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Summary Literature (0)
DOID:0070342 - adult-onset type II citrullinemia

Disease Ontology Definition:A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.

Synonyms: citrin deficiency

Xenbase Genes : slc25a13


MIM:
MIM:603471 - CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): citrullinemia (is_a)