{
    "disease_id": "DOID:0111905",
    "recommended_name": {
        "id": "DOID:0111905",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111905",
        "name": "autosomal recessive thrombophilia due to protein S deficiency",
        "description": "A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111905",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111905",
            "name": "severe hereditary thrombophilia due to congenital protein S deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111905",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111905",
            "name": "THPH6",
            "description": ""
        },
        {
            "id": "DOID:0111905",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111905",
            "name": "autosomal recessive thrombophilia due to congenital protein S deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013791",
            "name": "thrombophilia due to protein S deficiency, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013791",
            "name": "thrombophilia 5 due to protein S deficiency, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013791",
            "name": "thrombophilia due to protein S deficiency, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013791",
            "name": "THPH6",
            "description": ""
        },
        {
            "id": "MIM:614514",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614514",
            "name": "Thrombophilia due to protein S deficiency, autosomal recessive",
            "description": "Thrombophilia due to protein S deficiency, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111905"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111905",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111905",
            "categories": []
        },
        {
            "id": "MONDO:0013791",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013791",
            "categories": []
        },
        {
            "id": "MIM:614514",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614514",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q08761-1",
            "uniprot_ac": "Q08761",
            "uniprot_id": "PROS_MOUSE",
            "refseq_ac": "NP_035303",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K-dependent protein S",
                    "type": "recommended"
                },
                {
                    "name": "vitamin K-dependent protein S preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein S",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pros1",
                    "type": "recommended"
                },
                {
                    "name": "Pros1",
                    "type": "synonym"
                },
                {
                    "name": "Pros",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08761-1",
            "evidence": [
                {
                    "id": "0111905",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111905"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07225-1",
            "uniprot_ac": "P07225",
            "uniprot_id": "PROS_HUMAN",
            "refseq_ac": "NP_000304",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K-dependent protein S",
                    "type": "recommended"
                },
                {
                    "name": "protein S (alpha)",
                    "type": "synonym"
                },
                {
                    "name": "protein Sa",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent plasma protein S",
                    "type": "synonym"
                },
                {
                    "name": "vitamin K-dependent protein S isoform 2 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PROS1",
                    "type": "recommended"
                },
                {
                    "name": "PROS1",
                    "type": "synonym"
                },
                {
                    "name": "PROS",
                    "type": "synonym"
                },
                {
                    "name": "PS21",
                    "type": "synonym"
                },
                {
                    "name": "PS22",
                    "type": "synonym"
                },
                {
                    "name": "PS23",
                    "type": "synonym"
                },
                {
                    "name": "PS24",
                    "type": "synonym"
                },
                {
                    "name": "PS25",
                    "type": "synonym"
                },
                {
                    "name": "PSA",
                    "type": "synonym"
                },
                {
                    "name": "THPH5",
                    "type": "synonym"
                },
                {
                    "name": "THPH6",
                    "type": "synonym"
                }
            ],
            "record_id": "P07225-1",
            "evidence": [
                {
                    "id": "614514",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614514"
                },
                {
                    "id": "0111905",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111905"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53813-1",
            "uniprot_ac": "P53813",
            "uniprot_id": "PROS_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vitamin K-dependent protein S",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Pros1",
                    "type": "recommended"
                },
                {
                    "name": "Pros",
                    "type": "synonym"
                }
            ],
            "record_id": "P53813-1",
            "evidence": [
                {
                    "id": "0111905",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111905"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111905"
}