{
    "disease_id": "DOID:0061052",
    "recommended_name": {
        "id": "DOID:0061052",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061052",
        "name": "immunodeficiency 81",
        "description": "A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33."
    },
    "synonyms": [
        {
            "id": "MONDO:0030302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030302",
            "name": "immunodeficiency 81",
            "description": "A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene."
        },
        {
            "id": "MONDO:0030302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030302",
            "name": "IMD81",
            "description": ""
        },
        {
            "id": "MONDO:0030302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030302",
            "name": "T-B+ severe combined immunodeficiencydue to SLP76 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0030302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030302",
            "name": "immunodeficiency 81",
            "description": ""
        },
        {
            "id": "MIM:619374",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619374",
            "name": "Immunodeficiency 81",
            "description": "Immunodeficiency 81"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061052"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061052",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061052",
            "categories": []
        },
        {
            "id": "MONDO:0030302",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030302",
            "categories": []
        },
        {
            "id": "MIM:619374",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619374",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PZU9-1",
            "uniprot_ac": "A0A8M9PZU9",
            "uniprot_id": "A0A8M9PZU9_DANRE",
            "refseq_ac": "XP_021336902",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lymphocyte cytosolic protein 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte cytosolic protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lcp2b",
                    "type": "recommended"
                },
                {
                    "name": "lcp2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PZU9-1",
            "evidence": [
                {
                    "id": "0061052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60787-1",
            "uniprot_ac": "Q60787",
            "uniprot_id": "LCP2_MOUSE",
            "refseq_ac": "NP_034826",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lymphocyte cytosolic protein 2",
                    "type": "recommended"
                },
                {
                    "name": "SH2 domain-containing leukocyte protein of 76 kDa",
                    "type": "synonym"
                },
                {
                    "name": "SLP-76 tyrosine phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "SLP76",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte cytosolic protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lcp2",
                    "type": "recommended"
                },
                {
                    "name": "Lcp2",
                    "type": "synonym"
                },
                {
                    "name": "SLP-76",
                    "type": "synonym"
                },
                {
                    "name": "SLP76",
                    "type": "synonym"
                },
                {
                    "name": "m1Khoe",
                    "type": "synonym"
                },
                {
                    "name": "twm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60787-1",
            "evidence": [
                {
                    "id": "0061052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13094-1",
            "uniprot_ac": "Q13094",
            "uniprot_id": "LCP2_HUMAN",
            "refseq_ac": "NP_005556",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lymphocyte cytosolic protein 2",
                    "type": "recommended"
                },
                {
                    "name": "76 kDa tyrosine phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing leukocyte protein of 76 kDa",
                    "type": "synonym"
                },
                {
                    "name": "SLP-76 tyrosine phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "SLP76",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte cytosolic protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LCP2",
                    "type": "recommended"
                },
                {
                    "name": "IMD81",
                    "type": "synonym"
                },
                {
                    "name": "LCP2",
                    "type": "synonym"
                },
                {
                    "name": "SLP-76",
                    "type": "synonym"
                },
                {
                    "name": "SLP76",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13094-1",
            "evidence": [
                {
                    "id": "619374",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619374"
                },
                {
                    "id": "0061052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8J8YIH6-1",
            "uniprot_ac": "A0A8J8YIH6",
            "uniprot_id": "A0A8J8YIH6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lymphocyte cytosolic protein 2",
                    "type": "recommended"
                },
                {
                    "name": "SH2 domain-containing leukocyte protein of 76 kDa",
                    "type": "synonym"
                },
                {
                    "name": "SLP-76 tyrosine phosphoprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lcp2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8J8YIH6-1",
            "evidence": [
                {
                    "id": "0061052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061052"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061052"
}