{
    "disease_id": "DOID:0111270",
    "recommended_name": {
        "id": "DOID:0111270",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111270",
        "name": "isolated sulfite oxidase deficiency",
        "description": "An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111270",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111270",
            "name": "sulfocysteinuria",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "isolated sulfite oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "ISOD",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "Sulfocysteinuria",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "isolated sulfite oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "sulfite oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "sulfite oxidase deficiency, isolated",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "sulfocysteinuria",
            "description": ""
        },
        {
            "id": "MIM:272300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/272300",
            "name": "Sulfite oxidase deficiency, isolated",
            "description": "Sulfite oxidase deficiency, isolated"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111270"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111270",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111270",
            "categories": []
        },
        {
            "id": "MONDO:0010089",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "categories": []
        },
        {
            "id": "MIM:272300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/272300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IKF7-1",
            "uniprot_ac": "A0A0R4IKF7",
            "uniprot_id": "A0A0R4IKF7_DANRE",
            "refseq_ac": "NP_001313359",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfite oxidase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.8.3.1",
                    "type": "synonym"
                },
                {
                    "name": "sulfite oxidase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "suox",
                    "type": "recommended"
                },
                {
                    "name": "suox",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IKF7-1",
            "evidence": [
                {
                    "id": "0111270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R086-1",
            "uniprot_ac": "Q8R086",
            "uniprot_id": "SUOX_MOUSE",
            "refseq_ac": "NP_776094",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfite oxidase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.7.-.-",
                    "type": "synonym"
                },
                {
                    "name": "1.8.3.1",
                    "type": "synonym"
                },
                {
                    "name": "Nitrite reductase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "sulfite oxidase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "sulfite oxidase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Suox",
                    "type": "recommended"
                },
                {
                    "name": "SO",
                    "type": "synonym"
                },
                {
                    "name": "Suox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R086-1",
            "evidence": [
                {
                    "id": "0111270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51687-1",
            "uniprot_ac": "P51687",
            "uniprot_id": "SUOX_HUMAN",
            "refseq_ac": "NP_000447",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfite oxidase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.7.-.-",
                    "type": "synonym"
                },
                {
                    "name": "1.8.3.1",
                    "type": "synonym"
                },
                {
                    "name": "HSO",
                    "type": "synonym"
                },
                {
                    "name": "Nitrite reductase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "sulfite oxidase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SUOX",
                    "type": "recommended"
                },
                {
                    "name": "SUOX",
                    "type": "synonym"
                }
            ],
            "record_id": "P51687-1",
            "evidence": [
                {
                    "id": "272300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/272300"
                },
                {
                    "id": "0111270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07116-1",
            "uniprot_ac": "Q07116",
            "uniprot_id": "SUOX_RAT",
            "refseq_ac": "NP_112389",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfite oxidase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.7.-.-",
                    "type": "synonym"
                },
                {
                    "name": "1.8.3.1",
                    "type": "synonym"
                },
                {
                    "name": "Nitrite reductase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "sulfite oxidase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "sulfite oxidase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Suox",
                    "type": "recommended"
                },
                {
                    "name": "Suox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07116-1",
            "evidence": [
                {
                    "id": "0111270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWP4-1",
            "uniprot_ac": "Q9VWP4",
            "uniprot_id": "SUOX_DROME",
            "refseq_ac": "NP_573331",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfite oxidase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.8.3.1",
                    "type": "synonym"
                },
                {
                    "name": "CG7280-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein shopper",
                    "type": "synonym"
                },
                {
                    "name": "shop-PA",
                    "type": "synonym"
                },
                {
                    "name": "shopper",
                    "type": "synonym"
                },
                {
                    "name": "sulfite oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shop",
                    "type": "recommended"
                },
                {
                    "name": "CG7280",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7280",
                    "type": "synonym"
                },
                {
                    "name": "Suox",
                    "type": "synonym"
                },
                {
                    "name": "shop",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWP4-1",
            "evidence": [
                {
                    "id": "0111270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111270"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111270"
}