{
    "disease_id": "DOID:0050711",
    "recommended_name": {
        "id": "DOID:0050711",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050711",
        "name": "aceruloplasminemia",
        "description": "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus."
    },
    "synonyms": [
        {
            "id": "MONDO:0011426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011426",
            "name": "aceruloplasminemia",
            "description": "An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms."
        },
        {
            "id": "MONDO:0011426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011426",
            "name": "cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0011426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011426",
            "name": "aceruloplasminemia",
            "description": ""
        },
        {
            "id": "MONDO:0011426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011426",
            "name": "hereditary ceruloplasmin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011426",
            "name": "hypoceruloplasminemia, hereditary",
            "description": ""
        },
        {
            "id": "MONDO:0011426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011426",
            "name": "familial apoceruloplasmin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011426",
            "name": "systemic hemosiderosis due to aceruloplasminemia",
            "description": ""
        },
        {
            "id": "MIM:604290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604290",
            "name": "Aceruloplasminemia",
            "description": "Aceruloplasminemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050711"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050711",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050711",
            "categories": []
        },
        {
            "id": "MONDO:0011426",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011426",
            "categories": []
        },
        {
            "id": "MIM:604290",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604290",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61147-1",
            "uniprot_ac": "Q61147",
            "uniprot_id": "CERU_MOUSE",
            "refseq_ac": "NP_001263177",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceruloplasmin",
                    "type": "recommended"
                },
                {
                    "name": "1.11.1.27",
                    "type": "synonym"
                },
                {
                    "name": "1.11.1.9",
                    "type": "synonym"
                },
                {
                    "name": "1.16.3.1",
                    "type": "synonym"
                },
                {
                    "name": "1.16.3.4",
                    "type": "synonym"
                },
                {
                    "name": "Cuproxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "Ferroxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione peroxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione-dependent peroxiredoxin ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "ceruloplasmin isoform c precursor",
                    "type": "synonym"
                },
                {
                    "name": "cuproxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "ferroxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "ferroxidase",
                    "type": "synonym"
                },
                {
                    "name": "glutathione peroxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "glutathione-dependent peroxiredoxin ceruloplasmin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cp",
                    "type": "recommended"
                },
                {
                    "name": "Cp",
                    "type": "synonym"
                },
                {
                    "name": "D3Ertd555e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61147-1",
            "evidence": [
                {
                    "id": "0050711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050711"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00450-1",
            "uniprot_ac": "P00450",
            "uniprot_id": "CERU_HUMAN",
            "refseq_ac": "NP_000087",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceruloplasmin",
                    "type": "recommended"
                },
                {
                    "name": "1.11.1.27",
                    "type": "synonym"
                },
                {
                    "name": "1.11.1.9",
                    "type": "synonym"
                },
                {
                    "name": "1.16.3.1",
                    "type": "synonym"
                },
                {
                    "name": "1.16.3.4",
                    "type": "synonym"
                },
                {
                    "name": "Cuproxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "Ferroxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione peroxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione-dependent peroxiredoxin ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "caeruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "ceruloplasmin (ferroxidase)",
                    "type": "synonym"
                },
                {
                    "name": "ceruloplasmin isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cuproxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "ferroxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "glutathione peroxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "glutathione-dependent peroxiredoxin ceruloplasmin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CP",
                    "type": "recommended"
                },
                {
                    "name": "AB073614",
                    "type": "synonym"
                },
                {
                    "name": "CP-2",
                    "type": "synonym"
                },
                {
                    "name": "CP",
                    "type": "synonym"
                }
            ],
            "record_id": "P00450-1",
            "evidence": [
                {
                    "id": "604290",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604290"
                },
                {
                    "id": "0050711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050711"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13635-1",
            "uniprot_ac": "P13635",
            "uniprot_id": "CERU_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ceruloplasmin",
                    "type": "recommended"
                },
                {
                    "name": "1.11.1.27",
                    "type": "synonym"
                },
                {
                    "name": "1.11.1.9",
                    "type": "synonym"
                },
                {
                    "name": "1.16.3.1",
                    "type": "synonym"
                },
                {
                    "name": "1.16.3.4",
                    "type": "synonym"
                },
                {
                    "name": "Cuproxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "Ferroxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione peroxidase ceruloplasmin",
                    "type": "synonym"
                },
                {
                    "name": "Glutathione-dependent peroxiredoxin ceruloplasmin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cp",
                    "type": "recommended"
                }
            ],
            "record_id": "P13635-1",
            "evidence": [
                {
                    "id": "0050711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050711"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39950-1",
            "uniprot_ac": "P39950",
            "uniprot_id": "CCNG1_RAT",
            "refseq_ac": "NP_037055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-G1",
                    "type": "recommended"
                },
                {
                    "name": "Cyclin-G",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-G1",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccng1",
                    "type": "recommended"
                },
                {
                    "name": "CYCG",
                    "type": "synonym"
                },
                {
                    "name": "Ccng1",
                    "type": "synonym"
                },
                {
                    "name": "Ccng",
                    "type": "synonym"
                }
            ],
            "record_id": "P39950-1",
            "evidence": [
                {
                    "id": "0050711",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050711"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050711"
}