Disease Information for Alkaptonuria/Ochronosis: Disease Mechanism & Classification

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Class
CLASS/Pediatric disorders (ex)
CLASS/Axial skeletal involvement/disorder (ex)
CLASS/Cartilage involvement/disorder (ex)
CLASS/Hip involvement/disorder (ex)
CLASS/Joint disorder (ex).
CLASS/Knee/Femur/Tibia involvement
CLASS/Lumbar spine involvement/disorder (ex)
CLASS/Shoulder involvement/disorder (ex)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Aromatic-aminoacid metabolic disorder
Pathophysiology/Catabolism tyrosine/phenylalanine product (HGAcid)
Pathophysiology/Collagen storage deposits/defects
Pathophysiology/Gene locus/AKU 3q21-q23
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/HGAcid oxidase defect/Liver/Kidney/Prostate
Pathophysiology/Homogentisic acid oxygenase defect
Pathophysiology/Inhibition of collagen-lysyl hydroxylase (HGAcid)
Pathophysiology/Tyrosine metabolic pathway disease
Pathophysiology/Brittle cartilage effect
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
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