{
    "disease_id": "DOID:0080536",
    "recommended_name": {
        "id": "DOID:0080536",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080536",
        "name": "hypermanganesemia with dystonia 1",
        "description": "A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41."
    },
    "synonyms": [
        {
            "id": "MONDO:0013208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013208",
            "name": "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013208",
            "name": "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013208",
            "name": "HMDPC",
            "description": ""
        },
        {
            "id": "MONDO:0013208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013208",
            "name": "HMNDYT1",
            "description": ""
        },
        {
            "id": "MONDO:0013208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013208",
            "name": "hypermanganesemia with dystonia polycythemia and cirrhosis",
            "description": ""
        },
        {
            "id": "MONDO:0013208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013208",
            "name": "hypermanganesemia with dystonia, polycythemia, and cirrhosis",
            "description": ""
        },
        {
            "id": "MIM:613280",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613280",
            "name": "Hypermanganesemia with dystonia 1",
            "description": "Hypermanganesemia with dystonia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080536"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080536",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080536",
            "categories": []
        },
        {
            "id": "MONDO:0013208",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013208",
            "categories": []
        },
        {
            "id": "MIM:613280",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613280",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IEQ2-1",
            "uniprot_ac": "A0A0R4IEQ2",
            "uniprot_id": "A0A0R4IEQ2_DANRE",
            "refseq_ac": "NP_001121706",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium/manganese antiporter SLC30A10",
                    "type": "synonym"
                },
                {
                    "name": "calcium/manganese antiporter SLC30A10",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 30 (zinc transporter), member 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc30a10",
                    "type": "recommended"
                },
                {
                    "name": "ZnT10",
                    "type": "synonym"
                },
                {
                    "name": "slc30a10",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IEQ2-1",
            "evidence": [
                {
                    "id": "0080536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UVU3-1",
            "uniprot_ac": "Q3UVU3",
            "uniprot_id": "ZNT10_MOUSE",
            "refseq_ac": "NP_001028458",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium/manganese antiporter SLC30A10",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 30 member 10",
                    "type": "synonym"
                },
                {
                    "name": "calcium/manganese antiporter SLC30A10",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter 10",
                    "type": "synonym"
                },
                {
                    "name": "znT-10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc30a10",
                    "type": "recommended"
                },
                {
                    "name": "E130106K10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm212",
                    "type": "synonym"
                },
                {
                    "name": "Slc30a10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UVU3-1",
            "evidence": [
                {
                    "id": "0080536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6XR72-4",
            "uniprot_ac": "Q6XR72",
            "uniprot_id": "ZNT10_HUMAN",
            "refseq_ac": "NP_061183",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium/manganese antiporter SLC30A10",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 30 member 10",
                    "type": "synonym"
                },
                {
                    "name": "Zinc transporter 10",
                    "type": "synonym"
                },
                {
                    "name": "ZnT-10",
                    "type": "synonym"
                },
                {
                    "name": "calcium/manganese antiporter SLC30A10 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium/manganese antiporter SLC30A10",
                    "type": "synonym"
                },
                {
                    "name": "manganese transporter SLC30A10",
                    "type": "synonym"
                },
                {
                    "name": "zinc resistance conferring homolog",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC30A10",
                    "type": "recommended"
                },
                {
                    "name": "HMDPC",
                    "type": "synonym"
                },
                {
                    "name": "HMNDYT1",
                    "type": "synonym"
                },
                {
                    "name": "SLC30A10",
                    "type": "synonym"
                },
                {
                    "name": "ZNT10",
                    "type": "synonym"
                },
                {
                    "name": "ZNT8",
                    "type": "synonym"
                },
                {
                    "name": "ZRC1",
                    "type": "synonym"
                },
                {
                    "name": "ZnT-10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6XR72-4",
            "evidence": [
                {
                    "id": "613280",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613280"
                },
                {
                    "id": "0080536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32798-1",
            "uniprot_ac": "P32798",
            "uniprot_id": "COT1_YEAST",
            "refseq_ac": "NP_014961",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar zinc transporter COT1",
                    "type": "recommended"
                },
                {
                    "name": "Cobalt toxicity protein 1",
                    "type": "synonym"
                },
                {
                    "name": "metal cation transporter COT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COT1",
                    "type": "recommended"
                },
                {
                    "name": "COT1",
                    "type": "synonym"
                },
                {
                    "name": "O6131",
                    "type": "synonym"
                }
            ],
            "record_id": "P32798-1",
            "evidence": [
                {
                    "id": "0080536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20107-1",
            "uniprot_ac": "P20107",
            "uniprot_id": "ZRC1_YEAST",
            "refseq_ac": "NP_013970",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar zinc transporter ZRC1",
                    "type": "recommended"
                },
                {
                    "name": "Zinc resistance conferring protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc/cadmium resistance protein ZRC1",
                    "type": "synonym"
                },
                {
                    "name": "Zn(2+) transporter ZRC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZRC1",
                    "type": "recommended"
                },
                {
                    "name": "OSR1",
                    "type": "synonym"
                },
                {
                    "name": "YM9408.05C",
                    "type": "synonym"
                },
                {
                    "name": "ZRC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P20107-1",
            "evidence": [
                {
                    "id": "0080536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZJB7-1",
            "uniprot_ac": "D3ZJB7",
            "uniprot_id": "D3ZJB7_RAT",
            "refseq_ac": "NP_001099455",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 30, member 10",
                    "type": "synonym"
                },
                {
                    "name": "calcium/manganese antiporter SLC30A10",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc30a10",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305098",
                    "type": "synonym"
                },
                {
                    "name": "Slc30a10",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZJB7-1",
            "evidence": [
                {
                    "id": "0080536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PEG6-1",
            "uniprot_ac": "M9PEG6",
            "uniprot_id": "M9PEG6_DROME",
            "refseq_ac": "NP_001261364",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17723-PF",
                    "type": "synonym"
                },
                {
                    "name": "Zinc transporter 63C, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "ZnT63C-PF",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter 63C, isoform F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZnT63C",
                    "type": "recommended"
                },
                {
                    "name": "CG17723",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17723",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17723",
                    "type": "synonym"
                },
                {
                    "name": "ZNT63C",
                    "type": "synonym"
                },
                {
                    "name": "ZnT1",
                    "type": "synonym"
                },
                {
                    "name": "ZnT63C",
                    "type": "synonym"
                },
                {
                    "name": "ZnT63",
                    "type": "synonym"
                },
                {
                    "name": "cg17723",
                    "type": "synonym"
                },
                {
                    "name": "dZNT1",
                    "type": "synonym"
                },
                {
                    "name": "dZNT63C",
                    "type": "synonym"
                },
                {
                    "name": "dZnT1",
                    "type": "synonym"
                },
                {
                    "name": "dZnT63C",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PEG6-1",
            "evidence": [
                {
                    "id": "0080536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080536"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080536"
}