{
    "disease_id": "DOID:0061062",
    "recommended_name": {
        "id": "DOID:0061062",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061062",
        "name": "immunodeficiency 92",
        "description": "A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16."
    },
    "synonyms": [
        {
            "id": "MONDO:0030498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030498",
            "name": "immunodeficiency 92",
            "description": "An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative."
        },
        {
            "id": "MONDO:0030498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030498",
            "name": "IMD92",
            "description": ""
        },
        {
            "id": "MONDO:0030498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030498",
            "name": "immunodeficiency due to REL deficiency",
            "description": ""
        },
        {
            "id": "MIM:619652",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619652",
            "name": "Immunodeficiency 92",
            "description": "Immunodeficiency 92"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061062"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061062",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061062",
            "categories": []
        },
        {
            "id": "MONDO:0030498",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030498",
            "categories": []
        },
        {
            "id": "MIM:619652",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619652",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P15307-1",
            "uniprot_ac": "P15307",
            "uniprot_id": "REL_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proto-oncogene c-Rel",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Rel",
                    "type": "recommended"
                }
            ],
            "record_id": "P15307-1",
            "evidence": [
                {
                    "id": "0061062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04864-1",
            "uniprot_ac": "Q04864",
            "uniprot_id": "REL_HUMAN",
            "refseq_ac": "NP_001278675",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proto-oncogene c-Rel",
                    "type": "recommended"
                },
                {
                    "name": "oncogene REL, avian reticuloendotheliosis",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Rel isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Rel",
                    "type": "synonym"
                },
                {
                    "name": "v-rel avian reticuloendotheliosis viral oncogene homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "REL",
                    "type": "recommended"
                },
                {
                    "name": "C-Rel",
                    "type": "synonym"
                },
                {
                    "name": "HIVEN86A",
                    "type": "synonym"
                },
                {
                    "name": "IMD92",
                    "type": "synonym"
                },
                {
                    "name": "REL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04864-1",
            "evidence": [
                {
                    "id": "619652",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619652"
                },
                {
                    "id": "0061062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M5R1-1",
            "uniprot_ac": "F1M5R1",
            "uniprot_id": "F1M5R1_RAT",
            "refseq_ac": "NP_001408243",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "REL proto-oncogene, NF-kB subunit",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Rel",
                    "type": "synonym"
                },
                {
                    "name": "reticuloendotheliosis oncogene",
                    "type": "synonym"
                },
                {
                    "name": "v-rel avian reticuloendotheliosis viral oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "v-rel reticuloendotheliosis viral oncogene homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rel",
                    "type": "recommended"
                },
                {
                    "name": "Rel",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M5R1-1",
            "evidence": [
                {
                    "id": "0061062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15330-1",
            "uniprot_ac": "P15330",
            "uniprot_id": "DORS_DROME",
            "refseq_ac": "NP_001163000",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Embryonic polarity protein dorsal",
                    "type": "recommended"
                },
                {
                    "name": "CG6667-PD",
                    "type": "synonym"
                },
                {
                    "name": "DORSAL",
                    "type": "synonym"
                },
                {
                    "name": "Dorsal/NF-kappaB",
                    "type": "synonym"
                },
                {
                    "name": "NFkappabeta",
                    "type": "synonym"
                },
                {
                    "name": "dl-PD",
                    "type": "synonym"
                },
                {
                    "name": "dorsal, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "embryonic polarity protein dorsal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dl",
                    "type": "recommended"
                },
                {
                    "name": "CG6667",
                    "type": "synonym"
                },
                {
                    "name": "DL",
                    "type": "synonym"
                },
                {
                    "name": "Dl",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6667",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6667",
                    "type": "synonym"
                },
                {
                    "name": "Dorsal",
                    "type": "synonym"
                },
                {
                    "name": "Dor",
                    "type": "synonym"
                },
                {
                    "name": "GSd447",
                    "type": "synonym"
                },
                {
                    "name": "NF-KB",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappaB",
                    "type": "synonym"
                },
                {
                    "name": "NFkappaB",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:GressD7",
                    "type": "synonym"
                },
                {
                    "name": "dL",
                    "type": "synonym"
                },
                {
                    "name": "dl",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)k10816",
                    "type": "synonym"
                },
                {
                    "name": "mat(2)dorsal",
                    "type": "synonym"
                },
                {
                    "name": "p65",
                    "type": "synonym"
                }
            ],
            "record_id": "P15330-1",
            "evidence": [
                {
                    "id": "0061062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98149-1",
            "uniprot_ac": "P98149",
            "uniprot_id": "DIF_DROME",
            "refseq_ac": "NP_001162999",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dorsal-related immunity factor Dif",
                    "type": "recommended"
                },
                {
                    "name": "CG6794-PD",
                    "type": "synonym"
                },
                {
                    "name": "Dif-PD",
                    "type": "synonym"
                },
                {
                    "name": "Dorsal-like immunity factor",
                    "type": "synonym"
                },
                {
                    "name": "Dorsal-related immunity factor, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Dorsal-related transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "dorsal related immunity factor",
                    "type": "synonym"
                },
                {
                    "name": "dorsal-related immunity factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dif",
                    "type": "recommended"
                },
                {
                    "name": "6794",
                    "type": "synonym"
                },
                {
                    "name": "CG6794",
                    "type": "synonym"
                },
                {
                    "name": "DIF",
                    "type": "synonym"
                },
                {
                    "name": "Dif2",
                    "type": "synonym"
                },
                {
                    "name": "Dif",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6794",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6794",
                    "type": "synonym"
                },
                {
                    "name": "NF-KB",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappaB",
                    "type": "synonym"
                },
                {
                    "name": "NFkappaB",
                    "type": "synonym"
                },
                {
                    "name": "dif",
                    "type": "synonym"
                }
            ],
            "record_id": "P98149-1",
            "evidence": [
                {
                    "id": "0061062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061062"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061062"
}