{
    "disease_id": "DOID:0111908",
    "recommended_name": {
        "id": "DOID:0111908",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111908",
        "name": "thrombophilia due to thrombomodulin defect",
        "description": "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111908",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111908",
            "name": "THBD-related bleeding disorder",
            "description": ""
        },
        {
            "id": "DOID:0111908",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111908",
            "name": "THBD-related coagulopathy",
            "description": ""
        },
        {
            "id": "DOID:0111908",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111908",
            "name": "THPH12",
            "description": ""
        },
        {
            "id": "DOID:0111908",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111908",
            "name": "thrombomodulin-related bleeding disorder",
            "description": ""
        },
        {
            "id": "DOID:0111908",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111908",
            "name": "thrombomodulin-related coagulopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013775",
            "name": "thrombomodulin-related bleeding disorder",
            "description": ""
        },
        {
            "id": "MONDO:0013775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013775",
            "name": "THBD-related bleeding disorder",
            "description": ""
        },
        {
            "id": "MONDO:0013775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013775",
            "name": "THBD-related coagulopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013775",
            "name": "thrombomodulin-related coagulopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013775",
            "name": "thrombophilia 12 due to thrombomodulin defect",
            "description": ""
        },
        {
            "id": "MONDO:0013775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013775",
            "name": "THPH12",
            "description": ""
        },
        {
            "id": "MONDO:0013775",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013775",
            "name": "thrombophilia due to thrombomodulin defect",
            "description": ""
        },
        {
            "id": "MIM:614486",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614486",
            "name": "Thrombophilia due to thrombomodulin defect",
            "description": "Thrombophilia due to thrombomodulin defect"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111908"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111908",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111908",
            "categories": []
        },
        {
            "id": "MONDO:0013775",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013775",
            "categories": []
        },
        {
            "id": "MIM:614486",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614486",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P15306-1",
            "uniprot_ac": "P15306",
            "uniprot_id": "TRBM_MOUSE",
            "refseq_ac": "NP_033404",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombomodulin",
                    "type": "recommended"
                },
                {
                    "name": "Fetomodulin",
                    "type": "synonym"
                },
                {
                    "name": "TM",
                    "type": "synonym"
                },
                {
                    "name": "fetomodulin",
                    "type": "synonym"
                },
                {
                    "name": "snoRNA MBII-339",
                    "type": "synonym"
                },
                {
                    "name": "thrombomodulin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thbd",
                    "type": "recommended"
                },
                {
                    "name": "CD141",
                    "type": "synonym"
                },
                {
                    "name": "TM",
                    "type": "synonym"
                },
                {
                    "name": "Thbd",
                    "type": "synonym"
                }
            ],
            "record_id": "P15306-1",
            "evidence": [
                {
                    "id": "0111908",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111908"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07204-1",
            "uniprot_ac": "P07204",
            "uniprot_id": "TRBM_HUMAN",
            "refseq_ac": "NP_000352",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombomodulin",
                    "type": "recommended"
                },
                {
                    "name": "CD141 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Fetomodulin",
                    "type": "synonym"
                },
                {
                    "name": "TM",
                    "type": "synonym"
                },
                {
                    "name": "fetomodulin",
                    "type": "synonym"
                },
                {
                    "name": "thrombomodulin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THBD",
                    "type": "recommended"
                },
                {
                    "name": "AHUS6",
                    "type": "synonym"
                },
                {
                    "name": "BDCA-3",
                    "type": "synonym"
                },
                {
                    "name": "BDCA3",
                    "type": "synonym"
                },
                {
                    "name": "CD141",
                    "type": "synonym"
                },
                {
                    "name": "THBD",
                    "type": "synonym"
                },
                {
                    "name": "THPH12",
                    "type": "synonym"
                },
                {
                    "name": "THRM",
                    "type": "synonym"
                },
                {
                    "name": "TM",
                    "type": "synonym"
                }
            ],
            "record_id": "P07204-1",
            "evidence": [
                {
                    "id": "614486",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614486"
                },
                {
                    "id": "0111908",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111908"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35370-1",
            "uniprot_ac": "O35370",
            "uniprot_id": "O35370_RAT",
            "refseq_ac": "NP_113959",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombomodulin",
                    "type": "recommended"
                },
                {
                    "name": "thrombomdulin",
                    "type": "synonym"
                },
                {
                    "name": "thrombomodulin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thbd",
                    "type": "recommended"
                },
                {
                    "name": "Thbd",
                    "type": "synonym"
                }
            ],
            "record_id": "O35370-1",
            "evidence": [
                {
                    "id": "0111908",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111908"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH23-1",
            "uniprot_ac": "Q9VH23",
            "uniprot_id": "Q9VH23_DROME",
            "refseq_ac": "NP_649981",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6217-PA",
                    "type": "synonym"
                },
                {
                    "name": "Knickkopf",
                    "type": "synonym"
                },
                {
                    "name": "dyspneic",
                    "type": "synonym"
                },
                {
                    "name": "gnarled",
                    "type": "synonym"
                },
                {
                    "name": "knickkopf",
                    "type": "synonym"
                },
                {
                    "name": "knk-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "knk",
                    "type": "recommended"
                },
                {
                    "name": "CG6217",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6217",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6217",
                    "type": "synonym"
                },
                {
                    "name": "Gnarled",
                    "type": "synonym"
                },
                {
                    "name": "Knk",
                    "type": "synonym"
                },
                {
                    "name": "dyspneic",
                    "type": "synonym"
                },
                {
                    "name": "gnar",
                    "type": "synonym"
                },
                {
                    "name": "knk",
                    "type": "synonym"
                },
                {
                    "name": "l(3)85Eg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH23-1",
            "evidence": [
                {
                    "id": "0111908",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111908"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K709-1",
            "uniprot_ac": "A0A0B4K709",
            "uniprot_id": "A0A0B4K709_DROME",
            "refseq_ac": "NP_001247269",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Skeletor",
                    "type": "recommended"
                },
                {
                    "name": "CG34355-PE",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG12492",
                    "type": "recommended"
                },
                {
                    "name": "CG13818",
                    "type": "recommended"
                },
                {
                    "name": "lincRNA.840",
                    "type": "recommended"
                },
                {
                    "name": "CG12492",
                    "type": "synonym"
                },
                {
                    "name": "CG13818",
                    "type": "synonym"
                },
                {
                    "name": "CG34355",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34355",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34355",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.840",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K709-1",
            "evidence": [
                {
                    "id": "0111908",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111908"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111908"
}