{
    "disease_id": "DOID:0070466",
    "recommended_name": {
        "id": "DOID:0070466",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070466",
        "name": "carpal tunnel syndrome 1",
        "description": "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070466",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070466",
            "name": "CTS1",
            "description": ""
        },
        {
            "id": "MONDO:0020730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020730",
            "name": "carpal tunnel syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0020730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020730",
            "name": "carpal tunnel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020730",
            "name": "CTS1",
            "description": ""
        },
        {
            "id": "MONDO:0020730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020730",
            "name": "amyotrophy, thenar, of carpal origin",
            "description": ""
        },
        {
            "id": "MONDO:0020730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020730",
            "name": "carpal tunnel syndrome, familial",
            "description": ""
        },
        {
            "id": "MONDO:0020730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020730",
            "name": "CTS",
            "description": ""
        },
        {
            "id": "MIM:115430",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/115430",
            "name": "Carpal tunnel syndrome 1",
            "description": "Carpal tunnel syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070466"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070466",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070466",
            "categories": []
        },
        {
            "id": "MONDO:0020730",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020730",
            "categories": []
        },
        {
            "id": "MIM:115430",
            "database": "MIM",
            "url": "https://www.omim.org/entry/115430",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JLL8-1",
            "uniprot_ac": "B8JLL8",
            "uniprot_id": "B8JLL8_DANRE",
            "refseq_ac": "NP_001005598",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transthyretin",
                    "type": "recommended"
                },
                {
                    "name": "transthyretin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ttr",
                    "type": "recommended"
                },
                {
                    "name": "ttr",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103583",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JLL8-1",
            "evidence": [
                {
                    "id": "0070466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070466"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07309-1",
            "uniprot_ac": "P07309",
            "uniprot_id": "TTHY_MOUSE",
            "refseq_ac": "NP_038725",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transthyretin",
                    "type": "recommended"
                },
                {
                    "name": "Prealbumin",
                    "type": "synonym"
                },
                {
                    "name": "transthyretin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttr",
                    "type": "recommended"
                },
                {
                    "name": "Ttr",
                    "type": "synonym"
                },
                {
                    "name": "prealbumin",
                    "type": "synonym"
                }
            ],
            "record_id": "P07309-1",
            "evidence": [
                {
                    "id": "0070466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070466"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02766-1",
            "uniprot_ac": "P02766",
            "uniprot_id": "TTHY_HUMAN",
            "refseq_ac": "NP_000362",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transthyretin",
                    "type": "recommended"
                },
                {
                    "name": "ATTR",
                    "type": "synonym"
                },
                {
                    "name": "Prealbumin",
                    "type": "synonym"
                },
                {
                    "name": "TBPA",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 111",
                    "type": "synonym"
                },
                {
                    "name": "prealbumin, amyloidosis type I",
                    "type": "synonym"
                },
                {
                    "name": "thyroxine-binding prealbumin",
                    "type": "synonym"
                },
                {
                    "name": "transthyretin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TTR",
                    "type": "recommended"
                },
                {
                    "name": "AMYLD1",
                    "type": "synonym"
                },
                {
                    "name": "ATTR",
                    "type": "synonym"
                },
                {
                    "name": "CTS1",
                    "type": "synonym"
                },
                {
                    "name": "CTS",
                    "type": "synonym"
                },
                {
                    "name": "HEL111",
                    "type": "synonym"
                },
                {
                    "name": "HsT2651",
                    "type": "synonym"
                },
                {
                    "name": "PALB",
                    "type": "synonym"
                },
                {
                    "name": "TBPA",
                    "type": "synonym"
                },
                {
                    "name": "TTN",
                    "type": "synonym"
                },
                {
                    "name": "TTR",
                    "type": "synonym"
                }
            ],
            "record_id": "P02766-1",
            "evidence": [
                {
                    "id": "115430",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/115430"
                },
                {
                    "id": "0070466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070466"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02767-1",
            "uniprot_ac": "P02767",
            "uniprot_id": "TTHY_RAT",
            "refseq_ac": "NP_036813",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transthyretin",
                    "type": "recommended"
                },
                {
                    "name": "Prealbumin",
                    "type": "synonym"
                },
                {
                    "name": "TBPA",
                    "type": "synonym"
                },
                {
                    "name": "prealbumin, amyloidosis type I",
                    "type": "synonym"
                },
                {
                    "name": "transthyretin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttr",
                    "type": "recommended"
                },
                {
                    "name": "Lr1",
                    "type": "synonym"
                },
                {
                    "name": "TT",
                    "type": "synonym"
                },
                {
                    "name": "Tbpa",
                    "type": "synonym"
                },
                {
                    "name": "Ttr",
                    "type": "synonym"
                },
                {
                    "name": "Tt",
                    "type": "synonym"
                }
            ],
            "record_id": "P02767-1",
            "evidence": [
                {
                    "id": "0070466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070466"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z8C9-1",
            "uniprot_ac": "A1Z8C9",
            "uniprot_id": "A1Z8C9_DROME",
            "refseq_ac": "NP_724982",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "5-hydroxyisourate hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.5.2.17",
                    "type": "synonym"
                },
                {
                    "name": "CG30016-PA",
                    "type": "synonym"
                },
                {
                    "name": "HIU hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "HIUHase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anon-AE003828.1",
                    "type": "recommended"
                },
                {
                    "name": "CG30016",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30016",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30016",
                    "type": "synonym"
                },
                {
                    "name": "anon-AE003828.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z8C9-1",
            "evidence": [
                {
                    "id": "0070466",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070466"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070466"
}