{
    "disease_id": "DOID:0061055",
    "recommended_name": {
        "id": "DOID:0061055",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061055",
        "name": "immunodeficiency 85",
        "description": "A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "DOID:0061055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061055",
            "name": "immunodeficiency 85 and autoimmunity",
            "description": ""
        },
        {
            "id": "MONDO:0030428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030428",
            "name": "immunodeficiency 85 and autoimmunity",
            "description": ""
        },
        {
            "id": "MONDO:0030428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030428",
            "name": "IMD85",
            "description": ""
        },
        {
            "id": "MIM:619510",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619510",
            "name": "Immunodeficiency 85",
            "description": "Immunodeficiency 85"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061055"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061055",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061055",
            "categories": []
        },
        {
            "id": "MONDO:0030428",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030428",
            "categories": []
        },
        {
            "id": "MIM:619510",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619510",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IY33-1",
            "uniprot_ac": "A0A0R4IY33",
            "uniprot_id": "A0A0R4IY33_DANRE",
            "refseq_ac": "NP_001338580",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Target of Myb1 membrane trafficking protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "target of Myb1 membrane trafficking protein isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tom1",
                    "type": "recommended"
                },
                {
                    "name": "Tom1l2",
                    "type": "synonym"
                },
                {
                    "name": "tom1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IY33-1",
            "evidence": [
                {
                    "id": "0061055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88746-1",
            "uniprot_ac": "O88746",
            "uniprot_id": "TOM1_MOUSE",
            "refseq_ac": "NP_035752",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Target of Myb1 membrane trafficking protein",
                    "type": "recommended"
                },
                {
                    "name": "Target of Myb protein 1",
                    "type": "synonym"
                },
                {
                    "name": "target of Myb protein 1",
                    "type": "synonym"
                },
                {
                    "name": "target of Myb1 membrane trafficking protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "target of Myb1 membrane trafficking protein",
                    "type": "synonym"
                },
                {
                    "name": "target of myb1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tom1",
                    "type": "recommended"
                },
                {
                    "name": "Tom1",
                    "type": "synonym"
                }
            ],
            "record_id": "O88746-1",
            "evidence": [
                {
                    "id": "0061055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60784-1",
            "uniprot_ac": "O60784",
            "uniprot_id": "TOM1_HUMAN",
            "refseq_ac": "NP_001129201",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Target of Myb1 membrane trafficking protein",
                    "type": "recommended"
                },
                {
                    "name": "Target of Myb protein 1",
                    "type": "synonym"
                },
                {
                    "name": "target of Myb protein 1",
                    "type": "synonym"
                },
                {
                    "name": "target of Myb1 membrane trafficking protein isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "target of myb 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TOM1",
                    "type": "recommended"
                },
                {
                    "name": "IMD85",
                    "type": "synonym"
                },
                {
                    "name": "TOM1",
                    "type": "synonym"
                }
            ],
            "record_id": "O60784-1",
            "evidence": [
                {
                    "id": "619510",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619510"
                },
                {
                    "id": "0061055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38817-1",
            "uniprot_ac": "P38817",
            "uniprot_id": "GGA2_YEAST",
            "refseq_ac": "NP_011976",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-binding protein GGA2",
                    "type": "recommended"
                },
                {
                    "name": "Golgi-localized, gamma ear-containing, ARF-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-phosphate-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GGA2",
                    "type": "recommended"
                },
                {
                    "name": "GGA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P38817-1",
            "evidence": [
                {
                    "id": "0061055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSZ1-1",
            "uniprot_ac": "Q9VSZ1",
            "uniprot_id": "Q9VSZ1_DROME",
            "refseq_ac": "NP_648315",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "TOM1-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CG3529-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DmTOM1",
                    "type": "recommended"
                },
                {
                    "name": "CG3529",
                    "type": "synonym"
                },
                {
                    "name": "DmTOM1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3529",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3529",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSZ1-1",
            "evidence": [
                {
                    "id": "0061055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061055"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061055"
}