{
    "disease_id": "DOID:0081153",
    "recommended_name": {
        "id": "DOID:0081153",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081153",
        "name": "common variable immunodeficiency 11",
        "description": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0014338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014338",
            "name": "IL21-related infantile inflammatory bowel disease",
            "description": ""
        },
        {
            "id": "MONDO:0014338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014338",
            "name": "IL21-related infantile IBD",
            "description": ""
        },
        {
            "id": "MONDO:0014338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014338",
            "name": "immunodeficiency, common variable, type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014338",
            "name": "CVID11",
            "description": ""
        },
        {
            "id": "MONDO:0014338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014338",
            "name": "immunodeficiency, common variable, 11",
            "description": ""
        },
        {
            "id": "MIM:615767",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615767",
            "name": "Immunodeficiency, common variable, 11",
            "description": "Immunodeficiency, common variable, 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081153"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081153",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081153",
            "categories": []
        },
        {
            "id": "MONDO:0014338",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014338",
            "categories": []
        },
        {
            "id": "MIM:615767",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615767",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9ES17-1",
            "uniprot_ac": "Q9ES17",
            "uniprot_id": "IL21_MOUSE",
            "refseq_ac": "NP_068554",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-21",
                    "type": "recommended"
                },
                {
                    "name": "IL-21",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-21 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il21",
                    "type": "recommended"
                },
                {
                    "name": "IL-21",
                    "type": "synonym"
                },
                {
                    "name": "Il21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ES17-1",
            "evidence": [
                {
                    "id": "0081153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HBE4-1",
            "uniprot_ac": "Q9HBE4",
            "uniprot_id": "IL21_HUMAN",
            "refseq_ac": "NP_001193935",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-21",
                    "type": "recommended"
                },
                {
                    "name": "IL-21",
                    "type": "synonym"
                },
                {
                    "name": "Za11",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-21 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL21",
                    "type": "recommended"
                },
                {
                    "name": "CVID11",
                    "type": "synonym"
                },
                {
                    "name": "IL-21",
                    "type": "synonym"
                },
                {
                    "name": "IL21",
                    "type": "synonym"
                },
                {
                    "name": "Za11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HBE4-1",
            "evidence": [
                {
                    "id": "615767",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615767"
                },
                {
                    "id": "0081153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A3QPB9-1",
            "uniprot_ac": "A3QPB9",
            "uniprot_id": "IL21_RAT",
            "refseq_ac": "NP_001102413",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-21",
                    "type": "recommended"
                },
                {
                    "name": "IL-21",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-21 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il21",
                    "type": "recommended"
                },
                {
                    "name": "IL-21",
                    "type": "synonym"
                },
                {
                    "name": "Il21",
                    "type": "synonym"
                }
            ],
            "record_id": "A3QPB9-1",
            "evidence": [
                {
                    "id": "0081153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081153"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081153"
}