{
    "disease_id": "DOID:0070490",
    "recommended_name": {
        "id": "DOID:0070490",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070490",
        "name": "infantile parkinsonism-dystonia 2",
        "description": "A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070490",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070490",
            "name": "PKDYS2",
            "description": ""
        },
        {
            "id": "DOID:0070490",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070490",
            "name": "Brain dopamine-serotonin vesicular transport disease",
            "description": ""
        },
        {
            "id": "MONDO:0018130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018130",
            "name": "brain dopamine-serotonin vesicular transport disease",
            "description": "An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances."
        },
        {
            "id": "MONDO:0018130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018130",
            "name": "PKDYS2",
            "description": ""
        },
        {
            "id": "MONDO:0018130",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018130",
            "name": "parkinsonism-dystonia, infantile, 2",
            "description": ""
        },
        {
            "id": "MIM:618049",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618049",
            "name": "Parkinsonism-dystonia 2, infantile-onset",
            "description": "Parkinsonism-dystonia 2, infantile-onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070490"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070490",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070490",
            "categories": []
        },
        {
            "id": "MONDO:0018130",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018130",
            "categories": []
        },
        {
            "id": "MIM:618049",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618049",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P3E9-1",
            "uniprot_ac": "A0A8M1P3E9",
            "uniprot_id": "A0A8M1P3E9_DANRE",
            "refseq_ac": "NP_001243154",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptic vesicular amine transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 18 (vesicular monoamine transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 18 (vesicular monoamine), member 2",
                    "type": "synonym"
                },
                {
                    "name": "synaptic vesicular amine transporter",
                    "type": "synonym"
                },
                {
                    "name": "vmat2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc18a2",
                    "type": "recommended"
                },
                {
                    "name": "slc18a2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P3E9-1",
            "evidence": [
                {
                    "id": "0070490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BRU6-1",
            "uniprot_ac": "Q8BRU6",
            "uniprot_id": "VMAT2_MOUSE",
            "refseq_ac": "NP_766111",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptic vesicular amine transporter",
                    "type": "recommended"
                },
                {
                    "name": "Monoamine transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 18 member 2",
                    "type": "synonym"
                },
                {
                    "name": "VAT2",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular amine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular monoamine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 18 member 2",
                    "type": "synonym"
                },
                {
                    "name": "synaptic vesicular amine transporter",
                    "type": "synonym"
                },
                {
                    "name": "vesicular amine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "vesicular monoamine transporter 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc18a2",
                    "type": "recommended"
                },
                {
                    "name": "1110037L13Rik",
                    "type": "synonym"
                },
                {
                    "name": "9330105E13",
                    "type": "synonym"
                },
                {
                    "name": "Slc18a2",
                    "type": "synonym"
                },
                {
                    "name": "Vmat2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BRU6-1",
            "evidence": [
                {
                    "id": "0070490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05940-1",
            "uniprot_ac": "Q05940",
            "uniprot_id": "VMAT2_HUMAN",
            "refseq_ac": "NP_003045",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptic vesicular amine transporter",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 18 member 2",
                    "type": "synonym"
                },
                {
                    "name": "VAT2",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular amine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular monoamine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "monoamine neurotransmitter transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 18 (vesicular monoamine transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "synaptic vesicle amine transporter, brain",
                    "type": "synonym"
                },
                {
                    "name": "synaptic vesicle monoamine transporter, brain",
                    "type": "synonym"
                },
                {
                    "name": "synaptic vesicular amine transporter",
                    "type": "synonym"
                },
                {
                    "name": "vesicle monoamine transporter type 2",
                    "type": "synonym"
                },
                {
                    "name": "vesicle monoamine/H+ antiporter",
                    "type": "synonym"
                },
                {
                    "name": "vesicular amine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "vesicular monoamine transporter 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC18A2",
                    "type": "recommended"
                },
                {
                    "name": "PKDYS2",
                    "type": "synonym"
                },
                {
                    "name": "SLC18A2",
                    "type": "synonym"
                },
                {
                    "name": "SVAT",
                    "type": "synonym"
                },
                {
                    "name": "SVMT",
                    "type": "synonym"
                },
                {
                    "name": "VAT2",
                    "type": "synonym"
                },
                {
                    "name": "VMAT2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05940-1",
            "evidence": [
                {
                    "id": "618049",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618049"
                },
                {
                    "id": "0070490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01827-1",
            "uniprot_ac": "Q01827",
            "uniprot_id": "VMAT2_RAT",
            "refseq_ac": "NP_037163",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptic vesicular amine transporter",
                    "type": "recommended"
                },
                {
                    "name": "Monoamine transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 18 A2 (vesicular monoamine transporter 2)",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 18 member 2",
                    "type": "synonym"
                },
                {
                    "name": "VAT2",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular amine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular monoamine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "monoamine transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 18 (vesicular monoamine transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 18 (vesicular monoamine), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 18 member 2",
                    "type": "synonym"
                },
                {
                    "name": "synaptic vesicular amine transporter",
                    "type": "synonym"
                },
                {
                    "name": "vesicular amine transporter 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc18a2",
                    "type": "recommended"
                },
                {
                    "name": "MNAT",
                    "type": "synonym"
                },
                {
                    "name": "Slc18a2",
                    "type": "synonym"
                },
                {
                    "name": "Svat",
                    "type": "synonym"
                },
                {
                    "name": "VMAT-2",
                    "type": "synonym"
                },
                {
                    "name": "VMAT2",
                    "type": "synonym"
                },
                {
                    "name": "Vmat2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01827-1",
            "evidence": [
                {
                    "id": "0070490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070490"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02679-1",
            "uniprot_ac": "P02679",
            "uniprot_id": "FIBG_HUMAN",
            "refseq_ac": "NP_000500",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrinogen gamma chain",
                    "type": "recommended"
                },
                {
                    "name": "fibrinogen gamma chain isoform gamma-A precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibrinogen, gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 70",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGG",
                    "type": "recommended"
                },
                {
                    "name": "FGG",
                    "type": "synonym"
                },
                {
                    "name": "PRO2061",
                    "type": "synonym"
                }
            ],
            "record_id": "P02679-1",
            "evidence": [
                {
                    "id": "0070490",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070490"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070490"
}