adult-onset type II citrullinemia

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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

In OMIM:

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

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

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

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

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

Parent(s): citrullinemia (is_a)