{
    "disease_id": "DOID:0111983",
    "recommended_name": {
        "id": "DOID:0111983",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111983",
        "name": "immunodeficiency 52",
        "description": "A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111983",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111983",
            "name": "IMD52",
            "description": ""
        },
        {
            "id": "DOID:0111983",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111983",
            "name": "severe combined immunodeficiency due to LAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044721",
            "name": "severe combined immunodeficiency due to LAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044721",
            "name": "SCID due to LAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0044721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044721",
            "name": "IMD52",
            "description": ""
        },
        {
            "id": "MIM:617514",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617514",
            "name": "Immunodeficiency 52",
            "description": "Immunodeficiency 52"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111983"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111983",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111983",
            "categories": []
        },
        {
            "id": "MONDO:0044721",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044721",
            "categories": []
        },
        {
            "id": "MIM:617514",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617514",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0G2KG91-1",
            "uniprot_ac": "A0A0G2KG91",
            "uniprot_id": "A0A0G2KG91_DANRE",
            "refseq_ac": "NP_001137156",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Linker for activation of T-cells family member 1",
                    "type": "synonym"
                },
                {
                    "name": "linker for activation of T-cells family member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lat",
                    "type": "recommended"
                },
                {
                    "name": "lat",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KG91-1",
            "evidence": [
                {
                    "id": "0111983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111983"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54957-1",
            "uniprot_ac": "O54957",
            "uniprot_id": "LAT_MOUSE",
            "refseq_ac": "NP_034819",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Linker for activation of T-cells family member 1",
                    "type": "recommended"
                },
                {
                    "name": "36 kDa phospho-tyrosine adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "36 kDa phosphotyrosine adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "linker for activation of T-cells family member 1",
                    "type": "synonym"
                },
                {
                    "name": "linker protein",
                    "type": "synonym"
                },
                {
                    "name": "p36-38",
                    "type": "synonym"
                },
                {
                    "name": "pp36",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lat",
                    "type": "recommended"
                },
                {
                    "name": "Lat",
                    "type": "synonym"
                },
                {
                    "name": "p36-38",
                    "type": "synonym"
                },
                {
                    "name": "pp36",
                    "type": "synonym"
                }
            ],
            "record_id": "O54957-1",
            "evidence": [
                {
                    "id": "0111983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111983"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43561-1",
            "uniprot_ac": "O43561",
            "uniprot_id": "LAT_HUMAN",
            "refseq_ac": "NP_001014987",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Linker for activation of T-cells family member 1",
                    "type": "recommended"
                },
                {
                    "name": "36 kDa phospho-tyrosine adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "36 kDa phospho-tyrosine adaptor protein",
                    "type": "synonym"
                },
                {
                    "name": "36 kDa phosphotyrosine adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "linker for activation of T cells, transmembrane adaptor",
                    "type": "synonym"
                },
                {
                    "name": "linker for activation of T-cells family member 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "linker for activation of T-cells family member 1",
                    "type": "synonym"
                },
                {
                    "name": "p36-38",
                    "type": "synonym"
                },
                {
                    "name": "pp36",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAT",
                    "type": "recommended"
                },
                {
                    "name": "IMD52",
                    "type": "synonym"
                },
                {
                    "name": "LAT1",
                    "type": "synonym"
                },
                {
                    "name": "LAT",
                    "type": "synonym"
                },
                {
                    "name": "pp36",
                    "type": "synonym"
                }
            ],
            "record_id": "O43561-1",
            "evidence": [
                {
                    "id": "617514",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617514"
                },
                {
                    "id": "0111983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111983"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70601-1",
            "uniprot_ac": "O70601",
            "uniprot_id": "LAT_RAT",
            "refseq_ac": "NP_110480",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Linker for activation of T-cells family member 1",
                    "type": "recommended"
                },
                {
                    "name": "36 kDa phospho-tyrosine adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "36 kDa phosphotyrosine adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "linker for activation of T-cells family member 1",
                    "type": "synonym"
                },
                {
                    "name": "p36-38",
                    "type": "synonym"
                },
                {
                    "name": "pp36",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lat",
                    "type": "recommended"
                },
                {
                    "name": "Lat",
                    "type": "synonym"
                }
            ],
            "record_id": "O70601-1",
            "evidence": [
                {
                    "id": "0111983",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111983"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111983"
}