalies Database; CLASS/Pediatric disorders (ex)
: CLASS/Faces-cranio online database (ex)
: CLASS/Mandible involvement/disorder (ex); CLASS/Palate disorder (ex)
: CLASS/Zygomatic arch/mastoid/zygoma disorder (ex)
: CLASS/Pinna/External ear involvement/disorder (ex)
Pathophysiology: Pathophysiology/Chromosomal translocation; Pathophysiology/Chromosome gene/segment deletion (ex); Pathophysiology/Dominant inheritance kindred/variety; Pathophysiology/Gene locus 5q32-q33.1; Pathophysiology/Gene locus Chromosome 3p; Pathophysiology/Gene locus Chromosome 4p; Pathophysiology/Gene locus Chromosome 5; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Symmetric deformities
: Pathophysiology/Congenital facial dysplasia/dysostosis; Pathophysiology/Facial dysplasia syndrome
: Pathophysiology/CTSA (Cathepsin A) Gene Mutation; Pathophysiology/Maternal Chromosome mutation
: Pathophysiology/Hereditary deafness
Process: PROCESS/Autosomal dominant hereditary disease (ex).; PROCESS/Congenital/developmental (category); PROCESS/Dysplasia/aplasia (ex); PROCESS/Eponymic (category); PROCESS/Genetic disorder/Spontaneous mutations/sporadic; PROCESS/Genetic expressivity variable (ex); PROCESS/Hereditary Multiple anomalies syndrome [EX]; PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Rare disease (ex)
: PROCESS/Dystostosis/craniofacial (ex)
: PROCESS/Dysplasia disorder/Syndromes (ex)

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