{
    "disease_id": "DOID:0060707",
    "recommended_name": {
        "id": "DOID:0060707",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060707",
        "name": "lymphoproliferative syndrome 1",
        "description": "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32."
    },
    "synonyms": [
        {
            "id": "DOID:0060707",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060707",
            "name": "LPFS1",
            "description": ""
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "lymphoproliferative syndrome 1",
            "description": "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.."
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "ITK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "ITK lymphoproliferative syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "LPFS1",
            "description": ""
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "lymphoproliferative syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "lymphoproliferative syndrome caused by mutation in ITK",
            "description": ""
        },
        {
            "id": "MONDO:0013081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "name": "lymphoproliferative syndrome type 1",
            "description": ""
        },
        {
            "id": "MIM:613011",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613011",
            "name": "Lymphoproliferative syndrome 1",
            "description": "Lymphoproliferative syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060707"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060707",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060707",
            "categories": []
        },
        {
            "id": "MONDO:0013081",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013081",
            "categories": []
        },
        {
            "id": "MIM:613011",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613011",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58H751-1",
            "uniprot_ac": "A0AC58H751",
            "uniprot_id": "A0AC58H751_DANRE",
            "refseq_ac": "XP_073777810",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase ITK/TSK isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "itk",
                    "type": "recommended"
                },
                {
                    "name": "Ptk",
                    "type": "synonym"
                },
                {
                    "name": "itk",
                    "type": "synonym"
                },
                {
                    "name": "tec",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58H751-1",
            "evidence": [
                {
                    "id": "0060707",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060707"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03526-1",
            "uniprot_ac": "Q03526",
            "uniprot_id": "ITK_MOUSE",
            "refseq_ac": "NP_001268894",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase ITK/TSK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "IL-2-inducible T-cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "Kinase EMT",
                    "type": "synonym"
                },
                {
                    "name": "Kinase TLK",
                    "type": "synonym"
                },
                {
                    "name": "T-cell-specific kinase",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2-inducible T cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "kinase TLK",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase ITK/TSK isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase ITK/TSK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itk",
                    "type": "recommended"
                },
                {
                    "name": "Emt",
                    "type": "synonym"
                },
                {
                    "name": "Itk",
                    "type": "synonym"
                },
                {
                    "name": "Tcsk",
                    "type": "synonym"
                },
                {
                    "name": "Tlk",
                    "type": "synonym"
                },
                {
                    "name": "Tsk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03526-1",
            "evidence": [
                {
                    "id": "0060707",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060707"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08881-1",
            "uniprot_ac": "Q08881",
            "uniprot_id": "ITK_HUMAN",
            "refseq_ac": "NP_005537",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase ITK/TSK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "IL-2-inducible T-cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-2-inducible T-cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "Kinase EMT",
                    "type": "synonym"
                },
                {
                    "name": "T-cell-specific kinase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase Lyk",
                    "type": "synonym"
                },
                {
                    "name": "homolog of mouse T-cell itk/tsk",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2-inducible T-cell kinase",
                    "type": "synonym"
                },
                {
                    "name": "kinase EMT",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase ITK/TSK",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase LYK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ITK",
                    "type": "recommended"
                },
                {
                    "name": "EMT",
                    "type": "synonym"
                },
                {
                    "name": "ITK",
                    "type": "synonym"
                },
                {
                    "name": "LPFS1",
                    "type": "synonym"
                },
                {
                    "name": "LYK",
                    "type": "synonym"
                },
                {
                    "name": "PSCTK2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08881-1",
            "evidence": [
                {
                    "id": "613011",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613011"
                },
                {
                    "id": "0060707",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060707"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7W7-1",
            "uniprot_ac": "D4A7W7",
            "uniprot_id": "D4A7W7_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": "Tyrosine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itk",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A7W7-1",
            "evidence": [
                {
                    "id": "0060707",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060707"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08630-1",
            "uniprot_ac": "P08630",
            "uniprot_id": "BTKL_DROME",
            "refseq_ac": "NP_001097120",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase Btk",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "Btk family kinase at 29A",
                    "type": "synonym"
                },
                {
                    "name": "Btk-PF",
                    "type": "synonym"
                },
                {
                    "name": "Btk29A type 2",
                    "type": "synonym"
                },
                {
                    "name": "CG8049-PF",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc28C",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc29a",
                    "type": "synonym"
                },
                {
                    "name": "Src oncogene 29A",
                    "type": "synonym"
                },
                {
                    "name": "bruton tyrosine kinase, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "fickle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Btk",
                    "type": "recommended"
                },
                {
                    "name": "Btk29A",
                    "type": "synonym"
                },
                {
                    "name": "Btk29a",
                    "type": "synonym"
                },
                {
                    "name": "Btk29",
                    "type": "synonym"
                },
                {
                    "name": "Btk",
                    "type": "synonym"
                },
                {
                    "name": "C-src2",
                    "type": "synonym"
                },
                {
                    "name": "C-src4",
                    "type": "synonym"
                },
                {
                    "name": "CG18355",
                    "type": "synonym"
                },
                {
                    "name": "CG8049",
                    "type": "synonym"
                },
                {
                    "name": "CT2415",
                    "type": "synonym"
                },
                {
                    "name": "CT41718",
                    "type": "synonym"
                },
                {
                    "name": "DSrc28",
                    "type": "synonym"
                },
                {
                    "name": "DTec29",
                    "type": "synonym"
                },
                {
                    "name": "Dm SRC2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8049",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8049",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc28C",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc29A",
                    "type": "synonym"
                },
                {
                    "name": "EC2-9",
                    "type": "synonym"
                },
                {
                    "name": "S13",
                    "type": "synonym"
                },
                {
                    "name": "SRC 29A",
                    "type": "synonym"
                },
                {
                    "name": "Src29A",
                    "type": "synonym"
                },
                {
                    "name": "Src2",
                    "type": "synonym"
                },
                {
                    "name": "Tec29A",
                    "type": "synonym"
                },
                {
                    "name": "Tec29",
                    "type": "synonym"
                },
                {
                    "name": "Tec",
                    "type": "synonym"
                },
                {
                    "name": "btk29A",
                    "type": "synonym"
                },
                {
                    "name": "btk29a",
                    "type": "synonym"
                },
                {
                    "name": "btk29",
                    "type": "synonym"
                },
                {
                    "name": "btk",
                    "type": "synonym"
                },
                {
                    "name": "c-src/fps",
                    "type": "synonym"
                },
                {
                    "name": "dsrc29A",
                    "type": "synonym"
                },
                {
                    "name": "fic",
                    "type": "synonym"
                },
                {
                    "name": "fps",
                    "type": "synonym"
                },
                {
                    "name": "src-4",
                    "type": "synonym"
                },
                {
                    "name": "src28C",
                    "type": "synonym"
                },
                {
                    "name": "src2",
                    "type": "synonym"
                },
                {
                    "name": "src4",
                    "type": "synonym"
                },
                {
                    "name": "tec29",
                    "type": "synonym"
                }
            ],
            "record_id": "P08630-1",
            "evidence": [
                {
                    "id": "0060707",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060707"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060707"
}