{
    "disease_id": "DOID:0111165",
    "recommended_name": {
        "id": "DOID:0111165",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111165",
        "name": "molybdenum cofactor deficiency",
        "description": "A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage."
    },
    "synonyms": [
        {
            "id": "DOID:0111165",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111165",
            "name": "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase",
            "description": ""
        },
        {
            "id": "DOID:0111165",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111165",
            "name": "MOCOD",
            "description": ""
        },
        {
            "id": "MONDO:0009643",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009643",
            "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type A",
            "description": ""
        },
        {
            "id": "MONDO:0009643",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009643",
            "name": "MOCOD type A",
            "description": ""
        },
        {
            "id": "MONDO:0009643",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009643",
            "name": "MOCODA",
            "description": ""
        },
        {
            "id": "MONDO:0009643",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009643",
            "name": "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A",
            "description": ""
        },
        {
            "id": "MONDO:0009643",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009643",
            "name": "molybdenum cofactor deficiency A",
            "description": ""
        },
        {
            "id": "MONDO:0009643",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009643",
            "name": "molybdenum cofactor deficiency, complementation group type a",
            "description": ""
        },
        {
            "id": "MONDO:0009643",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009643",
            "name": "molybdenum cofactor deficiency, complementation group A",
            "description": ""
        },
        {
            "id": "MIM:252150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252150",
            "name": "Molybdenum cofactor deficiency A",
            "description": "Molybdenum cofactor deficiency A"
        }
    ],
    "children": [
        {
            "id": "DOID:0111163",
            "label": "molybdenum cofactor deficiency type B",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111164",
            "label": "molybdenum cofactor deficiency type A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111166",
            "label": "molybdenum cofactor deficiency type C",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111164",
        "DOID:0111166",
        "DOID:0111165",
        "DOID:0111163"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111165",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111165",
            "categories": []
        },
        {
            "id": "MONDO:0009643",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009643",
            "categories": []
        },
        {
            "id": "MIM:252150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/252150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9NZB8-1",
            "uniprot_ac": "Q9NZB8",
            "uniprot_id": "MOCS1_HUMAN",
            "refseq_ac": "NP_001068566",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdenum cofactor biosynthesis protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Cell migration-inducing gene 11 protein",
                    "type": "synonym"
                },
                {
                    "name": "MOCS1A enzyme",
                    "type": "synonym"
                },
                {
                    "name": "MOCS1A",
                    "type": "synonym"
                },
                {
                    "name": "MOCS1B",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor biosynthesis protein A",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor biosynthesis protein C",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor synthesis-step 1 protein A-B",
                    "type": "synonym"
                },
                {
                    "name": "cell migration-inducing gene 11 protein",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor biosynthesis protein 1 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor biosynthesis protein A",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor synthesis-step 1 protein A-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MOCS1",
                    "type": "recommended"
                },
                {
                    "name": "MIG11",
                    "type": "synonym"
                },
                {
                    "name": "MOCOD",
                    "type": "synonym"
                },
                {
                    "name": "MOCS1A",
                    "type": "synonym"
                },
                {
                    "name": "MOCS1B",
                    "type": "synonym"
                },
                {
                    "name": "MOCS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZB8-1",
            "evidence": [
                {
                    "id": "252150",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/252150"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111165"
}