{
    "disease_id": "DOID:0112154",
    "recommended_name": {
        "id": "DOID:0112154",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112154",
        "name": "inflammatory bowel disease 30",
        "description": "An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33."
    },
    "synonyms": [
        {
            "id": "DOID:0112154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112154",
            "name": "IBD30",
            "description": ""
        },
        {
            "id": "DOID:0112154",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112154",
            "name": "inflammatory bowel disease (Crohn disease) 30",
            "description": ""
        },
        {
            "id": "MONDO:0033643",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033643",
            "name": "inflammatory bowel disease 30",
            "description": "An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has material basis in heterozygous mutation in the CARD8 gene on chromosome 19q13.33."
        },
        {
            "id": "MONDO:0033643",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033643",
            "name": "IBD30",
            "description": ""
        },
        {
            "id": "MONDO:0033643",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033643",
            "name": "inflammatory bowel disease (Crohn disease) 30",
            "description": ""
        },
        {
            "id": "MIM:619079",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619079",
            "name": "Inflammatory bowel disease 30",
            "description": "Inflammatory bowel disease 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112154"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112154",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112154",
            "categories": []
        },
        {
            "id": "MONDO:0033643",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033643",
            "categories": []
        },
        {
            "id": "MIM:619079",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619079",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Y2G2-5",
            "uniprot_ac": "Q9Y2G2",
            "uniprot_id": "CARD8_HUMAN",
            "refseq_ac": "NP_001171833",
            "glycoprotein": "no",
            "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 8",
                    "type": "recommended"
                },
                {
                    "name": "3.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CARD inhibitor of NF-kappaB-activating ligands",
                    "type": "synonym"
                },
                {
                    "name": "CARD-inhibitor of NF-kappa-B-activating ligand",
                    "type": "synonym"
                },
                {
                    "name": "CARDINAL",
                    "type": "synonym"
                },
                {
                    "name": "TUCAN",
                    "type": "synonym"
                },
                {
                    "name": "Tumor up-regulated CARD-containing antagonist of CASP9",
                    "type": "synonym"
                },
                {
                    "name": "apoptotic protein NDPP1",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain-containing protein 8 isoform d",
                    "type": "synonym"
                },
                {
                    "name": "tumor up-regulated CARD-containing antagonist of CASP9",
                    "type": "synonym"
                },
                {
                    "name": "tumor up-regulated CARD-containing antagonist of caspase nine",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CARD8",
                    "type": "recommended"
                },
                {
                    "name": "CARD8",
                    "type": "synonym"
                },
                {
                    "name": "CARDINAL",
                    "type": "synonym"
                },
                {
                    "name": "DACAR",
                    "type": "synonym"
                },
                {
                    "name": "DAKAR",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0955",
                    "type": "synonym"
                },
                {
                    "name": "NDPP1",
                    "type": "synonym"
                },
                {
                    "name": "NDPP",
                    "type": "synonym"
                },
                {
                    "name": "TUCAN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2G2-5",
            "evidence": [
                {
                    "id": "619079",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619079"
                },
                {
                    "id": "0112154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112154"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112154"
}