{
    "disease_id": "DOID:0111166",
    "recommended_name": {
        "id": "DOID:0111166",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111166",
        "name": "molybdenum cofactor deficiency type C",
        "description": "A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23."
    },
    "synonyms": [
        {
            "id": "DOID:0111166",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111166",
            "name": "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C",
            "description": ""
        },
        {
            "id": "DOID:0111166",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111166",
            "name": "MOCOD type C",
            "description": ""
        },
        {
            "id": "DOID:0111166",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111166",
            "name": "MOCODC",
            "description": ""
        },
        {
            "id": "DOID:0111166",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111166",
            "name": "molybdenum cofactor deficiency complementation group C",
            "description": ""
        },
        {
            "id": "MONDO:0014212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014212",
            "name": "sulfite oxidase deficiency due to molybdenum cofactor deficiency type C",
            "description": "A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23."
        },
        {
            "id": "MONDO:0014212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014212",
            "name": "MOCOD type C",
            "description": ""
        },
        {
            "id": "MONDO:0014212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014212",
            "name": "MOCODC",
            "description": ""
        },
        {
            "id": "MONDO:0014212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014212",
            "name": "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C",
            "description": ""
        },
        {
            "id": "MONDO:0014212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014212",
            "name": "molybdenum cofactor deficiency C",
            "description": ""
        },
        {
            "id": "MONDO:0014212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014212",
            "name": "molybdenum cofactor deficiency, complementation group type C",
            "description": ""
        },
        {
            "id": "MONDO:0014212",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014212",
            "name": "molybdenum cofactor deficiency, complementation group C",
            "description": ""
        },
        {
            "id": "MIM:615501",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615501",
            "name": "Molybdenum cofactor deficiency C",
            "description": "Molybdenum cofactor deficiency C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111166"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111166",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111166",
            "categories": []
        },
        {
            "id": "MONDO:0014212",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014212",
            "categories": []
        },
        {
            "id": "MIM:615501",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615501",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PSF7-1",
            "uniprot_ac": "A0A8M9PSF7",
            "uniprot_id": "A0A8M9PSF7_DANRE",
            "refseq_ac": "XP_021324010",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gephyrin",
                    "type": "recommended"
                },
                {
                    "name": "2.10.1.1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.75",
                    "type": "synonym"
                },
                {
                    "name": "gephyrin b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gphnb",
                    "type": "recommended"
                },
                {
                    "name": "fj59a01",
                    "type": "synonym"
                },
                {
                    "name": "gphn2",
                    "type": "synonym"
                },
                {
                    "name": "gphnb",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj59a01",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PSF7-1",
            "evidence": [
                {
                    "id": "0111166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PE84-1",
            "uniprot_ac": "A0A8M9PE84",
            "uniprot_id": "A0A8M9PE84_DANRE",
            "refseq_ac": "XP_021322844",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gephyrin",
                    "type": "recommended"
                },
                {
                    "name": "2.10.1.1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.75",
                    "type": "synonym"
                },
                {
                    "name": "gephyrin a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gphna",
                    "type": "recommended"
                },
                {
                    "name": "gpgb1",
                    "type": "synonym"
                },
                {
                    "name": "gphna",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PE84-1",
            "evidence": [
                {
                    "id": "0111166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BUV3-1",
            "uniprot_ac": "Q8BUV3",
            "uniprot_id": "GEPH_MOUSE",
            "refseq_ac": "NP_766540",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gephyrin",
                    "type": "recommended"
                },
                {
                    "name": "Domain E",
                    "type": "synonym"
                },
                {
                    "name": "Domain G",
                    "type": "synonym"
                },
                {
                    "name": "Mo insertase",
                    "type": "synonym"
                },
                {
                    "name": "gephyrin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gphn",
                    "type": "recommended"
                },
                {
                    "name": "5730552E08Rik",
                    "type": "synonym"
                },
                {
                    "name": "C230040D23",
                    "type": "synonym"
                },
                {
                    "name": "GPHRYN",
                    "type": "synonym"
                },
                {
                    "name": "GPH",
                    "type": "synonym"
                },
                {
                    "name": "Gphn",
                    "type": "synonym"
                },
                {
                    "name": "geph",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BUV3-1",
            "evidence": [
                {
                    "id": "0111166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQX3-1",
            "uniprot_ac": "Q9NQX3",
            "uniprot_id": "GEPH_HUMAN",
            "refseq_ac": "NP_001019389",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gephyrin",
                    "type": "recommended"
                },
                {
                    "name": "Domain E",
                    "type": "synonym"
                },
                {
                    "name": "Domain G",
                    "type": "synonym"
                },
                {
                    "name": "Mo insertase",
                    "type": "synonym"
                },
                {
                    "name": "gephyrin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPHN",
                    "type": "recommended"
                },
                {
                    "name": "GEPH",
                    "type": "synonym"
                },
                {
                    "name": "GPHN",
                    "type": "synonym"
                },
                {
                    "name": "GPHRYN",
                    "type": "synonym"
                },
                {
                    "name": "GPH",
                    "type": "synonym"
                },
                {
                    "name": "HKPX1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1385",
                    "type": "synonym"
                },
                {
                    "name": "MOCODC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQX3-1",
            "evidence": [
                {
                    "id": "615501",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615501"
                },
                {
                    "id": "0111166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03555-1",
            "uniprot_ac": "Q03555",
            "uniprot_id": "GEPH_RAT",
            "refseq_ac": "NP_074056",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gephyrin",
                    "type": "recommended"
                },
                {
                    "name": "Domain E",
                    "type": "synonym"
                },
                {
                    "name": "Domain G",
                    "type": "synonym"
                },
                {
                    "name": "Mo insertase",
                    "type": "synonym"
                },
                {
                    "name": "Putative glycine receptor-tubulin linker protein",
                    "type": "synonym"
                },
                {
                    "name": "gephyrin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "putative glycine receptor-tubulin linker protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gphn",
                    "type": "recommended"
                },
                {
                    "name": "Geph",
                    "type": "synonym"
                },
                {
                    "name": "Gphn",
                    "type": "synonym"
                },
                {
                    "name": "Gph",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03555-1",
            "evidence": [
                {
                    "id": "0111166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111166"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39205-1",
            "uniprot_ac": "P39205",
            "uniprot_id": "CIN_DROME",
            "refseq_ac": "NP_477030",
            "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 synthesis protein cinnamon",
                    "type": "recommended"
                },
                {
                    "name": "CG2945-PA",
                    "type": "synonym"
                },
                {
                    "name": "Domain E",
                    "type": "synonym"
                },
                {
                    "name": "Domain G",
                    "type": "synonym"
                },
                {
                    "name": "cin-PA",
                    "type": "synonym"
                },
                {
                    "name": "cinnamon, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cin",
                    "type": "recommended"
                },
                {
                    "name": "CG2945",
                    "type": "synonym"
                },
                {
                    "name": "CIN",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2945",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACR37P7.3",
                    "type": "synonym"
                },
                {
                    "name": "cin",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)M50",
                    "type": "synonym"
                },
                {
                    "name": "l(1)1Ae",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0142",
                    "type": "synonym"
                }
            ],
            "record_id": "P39205-1",
            "evidence": [
                {
                    "id": "0111166",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111166"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111166"
}