{
    "disease_id": "DOID:0111992",
    "recommended_name": {
        "id": "DOID:0111992",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111992",
        "name": "immunodeficiency 53",
        "description": "A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111992",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111992",
            "name": "IMD53",
            "description": ""
        },
        {
            "id": "MONDO:0054696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054696",
            "name": "immunodeficiency 53",
            "description": ""
        },
        {
            "id": "MONDO:0054696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054696",
            "name": "immunodeficiency 53",
            "description": ""
        },
        {
            "id": "MONDO:0054696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054696",
            "name": "IMD53",
            "description": ""
        },
        {
            "id": "MIM:617585",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617585",
            "name": "Immunodeficiency 53",
            "description": "Immunodeficiency 53"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111992"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111992",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111992",
            "categories": []
        },
        {
            "id": "MONDO:0054696",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054696",
            "categories": []
        },
        {
            "id": "MIM:617585",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617585",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P750-1",
            "uniprot_ac": "A0A8M9P750",
            "uniprot_id": "A0A8M9P750_DANRE",
            "refseq_ac": "XP_021322023",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor RelB isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor RelB isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "relb",
                    "type": "recommended"
                },
                {
                    "name": "relb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P750-1",
            "evidence": [
                {
                    "id": "0111992",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111992"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04863-1",
            "uniprot_ac": "Q04863",
            "uniprot_id": "RELB_MOUSE",
            "refseq_ac": "NP_001277386",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor RelB",
                    "type": "recommended"
                },
                {
                    "name": "avian reticuloendotheliosis viral (v-rel) oncogene related B",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor RelB isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor relB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Relb",
                    "type": "recommended"
                },
                {
                    "name": "Relb",
                    "type": "synonym"
                },
                {
                    "name": "shep",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04863-1",
            "evidence": [
                {
                    "id": "0111992",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111992"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01201-1",
            "uniprot_ac": "Q01201",
            "uniprot_id": "RELB_HUMAN",
            "refseq_ac": "NP_006500",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor RelB",
                    "type": "recommended"
                },
                {
                    "name": "I-Rel",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor RelB isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor RelB",
                    "type": "synonym"
                },
                {
                    "name": "v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)",
                    "type": "synonym"
                },
                {
                    "name": "v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RELB",
                    "type": "recommended"
                },
                {
                    "name": "I-REL",
                    "type": "synonym"
                },
                {
                    "name": "IMD53",
                    "type": "synonym"
                },
                {
                    "name": "IREL",
                    "type": "synonym"
                },
                {
                    "name": "REL-B",
                    "type": "synonym"
                },
                {
                    "name": "RELB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01201-1",
            "evidence": [
                {
                    "id": "617585",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617585"
                },
                {
                    "id": "0111992",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111992"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A8H1-1",
            "uniprot_ac": "D4A8H1",
            "uniprot_id": "D4A8H1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor RelB",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Relb",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A8H1-1",
            "evidence": [
                {
                    "id": "0111992",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111992"
                }
            ]
        },
        {
            "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": "0111992",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111992"
                }
            ]
        },
        {
            "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": "0111992",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111992"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111992"
}