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 )
- is a type of
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