{
    "disease_id": "DOID:0110924",
    "recommended_name": {
        "id": "DOID:0110924",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110924",
        "name": "familial hemophagocytic lymphohistiocytosis 4",
        "description": "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110924",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110924",
            "name": "FHL4",
            "description": ""
        },
        {
            "id": "DOID:0110924",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110924",
            "name": "HLH4",
            "description": ""
        },
        {
            "id": "DOID:0110924",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110924",
            "name": "HPLH4",
            "description": ""
        },
        {
            "id": "MONDO:0011336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011336",
            "name": "familial hemophagocytic lymphohistiocytosis 4",
            "description": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene."
        },
        {
            "id": "MONDO:0011336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011336",
            "name": "FHL4",
            "description": ""
        },
        {
            "id": "MONDO:0011336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011336",
            "name": "HLH4",
            "description": ""
        },
        {
            "id": "MONDO:0011336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011336",
            "name": "HPLH4",
            "description": ""
        },
        {
            "id": "MONDO:0011336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011336",
            "name": "STX11 genetic hemophagocytic lymphohistiocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0011336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011336",
            "name": "familial hemophagocytic lymphohistiocytosis 4",
            "description": ""
        },
        {
            "id": "MONDO:0011336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011336",
            "name": "familial hemophagocytic lymphohistiocytosis type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011336",
            "name": "genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11",
            "description": ""
        },
        {
            "id": "MONDO:0011336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011336",
            "name": "hemophagocytic lymphohistiocytosis, familial, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0011336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011336",
            "name": "hemophagocytic lymphohistiocytosis, familial, 4",
            "description": ""
        },
        {
            "id": "MIM:603552",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603552",
            "name": "Hemophagocytic lymphohistiocytosis, familial, 4",
            "description": "Hemophagocytic lymphohistiocytosis, familial, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110924"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110924",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110924",
            "categories": []
        },
        {
            "id": "MONDO:0011336",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011336",
            "categories": []
        },
        {
            "id": "MIM:603552",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603552",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D3G5-1",
            "uniprot_ac": "Q9D3G5",
            "uniprot_id": "STX11_MOUSE",
            "refseq_ac": "NP_083351",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-11",
                    "type": "recommended"
                },
                {
                    "name": "syntaxin-11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stx11",
                    "type": "recommended"
                },
                {
                    "name": "5830405C08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Stx11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D3G5-1",
            "evidence": [
                {
                    "id": "0110924",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110924"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75558-1",
            "uniprot_ac": "O75558",
            "uniprot_id": "STX11_HUMAN",
            "refseq_ac": "NP_003755",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-11",
                    "type": "recommended"
                },
                {
                    "name": "syntaxin-11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STX11",
                    "type": "recommended"
                },
                {
                    "name": "FHL4",
                    "type": "synonym"
                },
                {
                    "name": "HLH4",
                    "type": "synonym"
                },
                {
                    "name": "HPLH4",
                    "type": "synonym"
                },
                {
                    "name": "STX11",
                    "type": "synonym"
                }
            ],
            "record_id": "O75558-1",
            "evidence": [
                {
                    "id": "603552",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603552"
                },
                {
                    "id": "0110924",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110924"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32867-1",
            "uniprot_ac": "P32867",
            "uniprot_id": "SSO1_YEAST",
            "refseq_ac": "NP_015092",
            "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 SSO1",
                    "type": "recommended"
                },
                {
                    "name": "syntaxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SSO1",
                    "type": "recommended"
                },
                {
                    "name": "P1405",
                    "type": "synonym"
                },
                {
                    "name": "SSO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32867-1",
            "evidence": [
                {
                    "id": "0110924",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110924"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39926-1",
            "uniprot_ac": "P39926",
            "uniprot_id": "SSO2_YEAST",
            "refseq_ac": "NP_013908",
            "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 SSO2",
                    "type": "recommended"
                },
                {
                    "name": "syntaxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SSO2",
                    "type": "recommended"
                },
                {
                    "name": "SSO2",
                    "type": "synonym"
                },
                {
                    "name": "YM8010.13C",
                    "type": "synonym"
                }
            ],
            "record_id": "P39926-1",
            "evidence": [
                {
                    "id": "0110924",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110924"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K516-1",
            "uniprot_ac": "A0A0G2K516",
            "uniprot_id": "A0A0G2K516_RAT",
            "refseq_ac": "NP_001020809",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-11",
                    "type": "recommended"
                },
                {
                    "name": "syntaxin-11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stx11",
                    "type": "recommended"
                },
                {
                    "name": "Stx11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K516-1",
            "evidence": [
                {
                    "id": "0110924",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110924"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110924"
}