{
    "disease_id": "DOID:0111052",
    "recommended_name": {
        "id": "DOID:0111052",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111052",
        "name": "Scott syndrome",
        "description": "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12."
    },
    "synonyms": [
        {
            "id": "DOID:0111052",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111052",
            "name": "bleeding abnormality due to deficiency of platelet biding of factor X",
            "description": ""
        },
        {
            "id": "DOID:0111052",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111052",
            "name": "BDPLT7",
            "description": ""
        },
        {
            "id": "DOID:0111052",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111052",
            "name": "SCTS",
            "description": ""
        },
        {
            "id": "DOID:0111052",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111052",
            "name": "familial prothrombin consumption inhibitor",
            "description": ""
        },
        {
            "id": "DOID:0111052",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111052",
            "name": "familial prothrombin conversion defect",
            "description": ""
        },
        {
            "id": "DOID:0111052",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111052",
            "name": "platelet-type bleeding disorder 7",
            "description": ""
        },
        {
            "id": "DOID:0111052",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111052",
            "name": "prothrombin consumption deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009885",
            "name": "Scott syndrome",
            "description": "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity."
        },
        {
            "id": "MONDO:0009885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009885",
            "name": "BDPLT7",
            "description": ""
        },
        {
            "id": "MONDO:0009885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009885",
            "name": "SCTS",
            "description": ""
        },
        {
            "id": "MONDO:0009885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009885",
            "name": "Scott syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009885",
            "name": "prothrombin consumption deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009885",
            "name": "Platelet factor X receptor deficiency",
            "description": ""
        },
        {
            "id": "MIM:262890",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/262890",
            "name": "Scott syndrome",
            "description": "Scott syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111052"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111052",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111052",
            "categories": []
        },
        {
            "id": "MONDO:0009885",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009885",
            "categories": []
        },
        {
            "id": "MIM:262890",
            "database": "MIM",
            "url": "https://www.omim.org/entry/262890",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QNZ8-1",
            "uniprot_ac": "F1QNZ8",
            "uniprot_id": "F1QNZ8_DANRE",
            "refseq_ac": "XP_005164519",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                },
                {
                    "name": "anoctamin-6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ano6",
                    "type": "recommended"
                },
                {
                    "name": "ano6",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QNZ8-1",
            "evidence": [
                {
                    "id": "0111052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P9J9-1",
            "uniprot_ac": "Q6P9J9",
            "uniprot_id": "ANO6_MOUSE",
            "refseq_ac": "NP_001240742",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin-6",
                    "type": "recommended"
                },
                {
                    "name": "SCAN channel",
                    "type": "synonym"
                },
                {
                    "name": "Small-conductance calcium-activated nonselective cation channel",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 16F",
                    "type": "synonym"
                },
                {
                    "name": "anoctamin-6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "small-conductance calcium-activated nonselective cation channel",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 16F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ano6",
                    "type": "recommended"
                },
                {
                    "name": "2900059G15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ano6",
                    "type": "synonym"
                },
                {
                    "name": "F730003B03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tmem16f",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P9J9-1",
            "evidence": [
                {
                    "id": "0111052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KMQ2-1",
            "uniprot_ac": "Q4KMQ2",
            "uniprot_id": "ANO6_HUMAN",
            "refseq_ac": "NP_001020527",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin-6",
                    "type": "recommended"
                },
                {
                    "name": "SCAN channel",
                    "type": "synonym"
                },
                {
                    "name": "Small-conductance calcium-activated nonselective cation channel",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 16F",
                    "type": "synonym"
                },
                {
                    "name": "anoctamin-6 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "small-conductance calcium-activated nonselective cation channel",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 16F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANO6",
                    "type": "recommended"
                },
                {
                    "name": "ANO6",
                    "type": "synonym"
                },
                {
                    "name": "BDPLT7",
                    "type": "synonym"
                },
                {
                    "name": "SCTS",
                    "type": "synonym"
                },
                {
                    "name": "TMEM16F",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KMQ2-1",
            "evidence": [
                {
                    "id": "262890",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/262890"
                },
                {
                    "id": "0111052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AA94-1",
            "uniprot_ac": "A0A8I6AA94",
            "uniprot_id": "A0A8I6AA94_RAT",
            "refseq_ac": "XP_008763957",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                },
                {
                    "name": "anoctamin-6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ano6",
                    "type": "recommended"
                },
                {
                    "name": "Ano6",
                    "type": "synonym"
                },
                {
                    "name": "Tmem16f",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AA94-1",
            "evidence": [
                {
                    "id": "0111052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PI24-1",
            "uniprot_ac": "M9PI24",
            "uniprot_id": "M9PI24_DROME",
            "refseq_ac": "NP_001261733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                },
                {
                    "name": "CG6938-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG6938",
                    "type": "recommended"
                },
                {
                    "name": "CG6938",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6938",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6938",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PI24-1",
            "evidence": [
                {
                    "id": "0111052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111052"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111052"
}