{
    "disease_id": "DOID:0081143",
    "recommended_name": {
        "id": "DOID:0081143",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081143",
        "name": "agammaglobulinemia 8B",
        "description": "An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0859234",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859234",
            "name": "agammaglobulinemia 8b, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:619824",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619824",
            "name": "Agammaglobulinemia 8B, autosomal recessive",
            "description": "Agammaglobulinemia 8B, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081143"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081143",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081143",
            "categories": []
        },
        {
            "id": "MONDO:0859234",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859234",
            "categories": []
        },
        {
            "id": "MIM:619824",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619824",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P15806-1",
            "uniprot_ac": "P15806",
            "uniprot_id": "TFE2_MOUSE",
            "refseq_ac": "NP_001157620",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor E2-alpha",
                    "type": "recommended"
                },
                {
                    "name": "Immunoglobulin enhancer-binding factor E12/E47",
                    "type": "synonym"
                },
                {
                    "name": "TCF-3",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor A1",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin enhancer-binding factor E12/E47",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor A1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor E2-alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor E2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor E2a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcf3",
                    "type": "recommended"
                },
                {
                    "name": "A1",
                    "type": "synonym"
                },
                {
                    "name": "ALF2",
                    "type": "synonym"
                },
                {
                    "name": "Alf2",
                    "type": "synonym"
                },
                {
                    "name": "E12/E47",
                    "type": "synonym"
                },
                {
                    "name": "E12",
                    "type": "synonym"
                },
                {
                    "name": "E2A",
                    "type": "synonym"
                },
                {
                    "name": "E47",
                    "type": "synonym"
                },
                {
                    "name": "KA1",
                    "type": "synonym"
                },
                {
                    "name": "ME2",
                    "type": "synonym"
                },
                {
                    "name": "Me2",
                    "type": "synonym"
                },
                {
                    "name": "Pan1",
                    "type": "synonym"
                },
                {
                    "name": "Pan2",
                    "type": "synonym"
                },
                {
                    "name": "TCF-3",
                    "type": "synonym"
                },
                {
                    "name": "Tcf3",
                    "type": "synonym"
                },
                {
                    "name": "Tcfe2a",
                    "type": "synonym"
                },
                {
                    "name": "VDIR",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb21",
                    "type": "synonym"
                }
            ],
            "record_id": "P15806-1",
            "evidence": [
                {
                    "id": "0081143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15923-1",
            "uniprot_ac": "P15923",
            "uniprot_id": "TFE2_HUMAN",
            "refseq_ac": "NP_001129611",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor E2-alpha",
                    "type": "recommended"
                },
                {
                    "name": "Class B basic helix-loop-helix protein 21",
                    "type": "synonym"
                },
                {
                    "name": "E2A-HLF fusion transcript protein",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin enhancer-binding factor E12/E47",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Kappa-E2-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "NOL1-TCF3 fusion",
                    "type": "synonym"
                },
                {
                    "name": "TCF-3",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor ITF-1",
                    "type": "synonym"
                },
                {
                    "name": "VDR interacting repressor",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb21",
                    "type": "synonym"
                },
                {
                    "name": "class B basic helix-loop-helix protein 21",
                    "type": "synonym"
                },
                {
                    "name": "helix-loop-helix protein HE47",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "kappa-E2-binding factor",
                    "type": "synonym"
                },
                {
                    "name": "negative vitamin D response element-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor E2-alpha isoform E47",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor E2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor ITF-1",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D receptor-interacting repressor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TCF3",
                    "type": "recommended"
                },
                {
                    "name": "AGM8A",
                    "type": "synonym"
                },
                {
                    "name": "AGM8B",
                    "type": "synonym"
                },
                {
                    "name": "AGM8",
                    "type": "synonym"
                },
                {
                    "name": "BHLHB21",
                    "type": "synonym"
                },
                {
                    "name": "E2A",
                    "type": "synonym"
                },
                {
                    "name": "E47",
                    "type": "synonym"
                },
                {
                    "name": "ITF1",
                    "type": "synonym"
                },
                {
                    "name": "TCF-3",
                    "type": "synonym"
                },
                {
                    "name": "TCF3",
                    "type": "synonym"
                },
                {
                    "name": "VDIR",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb21",
                    "type": "synonym"
                },
                {
                    "name": "p75",
                    "type": "synonym"
                }
            ],
            "record_id": "P15923-1",
            "evidence": [
                {
                    "id": "619824",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619824"
                },
                {
                    "id": "0081143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21677-1",
            "uniprot_ac": "P21677",
            "uniprot_id": "TFE2_RAT",
            "refseq_ac": "NP_001030314",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor E2-alpha",
                    "type": "recommended"
                },
                {
                    "name": "Immunoglobulin enhancer-binding factor E12/E47",
                    "type": "synonym"
                },
                {
                    "name": "Pancreas specific transcription factor 1c",
                    "type": "synonym"
                },
                {
                    "name": "TCF-3",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "Transcription regulator Pan",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin enhancer-binding factor E12/E47",
                    "type": "synonym"
                },
                {
                    "name": "pancreas specific transcription factor 1c",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor E2-alpha isoform b",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor E2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor E2a-like",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor E2a",
                    "type": "synonym"
                },
                {
                    "name": "transcription regulator Pan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcf3",
                    "type": "recommended"
                },
                {
                    "name": "Pan2",
                    "type": "synonym"
                },
                {
                    "name": "Pan",
                    "type": "synonym"
                },
                {
                    "name": "Ptf1c",
                    "type": "synonym"
                },
                {
                    "name": "Tcf3",
                    "type": "synonym"
                },
                {
                    "name": "Tcfe2a",
                    "type": "synonym"
                }
            ],
            "record_id": "P21677-1",
            "evidence": [
                {
                    "id": "0081143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11420-1",
            "uniprot_ac": "P11420",
            "uniprot_id": "DA_DROME",
            "refseq_ac": "NP_001260340",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein daughterless",
                    "type": "recommended"
                },
                {
                    "name": "CG5102-PB",
                    "type": "synonym"
                },
                {
                    "name": "da-PB",
                    "type": "synonym"
                },
                {
                    "name": "daughter-less",
                    "type": "synonym"
                },
                {
                    "name": "daughterless, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "daughterless",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k08611",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "da",
                    "type": "recommended"
                },
                {
                    "name": "5102",
                    "type": "synonym"
                },
                {
                    "name": "CG5102",
                    "type": "synonym"
                },
                {
                    "name": "DA",
                    "type": "synonym"
                },
                {
                    "name": "Da",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5102",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5102",
                    "type": "synonym"
                },
                {
                    "name": "SC_DA",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb22",
                    "type": "synonym"
                },
                {
                    "name": "da",
                    "type": "synonym"
                },
                {
                    "name": "l(2)31Ea",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k08611",
                    "type": "synonym"
                }
            ],
            "record_id": "P11420-1",
            "evidence": [
                {
                    "id": "0081143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081143"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081143"
}