classic citrullinemia

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Summary

Literature (0)

DOID:0070340 - classic citrullinemia

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

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ass1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008988 - citrullinemia type I

MONDO:0008988 - citrullinemia type I

MIM:

MIM:215700 - CITRULLINEMIA, CLASSIC

MIM:215700 - CITRULLINEMIA, CLASSIC

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): citrullinemia (is_a)