{
    "disease_id": "DOID:0070453",
    "recommended_name": {
        "id": "DOID:0070453",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070453",
        "name": "xanthinuria type II",
        "description": "A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12."
    },
    "synonyms": [
        {
            "id": "DOID:0070453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070453",
            "name": "XAN2",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "xanthinuria type II",
            "description": "Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic."
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "XAN2",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "XDH and AOX dual deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "xanthine dehydrogenase and aldehyde oxidase, combined deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "type 2 xanthinuria",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "type II xanthinuria",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "xanthine dehydrogenase and aldehyde oxidase combined deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0011346",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "name": "xanthinuria type 2",
            "description": ""
        },
        {
            "id": "MIM:603592",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603592",
            "name": "Xanthinuria 2",
            "description": "Xanthinuria 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070453"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070453",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070453",
            "categories": []
        },
        {
            "id": "MONDO:0011346",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011346",
            "categories": []
        },
        {
            "id": "MIM:603592",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603592",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2VD33-1",
            "uniprot_ac": "A2VD33",
            "uniprot_id": "MOCOS_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdenum cofactor sulfurase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.9",
                    "type": "synonym"
                },
                {
                    "name": "MCS",
                    "type": "synonym"
                },
                {
                    "name": "MOS",
                    "type": "synonym"
                },
                {
                    "name": "MoCo sulfurase",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor sulfurtransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mocos",
                    "type": "recommended"
                },
                {
                    "name": "MCS",
                    "type": "synonym"
                },
                {
                    "name": "MOCOS",
                    "type": "synonym"
                },
                {
                    "name": "MOS",
                    "type": "synonym"
                },
                {
                    "name": "im:7142948",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110784",
                    "type": "synonym"
                }
            ],
            "record_id": "A2VD33-1",
            "evidence": [
                {
                    "id": "0070453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14CH1-1",
            "uniprot_ac": "Q14CH1",
            "uniprot_id": "MOCOS_MOUSE",
            "refseq_ac": "NP_081055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdenum cofactor sulfurase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.9",
                    "type": "synonym"
                },
                {
                    "name": "MCS",
                    "type": "synonym"
                },
                {
                    "name": "MOS",
                    "type": "synonym"
                },
                {
                    "name": "MoCo sulfurase",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor sulfurtransferase",
                    "type": "synonym"
                },
                {
                    "name": "moCo sulfurase",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor sulfurase",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor sulfurtransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mocos",
                    "type": "recommended"
                },
                {
                    "name": "1110018O12Rik",
                    "type": "synonym"
                },
                {
                    "name": "HMCS",
                    "type": "synonym"
                },
                {
                    "name": "MCS",
                    "type": "synonym"
                },
                {
                    "name": "MOS",
                    "type": "synonym"
                },
                {
                    "name": "Mocos",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14CH1-1",
            "evidence": [
                {
                    "id": "0070453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96EN8-1",
            "uniprot_ac": "Q96EN8",
            "uniprot_id": "MOCOS_HUMAN",
            "refseq_ac": "NP_060417",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdenum cofactor sulfurase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.9",
                    "type": "synonym"
                },
                {
                    "name": "MCS",
                    "type": "synonym"
                },
                {
                    "name": "MOS",
                    "type": "synonym"
                },
                {
                    "name": "MoCo sulfurase",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor sulfurtransferase",
                    "type": "synonym"
                },
                {
                    "name": "hMCS",
                    "type": "synonym"
                },
                {
                    "name": "human molybdenum cofactor sulfurase",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor sulfurase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MOCOS",
                    "type": "recommended"
                },
                {
                    "name": "HMCS",
                    "type": "synonym"
                },
                {
                    "name": "MCS",
                    "type": "synonym"
                },
                {
                    "name": "MOCOS",
                    "type": "synonym"
                },
                {
                    "name": "MOS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96EN8-1",
            "evidence": [
                {
                    "id": "603592",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603592"
                },
                {
                    "id": "0070453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L8U6-1",
            "uniprot_ac": "A0ABK0L8U6",
            "uniprot_id": "A0ABK0L8U6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdenum cofactor sulfurase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.9",
                    "type": "synonym"
                },
                {
                    "name": "MCS",
                    "type": "synonym"
                },
                {
                    "name": "MOS",
                    "type": "synonym"
                },
                {
                    "name": "MoCo sulfurase",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor sulfurtransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mocos",
                    "type": "recommended"
                },
                {
                    "name": "MOCOS",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L8U6-1",
            "evidence": [
                {
                    "id": "0070453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRA2-1",
            "uniprot_ac": "Q9VRA2",
            "uniprot_id": "MOCOS_DROME",
            "refseq_ac": "NP_001285493",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdenum cofactor sulfurase",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.9",
                    "type": "synonym"
                },
                {
                    "name": "CG1692-PB",
                    "type": "synonym"
                },
                {
                    "name": "MCS",
                    "type": "synonym"
                },
                {
                    "name": "MOS",
                    "type": "synonym"
                },
                {
                    "name": "Ma-l",
                    "type": "synonym"
                },
                {
                    "name": "MoCo sulfurase",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor sulfurtransferase",
                    "type": "synonym"
                },
                {
                    "name": "Protein maroon-like",
                    "type": "synonym"
                },
                {
                    "name": "bronzy",
                    "type": "synonym"
                },
                {
                    "name": "mal-PB",
                    "type": "synonym"
                },
                {
                    "name": "maroon-like, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "maroonlike",
                    "type": "synonym"
                },
                {
                    "name": "section 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mal",
                    "type": "recommended"
                },
                {
                    "name": "5",
                    "type": "synonym"
                },
                {
                    "name": "CG1692",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1692",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1692",
                    "type": "synonym"
                },
                {
                    "name": "SRF",
                    "type": "synonym"
                },
                {
                    "name": "bz",
                    "type": "synonym"
                },
                {
                    "name": "ma-l",
                    "type": "synonym"
                },
                {
                    "name": "mal",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRA2-1",
            "evidence": [
                {
                    "id": "0070453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070453"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070453"
}