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DO Term : classic citrullinemia [DOID:0070340] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.

synonyms:
215700,
OMIM:215700

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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