{
    "disease_id": "DOID:0111952",
    "recommended_name": {
        "id": "DOID:0111952",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111952",
        "name": "immunodeficiency 57",
        "description": "A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111952",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111952",
            "name": "IMD57",
            "description": ""
        },
        {
            "id": "DOID:0111952",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111952",
            "name": "immunodeficiency 57 with autoinflammation",
            "description": ""
        },
        {
            "id": "DOID:0111952",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111952",
            "name": "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020849",
            "name": "immunodeficiency 57",
            "description": ""
        },
        {
            "id": "MONDO:0020849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020849",
            "name": "IMD57",
            "description": ""
        },
        {
            "id": "MONDO:0020849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020849",
            "name": "immunodeficiency 57 with autoinflammation",
            "description": ""
        },
        {
            "id": "MIM:618108",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618108",
            "name": "Immunodeficiency 57 with autoinflammation",
            "description": "Immunodeficiency 57 with autoinflammation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111952"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111952",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111952",
            "categories": []
        },
        {
            "id": "MONDO:0020849",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020849",
            "categories": []
        },
        {
            "id": "MIM:618108",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618108",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q60855-1",
            "uniprot_ac": "Q60855",
            "uniprot_id": "RIPK1_MOUSE",
            "refseq_ac": "NP_033094",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Cell death protein RIP",
                    "type": "synonym"
                },
                {
                    "name": "RIP-1",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cell death protein RIP",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase RIP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ripk1",
                    "type": "recommended"
                },
                {
                    "name": "D330015H01Rik",
                    "type": "synonym"
                },
                {
                    "name": "RIP-1",
                    "type": "synonym"
                },
                {
                    "name": "RIP",
                    "type": "synonym"
                },
                {
                    "name": "Rinp",
                    "type": "synonym"
                },
                {
                    "name": "Rip1",
                    "type": "synonym"
                },
                {
                    "name": "Ripk1",
                    "type": "synonym"
                },
                {
                    "name": "Rip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60855-1",
            "evidence": [
                {
                    "id": "0111952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13546-1",
            "uniprot_ac": "Q13546",
            "uniprot_id": "RIPK1_HUMAN",
            "refseq_ac": "NP_003795",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Cell death protein RIP",
                    "type": "synonym"
                },
                {
                    "name": "RIP-1",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cell death protein RIP",
                    "type": "synonym"
                },
                {
                    "name": "receptor (TNFRSF)-interacting serine-threonine kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase RIP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RIPK1",
                    "type": "recommended"
                },
                {
                    "name": "AIEFL",
                    "type": "synonym"
                },
                {
                    "name": "IMD57",
                    "type": "synonym"
                },
                {
                    "name": "RIP-1",
                    "type": "synonym"
                },
                {
                    "name": "RIP1",
                    "type": "synonym"
                },
                {
                    "name": "RIPK1",
                    "type": "synonym"
                },
                {
                    "name": "RIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13546-1",
            "evidence": [
                {
                    "id": "618108",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618108"
                },
                {
                    "id": "0111952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZYL0-1",
            "uniprot_ac": "D3ZYL0",
            "uniprot_id": "D3ZYL0_RAT",
            "refseq_ac": "NP_001100820",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor-interacting serine/threonine-protein kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Cell death protein RIP",
                    "type": "synonym"
                },
                {
                    "name": "RIP",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor (TNFRSF)-interacting serine-threonine kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor-interacting serine/threonine-protein kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ripk1",
                    "type": "recommended"
                },
                {
                    "name": "Ripk1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZYL0-1",
            "evidence": [
                {
                    "id": "0111952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111952"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111952"
}