{
    "disease_id": "DOID:0111728",
    "recommended_name": {
        "id": "DOID:0111728",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111728",
        "name": "familial episodic pain syndrome",
        "description": "A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion."
    },
    "synonyms": [
        {
            "id": "DOID:0111728",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111728",
            "name": "FEPS",
            "description": ""
        },
        {
            "id": "MONDO:0014021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014021",
            "name": "familial episodic pain syndrome with predominantly upper body involvement",
            "description": ""
        },
        {
            "id": "MONDO:0014021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014021",
            "name": "episodic pain syndrome, familial, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0014021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014021",
            "name": "FEPS1",
            "description": ""
        },
        {
            "id": "MONDO:0014021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014021",
            "name": "episodic pain syndrome, familial, 1",
            "description": ""
        },
        {
            "id": "MIM:615040",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615040",
            "name": "Episodic pain syndrome, familial, 1",
            "description": "Episodic pain syndrome, familial, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0111729",
            "label": "familial episodic pain syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111730",
            "label": "familial episodic pain syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111731",
            "label": "familial episodic pain syndrome 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111729",
        "DOID:0111731",
        "DOID:0111730",
        "DOID:0111728"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111728",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111728",
            "categories": []
        },
        {
            "id": "MONDO:0014021",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014021",
            "categories": []
        },
        {
            "id": "MIM:615040",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615040",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O75762-1",
            "uniprot_ac": "O75762",
            "uniprot_id": "TRPA1_HUMAN",
            "refseq_ac": "NP_015628",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily A member 1",
                    "type": "recommended"
                },
                {
                    "name": "Ankyrin-like with transmembrane domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Transformation-sensitive protein p120",
                    "type": "synonym"
                },
                {
                    "name": "Wasabi receptor",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-like with transmembrane domains 1",
                    "type": "synonym"
                },
                {
                    "name": "p120",
                    "type": "synonym"
                },
                {
                    "name": "transformation-sensitive protein p120",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily A member 1",
                    "type": "synonym"
                },
                {
                    "name": "wasabi receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPA1",
                    "type": "recommended"
                },
                {
                    "name": "ANKTM1",
                    "type": "synonym"
                },
                {
                    "name": "FEPS1",
                    "type": "synonym"
                },
                {
                    "name": "FEPS",
                    "type": "synonym"
                },
                {
                    "name": "TRPA1",
                    "type": "synonym"
                },
                {
                    "name": "p120",
                    "type": "synonym"
                }
            ],
            "record_id": "O75762-1",
            "evidence": [
                {
                    "id": "615040",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615040"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111728"
}