{
    "disease_id": "DOID:0110922",
    "recommended_name": {
        "id": "DOID:0110922",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110922",
        "name": "familial hemophagocytic lymphohistiocytosis 2",
        "description": "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110922",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110922",
            "name": "FHL2",
            "description": ""
        },
        {
            "id": "DOID:0110922",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110922",
            "name": "HLH2",
            "description": ""
        },
        {
            "id": "DOID:0110922",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110922",
            "name": "HPLH2",
            "description": ""
        },
        {
            "id": "MONDO:0011337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011337",
            "name": "familial hemophagocytic lymphohistiocytosis 2",
            "description": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene."
        },
        {
            "id": "MONDO:0011337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011337",
            "name": "FHL2",
            "description": ""
        },
        {
            "id": "MONDO:0011337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011337",
            "name": "HLH2",
            "description": ""
        },
        {
            "id": "MONDO:0011337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011337",
            "name": "HPLH2",
            "description": ""
        },
        {
            "id": "MONDO:0011337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011337",
            "name": "PRF1 genetic hemophagocytic lymphohistiocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0011337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011337",
            "name": "familial hemophagocytic lymphohistiocytosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011337",
            "name": "genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1",
            "description": ""
        },
        {
            "id": "MONDO:0011337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011337",
            "name": "hemophagocytic lymphohistiocytosis, familial, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011337",
            "name": "hemophagocytic lymphohistiocytosis, familial, 2",
            "description": ""
        },
        {
            "id": "MIM:603553",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603553",
            "name": "Hemophagocytic lymphohistiocytosis, familial, 2",
            "description": "Hemophagocytic lymphohistiocytosis, familial, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110922"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110922",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110922",
            "categories": []
        },
        {
            "id": "MONDO:0011337",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011337",
            "categories": []
        },
        {
            "id": "MIM:603553",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603553",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UYU9-1",
            "uniprot_ac": "A0A8N7UYU9",
            "uniprot_id": "A0A8N7UYU9_DANRE",
            "refseq_ac": "NP_001116718",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Perforin 1.5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Perforin 1.5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "perforin 1.5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "perforin 8a",
                    "type": "synonym"
                },
                {
                    "name": "prf8a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prf1.5",
                    "type": "recommended"
                },
                {
                    "name": "prf1.5",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-103n10.4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UYU9-1",
            "evidence": [
                {
                    "id": "0110922",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110922"
                }
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        },
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            "uniprot_canonical_ac": "I3IS28-1",
            "uniprot_ac": "I3IS28",
            "uniprot_id": "I3IS28_DANRE",
            "refseq_ac": "XP_003200648",
            "glycoprotein": "no",
            "species": [
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                    "name": "Danio rerio",
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Perforin-1",
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            ],
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                {
                    "name": "prf1.7",
                    "type": "recommended"
                },
                {
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                    "type": "recommended"
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                {
                    "name": "prf1.7",
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            ],
            "record_id": "I3IS28-1",
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                    "id": "0110922",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110922"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58IY21-1",
            "uniprot_ac": "A0AC58IY21",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Perforin 1.9 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "perforin 1.9 isoform X1",
                    "type": "synonym"
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            ],
            "gene_names": [
                {
                    "name": "prf1.9",
                    "type": "recommended"
                },
                {
                    "name": "prf1.9",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-71f10.4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IY21-1",
            "evidence": [
                {
                    "id": "0110922",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110922"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32T9H6-1",
            "uniprot_ac": "A0AB32T9H6",
            "uniprot_id": "A0AB32T9H6_DANRE",
            "refseq_ac": "XP_068071252",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Perforin-1.3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "perforin-1.3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prf1.3",
                    "type": "recommended"
                },
                {
                    "name": "prf1.3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-89b17.6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T9H6-1",
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                    "id": "0110922",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10820-1",
            "uniprot_ac": "P10820",
            "uniprot_id": "PERF_MOUSE",
            "refseq_ac": "NP_035203",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Perforin-1",
                    "type": "recommended"
                },
                {
                    "name": "Cytolysin",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte pore-forming protein",
                    "type": "synonym"
                },
                {
                    "name": "P1",
                    "type": "synonym"
                },
                {
                    "name": "cytolysin",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte pore-forming protein",
                    "type": "synonym"
                },
                {
                    "name": "perforin-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "perforin-1",
                    "type": "synonym"
                },
                {
                    "name": "pore forming protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prf1",
                    "type": "recommended"
                },
                {
                    "name": "Pfn",
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                },
                {
                    "name": "Pfp",
                    "type": "synonym"
                },
                {
                    "name": "Prf-1",
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                },
                {
                    "name": "Prf1",
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                }
            ],
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                    "id": "0110922",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110922"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14222-1",
            "uniprot_ac": "P14222",
            "uniprot_id": "PERF_HUMAN",
            "refseq_ac": "NP_001076585",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Perforin-1",
                    "type": "recommended"
                },
                {
                    "name": "Cytolysin",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte pore-forming protein",
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                    "name": "P1",
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                    "name": "PFP",
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                    "name": "cytolysin",
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                {
                    "name": "lymphocyte pore-forming protein",
                    "type": "synonym"
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                {
                    "name": "perforin 1 (pore forming protein)",
                    "type": "synonym"
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                {
                    "name": "perforin-1 precursor",
                    "type": "synonym"
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            ],
            "gene_names": [
                {
                    "name": "PRF1",
                    "type": "recommended"
                },
                {
                    "name": "HPLH2",
                    "type": "synonym"
                },
                {
                    "name": "P1",
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                    "name": "PFP",
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            ]
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        {
            "uniprot_canonical_ac": "P35763-1",
            "uniprot_ac": "P35763",
            "uniprot_id": "PERF_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Perforin-1",
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                {
                    "name": "Cytolysin",
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                    "name": "Lymphocyte pore-forming protein",
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                {
                    "name": "Prf1",
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                    "name": "Pfp",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110922"
}