{
    "disease_id": "DOID:0080535",
    "recommended_name": {
        "id": "DOID:0080535",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080535",
        "name": "hypermanganesemia with dystonia",
        "description": "A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese."
    },
    "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": "DOID:0080536",
            "label": "hypermanganesemia with dystonia 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080537",
            "label": "hypermanganesemia with dystonia 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080536",
        "DOID:0080535",
        "DOID:0080537"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080535",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080535",
            "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": "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"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080535"
}