{
    "disease_id": "DOID:0111729",
    "recommended_name": {
        "id": "DOID:0111729",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111729",
        "name": "familial episodic pain syndrome 1",
        "description": "A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111729",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111729",
            "name": "FEPS1",
            "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_list": [
        "DOID:0111729"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111729",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111729",
            "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": "A0A8M6Z942-1",
            "uniprot_ac": "A0A8M6Z942",
            "uniprot_id": "A0A8M6Z942_DANRE",
            "refseq_ac": "XP_017213756",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "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": "transient receptor potential cation channel subfamily A member 1a isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpa1a",
                    "type": "recommended"
                },
                {
                    "name": "ANKTM1",
                    "type": "synonym"
                },
                {
                    "name": "trpa1a",
                    "type": "synonym"
                },
                {
                    "name": "trpa1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z942-1",
            "evidence": [
                {
                    "id": "0111729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BLA8-1",
            "uniprot_ac": "Q8BLA8",
            "uniprot_id": "TRPA1_MOUSE",
            "refseq_ac": "NP_001335217",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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": "Wasabi receptor",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-like with transmembrane domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily A member 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "wasabi receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpa1",
                    "type": "recommended"
                },
                {
                    "name": "Anktm1",
                    "type": "synonym"
                },
                {
                    "name": "TRPA1b",
                    "type": "synonym"
                },
                {
                    "name": "Trpa1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BLA8-1",
            "evidence": [
                {
                    "id": "0111729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111729"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0111729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6RI86-1",
            "uniprot_ac": "Q6RI86",
            "uniprot_id": "TRPA1_RAT",
            "refseq_ac": "NP_997491",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "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": "Transient Receptor Potential Ankyrin 1",
                    "type": "synonym"
                },
                {
                    "name": "Wasabi receptor",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin-like with transmembrane domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential A1 ion channel",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential A1",
                    "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": "Trpa1",
                    "type": "synonym"
                },
                {
                    "name": "rTRPA1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6RI86-1",
            "evidence": [
                {
                    "id": "0111729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111729"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z020-4",
            "uniprot_ac": "Q7Z020",
            "uniprot_id": "TRPA1_DROME",
            "refseq_ac": "NP_001097554",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "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": "CG5751-PJ",
                    "type": "synonym"
                },
                {
                    "name": "TrPA1",
                    "type": "synonym"
                },
                {
                    "name": "TrpA1-PJ",
                    "type": "synonym"
                },
                {
                    "name": "dANKTM1",
                    "type": "synonym"
                },
                {
                    "name": "dTRPA1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential A 1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential A1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel A1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel A1, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "transient-receptor-potential A1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TrpA1",
                    "type": "recommended"
                },
                {
                    "name": "ANKTM1",
                    "type": "synonym"
                },
                {
                    "name": "Anktm1",
                    "type": "synonym"
                },
                {
                    "name": "CG5751",
                    "type": "synonym"
                },
                {
                    "name": "CG5761",
                    "type": "synonym"
                },
                {
                    "name": "CT18073",
                    "type": "synonym"
                },
                {
                    "name": "DmTRPA1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5751",
                    "type": "synonym"
                },
                {
                    "name": "TRPA1",
                    "type": "synonym"
                },
                {
                    "name": "TRPA",
                    "type": "synonym"
                },
                {
                    "name": "TrPA1",
                    "type": "synonym"
                },
                {
                    "name": "Trp1A",
                    "type": "synonym"
                },
                {
                    "name": "TrpA1",
                    "type": "synonym"
                },
                {
                    "name": "TrpA",
                    "type": "synonym"
                },
                {
                    "name": "Trpa1",
                    "type": "synonym"
                },
                {
                    "name": "Trp",
                    "type": "synonym"
                },
                {
                    "name": "dANKTM1",
                    "type": "synonym"
                },
                {
                    "name": "dTRPA1",
                    "type": "synonym"
                },
                {
                    "name": "dTRPA",
                    "type": "synonym"
                },
                {
                    "name": "dTrpA1",
                    "type": "synonym"
                },
                {
                    "name": "dTrpA",
                    "type": "synonym"
                },
                {
                    "name": "dmTRPA1",
                    "type": "synonym"
                },
                {
                    "name": "dtrpA1",
                    "type": "synonym"
                },
                {
                    "name": "trpA1",
                    "type": "synonym"
                },
                {
                    "name": "trpa1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z020-4",
            "evidence": [
                {
                    "id": "0111729",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111729"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111729"
}
