{
    "disease_id": "DOID:0111937",
    "recommended_name": {
        "id": "DOID:0111937",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111937",
        "name": "immunodeficiency 22",
        "description": "A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111937",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111937",
            "name": "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111937",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111937",
            "name": "IMD22",
            "description": ""
        },
        {
            "id": "DOID:0111937",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111937",
            "name": "SCID due to LCK deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111937",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111937",
            "name": "severe combined immunodeficiency due to LCK deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111937",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111937",
            "name": "SCID due to lymphocyte-specific protein tyrosine kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014334",
            "name": "severe combined immunodeficiency due to LCK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014334",
            "name": "SCID due to LCK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014334",
            "name": "SCID due to lymphocyte-specific protein tyrosine kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014334",
            "name": "immunodeficiency type 22",
            "description": ""
        },
        {
            "id": "MONDO:0014334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014334",
            "name": "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014334",
            "name": "IMD22",
            "description": ""
        },
        {
            "id": "MONDO:0014334",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014334",
            "name": "immunodeficiency 22",
            "description": ""
        },
        {
            "id": "MIM:615758",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615758",
            "name": "Immunodeficiency 22",
            "description": "Immunodeficiency 22"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111937"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111937",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111937",
            "categories": []
        },
        {
            "id": "MONDO:0014334",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014334",
            "categories": []
        },
        {
            "id": "MIM:615758",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615758",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P06240-1",
            "uniprot_ac": "P06240",
            "uniprot_id": "LCK_MOUSE",
            "refseq_ac": "NP_001155905",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proto-oncogene tyrosine-protein kinase LCK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "LSK",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte C-terminal Src kinase",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte cell-specific protein-tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte C-terminal Src kinase",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte cell-specific protein-tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte protein tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "p56-LCK",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase LCK isoform b",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase LCK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lck",
                    "type": "recommended"
                },
                {
                    "name": "Hck-3",
                    "type": "synonym"
                },
                {
                    "name": "Lck",
                    "type": "synonym"
                },
                {
                    "name": "Lsk-t",
                    "type": "synonym"
                },
                {
                    "name": "Lskt",
                    "type": "synonym"
                },
                {
                    "name": "Lsk",
                    "type": "synonym"
                },
                {
                    "name": "p56<lck>",
                    "type": "synonym"
                },
                {
                    "name": "p56Lck",
                    "type": "synonym"
                }
            ],
            "record_id": "P06240-1",
            "evidence": [
                {
                    "id": "0111937",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111937"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06239-1",
            "uniprot_ac": "P06239",
            "uniprot_id": "LCK_HUMAN",
            "refseq_ac": "NP_001036236",
            "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 Lck",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "LSK",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte C-terminal Src kinase",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte cell-specific protein-tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Protein YT16",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene Lck",
                    "type": "synonym"
                },
                {
                    "name": "T cell-specific protein-tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "T-lymphocyte specific protein tyrosine kinase p56lck",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte C-terminal Src kinase",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte cell-specific protein-tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "p56(LSTRA) protein-tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "p56-LCK",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase LCK",
                    "type": "synonym"
                },
                {
                    "name": "t cell-specific protein-tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase Lck isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LCK",
                    "type": "recommended"
                },
                {
                    "name": "IMD22",
                    "type": "synonym"
                },
                {
                    "name": "LCK",
                    "type": "synonym"
                },
                {
                    "name": "LSK",
                    "type": "synonym"
                },
                {
                    "name": "YT16",
                    "type": "synonym"
                },
                {
                    "name": "p56lck",
                    "type": "synonym"
                },
                {
                    "name": "pp58lck",
                    "type": "synonym"
                }
            ],
            "record_id": "P06239-1",
            "evidence": [
                {
                    "id": "615758",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615758"
                },
                {
                    "id": "0111937",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111937"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01621-1",
            "uniprot_ac": "Q01621",
            "uniprot_id": "LCK_RAT",
            "refseq_ac": "NP_001094179",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proto-oncogene tyrosine-protein kinase LCK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte cell-specific protein-tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte cell-specific protein-tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte protein tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte-specific protein tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "p56-LCK",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene tyrosine-protein kinase LCK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lck",
                    "type": "recommended"
                },
                {
                    "name": "Lck1",
                    "type": "synonym"
                },
                {
                    "name": "Lcktkr",
                    "type": "synonym"
                },
                {
                    "name": "Lck",
                    "type": "synonym"
                },
                {
                    "name": "p56-LCK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01621-1",
            "evidence": [
                {
                    "id": "0111937",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111937"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9J3-1",
            "uniprot_ac": "Q9V9J3",
            "uniprot_id": "SRC42_DROME",
            "refseq_ac": "NP_476849",
            "glycoprotein": "no",
            "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 Src42A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "CG44128-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc41",
                    "type": "synonym"
                },
                {
                    "name": "Src oncogene at 42A, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Src42A-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase Src41",
                    "type": "synonym"
                },
                {
                    "name": "src oncogene at 42A",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of pole hole",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of raf-like-oncogene",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Src42A",
                    "type": "recommended"
                },
                {
                    "name": "CG14471",
                    "type": "synonym"
                },
                {
                    "name": "CG44128",
                    "type": "synonym"
                },
                {
                    "name": "CG7873",
                    "type": "synonym"
                },
                {
                    "name": "DSrc42A",
                    "type": "synonym"
                },
                {
                    "name": "Dm SRC41",
                    "type": "synonym"
                },
                {
                    "name": "DmHD-29",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44128",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44128",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc41",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc42A",
                    "type": "synonym"
                },
                {
                    "name": "Dtk5",
                    "type": "synonym"
                },
                {
                    "name": "HD-29",
                    "type": "synonym"
                },
                {
                    "name": "SK2-4",
                    "type": "synonym"
                },
                {
                    "name": "SRC 42A",
                    "type": "synonym"
                },
                {
                    "name": "SRC42A",
                    "type": "synonym"
                },
                {
                    "name": "SRC",
                    "type": "synonym"
                },
                {
                    "name": "Src41",
                    "type": "synonym"
                },
                {
                    "name": "Src42A",
                    "type": "synonym"
                },
                {
                    "name": "Src42a",
                    "type": "synonym"
                },
                {
                    "name": "Src42",
                    "type": "synonym"
                },
                {
                    "name": "Src",
                    "type": "synonym"
                },
                {
                    "name": "Su(D-raf)1",
                    "type": "synonym"
                },
                {
                    "name": "Su(Raf)1",
                    "type": "synonym"
                },
                {
                    "name": "Su(phl)1",
                    "type": "synonym"
                },
                {
                    "name": "Su1",
                    "type": "synonym"
                },
                {
                    "name": "TK5",
                    "type": "synonym"
                },
                {
                    "name": "Tk5",
                    "type": "synonym"
                },
                {
                    "name": "dSrc42A",
                    "type": "synonym"
                },
                {
                    "name": "dSrc",
                    "type": "synonym"
                },
                {
                    "name": "dtk-5",
                    "type": "synonym"
                },
                {
                    "name": "dtk5",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k10108",
                    "type": "synonym"
                },
                {
                    "name": "pSrc",
                    "type": "synonym"
                },
                {
                    "name": "src42A",
                    "type": "synonym"
                },
                {
                    "name": "src42a",
                    "type": "synonym"
                },
                {
                    "name": "src42",
                    "type": "synonym"
                },
                {
                    "name": "src",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9J3-1",
            "evidence": [
                {
                    "id": "0111937",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111937"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00528-1",
            "uniprot_ac": "P00528",
            "uniprot_id": "SRC64_DROME",
            "refseq_ac": "NP_001014561",
            "glycoprotein": "no",
            "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 Src64B",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "CG7524-PD",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc64",
                    "type": "synonym"
                },
                {
                    "name": "Src oncogene at 64B, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Src proto oncogene sequence",
                    "type": "synonym"
                },
                {
                    "name": "Src64B-PD",
                    "type": "synonym"
                },
                {
                    "name": "mRNA-like ncRNA in embryogenesis 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Src64B",
                    "type": "recommended"
                },
                {
                    "name": "C-src1",
                    "type": "synonym"
                },
                {
                    "name": "CG7524",
                    "type": "synonym"
                },
                {
                    "name": "D-Src64B",
                    "type": "synonym"
                },
                {
                    "name": "D-src",
                    "type": "synonym"
                },
                {
                    "name": "DSRC64",
                    "type": "synonym"
                },
                {
                    "name": "DSrc64B",
                    "type": "synonym"
                },
                {
                    "name": "DSrc64",
                    "type": "synonym"
                },
                {
                    "name": "DSrc",
                    "type": "synonym"
                },
                {
                    "name": "Dm SRC1",
                    "type": "synonym"
                },
                {
                    "name": "DmHD-358",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7524",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7524",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc64B",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc64",
                    "type": "synonym"
                },
                {
                    "name": "Dsrc",
                    "type": "synonym"
                },
                {
                    "name": "HD-358",
                    "type": "synonym"
                },
                {
                    "name": "MRE5",
                    "type": "synonym"
                },
                {
                    "name": "SRC 64B",
                    "type": "synonym"
                },
                {
                    "name": "SRC64B",
                    "type": "synonym"
                },
                {
                    "name": "SRC",
                    "type": "synonym"
                },
                {
                    "name": "Src1",
                    "type": "synonym"
                },
                {
                    "name": "Src64B",
                    "type": "synonym"
                },
                {
                    "name": "Src64b",
                    "type": "synonym"
                },
                {
                    "name": "Src64",
                    "type": "synonym"
                },
                {
                    "name": "Src",
                    "type": "synonym"
                },
                {
                    "name": "c-Src",
                    "type": "synonym"
                },
                {
                    "name": "c-src",
                    "type": "synonym"
                },
                {
                    "name": "dSrc64B",
                    "type": "synonym"
                },
                {
                    "name": "dSrc",
                    "type": "synonym"
                },
                {
                    "name": "dsrc",
                    "type": "synonym"
                },
                {
                    "name": "pSrc",
                    "type": "synonym"
                },
                {
                    "name": "src1",
                    "type": "synonym"
                },
                {
                    "name": "src64B",
                    "type": "synonym"
                },
                {
                    "name": "src64b",
                    "type": "synonym"
                },
                {
                    "name": "src64",
                    "type": "synonym"
                },
                {
                    "name": "src",
                    "type": "synonym"
                }
            ],
            "record_id": "P00528-1",
            "evidence": [
                {
                    "id": "0111937",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111937"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111937"
}