{
    "disease_id": "DOID:0070340",
    "recommended_name": {
        "id": "DOID:0070340",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070340",
        "name": "classic citrullinemia",
        "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": [
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "citrullinemia type I",
            "description": "Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I)."
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "citrullinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "ASS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "CTLN1",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "argininosuccinate synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "argininosuccinate synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "argininosuccinic acid synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "argininosuccinic acid synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "citrullinemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "citrullinemia type I",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "classic citrullinemia",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "CTNL1",
            "description": ""
        },
        {
            "id": "MONDO:0008988",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "name": "citrullinemia 1",
            "description": ""
        },
        {
            "id": "MIM:215700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/215700",
            "name": "Citrullinemia 1",
            "description": "Citrullinemia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070340"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070340",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070340",
            "categories": []
        },
        {
            "id": "MONDO:0008988",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008988",
            "categories": []
        },
        {
            "id": "MIM:215700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/215700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q66I24-1",
            "uniprot_ac": "Q66I24",
            "uniprot_id": "ASSY_DANRE",
            "refseq_ac": "NP_001004603",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Argininosuccinate synthase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.5",
                    "type": "synonym"
                },
                {
                    "name": "Citrulline--aspartate ligase",
                    "type": "synonym"
                },
                {
                    "name": "argininosuccinate synthase",
                    "type": "synonym"
                },
                {
                    "name": "argininosuccinate synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "citrulline--aspartate ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ass1",
                    "type": "recommended"
                },
                {
                    "name": "ass1",
                    "type": "synonym"
                },
                {
                    "name": "ass",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb95a04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc01e08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92051",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66I24-1",
            "evidence": [
                {
                    "id": "0070340",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070340"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16460-1",
            "uniprot_ac": "P16460",
            "uniprot_id": "ASSY_MOUSE",
            "refseq_ac": "NP_031520",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Argininosuccinate synthase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.5",
                    "type": "synonym"
                },
                {
                    "name": "Citrulline--aspartate ligase",
                    "type": "synonym"
                },
                {
                    "name": "argininosuccinate synthase",
                    "type": "synonym"
                },
                {
                    "name": "arginosuccinate synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "citrulline--aspartate ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ass1",
                    "type": "recommended"
                },
                {
                    "name": "ASS",
                    "type": "synonym"
                },
                {
                    "name": "Ass-1",
                    "type": "synonym"
                },
                {
                    "name": "Ass1",
                    "type": "synonym"
                },
                {
                    "name": "Ass",
                    "type": "synonym"
                },
                {
                    "name": "fold",
                    "type": "synonym"
                }
            ],
            "record_id": "P16460-1",
            "evidence": [
                {
                    "id": "0070340",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070340"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00966-1",
            "uniprot_ac": "P00966",
            "uniprot_id": "ASSY_HUMAN",
            "refseq_ac": "NP_000041",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Argininosuccinate synthase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.5",
                    "type": "synonym"
                },
                {
                    "name": "Citrulline--aspartate ligase",
                    "type": "synonym"
                },
                {
                    "name": "argininosuccinate synthase",
                    "type": "synonym"
                },
                {
                    "name": "argininosuccinate synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "citrulline-aspartate ligase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ASS1",
                    "type": "recommended"
                },
                {
                    "name": "ASS1",
                    "type": "synonym"
                },
                {
                    "name": "ASS",
                    "type": "synonym"
                },
                {
                    "name": "CTLN1",
                    "type": "synonym"
                }
            ],
            "record_id": "P00966-1",
            "evidence": [
                {
                    "id": "215700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/215700"
                },
                {
                    "id": "0070340",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070340"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22768-1",
            "uniprot_ac": "P22768",
            "uniprot_id": "ASSY_YEAST",
            "refseq_ac": "NP_014583",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Argininosuccinate synthase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.5",
                    "type": "synonym"
                },
                {
                    "name": "Citrulline--aspartate ligase",
                    "type": "synonym"
                },
                {
                    "name": "argininosuccinate synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARG1",
                    "type": "recommended"
                },
                {
                    "name": "ARG10",
                    "type": "synonym"
                },
                {
                    "name": "ARG1",
                    "type": "synonym"
                },
                {
                    "name": "O1228",
                    "type": "synonym"
                }
            ],
            "record_id": "P22768-1",
            "evidence": [
                {
                    "id": "0070340",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070340"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09034-1",
            "uniprot_ac": "P09034",
            "uniprot_id": "ASSY_RAT",
            "refseq_ac": "NP_037289",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Argininosuccinate synthase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.5",
                    "type": "synonym"
                },
                {
                    "name": "Citrulline--aspartate ligase",
                    "type": "synonym"
                },
                {
                    "name": "argininosuccinate synthase",
                    "type": "synonym"
                },
                {
                    "name": "argininosuccinate synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "arginosuccinate synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "citrulline--aspartate ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ass1",
                    "type": "recommended"
                },
                {
                    "name": "ASSA",
                    "type": "synonym"
                },
                {
                    "name": "Ass1",
                    "type": "synonym"
                },
                {
                    "name": "Ass",
                    "type": "synonym"
                }
            ],
            "record_id": "P09034-1",
            "evidence": [
                {
                    "id": "0070340",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070340"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O97069-1",
            "uniprot_ac": "O97069",
            "uniprot_id": "ASSY_DROME",
            "refseq_ac": "NP_001262324",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Argininosuccinate synthase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.4.5",
                    "type": "synonym"
                },
                {
                    "name": "Ass-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG1315-PB",
                    "type": "synonym"
                },
                {
                    "name": "Citrulline--aspartate ligase",
                    "type": "synonym"
                },
                {
                    "name": "argininosuccinate synthase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "argininosuccinate synthase-like",
                    "type": "synonym"
                },
                {
                    "name": "argininosuccinate synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ass",
                    "type": "recommended"
                },
                {
                    "name": "Ass",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS00004.14",
                    "type": "synonym"
                },
                {
                    "name": "CG1315",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1315",
                    "type": "synonym"
                }
            ],
            "record_id": "O97069-1",
            "evidence": [
                {
                    "id": "0070340",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070340"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070340"
}