{
    "disease_id": "DOID:0061077",
    "recommended_name": {
        "id": "DOID:0061077",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061077",
        "name": "immunodeficiency 108",
        "description": "A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11."
    },
    "synonyms": [
        {
            "id": "DOID:0061077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061077",
            "name": "immunodeficiency 108 with autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0009842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009842",
            "name": "Pelger-Huet-like anomaly and episodic fever with abdominal pain",
            "description": "An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBP."
        },
        {
            "id": "MONDO:0009842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009842",
            "name": "Pelger-Huet-like anomaly and episodic fever with abdominal pain",
            "description": ""
        },
        {
            "id": "MONDO:0009842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009842",
            "name": "immunodeficiency 108 with autoinflammation",
            "description": ""
        },
        {
            "id": "MIM:260570",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/260570",
            "name": "Immunodeficiency 108 with autoinflammation",
            "description": "Immunodeficiency 108 with autoinflammation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061077"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061077",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061077",
            "categories": []
        },
        {
            "id": "MONDO:0009842",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009842",
            "categories": []
        },
        {
            "id": "MIM:260570",
            "database": "MIM",
            "url": "https://www.omim.org/entry/260570",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PZD9-1",
            "uniprot_ac": "Q6PZD9",
            "uniprot_id": "CEBPE_MOUSE",
            "refseq_ac": "NP_997014",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCAAT/enhancer-binding protein epsilon",
                    "type": "recommended"
                },
                {
                    "name": "C/EBP epsilon",
                    "type": "synonym"
                },
                {
                    "name": "C/EBP-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CCAAT/enhancer binding protein (C/EBP), epsilon",
                    "type": "synonym"
                },
                {
                    "name": "CCAAT/enhancer-binding protein epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cebpe",
                    "type": "recommended"
                },
                {
                    "name": "C/EBPepsilon",
                    "type": "synonym"
                },
                {
                    "name": "C/EBPe",
                    "type": "synonym"
                },
                {
                    "name": "CRP1",
                    "type": "synonym"
                },
                {
                    "name": "Cebpe",
                    "type": "synonym"
                },
                {
                    "name": "Gm294",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PZD9-1",
            "evidence": [
                {
                    "id": "0061077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15744-1",
            "uniprot_ac": "Q15744",
            "uniprot_id": "CEBPE_HUMAN",
            "refseq_ac": "NP_001796",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCAAT/enhancer-binding protein epsilon",
                    "type": "recommended"
                },
                {
                    "name": "C/EBP epsilon",
                    "type": "synonym"
                },
                {
                    "name": "CCAAT/enhancer binding protein (C/EBP), epsilon",
                    "type": "synonym"
                },
                {
                    "name": "CCAAT/enhancer-binding protein epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEBPE",
                    "type": "recommended"
                },
                {
                    "name": "C/EBP-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "CEBPE",
                    "type": "synonym"
                },
                {
                    "name": "CRP1",
                    "type": "synonym"
                },
                {
                    "name": "IMD108",
                    "type": "synonym"
                },
                {
                    "name": "SGD1",
                    "type": "synonym"
                },
                {
                    "name": "c/EBP epsilon",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15744-1",
            "evidence": [
                {
                    "id": "260570",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/260570"
                },
                {
                    "id": "0061077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56261-1",
            "uniprot_ac": "P56261",
            "uniprot_id": "CEBPE_RAT",
            "refseq_ac": "NP_058791",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCAAT/enhancer-binding protein epsilon",
                    "type": "recommended"
                },
                {
                    "name": "C/EBP epsilon",
                    "type": "synonym"
                },
                {
                    "name": "C/EBP-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CCAAT/enhancer binding protein (C/EBP), epsilon",
                    "type": "synonym"
                },
                {
                    "name": "CCAAT/enhancer binding protein, epsilon",
                    "type": "synonym"
                },
                {
                    "name": "CCAAT/enhancer-binding protein epsilon",
                    "type": "synonym"
                },
                {
                    "name": "c/EBP epsilon",
                    "type": "synonym"
                },
                {
                    "name": "c/EBP-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cebpe",
                    "type": "recommended"
                },
                {
                    "name": "C/EPBe",
                    "type": "synonym"
                },
                {
                    "name": "CRP1",
                    "type": "synonym"
                },
                {
                    "name": "Cebpe",
                    "type": "synonym"
                },
                {
                    "name": "Crp1",
                    "type": "synonym"
                }
            ],
            "record_id": "P56261-1",
            "evidence": [
                {
                    "id": "0061077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02637-1",
            "uniprot_ac": "Q02637",
            "uniprot_id": "CEBP_DROME",
            "refseq_ac": "NP_001286836",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCAAT/enhancer-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "C/EBP",
                    "type": "synonym"
                },
                {
                    "name": "CCAAT/enhancer binding protein",
                    "type": "synonym"
                },
                {
                    "name": "CG4354-PB",
                    "type": "synonym"
                },
                {
                    "name": "Slow border cell protein",
                    "type": "synonym"
                },
                {
                    "name": "slbo-PB",
                    "type": "synonym"
                },
                {
                    "name": "slow border cells, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "slow border cells",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slbo",
                    "type": "recommended"
                },
                {
                    "name": "C/EBP",
                    "type": "synonym"
                },
                {
                    "name": "CG4354",
                    "type": "synonym"
                },
                {
                    "name": "DC/EBP",
                    "type": "synonym"
                },
                {
                    "name": "DM8",
                    "type": "synonym"
                },
                {
                    "name": "Dm-c/EBP",
                    "type": "synonym"
                },
                {
                    "name": "DmC/EBP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4354",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4354",
                    "type": "synonym"
                },
                {
                    "name": "EBP",
                    "type": "synonym"
                },
                {
                    "name": "SLBO",
                    "type": "synonym"
                },
                {
                    "name": "Slbo",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)7",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)8",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)ry7",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)ry8",
                    "type": "synonym"
                },
                {
                    "name": "slbo",
                    "type": "synonym"
                },
                {
                    "name": "slobo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02637-1",
            "evidence": [
                {
                    "id": "0061077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92523-1",
            "uniprot_ac": "Q92523",
            "uniprot_id": "CPT1B_HUMAN",
            "refseq_ac": "NP_001138606",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carnitine O-palmitoyltransferase 1, muscle isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.21",
                    "type": "synonym"
                },
                {
                    "name": "CPT I",
                    "type": "synonym"
                },
                {
                    "name": "CPT1-M",
                    "type": "synonym"
                },
                {
                    "name": "CPTI-M",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine O-palmitoyltransferase I, muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine palmitoyltransferase 1B",
                    "type": "synonym"
                },
                {
                    "name": "Carnitine palmitoyltransferase I-like protein",
                    "type": "synonym"
                },
                {
                    "name": "carnitine O-palmitoyltransferase 1, muscle isoform isoform c",
                    "type": "synonym"
                },
                {
                    "name": "carnitine O-palmitoyltransferase 1B",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase 1B (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "carnitine palmitoyltransferase I-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPT1B",
                    "type": "recommended"
                },
                {
                    "name": "CPT1-M",
                    "type": "synonym"
                },
                {
                    "name": "CPT1B",
                    "type": "synonym"
                },
                {
                    "name": "CPT1M",
                    "type": "synonym"
                },
                {
                    "name": "CPTI-M",
                    "type": "synonym"
                },
                {
                    "name": "CPTI",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1670",
                    "type": "synonym"
                },
                {
                    "name": "M-CPT1",
                    "type": "synonym"
                },
                {
                    "name": "MCCPT1",
                    "type": "synonym"
                },
                {
                    "name": "MCPT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92523-1",
            "evidence": [
                {
                    "id": "0061077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061077"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061077"
}