{
    "disease_id": "DOID:0111163",
    "recommended_name": {
        "id": "DOID:0111163",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111163",
        "name": "molybdenum cofactor deficiency type B",
        "description": "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11."
    },
    "synonyms": [
        {
            "id": "DOID:0111163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111163",
            "name": "molybdenum cofactor deficiency complementation group B",
            "description": ""
        },
        {
            "id": "DOID:0111163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111163",
            "name": "MOCOD type B",
            "description": ""
        },
        {
            "id": "DOID:0111163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111163",
            "name": "MOCODB",
            "description": ""
        },
        {
            "id": "DOID:0111163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111163",
            "name": "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B",
            "description": ""
        },
        {
            "id": "DOID:0111163",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111163",
            "name": "molybdenum cofactor deficiency type B1",
            "description": ""
        },
        {
            "id": "MONDO:0009644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009644",
            "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1",
            "description": ""
        },
        {
            "id": "MONDO:0009644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009644",
            "name": "MOCOD type B",
            "description": ""
        },
        {
            "id": "MONDO:0009644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009644",
            "name": "MOCODB",
            "description": ""
        },
        {
            "id": "MONDO:0009644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009644",
            "name": "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B",
            "description": ""
        },
        {
            "id": "MONDO:0009644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009644",
            "name": "molybdenum cofactor deficiency B",
            "description": ""
        },
        {
            "id": "MONDO:0009644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009644",
            "name": "molybdenum cofactor deficiency, complementation group type B",
            "description": ""
        },
        {
            "id": "MONDO:0009644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009644",
            "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B",
            "description": ""
        },
        {
            "id": "MONDO:0009644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009644",
            "name": "molybdenum cofactor deficiency, complementation group B",
            "description": ""
        },
        {
            "id": "MIM:252160",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252160",
            "name": "Molybdenum cofactor deficiency B",
            "description": "Molybdenum cofactor deficiency B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111163"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111163",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111163",
            "categories": []
        },
        {
            "id": "MONDO:0009644",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009644",
            "categories": []
        },
        {
            "id": "MIM:252160",
            "database": "MIM",
            "url": "https://www.omim.org/entry/252160",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z1C5-1",
            "uniprot_ac": "A0A8M6Z1C5",
            "uniprot_id": "A0A8M6Z1C5_DANRE",
            "refseq_ac": "XP_021334934",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdopterin synthase catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.12",
                    "type": "synonym"
                },
                {
                    "name": "MOCS2B",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor synthesis protein 2 large subunit",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor synthesis protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "molybdopterin synthase catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mocs2",
                    "type": "recommended"
                },
                {
                    "name": "LOC103911725",
                    "type": "synonym"
                },
                {
                    "name": "MOCS2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z1C5-1",
            "evidence": [
                {
                    "id": "0111163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z223-2",
            "uniprot_ac": "Q9Z223",
            "uniprot_id": "MOC2B_MOUSE",
            "refseq_ac": "NP_001106845",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdopterin synthase catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.12",
                    "type": "synonym"
                },
                {
                    "name": "MOCS2B",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor synthesis protein 2 large subunit",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor synthesis protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor synthesis protein 2 large subunit",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor synthesis protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "molybdopterin synthase sulfur carrier subunit isoform Mocs2B",
                    "type": "synonym"
                },
                {
                    "name": "molybdopterin synthase sulfur carrier subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mocs2",
                    "type": "recommended"
                },
                {
                    "name": "Mocs2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z223-2",
            "evidence": [
                {
                    "id": "0111163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96007-1",
            "uniprot_ac": "O96007",
            "uniprot_id": "MOC2B_HUMAN",
            "refseq_ac": "NP_004522",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdopterin synthase catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.12",
                    "type": "synonym"
                },
                {
                    "name": "MOCO1-B",
                    "type": "synonym"
                },
                {
                    "name": "MOCS2B",
                    "type": "synonym"
                },
                {
                    "name": "MPT synthase large subunit",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor synthesis protein 2 large subunit",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor synthesis protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "Molybdopterin-synthase large subunit",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor biosynthesis protein E",
                    "type": "synonym"
                },
                {
                    "name": "molybdopterin synthase catalytic subunit large subunit MOCS2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MOCS2",
                    "type": "recommended"
                },
                {
                    "name": "MCBPE",
                    "type": "synonym"
                },
                {
                    "name": "MOCO1",
                    "type": "synonym"
                },
                {
                    "name": "MOCODB1",
                    "type": "synonym"
                },
                {
                    "name": "MOCODB",
                    "type": "synonym"
                },
                {
                    "name": "MOCS2",
                    "type": "synonym"
                },
                {
                    "name": "MPTS",
                    "type": "synonym"
                }
            ],
            "record_id": "O96007-1",
            "evidence": [
                {
                    "id": "252160",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/252160"
                },
                {
                    "id": "0111163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AY59-1",
            "uniprot_ac": "Q6AY59",
            "uniprot_id": "MOC2B_RAT",
            "refseq_ac": "NP_001007634",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdopterin synthase catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.12",
                    "type": "synonym"
                },
                {
                    "name": "MOCS2B",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor synthesis protein 2 large subunit",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor synthesis protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor synthesis protein 2 large subunit",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor synthesis protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "molybdopterin synthase catalytic subunit isoform Mocs2B-1",
                    "type": "synonym"
                },
                {
                    "name": "molybdopterin synthase catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "molybdopterin synthase sulfur carrier subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mocs2",
                    "type": "recommended"
                },
                {
                    "name": "MOCS2",
                    "type": "synonym"
                },
                {
                    "name": "Mocs2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AY59-1",
            "evidence": [
                {
                    "id": "0111163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111163"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBX2-1",
            "uniprot_ac": "Q9VBX2",
            "uniprot_id": "MOC2B_DROME",
            "refseq_ac": "NP_651340",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Molybdopterin synthase catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.8.1.12",
                    "type": "synonym"
                },
                {
                    "name": "CG10238-PA",
                    "type": "synonym"
                },
                {
                    "name": "MAPK upstream kinase-binding inhibitory protein",
                    "type": "synonym"
                },
                {
                    "name": "MOCS2B",
                    "type": "synonym"
                },
                {
                    "name": "MUK-binding inhibitory protein",
                    "type": "synonym"
                },
                {
                    "name": "Mocs2B-PA",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor synthesis protein 2 large subunit",
                    "type": "synonym"
                },
                {
                    "name": "Molybdenum cofactor synthesis protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor synthesis 2B",
                    "type": "synonym"
                },
                {
                    "name": "molybdenum cofactor synthesis 2",
                    "type": "synonym"
                },
                {
                    "name": "molybdopterin synthase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mocs2B",
                    "type": "recommended"
                },
                {
                    "name": "CG10238",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10238",
                    "type": "synonym"
                },
                {
                    "name": "Dromel_CG10238_FBtr0084782_mocs_mORF",
                    "type": "synonym"
                },
                {
                    "name": "MBIP/dMoaE",
                    "type": "synonym"
                },
                {
                    "name": "MOCS2",
                    "type": "synonym"
                },
                {
                    "name": "Mbip",
                    "type": "synonym"
                },
                {
                    "name": "Mocs2B",
                    "type": "synonym"
                },
                {
                    "name": "Mocs2b",
                    "type": "synonym"
                },
                {
                    "name": "Mocs2",
                    "type": "synonym"
                },
                {
                    "name": "dMbip",
                    "type": "synonym"
                },
                {
                    "name": "dMoaE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBX2-1",
            "evidence": [
                {
                    "id": "0111163",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111163"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111163"
}