{
    "disease_id": "DOID:0111903",
    "recommended_name": {
        "id": "DOID:0111903",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111903",
        "name": "thrombophilia due to HRG deficiency",
        "description": "A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111903",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111903",
            "name": "THPH11",
            "description": ""
        },
        {
            "id": "DOID:0111903",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111903",
            "name": "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111903",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111903",
            "name": "hereditary thrombophilia due to congenital HRG deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013143",
            "name": "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013143",
            "name": "hereditary thrombophilia due to congenital HRG deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013143",
            "name": "thrombophilia 11 due to HRG deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013143",
            "name": "THPH11",
            "description": ""
        },
        {
            "id": "MONDO:0013143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013143",
            "name": "thrombophilia due to histidine-rich glycoprotein deficiency",
            "description": ""
        },
        {
            "id": "MIM:613116",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613116",
            "name": "Thrombophilia due to histidine-rich glycoprotein deficiency",
            "description": "Thrombophilia due to histidine-rich glycoprotein deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111903"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111903",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111903",
            "categories": []
        },
        {
            "id": "MONDO:0013143",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013143",
            "categories": []
        },
        {
            "id": "MIM:613116",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613116",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9ESB3-1",
            "uniprot_ac": "Q9ESB3",
            "uniprot_id": "HRG_MOUSE",
            "refseq_ac": "NP_444406",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine-rich glycoprotein",
                    "type": "recommended"
                },
                {
                    "name": "HPRG",
                    "type": "synonym"
                },
                {
                    "name": "Histidine-proline-rich glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "histidine-proline-rich glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "histidine-rich glycoprotein precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hrg",
                    "type": "recommended"
                },
                {
                    "name": "D16jh2",
                    "type": "synonym"
                },
                {
                    "name": "D18020",
                    "type": "synonym"
                },
                {
                    "name": "Hprg",
                    "type": "synonym"
                },
                {
                    "name": "Hrgp",
                    "type": "synonym"
                },
                {
                    "name": "Hrg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESB3-1",
            "evidence": [
                {
                    "id": "0111903",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111903"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04196-1",
            "uniprot_ac": "P04196",
            "uniprot_id": "HRG_HUMAN",
            "refseq_ac": "NP_000403",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine-rich glycoprotein",
                    "type": "recommended"
                },
                {
                    "name": "HPRG",
                    "type": "synonym"
                },
                {
                    "name": "Histidine-proline-rich glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "histidine-proline-rich glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "histidine-rich glycoprotein precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HRG",
                    "type": "recommended"
                },
                {
                    "name": "HPRG",
                    "type": "synonym"
                },
                {
                    "name": "HRGP",
                    "type": "synonym"
                },
                {
                    "name": "HRG",
                    "type": "synonym"
                },
                {
                    "name": "THPH11",
                    "type": "synonym"
                }
            ],
            "record_id": "P04196-1",
            "evidence": [
                {
                    "id": "613116",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613116"
                },
                {
                    "id": "0111903",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111903"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99PS8-1",
            "uniprot_ac": "Q99PS8",
            "uniprot_id": "HRG_RAT",
            "refseq_ac": "NP_001316829",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine-rich glycoprotein",
                    "type": "recommended"
                },
                {
                    "name": "HPRG",
                    "type": "synonym"
                },
                {
                    "name": "HRG1",
                    "type": "synonym"
                },
                {
                    "name": "Histidine-proline-rich glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Histidine-rich glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "histidine-rich glycoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "histidine-rich glycoprotein like 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "histidine-rich glycoprotein-like",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific peptidase 17 like family member 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hrgl1",
                    "type": "recommended"
                },
                {
                    "name": "Hrg",
                    "type": "recommended"
                },
                {
                    "name": "Hrg l1",
                    "type": "synonym"
                },
                {
                    "name": "Hrg1",
                    "type": "synonym"
                },
                {
                    "name": "Hrgl1",
                    "type": "synonym"
                },
                {
                    "name": "Hrg",
                    "type": "synonym"
                },
                {
                    "name": "LOC681544",
                    "type": "synonym"
                },
                {
                    "name": "RNHRG2",
                    "type": "synonym"
                },
                {
                    "name": "Usp17l8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99PS8-1",
            "evidence": [
                {
                    "id": "0111903",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111903"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111903"
}