{
    "disease_id": "DOID:0111154",
    "recommended_name": {
        "id": "DOID:0111154",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111154",
        "name": "postural orthostatic tachycardia syndrome",
        "description": "A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111154",
            "name": "irritable heart",
            "description": ""
        },
        {
            "id": "DOID:0111154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111154",
            "name": "mitral valve prolapse syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111154",
            "name": "orhtostatic intolerance",
            "description": ""
        },
        {
            "id": "DOID:0111154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111154",
            "name": "orthostatic intolerance due to NET deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111154",
            "name": "soldiers heart",
            "description": ""
        },
        {
            "id": "DOID:0111154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111154",
            "name": "postural tachycardia syndrome due to NET deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111154",
            "name": "familial orthostatic tachycardia due to norepinephrine transporter deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011479",
            "name": "postural orthostatic tachycardia syndrome",
            "description": "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart."
        },
        {
            "id": "MONDO:0011479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011479",
            "name": "POTS",
            "description": ""
        },
        {
            "id": "MONDO:0011479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011479",
            "name": "familial orthostatic tachycardia due to norepinephrine transporter deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011479",
            "name": "irritable heart",
            "description": ""
        },
        {
            "id": "MONDO:0011479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011479",
            "name": "orthostatic intolerance due to NET deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011479",
            "name": "soldiers heart",
            "description": ""
        },
        {
            "id": "MIM:604715",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604715",
            "name": "Orthostatic intolerance",
            "description": "Orthostatic intolerance"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111154"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111154",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111154",
            "categories": []
        },
        {
            "id": "MONDO:0011479",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011479",
            "categories": []
        },
        {
            "id": "MIM:604715",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604715",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "604715",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604715"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111154"
}