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DOID:0070342 - adult-onset type II citrullinemia
Disease Ontology Definition:A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
Synonyms: citrin deficiency, adolescent- or adult-onset citrin deficiency, CTLN2
Xenbase Genes
:
slc25a13
| 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)