neonatal-onset type II citrullinemia

Summary

DOID:0070341 - neonatal-onset type II citrullinemia

Disease Ontology 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.

Synonyms: neonatal-onset type 2 citrullinemia

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc25a13

MIM:

MIM:605814 - CITRULLINEMIA, TYPE II, NEONATAL-ONSET

MIM:605814 - CITRULLINEMIA, TYPE II, NEONATAL-ONSET

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), citrullinemia (is_a)