{
    "disease_id": "DOID:0081151",
    "recommended_name": {
        "id": "DOID:0081151",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081151",
        "name": "common variable immunodeficiency 8",
        "description": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31."
    },
    "synonyms": [
        {
            "id": "DOID:0081151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081151",
            "name": "common variable immunodeficiency-8 (CVID8) with autoimmunity",
            "description": ""
        },
        {
            "id": "MONDO:0013863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013863",
            "name": "combined immunodeficiency due to LRBA deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013863",
            "name": "CID due to LRBA deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013863",
            "name": "combined immunodeficiency due to LRBA deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013863",
            "name": "CVID8",
            "description": ""
        },
        {
            "id": "MONDO:0013863",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013863",
            "name": "immunodeficiency, common variable, 8, with autoimmunity",
            "description": ""
        },
        {
            "id": "MIM:614700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614700",
            "name": "Immunodeficiency, common variable, 8, with autoimmunity",
            "description": "Immunodeficiency, common variable, 8, with autoimmunity"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081151"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081151",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081151",
            "categories": []
        },
        {
            "id": "MONDO:0013863",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013863",
            "categories": []
        },
        {
            "id": "MIM:614700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AI36-1",
            "uniprot_ac": "A0A8M3AI36",
            "uniprot_id": "A0A8M3AI36_DANRE",
            "refseq_ac": "XP_009289523",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurobeachin",
                    "type": "recommended"
                },
                {
                    "name": "Lysosomal-trafficking regulator 2",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-responsive and beige-like anchor protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lrba",
                    "type": "recommended"
                },
                {
                    "name": "lrba",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AI36-1",
            "evidence": [
                {
                    "id": "0081151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESE1-1",
            "uniprot_ac": "Q9ESE1",
            "uniprot_id": "LRBA_MOUSE",
            "refseq_ac": "NP_001071155",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipopolysaccharide-responsive and beige-like anchor protein",
                    "type": "recommended"
                },
                {
                    "name": "Beige-like protein",
                    "type": "synonym"
                },
                {
                    "name": "beige-like protein",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-responsive and beige-like anchor protein isoform gamma",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-responsive and beige-like anchor protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrba",
                    "type": "recommended"
                },
                {
                    "name": "Bgl",
                    "type": "synonym"
                },
                {
                    "name": "D3Ertd775e",
                    "type": "synonym"
                },
                {
                    "name": "Lab300",
                    "type": "synonym"
                },
                {
                    "name": "Lba",
                    "type": "synonym"
                },
                {
                    "name": "Lrba",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESE1-1",
            "evidence": [
                {
                    "id": "0081151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50851-1",
            "uniprot_ac": "P50851",
            "uniprot_id": "LRBA_HUMAN",
            "refseq_ac": "NP_001186211",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipopolysaccharide-responsive and beige-like anchor protein",
                    "type": "recommended"
                },
                {
                    "name": "Beige-like protein",
                    "type": "synonym"
                },
                {
                    "name": "CDC4-like protein",
                    "type": "synonym"
                },
                {
                    "name": "LPS-responsive vesicle trafficking, beach and anchor containing",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-responsive and beige-like anchor protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-responsive and beige-like anchor protein",
                    "type": "synonym"
                },
                {
                    "name": "vesicle trafficking, beach and anchor containing",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRBA",
                    "type": "recommended"
                },
                {
                    "name": "BGL",
                    "type": "synonym"
                },
                {
                    "name": "CDC4L",
                    "type": "synonym"
                },
                {
                    "name": "CVID8",
                    "type": "synonym"
                },
                {
                    "name": "LAB300",
                    "type": "synonym"
                },
                {
                    "name": "LBA",
                    "type": "synonym"
                },
                {
                    "name": "LRBA",
                    "type": "synonym"
                },
                {
                    "name": "uc.147",
                    "type": "synonym"
                }
            ],
            "record_id": "P50851-1",
            "evidence": [
                {
                    "id": "614700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614700"
                },
                {
                    "id": "0081151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JYR4-1",
            "uniprot_ac": "A0A0G2JYR4",
            "uniprot_id": "A0A0G2JYR4_RAT",
            "refseq_ac": "XP_038958577",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipopolysaccharide-responsive and beige-like anchor protein",
                    "type": "recommended"
                },
                {
                    "name": "Beige-like protein",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide-responsive and beige-like anchor protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrba",
                    "type": "recommended"
                },
                {
                    "name": "Lrba",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JYR4-1",
            "evidence": [
                {
                    "id": "0081151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081151"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4E2-5",
            "uniprot_ac": "Q9W4E2",
            "uniprot_id": "NBEA_DROME",
            "refseq_ac": "NP_001138158",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurobeachin",
                    "type": "recommended"
                },
                {
                    "name": "A kinase anchor protein 550",
                    "type": "synonym"
                },
                {
                    "name": "A-kinase anchor protein 550",
                    "type": "synonym"
                },
                {
                    "name": "A-kinase anchoring protein",
                    "type": "synonym"
                },
                {
                    "name": "AKAP 550",
                    "type": "synonym"
                },
                {
                    "name": "CG44835-PN",
                    "type": "synonym"
                },
                {
                    "name": "Protein rugose",
                    "type": "synonym"
                },
                {
                    "name": "dAKAP550",
                    "type": "synonym"
                },
                {
                    "name": "drosophila A kinase anchor protein",
                    "type": "synonym"
                },
                {
                    "name": "facetious",
                    "type": "synonym"
                },
                {
                    "name": "pebbled",
                    "type": "synonym"
                },
                {
                    "name": "rg-PN",
                    "type": "synonym"
                },
                {
                    "name": "rugose, isoform N",
                    "type": "synonym"
                },
                {
                    "name": "rugose",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rg",
                    "type": "recommended"
                },
                {
                    "name": "AKAP",
                    "type": "synonym"
                },
                {
                    "name": "Akap550",
                    "type": "synonym"
                },
                {
                    "name": "CG15464",
                    "type": "synonym"
                },
                {
                    "name": "CG15466",
                    "type": "synonym"
                },
                {
                    "name": "CG44835",
                    "type": "synonym"
                },
                {
                    "name": "CG6775",
                    "type": "synonym"
                },
                {
                    "name": "DAKAP550",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44835",
                    "type": "synonym"
                },
                {
                    "name": "Rg",
                    "type": "synonym"
                },
                {
                    "name": "fas",
                    "type": "synonym"
                },
                {
                    "name": "rg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4E2-5",
            "evidence": [
                {
                    "id": "0081151",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081151"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081151"
}