Search Ontology:
Human Disease

classic citrullinemia

Term ID
DOID:0070340
Synonyms
Definition
A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34. https://www.omim.org/entry/215700
References
Ontology
Human Disease   ( DOID:0070340 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models