{
    "disease_id": "DOID:0110923",
    "recommended_name": {
        "id": "DOID:0110923",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110923",
        "name": "familial hemophagocytic lymphohistiocytosis 3",
        "description": "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110923",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110923",
            "name": "FHL3",
            "description": ""
        },
        {
            "id": "DOID:0110923",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110923",
            "name": "HLH3",
            "description": ""
        },
        {
            "id": "DOID:0110923",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110923",
            "name": "HPLH3",
            "description": ""
        },
        {
            "id": "MONDO:0012146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012146",
            "name": "familial hemophagocytic lymphohistiocytosis 3",
            "description": "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene."
        },
        {
            "id": "MONDO:0012146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012146",
            "name": "FHL3",
            "description": ""
        },
        {
            "id": "MONDO:0012146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012146",
            "name": "HLH3",
            "description": ""
        },
        {
            "id": "MONDO:0012146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012146",
            "name": "HPLH3",
            "description": ""
        },
        {
            "id": "MONDO:0012146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012146",
            "name": "UNC13D genetic hemophagocytic lymphohistiocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0012146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012146",
            "name": "familial hemophagocytic lymphohistiocytosis type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012146",
            "name": "genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D",
            "description": ""
        },
        {
            "id": "MONDO:0012146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012146",
            "name": "hemophagocytic lymphohistiocytosis, familial, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012146",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012146",
            "name": "hemophagocytic lymphohistiocytosis, familial, 3",
            "description": ""
        },
        {
            "id": "MIM:608898",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608898",
            "name": "Hemophagocytic lymphohistiocytosis, familial, 3",
            "description": "Hemophagocytic lymphohistiocytosis, familial, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110923"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110923",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110923",
            "categories": []
        },
        {
            "id": "MONDO:0012146",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012146",
            "categories": []
        },
        {
            "id": "MIM:608898",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608898",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F6NFN1-1",
            "uniprot_ac": "F6NFN1",
            "uniprot_id": "F6NFN1_DANRE",
            "refseq_ac": "XP_009305114",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-13 homolog D",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-13 homolog D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "unc13d",
                    "type": "recommended"
                },
                {
                    "name": "unc13d",
                    "type": "synonym"
                }
            ],
            "record_id": "F6NFN1-1",
            "evidence": [
                {
                    "id": "0110923",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110923"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RUP2-1",
            "uniprot_ac": "B2RUP2",
            "uniprot_id": "UN13D_MOUSE",
            "refseq_ac": "NP_001009573",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-13 homolog D",
                    "type": "recommended"
                },
                {
                    "name": "Munc13-4",
                    "type": "synonym"
                },
                {
                    "name": "likely ortholog of H. sapiens unc-13 homolog D (UNC13D)",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-13 homolog D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Unc13d",
                    "type": "recommended"
                },
                {
                    "name": "2610108D09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Jinx",
                    "type": "synonym"
                },
                {
                    "name": "Munc13-4",
                    "type": "synonym"
                },
                {
                    "name": "Unc13d",
                    "type": "synonym"
                },
                {
                    "name": "mFLJ00067",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RUP2-1",
            "evidence": [
                {
                    "id": "0110923",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110923"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q70J99-1",
            "uniprot_ac": "Q70J99",
            "uniprot_id": "UN13D_HUMAN",
            "refseq_ac": "NP_954712",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-13 homolog D",
                    "type": "recommended"
                },
                {
                    "name": "Munc13-4",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-13 homolog D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UNC13D",
                    "type": "recommended"
                },
                {
                    "name": "HLH3",
                    "type": "synonym"
                },
                {
                    "name": "HPLH3",
                    "type": "synonym"
                },
                {
                    "name": "Munc13-4",
                    "type": "synonym"
                },
                {
                    "name": "UNC13D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q70J99-1",
            "evidence": [
                {
                    "id": "608898",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608898"
                },
                {
                    "id": "0110923",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110923"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R189-1",
            "uniprot_ac": "Q9R189",
            "uniprot_id": "UN13D_RAT",
            "refseq_ac": "NP_620199",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein unc-13 homolog D",
                    "type": "recommended"
                },
                {
                    "name": "Munc13-4",
                    "type": "synonym"
                },
                {
                    "name": "contains two C2 domains",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-13 homolog D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Unc13d",
                    "type": "recommended"
                },
                {
                    "name": "Munc13-4",
                    "type": "synonym"
                },
                {
                    "name": "Unc13d",
                    "type": "synonym"
                },
                {
                    "name": "Unc13h4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R189-1",
            "evidence": [
                {
                    "id": "0110923",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110923"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VS41-1",
            "uniprot_ac": "Q9VS41",
            "uniprot_id": "Q9VS41_DROME",
            "refseq_ac": "NP_001261504",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32381-PC",
                    "type": "synonym"
                },
                {
                    "name": "Unc-13-4A, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Unc-13-4A, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "unc-13-4A, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "unc-13-4A-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "unc-13-4A",
                    "type": "recommended"
                },
                {
                    "name": "CG14831",
                    "type": "synonym"
                },
                {
                    "name": "CG14832",
                    "type": "synonym"
                },
                {
                    "name": "CG14833",
                    "type": "synonym"
                },
                {
                    "name": "CG32381",
                    "type": "synonym"
                },
                {
                    "name": "CG8608",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32381",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32381",
                    "type": "synonym"
                },
                {
                    "name": "UNC-13-4A",
                    "type": "synonym"
                },
                {
                    "name": "dunc-13-4A",
                    "type": "synonym"
                },
                {
                    "name": "unc-13-4A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VS41-1",
            "evidence": [
                {
                    "id": "0110923",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110923"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110923"
}