{
    "disease_id": "DOID:0111968",
    "recommended_name": {
        "id": "DOID:0111968",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111968",
        "name": "immunodeficiency 41",
        "description": "A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111968",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111968",
            "name": "CD25 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111968",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111968",
            "name": "IL2RA deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111968",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111968",
            "name": "IMD41",
            "description": ""
        },
        {
            "id": "DOID:0111968",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111968",
            "name": "immunodeficiency due to CD25 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111968",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111968",
            "name": "interleukin-2 receptor alpha chain deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111968",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111968",
            "name": "immunodeficiency 41 with lymphoproliferation and autoimmunity",
            "description": ""
        },
        {
            "id": "MONDO:0011664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011664",
            "name": "immunodeficiency due to CD25 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011664",
            "name": "Interleukin-2 receptor alpha chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011664",
            "name": "immunodeficiency due to CD25 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011664",
            "name": "IMD41",
            "description": ""
        },
        {
            "id": "MONDO:0011664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011664",
            "name": "immunodeficiency 41 with lymphoproliferation and autoimmunity",
            "description": ""
        },
        {
            "id": "MIM:606367",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606367",
            "name": "Immunodeficiency 41 with lymphoproliferation and autoimmunity",
            "description": "Immunodeficiency 41 with lymphoproliferation and autoimmunity"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111968"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111968",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111968",
            "categories": []
        },
        {
            "id": "MONDO:0011664",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011664",
            "categories": []
        },
        {
            "id": "MIM:606367",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606367",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P01590-1",
            "uniprot_ac": "P01590",
            "uniprot_id": "IL2RA_MOUSE",
            "refseq_ac": "NP_032393",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-2 receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "IL-2 receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-2-RA",
                    "type": "synonym"
                },
                {
                    "name": "IL-2R alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "IL-2R subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL2-RA",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2 receptor subunit alpha precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2 receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "p55 chain",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il2ra",
                    "type": "recommended"
                },
                {
                    "name": "CD25",
                    "type": "synonym"
                },
                {
                    "name": "Il2ra",
                    "type": "synonym"
                },
                {
                    "name": "Il2r",
                    "type": "synonym"
                },
                {
                    "name": "Ly-43",
                    "type": "synonym"
                }
            ],
            "record_id": "P01590-1",
            "evidence": [
                {
                    "id": "0111968",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111968"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01589-1",
            "uniprot_ac": "P01589",
            "uniprot_id": "IL2RA_HUMAN",
            "refseq_ac": "NP_000408",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-2 receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "IL-2 receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-2-RA",
                    "type": "synonym"
                },
                {
                    "name": "IL-2R subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL2-RA",
                    "type": "synonym"
                },
                {
                    "name": "TAC antigen",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 2 receptor, alpha",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2 receptor subunit alpha isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL2RA",
                    "type": "recommended"
                },
                {
                    "name": "CD25",
                    "type": "synonym"
                },
                {
                    "name": "IDDM10",
                    "type": "synonym"
                },
                {
                    "name": "IL2RA",
                    "type": "synonym"
                },
                {
                    "name": "IL2R",
                    "type": "synonym"
                },
                {
                    "name": "IMD41",
                    "type": "synonym"
                },
                {
                    "name": "TCGFR",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                }
            ],
            "record_id": "P01589-1",
            "evidence": [
                {
                    "id": "606367",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606367"
                },
                {
                    "id": "0111968",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111968"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26897-1",
            "uniprot_ac": "P26897",
            "uniprot_id": "IL2RA_RAT",
            "refseq_ac": "NP_037295",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-2 receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "IL-2 receptor alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "IL-2 receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL-2-RA",
                    "type": "synonym"
                },
                {
                    "name": "IL-2R subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "IL2-RA",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 2 receptor, alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2 receptor subunit alpha precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il2ra",
                    "type": "recommended"
                },
                {
                    "name": "IL2RAC",
                    "type": "synonym"
                },
                {
                    "name": "Il2ra",
                    "type": "synonym"
                }
            ],
            "record_id": "P26897-1",
            "evidence": [
                {
                    "id": "0111968",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111968"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UNE0-1",
            "uniprot_ac": "Q9UNE0",
            "uniprot_id": "EDAR_HUMAN",
            "refseq_ac": "NP_071731",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member EDAR",
                    "type": "recommended"
                },
                {
                    "name": "Anhidrotic ectodysplasin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Downless homolog",
                    "type": "synonym"
                },
                {
                    "name": "EDA-A1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Ectodermal dysplasia receptor",
                    "type": "synonym"
                },
                {
                    "name": "Ectodysplasin-A receptor",
                    "type": "synonym"
                },
                {
                    "name": "anhidrotic ectodysplasin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "downless homolog",
                    "type": "synonym"
                },
                {
                    "name": "downless, mouse, homolog of",
                    "type": "synonym"
                },
                {
                    "name": "ectodermal dysplasia receptor",
                    "type": "synonym"
                },
                {
                    "name": "ectodysplasin 1, anhidrotic receptor",
                    "type": "synonym"
                },
                {
                    "name": "ectodysplasin A1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "hypohidrotic ectodermal dysplasia",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member EDAR precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member EDAR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EDAR",
                    "type": "recommended"
                },
                {
                    "name": "DL",
                    "type": "synonym"
                },
                {
                    "name": "ECTD10A",
                    "type": "synonym"
                },
                {
                    "name": "ECTD10B",
                    "type": "synonym"
                },
                {
                    "name": "ED1R",
                    "type": "synonym"
                },
                {
                    "name": "ED3",
                    "type": "synonym"
                },
                {
                    "name": "ED5",
                    "type": "synonym"
                },
                {
                    "name": "EDA-A1R",
                    "type": "synonym"
                },
                {
                    "name": "EDA1R",
                    "type": "synonym"
                },
                {
                    "name": "EDA3",
                    "type": "synonym"
                },
                {
                    "name": "EDAR",
                    "type": "synonym"
                },
                {
                    "name": "HRM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UNE0-1",
            "evidence": [
                {
                    "id": "0111968",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111968"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111968"
}