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About:
Ornithine carbamoyltransferase deficiency
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Type:
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New Facet based on Instances of this Class
Attributes
Values
label
ornithine carbamoyltransferase deficiency
COEXISTS_WITH
Disease
Mutant
skin disorder
Reye Syndrome
Coma in the newborn
ASSOCIATED_WITH
Mutation
urea cycle
glutamate dehydrogenase activity
schema:identifier
c0268542
ISA
Disease
Hereditary Diseases
Complication
Metabolic Diseases
Hyperammonemia
Congenital chromosomal disease
CAUSES
Disease
Vomiting
Encephalopathies
Hyperinsulinism
comatose
Hyperammonemia
PROCESS_OF
C0030705
Family
Human
Child
Adult
Females
Males
Mothers
Woman
Mus
Infant
Girls
House mice
Recipient, Transplant
Offspring
Brothers
Infant, Newborn
Boys
sibling
parent
Donor person
Sister
Older child
AFFECTS
Family
Child
Recipient, Transplant
Excretory function
Crisis
Deficiency of orotate phosphoribosyltransferase
is
NEG_LOCATION_OF
of
Liver
is
LOCATION_OF
of
Liver
White Matter
Rectal mucous membrane
Liver tissue
Brain region
is
COEXISTS_WITH
of
Disease
Pathogenesis
Impaired cognition
Encephalopathies
Brain Edema
Blood Coagulation Disorders
neuron loss
Acute encephalopathy
Mitochondrial Diseases
Hyperammonemia
Methylmalonic acidemia
Lethargy
Level of consciousness
Propionic acidemia
Isovaleryl-CoA dehydrogenase deficiency
is
ASSOCIATED_WITH
of
Seizures
Malaise
Glutamine
Ammonia
Nitrogen
Glutamate Dehydrogenase
Genotype
Germinal mosaicism
SEC14L2
is
DIAGNOSES
of
Biopsy
Ammonia measurement
Plasma ammonia measurement
is
CAUSES
of
Mutation
Gene Mutation
Organism
Ammonia
Recurrence
Enzyme Deficiency
Hyperammonemia
is
TREATS
of
Therapeutic procedure
Detection
Screening procedure
Intervention regimes
Amino Acids
Procedures
Transplantation
gene therapy
Anesthetics
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