{
    "disease_id": "DOID:0111164",
    "recommended_name": {
        "id": "DOID:0111164",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111164",
        "name": "molybdenum cofactor deficiency type A",
        "description": "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0111164",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111164",
            "name": "MOCOD type A",
            "description": ""
        },
        {
            "id": "DOID:0111164",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111164",
            "name": "MOCODA",
            "description": ""
        },
        {
            "id": "DOID:0111164",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111164",
            "name": "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A",
            "description": ""
        },
        {
            "id": "DOID:0111164",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111164",
            "name": "molybdenum cofactor deficiency complementation group A",
            "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_list": [
        "DOID:0111164"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111164",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111164",
            "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": "A0A8M3AJ79-1",
            "uniprot_ac": "A0A8M3AJ79",
            "uniprot_id": "A0A8M3AJ79_DANRE",
            "refseq_ac": "XP_009291513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdenum cofactor biosynthesis protein 1",
                    "type": "recommended"
                },
                {
                    "name": "4.1.99.22",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.17",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor biosynthesis protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mocs1",
                    "type": "recommended"
                },
                {
                    "name": "mocs1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AJ79-1",
            "evidence": [
                {
                    "id": "0111164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RKZ7-1",
            "uniprot_ac": "Q5RKZ7",
            "uniprot_id": "MOCS1_MOUSE",
            "refseq_ac": "NP_064426",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdenum cofactor biosynthesis protein 1",
                    "type": "recommended"
                },
                {
                    "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 biosynthesis protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor synthesis-step 1 proteins A and B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mocs1",
                    "type": "recommended"
                },
                {
                    "name": "3110045D15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mocs1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RKZ7-1",
            "evidence": [
                {
                    "id": "0111164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111164"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0111164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GKB1-1",
            "uniprot_ac": "A0A8I6GKB1",
            "uniprot_id": "A0A8I6GKB1_RAT",
            "refseq_ac": "NP_001400697",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdenum cofactor biosynthesis protein 1",
                    "type": "recommended"
                },
                {
                    "name": "4.1.99.22",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.17",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor biosynthesis protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mocs1",
                    "type": "recommended"
                },
                {
                    "name": "Mocs1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GKB1-1",
            "evidence": [
                {
                    "id": "0111164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IQF1-1",
            "uniprot_ac": "Q8IQF1",
            "uniprot_id": "MOCS1_DROME",
            "refseq_ac": "NP_788494",
            "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 biosynthesis protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CG33048-PC",
                    "type": "synonym"
                },
                {
                    "name": "MOCS1A",
                    "type": "synonym"
                },
                {
                    "name": "MOCS1B",
                    "type": "synonym"
                },
                {
                    "name": "Mocs1-PC",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor biosynthesis protein A",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor biosynthesis protein C",
                    "type": "synonym"
                },
                {
                    "name": "low xanthine dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor synthesis 1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor synthesis 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "peacefulness",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mocs1",
                    "type": "recommended"
                },
                {
                    "name": "CG33048",
                    "type": "synonym"
                },
                {
                    "name": "CG7858",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33048",
                    "type": "synonym"
                },
                {
                    "name": "MOCS1A",
                    "type": "synonym"
                },
                {
                    "name": "MOCS1B",
                    "type": "synonym"
                },
                {
                    "name": "MOCSI",
                    "type": "synonym"
                },
                {
                    "name": "Mocs1A-B",
                    "type": "synonym"
                },
                {
                    "name": "Mocs1A",
                    "type": "synonym"
                },
                {
                    "name": "Mocs1B",
                    "type": "synonym"
                },
                {
                    "name": "Mocs1",
                    "type": "synonym"
                },
                {
                    "name": "MocsI",
                    "type": "synonym"
                },
                {
                    "name": "Mosc1A+Mosc1B",
                    "type": "synonym"
                },
                {
                    "name": "lxd",
                    "type": "synonym"
                },
                {
                    "name": "mocsI",
                    "type": "synonym"
                },
                {
                    "name": "pfs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IQF1-1",
            "evidence": [
                {
                    "id": "0111164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111164"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111164"
}