{
    "disease_id": "DOID:0111957",
    "recommended_name": {
        "id": "DOID:0111957",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111957",
        "name": "immunodeficiency 11A",
        "description": "A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111957",
            "name": "severe combined immunodeficiency due to CARD11 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111957",
            "name": "CARD11 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111957",
            "name": "IMD11A",
            "description": ""
        },
        {
            "id": "DOID:0111957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111957",
            "name": "SCID due to CARD11 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "severe combined immunodeficiency due to CARD11 deficiency",
            "description": "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections."
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "immunodeficiency 11A",
            "description": ""
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "immunodeficiency type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "IMD11",
            "description": ""
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "IMD11A",
            "description": ""
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "immunodeficiency 11",
            "description": ""
        },
        {
            "id": "MIM:615206",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615206",
            "name": "Immunodeficiency 11 A",
            "description": "Immunodeficiency 11 A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111957"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111957",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111957",
            "categories": []
        },
        {
            "id": "MONDO:0014081",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "categories": []
        },
        {
            "id": "MIM:615206",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615206",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CIS0-1",
            "uniprot_ac": "Q8CIS0",
            "uniprot_id": "CAR11_MOUSE",
            "refseq_ac": "NP_780571",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caspase recruitment domain-containing protein 11",
                    "type": "recommended"
                },
                {
                    "name": "CARD-containing MAGUK protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Carma 1",
                    "type": "synonym"
                },
                {
                    "name": "carma 1",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain-containing protein 11 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Card11",
                    "type": "recommended"
                },
                {
                    "name": "0610008L17Rik",
                    "type": "synonym"
                },
                {
                    "name": "2410011D02Rik",
                    "type": "synonym"
                },
                {
                    "name": "BIMP3",
                    "type": "synonym"
                },
                {
                    "name": "CARMA1",
                    "type": "synonym"
                },
                {
                    "name": "Card11",
                    "type": "synonym"
                },
                {
                    "name": "Carma1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIS0-1",
            "evidence": [
                {
                    "id": "0111957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BXL7-1",
            "uniprot_ac": "Q9BXL7",
            "uniprot_id": "CAR11_HUMAN",
            "refseq_ac": "NP_001311210",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caspase recruitment domain-containing protein 11",
                    "type": "recommended"
                },
                {
                    "name": "CARD-containing MAGUK protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Carma 1",
                    "type": "synonym"
                },
                {
                    "name": "bcl10-interacting maguk protein 3",
                    "type": "synonym"
                },
                {
                    "name": "carma 1",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CARD11",
                    "type": "recommended"
                },
                {
                    "name": "BENTA",
                    "type": "synonym"
                },
                {
                    "name": "BIMP3",
                    "type": "synonym"
                },
                {
                    "name": "CARD11",
                    "type": "synonym"
                },
                {
                    "name": "CARMA1",
                    "type": "synonym"
                },
                {
                    "name": "IMD11A",
                    "type": "synonym"
                },
                {
                    "name": "IMD11",
                    "type": "synonym"
                },
                {
                    "name": "PPBL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BXL7-1",
            "evidence": [
                {
                    "id": "615206",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615206"
                },
                {
                    "id": "0111957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZNJ6-1",
            "uniprot_ac": "A0A8I5ZNJ6",
            "uniprot_id": "A0A8I5ZNJ6_RAT",
            "refseq_ac": "NP_001406792",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caspase recruitment domain-containing protein 11",
                    "type": "recommended"
                },
                {
                    "name": "CARD-containing MAGUK protein 1",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Card11",
                    "type": "recommended"
                },
                {
                    "name": "Card11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZNJ6-1",
            "evidence": [
                {
                    "id": "0111957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111957"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111957"
}