{
    "disease_id": "DOID:0111982",
    "recommended_name": {
        "id": "DOID:0111982",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111982",
        "name": "immunodeficiency 56",
        "description": "A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111982",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111982",
            "name": "IL21R immunodeficiency",
            "description": ""
        },
        {
            "id": "DOID:0111982",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111982",
            "name": "IMD56",
            "description": ""
        },
        {
            "id": "DOID:0111982",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111982",
            "name": "combined immunodeficiency due to IL21R deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014082",
            "name": "cryptosporidiosis-chronic cholangitis-liver disease syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014082",
            "name": "cryptosporidiosis-chronic cholangitis-liver disease syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014082",
            "name": "IMD56",
            "description": ""
        },
        {
            "id": "MIM:615207",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615207",
            "name": "Immunodeficiency 56",
            "description": "Immunodeficiency 56"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111982"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111982",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111982",
            "categories": []
        },
        {
            "id": "MONDO:0014082",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014082",
            "categories": []
        },
        {
            "id": "MIM:615207",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615207",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "X1WC58-1",
            "uniprot_ac": "X1WC58",
            "uniprot_id": "X1WC58_DANRE",
            "refseq_ac": "NP_001106982",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin 21 receptor, tandem duplicate 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 21 receptor alpha.a",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 21 receptor, tandem duplicate 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "il21r.1",
                    "type": "recommended"
                },
                {
                    "name": "il-21ra.a",
                    "type": "synonym"
                },
                {
                    "name": "il21r.1",
                    "type": "synonym"
                },
                {
                    "name": "il21r",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WC58-1",
            "evidence": [
                {
                    "id": "0111982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JHX3-1",
            "uniprot_ac": "Q9JHX3",
            "uniprot_id": "IL21R_MOUSE",
            "refseq_ac": "NP_068687",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-21 receptor",
                    "type": "recommended"
                },
                {
                    "name": "IL-21 receptor",
                    "type": "synonym"
                },
                {
                    "name": "IL-21R",
                    "type": "synonym"
                },
                {
                    "name": "LR-beta",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "NR8",
                    "type": "synonym"
                },
                {
                    "name": "Novel cytokine receptor 8",
                    "type": "synonym"
                },
                {
                    "name": "Novel interleukin receptor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-21 receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "novel cytokine receptor 8",
                    "type": "synonym"
                },
                {
                    "name": "novel interleukin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il21r",
                    "type": "recommended"
                },
                {
                    "name": "Il21r",
                    "type": "synonym"
                },
                {
                    "name": "NILR",
                    "type": "synonym"
                },
                {
                    "name": "Nilr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHX3-1",
            "evidence": [
                {
                    "id": "0111982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HBE5-1",
            "uniprot_ac": "Q9HBE5",
            "uniprot_id": "IL21R_HUMAN",
            "refseq_ac": "NP_068570",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-21 receptor",
                    "type": "recommended"
                },
                {
                    "name": "IL-21 receptor",
                    "type": "synonym"
                },
                {
                    "name": "IL-21R",
                    "type": "synonym"
                },
                {
                    "name": "Novel interleukin receptor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-21 receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "novel interleukin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL21R",
                    "type": "recommended"
                },
                {
                    "name": "CD360",
                    "type": "synonym"
                },
                {
                    "name": "IL21R",
                    "type": "synonym"
                },
                {
                    "name": "IMD56",
                    "type": "synonym"
                },
                {
                    "name": "NILR",
                    "type": "synonym"
                },
                {
                    "name": "PRO10273",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HBE5-1",
            "evidence": [
                {
                    "id": "615207",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615207"
                },
                {
                    "id": "0111982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ASZ0-1",
            "uniprot_ac": "A0A8I6ASZ0",
            "uniprot_id": "A0A8I6ASZ0_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": "Interleukin 21 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il21r",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6ASZ0-1",
            "evidence": [
                {
                    "id": "0111982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111982"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111982"
}