{
    "disease_id": "DOID:0061070",
    "recommended_name": {
        "id": "DOID:0061070",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061070",
        "name": "immunodeficiency 100",
        "description": "A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0061070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061070",
            "name": "immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0020840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020840",
            "name": "pulmonary alveolar proteinosis with hypogammaglobulinemia",
            "description": "A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes."
        },
        {
            "id": "MONDO:0020840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020840",
            "name": "OAS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0020840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020840",
            "name": "OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0020840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020840",
            "name": "PAPHG",
            "description": ""
        },
        {
            "id": "MONDO:0020840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020840",
            "name": "immunodeficiency (due to OAS1 gain-of-function variant) with pulmonary alveolar proteinosis and hypogammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0020840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020840",
            "name": "infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0020840",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020840",
            "name": "pulmonary alveolar proteinosis with hypogammaglobulinemia",
            "description": ""
        },
        {
            "id": "MIM:618042",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618042",
            "name": "Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia",
            "description": "Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061070"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061070",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061070",
            "categories": []
        },
        {
            "id": "MONDO:0020840",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020840",
            "categories": []
        },
        {
            "id": "MIM:618042",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618042",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VI95-1",
            "uniprot_ac": "Q8VI95",
            "uniprot_id": "OAS1D_MOUSE",
            "refseq_ac": "NP_598654",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive 2'-5'-oligoadenylate synthase 1D",
                    "type": "recommended"
                },
                {
                    "name": "2',5'-oligoadenylate synthetase-like 8",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'olygoadenylate synthetase 1D",
                    "type": "synonym"
                },
                {
                    "name": "inactive 2'-5'-oligoadenylate synthase 1D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oas1d",
                    "type": "recommended"
                },
                {
                    "name": "Oas1d",
                    "type": "synonym"
                },
                {
                    "name": "Oasl8",
                    "type": "synonym"
                },
                {
                    "name": "oasl8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VI95-1",
            "evidence": [
                {
                    "id": "0061070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q924S2-1",
            "uniprot_ac": "Q924S2",
            "uniprot_id": "OAS1C_MOUSE",
            "refseq_ac": "NP_291019",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive 2'-5' oligoadenylate synthetase 1C",
                    "type": "recommended"
                },
                {
                    "name": "2',5'-oligoadenylate synthetase-like 5",
                    "type": "synonym"
                },
                {
                    "name": "2'-5' oligoadenylate synthetase-like 2",
                    "type": "synonym"
                },
                {
                    "name": "inactive 2'-5' oligoadenylate synthetase 1C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oas1c",
                    "type": "recommended"
                },
                {
                    "name": "Oas1c",
                    "type": "synonym"
                },
                {
                    "name": "Oasl2",
                    "type": "synonym"
                },
                {
                    "name": "Oasl5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924S2-1",
            "evidence": [
                {
                    "id": "0061070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11928-1",
            "uniprot_ac": "P11928",
            "uniprot_id": "OAS1A_MOUSE",
            "refseq_ac": "NP_660212",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "2'-5'-oligoadenylate synthase 1A",
                    "type": "recommended"
                },
                {
                    "name": "(2-5')oligo(A) synthase 1A",
                    "type": "synonym"
                },
                {
                    "name": "(2-5')oligo(A) synthetase 1A",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoadenylate synthase 1A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoadenylate synthase 1A",
                    "type": "synonym"
                },
                {
                    "name": "2-5A synthase 1A",
                    "type": "synonym"
                },
                {
                    "name": "2-5A synthetase 1A",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.84",
                    "type": "synonym"
                },
                {
                    "name": "p42 OAS",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oas1a",
                    "type": "recommended"
                },
                {
                    "name": "L3",
                    "type": "synonym"
                },
                {
                    "name": "Oas1a",
                    "type": "synonym"
                },
                {
                    "name": "Oias1",
                    "type": "synonym"
                }
            ],
            "record_id": "P11928-1",
            "evidence": [
                {
                    "id": "0061070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60856-1",
            "uniprot_ac": "Q60856",
            "uniprot_id": "OAS1B_MOUSE",
            "refseq_ac": "NP_001077394",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive 2'-5'-oligoadenylate synthase 1B",
                    "type": "recommended"
                },
                {
                    "name": "(2-5')oligo(A) synthase 1B",
                    "type": "synonym"
                },
                {
                    "name": "(2-5')oligo(A) synthetase 1b",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoadenylate synthase-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoadenylate synthetase-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "2-5A synthase 1B",
                    "type": "synonym"
                },
                {
                    "name": "2-5A synthetase 1B",
                    "type": "synonym"
                },
                {
                    "name": "Flavivirus resistance",
                    "type": "synonym"
                },
                {
                    "name": "inactive 2'-5'-oligoadenylate synthase 1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oas1b",
                    "type": "recommended"
                },
                {
                    "name": "Flv",
                    "type": "synonym"
                },
                {
                    "name": "L1",
                    "type": "synonym"
                },
                {
                    "name": "Mmu-L1",
                    "type": "synonym"
                },
                {
                    "name": "Oas1b",
                    "type": "synonym"
                },
                {
                    "name": "Oas1",
                    "type": "synonym"
                },
                {
                    "name": "Oias-2",
                    "type": "synonym"
                },
                {
                    "name": "Oias2",
                    "type": "synonym"
                },
                {
                    "name": "Wnv",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60856-1",
            "evidence": [
                {
                    "id": "0061070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0J9YV76-1",
            "uniprot_ac": "A0A0J9YV76",
            "uniprot_id": "A0A0J9YV76_MOUSE",
            "refseq_ac": "NP_001334379",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "2'-5' oligoadenylate synthetase 1E isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "2'-5' oligoadenylate synthetase 1E",
                    "type": "synonym"
                },
                {
                    "name": "2'-5' oligoadenylate synthetase-like 7",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'olygoadenylate synthetase 1E",
                    "type": "synonym"
                },
                {
                    "name": "2,5-oligoadenylate synthetase-like 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oas1e",
                    "type": "recommended"
                },
                {
                    "name": "Oas1e",
                    "type": "synonym"
                },
                {
                    "name": "oasl7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0J9YV76-1",
            "evidence": [
                {
                    "id": "0061070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00973-1",
            "uniprot_ac": "P00973",
            "uniprot_id": "OAS1_HUMAN",
            "refseq_ac": "NP_001027581",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "2'-5'-oligoadenylate synthase 1",
                    "type": "recommended"
                },
                {
                    "name": "(2-5')oligo(A) synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "2',5'-oligo A synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoadenylate synthase 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoadenylate synthase 1 isoform p42",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoadenylate synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoadenylate synthetase 1, 40/46kDa",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoisoadenylate synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "2-5A synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "2-5A synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.84",
                    "type": "synonym"
                },
                {
                    "name": "E16 (2'-5') oligo A synthetase",
                    "type": "synonym"
                },
                {
                    "name": "E18/E16",
                    "type": "synonym"
                },
                {
                    "name": "p46/p42 OAS",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OAS1",
                    "type": "recommended"
                },
                {
                    "name": "E18/E16",
                    "type": "synonym"
                },
                {
                    "name": "IFI-4",
                    "type": "synonym"
                },
                {
                    "name": "IMD100",
                    "type": "synonym"
                },
                {
                    "name": "OAS1",
                    "type": "synonym"
                },
                {
                    "name": "OIASI",
                    "type": "synonym"
                },
                {
                    "name": "OIAS",
                    "type": "synonym"
                }
            ],
            "record_id": "P00973-1",
            "evidence": [
                {
                    "id": "618042",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618042"
                },
                {
                    "id": "0061070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05961-1",
            "uniprot_ac": "Q05961",
            "uniprot_id": "OAS1A_RAT",
            "refseq_ac": "NP_620268",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "2'-5'-oligoadenylate synthase 1A",
                    "type": "recommended"
                },
                {
                    "name": "(2-5')oligo(A) synthase 1A",
                    "type": "synonym"
                },
                {
                    "name": "(2-5')oligo(A) synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "(2-5')oligo(A) synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "2',5'-oligoadenylate synthetase 1, 40/46kDa",
                    "type": "synonym"
                },
                {
                    "name": "2'-5' oligoadenylate synthetase 1G",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoadenylate synthase 1A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoadenylate synthase 1A",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoadenylate synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "2'-5'-oligoadenylate synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "2-5A synthase 1A",
                    "type": "synonym"
                },
                {
                    "name": "2-5A synthase 1",
                    "type": "synonym"
                },
                {
                    "name": "2-5A synthetase 1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.84",
                    "type": "synonym"
                },
                {
                    "name": "25 oligoadenylate synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oas1a",
                    "type": "recommended"
                },
                {
                    "name": "Oas1i",
                    "type": "recommended"
                },
                {
                    "name": "Oas1a",
                    "type": "synonym"
                },
                {
                    "name": "Oas1g",
                    "type": "synonym"
                },
                {
                    "name": "Oas1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05961-1",
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                {
                    "id": "0061070",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BKD0-1",
            "uniprot_ac": "Q5BKD0",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive 2'-5'-oligoadenylate synthase 1B",
                    "type": "recommended"
                },
                {
                    "name": "(2-5')oligo(A) synthase 1B",
                    "type": "synonym"
                },
                {
                    "name": "2'5' oligoadenylate synthetase-2",
                    "type": "synonym"
                },
                {
                    "name": "2-5A synthase 1B",
                    "type": "synonym"
                },
                {
                    "name": "25 oligoadenylate synthetase-2",
                    "type": "synonym"
                },
                {
                    "name": "inactive 2'-5'-oligoadenylate synthase 1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oas1b",
                    "type": "recommended"
                },
                {
                    "name": "Oas1h",
                    "type": "recommended"
                },
                {
                    "name": "Oas1k",
                    "type": "recommended"
                },
                {
                    "name": "Oas1b",
                    "type": "synonym"
                },
                {
                    "name": "Oas1f",
                    "type": "synonym"
                },
                {
                    "name": "Oas1h",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BKD0-1",
            "evidence": [
                {
                    "id": "0061070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061070"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8J8XAX4-1",
            "uniprot_ac": "A0A8J8XAX4",
            "uniprot_id": "A0A8J8XAX4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "2'-5' oligoadenylate synthetase 1D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oas1d",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8J8XAX4-1",
            "evidence": [
                {
                    "id": "0061070",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061070"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061070"
}