{
    "disease_id": "DOID:0061059",
    "recommended_name": {
        "id": "DOID:0061059",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061059",
        "name": "immunodeficiency 89",
        "description": "A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "DOID:0061059",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061059",
            "name": "immunodeficiency 89 and autoimmunity",
            "description": ""
        },
        {
            "id": "MONDO:0030484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030484",
            "name": "immunodeficiency 89 and autoimmunity",
            "description": ""
        },
        {
            "id": "MONDO:0030484",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030484",
            "name": "IMD89",
            "description": ""
        },
        {
            "id": "MIM:619632",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619632",
            "name": "Immunodeficiency 89 and autoimmunity",
            "description": "Immunodeficiency 89 and autoimmunity"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061059"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061059",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061059",
            "categories": []
        },
        {
            "id": "MONDO:0030484",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030484",
            "categories": []
        },
        {
            "id": "MIM:619632",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619632",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P58660-1",
            "uniprot_ac": "P58660",
            "uniprot_id": "CAR10_MOUSE",
            "refseq_ac": "NP_570929",
            "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 10",
                    "type": "recommended"
                },
                {
                    "name": "Bcl10-interacting MAGUK protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Bimp1",
                    "type": "synonym"
                },
                {
                    "name": "bcl10-interacting MAGUK protein 1",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain-containing protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Card10",
                    "type": "recommended"
                },
                {
                    "name": "Bimp1",
                    "type": "synonym"
                },
                {
                    "name": "Card10",
                    "type": "synonym"
                },
                {
                    "name": "Carma3",
                    "type": "synonym"
                }
            ],
            "record_id": "P58660-1",
            "evidence": [
                {
                    "id": "0061059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BWT7-1",
            "uniprot_ac": "Q9BWT7",
            "uniprot_id": "CAR10_HUMAN",
            "refseq_ac": "NP_055365",
            "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 10",
                    "type": "recommended"
                },
                {
                    "name": "Bcl10 binding protein and activator of NFKB",
                    "type": "synonym"
                },
                {
                    "name": "CARD-containing MAGUK 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "CARD-containing MAGUK protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Carma 3",
                    "type": "synonym"
                },
                {
                    "name": "carma 3",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain-containing protein 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CARD10",
                    "type": "recommended"
                },
                {
                    "name": "BIMP1",
                    "type": "synonym"
                },
                {
                    "name": "CARD10",
                    "type": "synonym"
                },
                {
                    "name": "CARMA3",
                    "type": "synonym"
                },
                {
                    "name": "IMD89",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BWT7-1",
            "evidence": [
                {
                    "id": "619632",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619632"
                },
                {
                    "id": "0061059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A425-1",
            "uniprot_ac": "D4A425",
            "uniprot_id": "D4A425_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": "Caspase recruitment domain-containing protein 10",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Card10",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A425-1",
            "evidence": [
                {
                    "id": "0061059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061059"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061059"
}