{
    "disease_id": "DOID:0111974",
    "recommended_name": {
        "id": "DOID:0111974",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111974",
        "name": "immunodeficiency 59",
        "description": "A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111974",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111974",
            "name": "IMD59",
            "description": ""
        },
        {
            "id": "DOID:0111974",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111974",
            "name": "granulocytopenia with immunoglobin abnormality",
            "description": ""
        },
        {
            "id": "DOID:0111974",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111974",
            "name": "immunodeficiency 59 and hypoglycemia",
            "description": ""
        },
        {
            "id": "MONDO:0009305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009305",
            "name": "granulocytopenia with immunoglobulin abnormality",
            "description": ""
        },
        {
            "id": "MONDO:0009305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009305",
            "name": "granulocytopenia with immunoglobulin abnormality",
            "description": ""
        },
        {
            "id": "MONDO:0009305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009305",
            "name": "immunodeficiency 59 and hypoglycemia",
            "description": ""
        },
        {
            "id": "MIM:233600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/233600",
            "name": "Immunodeficiency 59 and hypoglycemia",
            "description": "Immunodeficiency 59 and hypoglycemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111974"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111974",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111974",
            "categories": []
        },
        {
            "id": "MONDO:0009305",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009305",
            "categories": []
        },
        {
            "id": "MIM:233600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/233600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZUW2-1",
            "uniprot_ac": "Q7ZUW2",
            "uniprot_id": "HYOU1_DANRE",
            "refseq_ac": "NP_997868",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hypoxia up-regulated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "hypoxia up-regulated protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia up-regulated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "oxygen regulated protein (150kD)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hyou1",
                    "type": "recommended"
                },
                {
                    "name": "hsph4",
                    "type": "synonym"
                },
                {
                    "name": "hyou1",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5056",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd14c05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56019",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZUW2-1",
            "evidence": [
                {
                    "id": "0111974",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111974"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKR6-1",
            "uniprot_ac": "Q9JKR6",
            "uniprot_id": "HYOU1_MOUSE",
            "refseq_ac": "NP_067370",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hypoxia up-regulated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "140 kDa Ca(2+)-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "150-kDa oxygen regulated protein",
                    "type": "synonym"
                },
                {
                    "name": "170 kDa glucose regulated protein GRP170",
                    "type": "synonym"
                },
                {
                    "name": "CBP-140",
                    "type": "synonym"
                },
                {
                    "name": "GRP-170",
                    "type": "synonym"
                },
                {
                    "name": "calcium binding protein 140",
                    "type": "synonym"
                },
                {
                    "name": "calcium binding protein, 140 kDa",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia up-regulated protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia up-regulated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hyou1",
                    "type": "recommended"
                },
                {
                    "name": "CBP-140",
                    "type": "synonym"
                },
                {
                    "name": "Cab140",
                    "type": "synonym"
                },
                {
                    "name": "Grp170",
                    "type": "synonym"
                },
                {
                    "name": "Hsph4",
                    "type": "synonym"
                },
                {
                    "name": "Hyou1",
                    "type": "synonym"
                },
                {
                    "name": "Orp150",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKR6-1",
            "evidence": [
                {
                    "id": "0111974",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111974"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y4L1-1",
            "uniprot_ac": "Q9Y4L1",
            "uniprot_id": "HYOU1_HUMAN",
            "refseq_ac": "NP_001124463",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hypoxia up-regulated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "150 kDa oxygen-regulated protein",
                    "type": "synonym"
                },
                {
                    "name": "170 kDa glucose-regulated protein",
                    "type": "synonym"
                },
                {
                    "name": "GRP-170",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein family H member 4",
                    "type": "synonym"
                },
                {
                    "name": "ORP-150",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein family H member 4",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia up-regulated protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia up-regulated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "oxygen regulated protein (150kD)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HYOU1",
                    "type": "recommended"
                },
                {
                    "name": "GRP-170",
                    "type": "synonym"
                },
                {
                    "name": "GRP170",
                    "type": "synonym"
                },
                {
                    "name": "Grp170",
                    "type": "synonym"
                },
                {
                    "name": "HSP12A",
                    "type": "synonym"
                },
                {
                    "name": "HSPH4",
                    "type": "synonym"
                },
                {
                    "name": "HYOU1",
                    "type": "synonym"
                },
                {
                    "name": "IMD59",
                    "type": "synonym"
                },
                {
                    "name": "ORP-150",
                    "type": "synonym"
                },
                {
                    "name": "ORP150",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y4L1-1",
            "evidence": [
                {
                    "id": "233600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/233600"
                },
                {
                    "id": "0111974",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111974"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36016-1",
            "uniprot_ac": "P36016",
            "uniprot_id": "LHS1_YEAST",
            "refseq_ac": "NP_012850",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heat shock protein 70 homolog LHS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Hsp70 family chaperone LHS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LHS1",
                    "type": "recommended"
                },
                {
                    "name": "CER1",
                    "type": "synonym"
                },
                {
                    "name": "LHS1",
                    "type": "synonym"
                },
                {
                    "name": "SSI1",
                    "type": "synonym"
                },
                {
                    "name": "YKL355",
                    "type": "synonym"
                }
            ],
            "record_id": "P36016-1",
            "evidence": [
                {
                    "id": "0111974",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111974"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63617-1",
            "uniprot_ac": "Q63617",
            "uniprot_id": "HYOU1_RAT",
            "refseq_ac": "NP_620222",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hypoxia up-regulated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "150 kDa oxygen-regulated protein",
                    "type": "synonym"
                },
                {
                    "name": "ORP-150",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia up-regulated protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hypoxia up-regulated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "oxygen regulated protein (150kD)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hyou1",
                    "type": "recommended"
                },
                {
                    "name": "Cab140",
                    "type": "synonym"
                },
                {
                    "name": "Hsph4",
                    "type": "synonym"
                },
                {
                    "name": "Hyou1",
                    "type": "synonym"
                },
                {
                    "name": "Orp150",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63617-1",
            "evidence": [
                {
                    "id": "0111974",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111974"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O46067-1",
            "uniprot_ac": "O46067",
            "uniprot_id": "O46067_DROME",
            "refseq_ac": "NP_001162645",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hypoxia up-regulated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CG2918-PB",
                    "type": "synonym"
                },
                {
                    "name": "Grp170 co-chaperone, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Grp170-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grp170",
                    "type": "recommended"
                },
                {
                    "name": "CG2918",
                    "type": "synonym"
                },
                {
                    "name": "CT9894",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2918",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2918",
                    "type": "synonym"
                },
                {
                    "name": "EG:25E8.1",
                    "type": "synonym"
                },
                {
                    "name": "GRP170",
                    "type": "synonym"
                },
                {
                    "name": "Grp170",
                    "type": "synonym"
                }
            ],
            "record_id": "O46067-1",
            "evidence": [
                {
                    "id": "0111974",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111974"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111974"
}