{
    "disease_id": "DOID:0111055",
    "recommended_name": {
        "id": "DOID:0111055",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111055",
        "name": "platelet-type bleeding disorder 20",
        "description": "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12."
    },
    "synonyms": [
        {
            "id": "DOID:0111055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111055",
            "name": "BDPLT20",
            "description": ""
        },
        {
            "id": "DOID:0111055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111055",
            "name": "autosomal dominant thrombocytopenia with platelet secretion defect",
            "description": ""
        },
        {
            "id": "MONDO:0014830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "name": "platelet-type bleeding disorder 20",
            "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene."
        },
        {
            "id": "MONDO:0014830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "name": "BDPLT20",
            "description": ""
        },
        {
            "id": "MONDO:0014830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "name": "SLFN14 inherited bleeding disorder, platelet-type",
            "description": ""
        },
        {
            "id": "MONDO:0014830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "name": "autosomal dominant thrombocytopenia with platelet secretion defect",
            "description": ""
        },
        {
            "id": "MONDO:0014830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "name": "bleeding disorder, platelet-type, 20",
            "description": ""
        },
        {
            "id": "MONDO:0014830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "name": "inherited bleeding disorder, platelet-type caused by mutation in SLFN14",
            "description": ""
        },
        {
            "id": "MIM:616913",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616913",
            "name": "Bleeding disorder, platelet-type, 20",
            "description": "Bleeding disorder, platelet-type, 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111055"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111055",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111055",
            "categories": []
        },
        {
            "id": "MONDO:0014830",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014830",
            "categories": []
        },
        {
            "id": "MIM:616913",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616913",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "V9GXG1-1",
            "uniprot_ac": "V9GXG1",
            "uniprot_id": "SLN14_MOUSE",
            "refseq_ac": "NP_001159500",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SLFN14",
                    "type": "recommended"
                },
                {
                    "name": "Schlafen family member 14, CAST_EiJ strain specific",
                    "type": "synonym"
                },
                {
                    "name": "Schlafen family member 14, WSB_EiJ strain specific",
                    "type": "synonym"
                },
                {
                    "name": "Schlafen family member 14",
                    "type": "synonym"
                },
                {
                    "name": "protein SLFN14",
                    "type": "synonym"
                },
                {
                    "name": "schlafen family member 14, pseudogene",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slfn14",
                    "type": "recommended"
                },
                {
                    "name": "Gm20",
                    "type": "synonym"
                },
                {
                    "name": "Slfn14-ps",
                    "type": "synonym"
                },
                {
                    "name": "Slfn14",
                    "type": "synonym"
                }
            ],
            "record_id": "V9GXG1-1",
            "evidence": [
                {
                    "id": "0111055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C7P3-1",
            "uniprot_ac": "P0C7P3",
            "uniprot_id": "SLN14_HUMAN",
            "refseq_ac": "NP_001123292",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SLFN14",
                    "type": "recommended"
                },
                {
                    "name": "Schlafen family member 14",
                    "type": "synonym"
                },
                {
                    "name": "protein SLFN14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLFN14",
                    "type": "recommended"
                },
                {
                    "name": "BDPLT20",
                    "type": "synonym"
                },
                {
                    "name": "SLFN14",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C7P3-1",
            "evidence": [
                {
                    "id": "616913",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616913"
                },
                {
                    "id": "0111055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111055"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111055"
}