{
    "disease_id": "DOID:0070489",
    "recommended_name": {
        "id": "DOID:0070489",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070489",
        "name": "classic dopamine transporter deficiency syndrome",
        "description": "A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid."
    },
    "synonyms": [
        {
            "id": "DOID:0070489",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070489",
            "name": "PKDYS1",
            "description": ""
        },
        {
            "id": "DOID:0070489",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070489",
            "name": "classic DTDS",
            "description": ""
        },
        {
            "id": "DOID:0070489",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070489",
            "name": "infantile parkinsonism-dystonia 1",
            "description": ""
        },
        {
            "id": "MONDO:0054835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054835",
            "name": "classic dopamine transporter deficiency syndrome",
            "description": "Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay."
        },
        {
            "id": "MONDO:0054835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054835",
            "name": "PKDYS",
            "description": ""
        },
        {
            "id": "MONDO:0054835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054835",
            "name": "PKDYS1",
            "description": ""
        },
        {
            "id": "MONDO:0054835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054835",
            "name": "Parkinsonism-dystonia, infantile, 1",
            "description": ""
        },
        {
            "id": "MONDO:0054835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054835",
            "name": "classic DTDS",
            "description": ""
        },
        {
            "id": "MIM:613135",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613135",
            "name": "Parkinsonism-dystonia 1, infantile-onset",
            "description": "Parkinsonism-dystonia 1, infantile-onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070489"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070489",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070489",
            "categories": []
        },
        {
            "id": "MONDO:0054835",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054835",
            "categories": []
        },
        {
            "id": "MIM:613135",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613135",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R3H6-1",
            "uniprot_ac": "F1R3H6",
            "uniprot_id": "F1R3H6_DANRE",
            "refseq_ac": "XP_009301625",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transporter",
                    "type": "recommended"
                },
                {
                    "name": "sodium-dependent noradrenaline transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc6a2",
                    "type": "recommended"
                },
                {
                    "name": "slc6a2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R3H6-1",
            "evidence": [
                {
                    "id": "0070489",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070489"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61327-1",
            "uniprot_ac": "Q61327",
            "uniprot_id": "SC6A3_MOUSE",
            "refseq_ac": "NP_034150",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent dopamine transporter",
                    "type": "recommended"
                },
                {
                    "name": "DA transporter",
                    "type": "synonym"
                },
                {
                    "name": "DAT",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 3",
                    "type": "synonym"
                },
                {
                    "name": "dopamine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent dopamine transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc6a3",
                    "type": "recommended"
                },
                {
                    "name": "DAT",
                    "type": "synonym"
                },
                {
                    "name": "Dat1",
                    "type": "synonym"
                },
                {
                    "name": "Dat",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61327-1",
            "evidence": [
                {
                    "id": "0070489",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070489"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55192-1",
            "uniprot_ac": "O55192",
            "uniprot_id": "SC6A2_MOUSE",
            "refseq_ac": "NP_033235",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent noradrenaline transporter",
                    "type": "recommended"
                },
                {
                    "name": "NE transporter",
                    "type": "synonym"
                },
                {
                    "name": "NET",
                    "type": "synonym"
                },
                {
                    "name": "Norepinephrine transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 2",
                    "type": "synonym"
                },
                {
                    "name": "norepinephrine transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent noradrenaline transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc6a2",
                    "type": "recommended"
                },
                {
                    "name": "NE-T",
                    "type": "synonym"
                },
                {
                    "name": "NET",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a2",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a5",
                    "type": "synonym"
                }
            ],
            "record_id": "O55192-1",
            "evidence": [
                {
                    "id": "0070489",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070489"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01959-1",
            "uniprot_ac": "Q01959",
            "uniprot_id": "SC6A3_HUMAN",
            "refseq_ac": "NP_001035",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent dopamine transporter",
                    "type": "recommended"
                },
                {
                    "name": "DA transporter",
                    "type": "synonym"
                },
                {
                    "name": "DAT",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 3",
                    "type": "synonym"
                },
                {
                    "name": "dopamine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent dopamine transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter, dopamine), member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC6A3",
                    "type": "recommended"
                },
                {
                    "name": "DAT1",
                    "type": "synonym"
                },
                {
                    "name": "DAT",
                    "type": "synonym"
                },
                {
                    "name": "PKDYS1",
                    "type": "synonym"
                },
                {
                    "name": "PKDYS",
                    "type": "synonym"
                },
                {
                    "name": "SLC6A3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01959-1",
            "evidence": [
                {
                    "id": "613135",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613135"
                },
                {
                    "id": "0070489",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070489"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23977-1",
            "uniprot_ac": "P23977",
            "uniprot_id": "SC6A3_RAT",
            "refseq_ac": "NP_036826",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent dopamine transporter",
                    "type": "recommended"
                },
                {
                    "name": "DA transporter",
                    "type": "synonym"
                },
                {
                    "name": "DAT",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 3",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent dopamine transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter, dopamine), member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc6a3",
                    "type": "recommended"
                },
                {
                    "name": "Dat1",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a3",
                    "type": "synonym"
                }
            ],
            "record_id": "P23977-1",
            "evidence": [
                {
                    "id": "0070489",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070489"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LQW0-1",
            "uniprot_ac": "F1LQW0",
            "uniprot_id": "F1LQW0_RAT",
            "refseq_ac": "NP_112633",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transporter",
                    "type": "recommended"
                },
                {
                    "name": "NaCl-dependent norepinephrine transporter",
                    "type": "synonym"
                },
                {
                    "name": "neurotransmitter transporter, noradrenal",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent noradrenaline transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane region 4..26 transmembrane region 55..77 transmembrane region 105..123 transmembrane region 136..157",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc6a2",
                    "type": "recommended"
                },
                {
                    "name": "Net",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LQW0-1",
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                {
                    "id": "0070489",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070489"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7K4Y6-1",
            "uniprot_ac": "Q7K4Y6",
            "uniprot_id": "DAT_DROME",
            "refseq_ac": "NP_523763",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent dopamine transporter",
                    "type": "recommended"
                },
                {
                    "name": "CG8380-PA",
                    "type": "synonym"
                },
                {
                    "name": "DAT-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein fumin",
                    "type": "synonym"
                },
                {
                    "name": "dopamine transporter, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "dopamine transporter",
                    "type": "synonym"
                },
                {
                    "name": "fumin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DAT",
                    "type": "recommended"
                },
                {
                    "name": "CG8380",
                    "type": "synonym"
                },
                {
                    "name": "DAT",
                    "type": "synonym"
                },
                {
                    "name": "Dat",
                    "type": "synonym"
                },
                {
                    "name": "DmDAT",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8380",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8380",
                    "type": "synonym"
                },
                {
                    "name": "Fumin",
                    "type": "synonym"
                },
                {
                    "name": "dDAT",
                    "type": "synonym"
                },
                {
                    "name": "dDat",
                    "type": "synonym"
                },
                {
                    "name": "dat",
                    "type": "synonym"
                },
                {
                    "name": "fmn",
                    "type": "synonym"
                },
                {
                    "name": "fumin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7K4Y6-1",
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                {
                    "id": "0070489",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070489"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23975-1",
            "uniprot_ac": "P23975",
            "uniprot_id": "SC6A2_HUMAN",
            "refseq_ac": "NP_001034",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent noradrenaline transporter",
                    "type": "recommended"
                },
                {
                    "name": "NET",
                    "type": "synonym"
                },
                {
                    "name": "Norepinephrine transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 2",
                    "type": "synonym"
                },
                {
                    "name": "neurotransmitter transporter",
                    "type": "synonym"
                },
                {
                    "name": "norepinephrine transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent noradrenaline transporter isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent noradrenaline transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC6A2",
                    "type": "recommended"
                },
                {
                    "name": "NAT1",
                    "type": "synonym"
                },
                {
                    "name": "NET1",
                    "type": "synonym"
                },
                {
                    "name": "NET",
                    "type": "synonym"
                },
                {
                    "name": "SLC6A2",
                    "type": "synonym"
                },
                {
                    "name": "SLC6A5",
                    "type": "synonym"
                }
            ],
            "record_id": "P23975-1",
            "evidence": [
                {
                    "id": "0070489",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070489"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070489"
}