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Adult-Onset Type Ii Citrullinemia

Disease ID: disease_node_13242

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DbxrefMIM:603471
SubclassofDOID_9273
Data SourceDOID
Synonymscitrin deficiency
Doid Labeladult-onset type II citrullinemia
Doid DescriptionA citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
Existence Starts DuringHP_0003581
Disease Node Iddisease_node_13242
Doid IdDOID_0070342
LabelAdult-Onset Type Ii Citrullinemia