Les information sur Déficit en ornithine carbamyl transférase: Mécanisme de Maladie et Classification

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Classe de Maladie
CLASS/Pediatric disorders (ex)
Pathophysiologie
Pathophysiology/Early defect urea cycle
Pathophysiology/Gene locus 11p21.1
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Heterozygous females/X-link/effected
Pathophysiology/Homozygous/dominant lethal
Pathophysiology/Maternal inheritance
Pathophysiology/Single gene locus indentified
Pathophysiology/Urea cycle metabolic defect
Pathophysiology/Mitochondrial lesion
Processus
Amino-acidurie
Maladies rares
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Episodic disorder (ex)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/X-Linked dominant inheritance (ex)
Maladies mitochondriales
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