neonatal-onset type II citrullinemia Disease Ontology Browser

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Disease Ontology Browser

neonatal-onset type II citrullinemia (DOID:0070341)
Alliance: disease page
Synonyms: neonatal-onset type 2 citrullinemia
Alt IDs: OMIM:605814
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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