adult-onset type II citrullinemia

Term ID

DOID:0070342

Synonyms

• citrin deficiency

Definition

A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. https://www.omim.org/entry/603471?search=603471

References

• OMIM:603471

Ontology

Human Disease   ( DOID:0070342 )