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Disease Information for Tyrosinemia, hereditary: Disease Mechanism & Classification

Class: CLASS/Pediatric disorders (ex)
: CLASS/Liver involvement/disorder (ex); CLASS/Liver/gallbladder/ducts (category)
Pathophysiology: Pathophysiology/Gene locus 12q24; Pathophysiology/Gene locus 12q24-qter; Pathophysiology/Gene locus 15q23; Pathophysiology/Gene locus 15q25; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Toxic metabolites of tyrosine/hepatic accumulation; Pathophysiology/Tyrosine metabolic pathway disease
: Pathophysiology/Hepatic manifestations/involvement
: Pathophysiology/Fumarylacetoacetase deficiency; Pathophysiology/Fumarylacetoacetate accumulates; Pathophysiology/Gene locus 15q23-q25; Pathophysiology/Gene locus 1622.1-q22.3; Pathophysiology/Hydroxyphenylpyruvate dehydrogenase defect/variant III; Pathophysiology/Tyrosine transaminase defect/Variant type II
Process: PROCESS/Aminoacid metabolic disorder (ex); PROCESS/Autosomal recessive disorder (ex); PROCESS/Enzyme defect/Metabolic disorder (ex); PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Extremely rare disease; PROCESS/INCIDENCE/Rare disease (ex); PROCESS/Metabolic/storage disorder (category); PROCESS/Two/multiple subsets/disease pattern; PROCESS/Variant expressions/Subsets (ex)

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