Disease Information for Osteogenesis imperfecta: Disease Mechanism & Classification

Ads
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)
Ads