{
    "disease_id": "DOID:0061081",
    "recommended_name": {
        "id": "DOID:0061081",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061081",
        "name": "immunodeficiency 115",
        "description": "A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11."
    },
    "synonyms": [
        {
            "id": "DOID:0061081",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061081",
            "name": "immunodeficiency 115 with autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0957981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957981",
            "name": "immunodeficiency 115 with autoinflammation",
            "description": ""
        },
        {
            "id": "MIM:620632",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620632",
            "name": "Immunodeficiency 115 with autoinflammation",
            "description": "Immunodeficiency 115 with autoinflammation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061081"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061081",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061081",
            "categories": []
        },
        {
            "id": "MONDO:0957981",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957981",
            "categories": []
        },
        {
            "id": "MIM:620632",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620632",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q924T7-1",
            "uniprot_ac": "Q924T7",
            "uniprot_id": "RNF31_MOUSE",
            "refseq_ac": "NP_919327",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF31",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.31",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF31",
                    "type": "synonym"
                },
                {
                    "name": "HOIL-1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "HOIP",
                    "type": "synonym"
                },
                {
                    "name": "PAUL",
                    "type": "synonym"
                },
                {
                    "name": "Putative Ariadne-like ubiquitin ligase",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 31",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF31",
                    "type": "synonym"
                },
                {
                    "name": "putative Ariadne-like ubiquitin ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf31",
                    "type": "recommended"
                },
                {
                    "name": "Flj10111",
                    "type": "synonym"
                },
                {
                    "name": "HOIP",
                    "type": "synonym"
                },
                {
                    "name": "Paul",
                    "type": "synonym"
                },
                {
                    "name": "Rnf31",
                    "type": "synonym"
                },
                {
                    "name": "mFLJ00217",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924T7-1",
            "evidence": [
                {
                    "id": "0061081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96EP0-1",
            "uniprot_ac": "Q96EP0",
            "uniprot_id": "RNF31_HUMAN",
            "refseq_ac": "NP_001297261",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF31",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.31",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF31 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF31",
                    "type": "synonym"
                },
                {
                    "name": "HOIL-1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "HOIP",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 31",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF31",
                    "type": "synonym"
                },
                {
                    "name": "Zinc in-between-RING-finger ubiquitin-associated domain protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc in-between-RING-finger ubiquitin-associated domain protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNF31",
                    "type": "recommended"
                },
                {
                    "name": "HOIP",
                    "type": "synonym"
                },
                {
                    "name": "IMD115",
                    "type": "synonym"
                },
                {
                    "name": "Paul",
                    "type": "synonym"
                },
                {
                    "name": "RNF31",
                    "type": "synonym"
                },
                {
                    "name": "ZIBRA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96EP0-1",
            "evidence": [
                {
                    "id": "620632",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620632"
                },
                {
                    "id": "0061081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PU29-1",
            "uniprot_ac": "E9PU29",
            "uniprot_id": "E9PU29_RAT",
            "refseq_ac": "NP_001102338",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RBR-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.31",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF31",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf31",
                    "type": "recommended"
                },
                {
                    "name": "Rnf31",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PU29-1",
            "evidence": [
                {
                    "id": "0061081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061081"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPJ3-1",
            "uniprot_ac": "Q8IPJ3",
            "uniprot_id": "LUBEL_DROME",
            "refseq_ac": "NP_001260156",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase lubel",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.31",
                    "type": "synonym"
                },
                {
                    "name": "CG11321-PF",
                    "type": "synonym"
                },
                {
                    "name": "LUBEL-PF",
                    "type": "synonym"
                },
                {
                    "name": "Linear Ubiquitin E3 ligase",
                    "type": "synonym"
                },
                {
                    "name": "linear ubiquitin E3 ligase, isoform F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LUBEL",
                    "type": "recommended"
                },
                {
                    "name": "AAF52435.2",
                    "type": "synonym"
                },
                {
                    "name": "CG11321",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11321",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11321",
                    "type": "synonym"
                },
                {
                    "name": "LUBEL",
                    "type": "synonym"
                },
                {
                    "name": "Lubel",
                    "type": "synonym"
                },
                {
                    "name": "lubel",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPJ3-1",
            "evidence": [
                {
                    "id": "0061081",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061081"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061081"
}