{
    "disease_id": "DOID:0050120",
    "recommended_name": {
        "id": "DOID:0050120",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050120",
        "name": "hemophagocytic lymphohistiocytosis",
        "description": "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages."
    },
    "synonyms": [
        {
            "id": "DOID:0050120",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050120",
            "name": "haemophagocytic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009974",
            "name": "familial hemophagocytic lymphohistiocytosis type 1",
            "description": "Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth."
        },
        {
            "id": "MONDO:0009974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009974",
            "name": "familial hemophagocytic lymphohistiocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0009974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009974",
            "name": "FHL1",
            "description": ""
        },
        {
            "id": "MONDO:0009974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009974",
            "name": "HLH1",
            "description": ""
        },
        {
            "id": "MONDO:0009974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009974",
            "name": "HPLH1",
            "description": ""
        },
        {
            "id": "MONDO:0009974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009974",
            "name": "familial HLH",
            "description": ""
        },
        {
            "id": "MONDO:0009974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009974",
            "name": "familial hemophagocytic lymphohistiocytosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009974",
            "name": "hemophagocytic lymphohistiocytosis, familial, 1",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0110922",
            "label": "familial hemophagocytic lymphohistiocytosis 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110923",
            "label": "familial hemophagocytic lymphohistiocytosis 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110924",
            "label": "familial hemophagocytic lymphohistiocytosis 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110925",
            "label": "familial hemophagocytic lymphohistiocytosis 5",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110925",
        "DOID:0110924",
        "DOID:0050120",
        "DOID:0110922",
        "DOID:0110923"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050120",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050120",
            "categories": []
        },
        {
            "id": "MONDO:0009974",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009974",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9ERI2-1",
            "uniprot_ac": "Q9ERI2",
            "uniprot_id": "RB27A_MOUSE",
            "refseq_ac": "NP_001288159",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-27A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ashen",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-27A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab27a",
                    "type": "recommended"
                },
                {
                    "name": "2210402C08Rik",
                    "type": "synonym"
                },
                {
                    "name": "2410003M20Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933437C11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rab27a",
                    "type": "synonym"
                },
                {
                    "name": "ash",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERI2-1",
            "evidence": [
                {
                    "id": "0050120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TT37-1",
            "uniprot_ac": "Q7TT37",
            "uniprot_id": "ELP1_MOUSE",
            "refseq_ac": "NP_080355",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongator complex protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ELP1",
                    "type": "synonym"
                },
                {
                    "name": "IKK complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "IKK-complex-associated protein IKAP",
                    "type": "synonym"
                },
                {
                    "name": "IkappaB kinase complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "elongator complex protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ikappaB kinase complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappa light polypeptide enhancer in B cells, kinase complex-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elp1",
                    "type": "recommended"
                },
                {
                    "name": "3110040G09Rik",
                    "type": "synonym"
                },
                {
                    "name": "6030413P05",
                    "type": "synonym"
                },
                {
                    "name": "Elp1",
                    "type": "synonym"
                },
                {
                    "name": "IKAP",
                    "type": "synonym"
                },
                {
                    "name": "Ikap",
                    "type": "synonym"
                },
                {
                    "name": "Ikbkap",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TT37-1",
            "evidence": [
                {
                    "id": "0050120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2VLH6-1",
            "uniprot_ac": "Q2VLH6",
            "uniprot_id": "C163A_MOUSE",
            "refseq_ac": "NP_444324",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Scavenger receptor cysteine-rich type 1 protein M130",
                    "type": "recommended"
                },
                {
                    "name": "scavenger receptor cysteine-rich type 1 protein M130 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "scavenger receptor cysteine-rich type 1 protein M130",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd163",
                    "type": "recommended"
                },
                {
                    "name": "CD163v2",
                    "type": "synonym"
                },
                {
                    "name": "CD163v3",
                    "type": "synonym"
                },
                {
                    "name": "Cd163",
                    "type": "synonym"
                },
                {
                    "name": "M130",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2VLH6-1",
            "evidence": [
                {
                    "id": "0050120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70380-1",
            "uniprot_ac": "P70380",
            "uniprot_id": "IL18_MOUSE",
            "refseq_ac": "NP_032386",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-18",
                    "type": "recommended"
                },
                {
                    "name": "IFN-gamma-inducing factor",
                    "type": "synonym"
                },
                {
                    "name": "IL-1 gamma",
                    "type": "synonym"
                },
                {
                    "name": "IL-18",
                    "type": "synonym"
                },
                {
                    "name": "Interferon gamma-inducing factor",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-1 gamma",
                    "type": "synonym"
                },
                {
                    "name": "interferon gamma-inducing factor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-1 gamma",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-18 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il18",
                    "type": "recommended"
                },
                {
                    "name": "Igif",
                    "type": "synonym"
                },
                {
                    "name": "Il-18",
                    "type": "synonym"
                },
                {
                    "name": "Il18",
                    "type": "synonym"
                }
            ],
            "record_id": "P70380-1",
            "evidence": [
                {
                    "id": "0050120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06706-1",
            "uniprot_ac": "Q06706",
            "uniprot_id": "ELP1_YEAST",
            "refseq_ac": "NP_013488",
            "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": "Elongator complex protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Elongator subunit IKI3",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-toxin target 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein IKI3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IKI3",
                    "type": "recommended"
                },
                {
                    "name": "ELP1",
                    "type": "synonym"
                },
                {
                    "name": "IKI3",
                    "type": "synonym"
                },
                {
                    "name": "KTI7",
                    "type": "synonym"
                },
                {
                    "name": "L3502.7",
                    "type": "synonym"
                },
                {
                    "name": "TOT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06706-1",
            "evidence": [
                {
                    "id": "0050120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JVY2-1",
            "uniprot_ac": "A0A0G2JVY2",
            "uniprot_id": "A0A0G2JVY2_RAT",
            "refseq_ac": "XP_006237414",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Scavenger receptor cysteine-rich type 1 protein M130",
                    "type": "recommended"
                },
                {
                    "name": "scavenger receptor cysteine-rich type 1 protein M130 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd163",
                    "type": "recommended"
                },
                {
                    "name": "Cd163",
                    "type": "synonym"
                },
                {
                    "name": "ED2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JVY2-1",
            "evidence": [
                {
                    "id": "0050120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97636-1",
            "uniprot_ac": "P97636",
            "uniprot_id": "IL18_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-18",
                    "type": "recommended"
                },
                {
                    "name": "IFN-gamma-inducing factor",
                    "type": "synonym"
                },
                {
                    "name": "IL-1 gamma",
                    "type": "synonym"
                },
                {
                    "name": "IL-18",
                    "type": "synonym"
                },
                {
                    "name": "Interferon gamma-inducing factor",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-1 gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il18",
                    "type": "recommended"
                },
                {
                    "name": "Igif",
                    "type": "synonym"
                }
            ],
            "record_id": "P97636-1",
            "evidence": [
                {
                    "id": "0050120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23640-1",
            "uniprot_ac": "P23640",
            "uniprot_id": "RB27A_RAT",
            "refseq_ac": "NP_059013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related protein Rab-27A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein Ram",
                    "type": "synonym"
                },
                {
                    "name": "Rab-27",
                    "type": "synonym"
                },
                {
                    "name": "Ram p25",
                    "type": "synonym"
                },
                {
                    "name": "low Mr GTP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "rab-27",
                    "type": "synonym"
                },
                {
                    "name": "ram p25",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-27A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab27a",
                    "type": "recommended"
                },
                {
                    "name": "Rab27a",
                    "type": "synonym"
                },
                {
                    "name": "Rab27",
                    "type": "synonym"
                },
                {
                    "name": "ram",
                    "type": "synonym"
                }
            ],
            "record_id": "P23640-1",
            "evidence": [
                {
                    "id": "0050120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VHU4-1",
            "uniprot_ac": "Q8VHU4",
            "uniprot_id": "ELP1_RAT",
            "refseq_ac": "NP_543175",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongator complex protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ELP1",
                    "type": "synonym"
                },
                {
                    "name": "IKK complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "IkappaB kinase complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "elongator complex protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "elongator complex protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ikappaB kinase complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappa light polypeptide enhancer in B-cells, kinase complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elp1",
                    "type": "recommended"
                },
                {
                    "name": "Elp1",
                    "type": "synonym"
                },
                {
                    "name": "IKAP",
                    "type": "synonym"
                },
                {
                    "name": "Ikap",
                    "type": "synonym"
                },
                {
                    "name": "Ikbkap",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VHU4-1",
            "evidence": [
                {
                    "id": "0050120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGK7-1",
            "uniprot_ac": "Q9VGK7",
            "uniprot_id": "ELP1_DROME",
            "refseq_ac": "NP_650098",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongator complex protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CG10535-PA",
                    "type": "synonym"
                },
                {
                    "name": "Elp1-PA",
                    "type": "synonym"
                },
                {
                    "name": "elongator complex protein 1, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elp1",
                    "type": "recommended"
                },
                {
                    "name": "CG10535",
                    "type": "synonym"
                },
                {
                    "name": "D-elp1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10535",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10535",
                    "type": "synonym"
                },
                {
                    "name": "ELP1",
                    "type": "synonym"
                },
                {
                    "name": "Elp1",
                    "type": "synonym"
                },
                {
                    "name": "elp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGK7-1",
            "evidence": [
                {
                    "id": "0050120",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050120"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76901-1",
            "uniprot_ac": "O76901",
            "uniprot_id": "O76901_DROME",
            "refseq_ac": "NP_726743",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14791-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rab27, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rab27-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab27",
                    "type": "recommended"
                },
                {
                    "name": "18543235",
                    "type": "synonym"
                },
                {
                    "name": "AAF45634",
                    "type": "synonym"
                },
                {
                    "name": "AAF45635",
                    "type": "synonym"
                },
                {
                    "name": "CG14791",
                    "type": "synonym"
                },
                {
                    "name": "DmRab27",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14791",
                    "type": "synonym"
                },
                {
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050120"
}