{
    "disease_id": "DOID:0061162",
    "recommended_name": {
        "id": "DOID:0061162",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061162",
        "name": "infantile onset multisystem autoimmune disease 3",
        "description": "An infantile onset multisystem autoimmune disease characterized by the onset of various systemic autoimmune manifestations in the first months or years of life that has_material_basis_in homozygous mutation in the CBLB gene on chromosome 3q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0957388",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957388",
            "name": "autoimmune disease, multisystem, infantile-onset, 3",
            "description": ""
        },
        {
            "id": "MIM:620430",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620430",
            "name": "Autoimmune disease, multisystem, infantile-onset, 3",
            "description": "Autoimmune disease, multisystem, infantile-onset, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061162"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061162",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061162",
            "categories": []
        },
        {
            "id": "MONDO:0957388",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957388",
            "categories": []
        },
        {
            "id": "MIM:620430",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620430",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3TTA7-1",
            "uniprot_ac": "Q3TTA7",
            "uniprot_id": "CBLB_MOUSE",
            "refseq_ac": "NP_001028410",
            "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 CBL-B",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Casitas B-lineage lymphoma b",
                    "type": "synonym"
                },
                {
                    "name": "Casitas B-lineage lymphoma proto-oncogene b",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase CBL-B",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase CBL-B",
                    "type": "synonym"
                },
                {
                    "name": "SH3-binding protein CBL-B",
                    "type": "synonym"
                },
                {
                    "name": "Signal transduction protein CBL-B",
                    "type": "synonym"
                },
                {
                    "name": "casitas B-lineage lymphoma proto-oncogene b",
                    "type": "synonym"
                },
                {
                    "name": "signal transduction protein CBL-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cblb",
                    "type": "recommended"
                },
                {
                    "name": "Cbl-b",
                    "type": "synonym"
                },
                {
                    "name": "Cblb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TTA7-1",
            "evidence": [
                {
                    "id": "0061162",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061162"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13191-1",
            "uniprot_ac": "Q13191",
            "uniprot_id": "CBLB_HUMAN",
            "refseq_ac": "NP_001308717",
            "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 CBL-B",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Cas-Br-M (murine) ecotropic retroviral transforming sequence b",
                    "type": "synonym"
                },
                {
                    "name": "Casitas B-lineage lymphoma proto-oncogene b",
                    "type": "synonym"
                },
                {
                    "name": "Cbl proto-oncogene B, E3 ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "Cbl proto-oncogene, E3 ubiquitin protein ligase B",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase CBL-B isoform b",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase CBL-B",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 56",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase CBL-B",
                    "type": "synonym"
                },
                {
                    "name": "SH3-binding protein CBL-B",
                    "type": "synonym"
                },
                {
                    "name": "Signal transduction protein CBL-B",
                    "type": "synonym"
                },
                {
                    "name": "casitas B-lineage lymphoma proto-oncogene b",
                    "type": "synonym"
                },
                {
                    "name": "signal transduction protein CBL-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CBLB",
                    "type": "recommended"
                },
                {
                    "name": "ADMIO3",
                    "type": "synonym"
                },
                {
                    "name": "CBLB",
                    "type": "synonym"
                },
                {
                    "name": "Cbl-b",
                    "type": "synonym"
                },
                {
                    "name": "Nbla00127",
                    "type": "synonym"
                },
                {
                    "name": "RNF56",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13191-1",
            "evidence": [
                {
                    "id": "620430",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620430"
                },
                {
                    "id": "0061162",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061162"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4S7-1",
            "uniprot_ac": "Q8K4S7",
            "uniprot_id": "CBLB_RAT",
            "refseq_ac": "NP_598285",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase CBL-B",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Cas-Br-M (murine) ecotropic retroviral transforming sequence b",
                    "type": "synonym"
                },
                {
                    "name": "Casitas B-lineage lymphoma b",
                    "type": "synonym"
                },
                {
                    "name": "Casitas B-lineage lymphoma proto-oncogene b",
                    "type": "synonym"
                },
                {
                    "name": "Cbl proto-oncogene B, E3 ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "Cbl proto-oncogene, E3 ubiquitin protein ligase B",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase CBL-B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase CBL-B",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase CBL-B",
                    "type": "synonym"
                },
                {
                    "name": "SH3-binding protein CBL-B",
                    "type": "synonym"
                },
                {
                    "name": "Signal transduction protein CBL-B",
                    "type": "synonym"
                },
                {
                    "name": "casitas B-lineage lymphoma proto-oncogene b",
                    "type": "synonym"
                },
                {
                    "name": "signal transduction protein CBL-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cblb",
                    "type": "recommended"
                },
                {
                    "name": "Cblb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4S7-1",
            "evidence": [
                {
                    "id": "0061162",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061162"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSK2-1",
            "uniprot_ac": "Q9VSK2",
            "uniprot_id": "Q9VSK2_DROME",
            "refseq_ac": "NP_648224",
            "glycoprotein": "no",
            "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 CBL",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CG7037-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cbl proto-oncogene ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Cbl proto-oncogene, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Cbl-PB",
                    "type": "synonym"
                },
                {
                    "name": "D-cblLONG",
                    "type": "synonym"
                },
                {
                    "name": "D-cblSHORT",
                    "type": "synonym"
                },
                {
                    "name": "cable",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cbl",
                    "type": "recommended"
                },
                {
                    "name": "CBL",
                    "type": "synonym"
                },
                {
                    "name": "CG7037",
                    "type": "synonym"
                },
                {
                    "name": "CG7043",
                    "type": "synonym"
                },
                {
                    "name": "Cbl",
                    "type": "synonym"
                },
                {
                    "name": "D-Cbl L",
                    "type": "synonym"
                },
                {
                    "name": "D-CblL",
                    "type": "synonym"
                },
                {
                    "name": "D-Cbl",
                    "type": "synonym"
                },
                {
                    "name": "D-cblL",
                    "type": "synonym"
                },
                {
                    "name": "D-cblS",
                    "type": "synonym"
                },
                {
                    "name": "D-cbl",
                    "type": "synonym"
                },
                {
                    "name": "DCbl",
                    "type": "synonym"
                },
                {
                    "name": "Dcbl",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7037",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7037",
                    "type": "synonym"
                },
                {
                    "name": "Dv-Cbl",
                    "type": "synonym"
                },
                {
                    "name": "Dv-cbl",
                    "type": "synonym"
                },
                {
                    "name": "F165",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.68",
                    "type": "synonym"
                },
                {
                    "name": "cbl",
                    "type": "synonym"
                },
                {
                    "name": "d-cbl",
                    "type": "synonym"
                },
                {
                    "name": "dCbl",
                    "type": "synonym"
                },
                {
                    "name": "v-Cbl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSK2-1",
            "evidence": [
                {
                    "id": "0061162",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061162"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061162"
}