{
    "disease_id": "DOID:0110925",
    "recommended_name": {
        "id": "DOID:0110925",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110925",
        "name": "familial hemophagocytic lymphohistiocytosis 5",
        "description": "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110925",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110925",
            "name": "FHL5",
            "description": ""
        },
        {
            "id": "DOID:0110925",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110925",
            "name": "HLH5",
            "description": ""
        },
        {
            "id": "DOID:0110925",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110925",
            "name": "HPLH5",
            "description": ""
        },
        {
            "id": "MONDO:0013135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013135",
            "name": "familial hemophagocytic lymphohistiocytosis 5",
            "description": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene."
        },
        {
            "id": "MONDO:0013135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013135",
            "name": "FHL5",
            "description": ""
        },
        {
            "id": "MONDO:0013135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013135",
            "name": "STXBP2 genetic hemophagocytic lymphohistiocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0013135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013135",
            "name": "familial hemophagocytic lymphohistiocytosis type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013135",
            "name": "genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2",
            "description": ""
        },
        {
            "id": "MONDO:0013135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013135",
            "name": "hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease",
            "description": ""
        },
        {
            "id": "MONDO:0013135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013135",
            "name": "hemophagocytic lymphohistiocytosis, familial, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013135",
            "name": "hemophagocytic lymphohistiocytosis, familial, 5",
            "description": ""
        },
        {
            "id": "MIM:613101",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613101",
            "name": "Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease",
            "description": "Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110925"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110925",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110925",
            "categories": []
        },
        {
            "id": "MONDO:0013135",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013135",
            "categories": []
        },
        {
            "id": "MIM:613101",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613101",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q64324-1",
            "uniprot_ac": "Q64324",
            "uniprot_id": "STXB2_MOUSE",
            "refseq_ac": "NP_035633",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Munc-18b",
                    "type": "synonym"
                },
                {
                    "name": "Munc18-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Unc-18B",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-2",
                    "type": "synonym"
                },
                {
                    "name": "muSec1",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin binding protein Munc18-2",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-binding protein 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stxbp2",
                    "type": "recommended"
                },
                {
                    "name": "Munc-18-2",
                    "type": "synonym"
                },
                {
                    "name": "Munc-18b",
                    "type": "synonym"
                },
                {
                    "name": "Munc18b",
                    "type": "synonym"
                },
                {
                    "name": "Stxbp2",
                    "type": "synonym"
                },
                {
                    "name": "Sxtbp2",
                    "type": "synonym"
                },
                {
                    "name": "Sxtp2",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-2",
                    "type": "synonym"
                },
                {
                    "name": "Unc18b",
                    "type": "synonym"
                },
                {
                    "name": "muSec1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64324-1",
            "evidence": [
                {
                    "id": "0110925",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110925"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15833-1",
            "uniprot_ac": "Q15833",
            "uniprot_id": "STXB2_HUMAN",
            "refseq_ac": "NP_001120868",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Munc18-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Unc-18B",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-2",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-binding protein 2 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STXBP2",
                    "type": "recommended"
                },
                {
                    "name": "Hunc18b",
                    "type": "synonym"
                },
                {
                    "name": "MUNC18-2",
                    "type": "synonym"
                },
                {
                    "name": "STXBP2",
                    "type": "synonym"
                },
                {
                    "name": "UNC18-2",
                    "type": "synonym"
                },
                {
                    "name": "UNC18B",
                    "type": "synonym"
                },
                {
                    "name": "pp10122",
                    "type": "synonym"
                },
                {
                    "name": "unc-18B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15833-1",
            "evidence": [
                {
                    "id": "613101",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613101"
                },
                {
                    "id": "0110925",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110925"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30619-1",
            "uniprot_ac": "P30619",
            "uniprot_id": "SEC1_YEAST",
            "refseq_ac": "NP_010448",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein SEC1",
                    "type": "recommended"
                },
                {
                    "name": "Sec1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC1",
                    "type": "recommended"
                },
                {
                    "name": "SEC1",
                    "type": "synonym"
                },
                {
                    "name": "YD8358.18C",
                    "type": "synonym"
                }
            ],
            "record_id": "P30619-1",
            "evidence": [
                {
                    "id": "0110925",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110925"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62753-1",
            "uniprot_ac": "Q62753",
            "uniprot_id": "STXB2_RAT",
            "refseq_ac": "NP_112388",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Munc18-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Unc-18B",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-2",
                    "type": "synonym"
                },
                {
                    "name": "munc18-2",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin binding protein Munc18-2",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-binding protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "unc-18 homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "unc-18 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "unc-18B",
                    "type": "synonym"
                },
                {
                    "name": "unc18-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stxbp2",
                    "type": "recommended"
                },
                {
                    "name": "Munc18b",
                    "type": "synonym"
                },
                {
                    "name": "Stxbp2",
                    "type": "synonym"
                },
                {
                    "name": "Unc18b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62753-1",
            "evidence": [
                {
                    "id": "0110925",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110925"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07327-1",
            "uniprot_ac": "Q07327",
            "uniprot_id": "ROP_DROME",
            "refseq_ac": "NP_001261404",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein ROP",
                    "type": "recommended"
                },
                {
                    "name": "CG15811-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ras opposite, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rop-PB",
                    "type": "synonym"
                },
                {
                    "name": "ras opposite",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rop",
                    "type": "recommended"
                },
                {
                    "name": "CG15811",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15811",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15811",
                    "type": "synonym"
                },
                {
                    "name": "ROP",
                    "type": "synonym"
                },
                {
                    "name": "Rop",
                    "type": "synonym"
                },
                {
                    "name": "SEC1",
                    "type": "synonym"
                },
                {
                    "name": "Unc18",
                    "type": "synonym"
                },
                {
                    "name": "cs1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)64Ah",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SH16",
                    "type": "synonym"
                },
                {
                    "name": "ras2",
                    "type": "synonym"
                },
                {
                    "name": "rop(Sec1)",
                    "type": "synonym"
                },
                {
                    "name": "rop",
                    "type": "synonym"
                },
                {
                    "name": "sec1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07327-1",
            "evidence": [
                {
                    "id": "0110925",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110925"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110925"
}