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acute neonatal citrullinemia type I
Disease Summary
Associated Targets ()
Mondo Description Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.
Mondo Term and Equivalent IDs
MONDO:0016600: acute neonatal citrullinemia type I
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:247546
UMLS:CN201793
MONDO:0016600
High level summary of knowledge for a disease, including descriptions and datasource references.