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Disease Information for Osteogenesis imperfecta: Disease Mechanism & Classification

Class: CLASS/Pediatric disorders (ex)
: CLASS/Bone disorder (ex); CLASS/Skeletal (category)
Pathophysiology: Pathophysiology/Dominant and Autosomal recessive variants; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Infant/Child/Adult subtypes; Pathophysiology/Sporadic/hereditary/process
: Pathophysiology/Myxomatous degeneration heart valve
: Pathophysiology/Defective ossification; Pathophysiology/Osteoporosis Secondary; Pathophysiology/Type-1 Collagen Defect/deficient
: Pathophysiology/COL1A1 Gene Mutation; Pathophysiology/COL1A2 Gene mutation; Pathophysiology/Collagen gene (COL1A1) Mutation translocation; Pathophysiology/CRTAP Gene Mutation; Pathophysiology/Eight subtypes described (overlap); Pathophysiology/LEPRE Gene mutation; Pathophysiology/Varied Hereditary Pattern
Process: PROCESS/Autosomal dominant hereditary disease (ex).; PROCESS/Autosomal recessive disorder (ex); PROCESS/Genetic disorder/Spontaneous mutations/sporadic; PROCESS/Hereditary dominance/incomplete penetrance (ex).; PROCESS/Hereditofamilial (category); PROCESS/Multiple dysmorphic syndrome (ex); PROCESS/Two/multiple subsets/disease pattern; PROCESS/Variant expressions/Subsets (ex)
: PROCESS/Dystostosis/craniofacial (ex)

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