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DO Term : adult-onset type II citrullinemia [DOID:0070342] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
603471,
citrin deficiency,
OMIM:603471

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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