Search Ontology:
Human Disease

neonatal-onset type II citrullinemia

Term ID
DOID:0070341
Synonyms
  • neonatal intrahepatic cholestasis
  • neonatal-onset type 2 citrullinemia
Definition
A citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. https://pubmed.ncbi.nlm.nih.gov/21424115/
References
Ontology
Human Disease   ( DOID:0070341 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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