{
    "disease_id": "DOID:0080537",
    "recommended_name": {
        "id": "DOID:0080537",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080537",
        "name": "hypermanganesemia with dystonia 2",
        "description": "A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0014864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014864",
            "name": "hypermanganesemia with dystonia 2",
            "description": "Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene."
        },
        {
            "id": "MONDO:0014864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014864",
            "name": "HMNDYT2",
            "description": ""
        },
        {
            "id": "MONDO:0014864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014864",
            "name": "SLC39A14 hypermanganesemia with dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0014864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014864",
            "name": "hypermanganesemia with dystonia 2",
            "description": ""
        },
        {
            "id": "MONDO:0014864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014864",
            "name": "hypermanganesemia with dystonia 2; HMNDYT2",
            "description": ""
        },
        {
            "id": "MONDO:0014864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014864",
            "name": "hypermanganesemia with dystonia caused by mutation in SLC39A14",
            "description": ""
        },
        {
            "id": "MONDO:0014864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014864",
            "name": "hypermanganesemia with dystonia type 2",
            "description": ""
        },
        {
            "id": "MIM:617013",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617013",
            "name": "Hypermanganesemia with dystonia 2",
            "description": "Hypermanganesemia with dystonia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080537"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080537",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080537",
            "categories": []
        },
        {
            "id": "MONDO:0014864",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014864",
            "categories": []
        },
        {
            "id": "MIM:617013",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617013",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0G2KQY6-1",
            "uniprot_ac": "A0A0G2KQY6",
            "uniprot_id": "S39AE_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal cation symporter ZIP14",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 39 member 14",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-14",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc39a14",
                    "type": "recommended"
                },
                {
                    "name": "ZIP-14",
                    "type": "synonym"
                },
                {
                    "name": "ZIP14",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb823",
                    "type": "synonym"
                },
                {
                    "name": "zip14",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KQY6-1",
            "evidence": [
                {
                    "id": "0080537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080537"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q75N73-1",
            "uniprot_ac": "Q75N73",
            "uniprot_id": "S39AE_MOUSE",
            "refseq_ac": "NP_001128623",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal cation symporter ZIP14",
                    "type": "recommended"
                },
                {
                    "name": "FAD-123",
                    "type": "synonym"
                },
                {
                    "name": "Factor for adipocyte differentiation 123",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 39 member 14",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-14",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 14",
                    "type": "synonym"
                },
                {
                    "name": "factor for adipocyte differentiation 123",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP14 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP14",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc39a14",
                    "type": "recommended"
                },
                {
                    "name": "FAD-123",
                    "type": "synonym"
                },
                {
                    "name": "Fad123",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0062",
                    "type": "synonym"
                },
                {
                    "name": "Slc39a14",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-14",
                    "type": "synonym"
                },
                {
                    "name": "Zip14",
                    "type": "synonym"
                },
                {
                    "name": "fad123",
                    "type": "synonym"
                }
            ],
            "record_id": "Q75N73-1",
            "evidence": [
                {
                    "id": "0080537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080537"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15043-1",
            "uniprot_ac": "Q15043",
            "uniprot_id": "S39AE_HUMAN",
            "refseq_ac": "NP_001121903",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal cation symporter ZIP14",
                    "type": "recommended"
                },
                {
                    "name": "LIV-1 subfamily of ZIP zinc transporter 4",
                    "type": "synonym"
                },
                {
                    "name": "LZT-Hs4",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 39 member 14",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-14",
                    "type": "synonym"
                },
                {
                    "name": "Zinc transporter ZIP14",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 14",
                    "type": "synonym"
                },
                {
                    "name": "Zrt-, Irt-like protein 14",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP14 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP14",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (metal ion transporter), member 14",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (zinc transporter), member 14",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter 14",
                    "type": "synonym"
                },
                {
                    "name": "zrt- and Irt-like protein 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC39A14",
                    "type": "recommended"
                },
                {
                    "name": "HCIN",
                    "type": "synonym"
                },
                {
                    "name": "HMNDYT2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0062",
                    "type": "synonym"
                },
                {
                    "name": "LZT-Hs4",
                    "type": "synonym"
                },
                {
                    "name": "NET34",
                    "type": "synonym"
                },
                {
                    "name": "SLC39A14",
                    "type": "synonym"
                },
                {
                    "name": "ZIP14",
                    "type": "synonym"
                },
                {
                    "name": "cig19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15043-1",
            "evidence": [
                {
                    "id": "617013",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617013"
                },
                {
                    "id": "0080537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080537"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ABU1-1",
            "uniprot_ac": "A0A8I6ABU1",
            "uniprot_id": "A0A8I6ABU1_RAT",
            "refseq_ac": "XP_006252332",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal cation symporter ZIP14",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 39 member 14",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 14",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP14 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metal cation symporter ZIP14",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (zinc transporter), member 14",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc39a14",
                    "type": "recommended"
                },
                {
                    "name": "Slc39a14",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6ABU1-1",
            "evidence": [
                {
                    "id": "0080537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080537"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080537"
}