{
    "disease_id": "DOID:0061066",
    "recommended_name": {
        "id": "DOID:0061066",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061066",
        "name": "immunodeficiency 96",
        "description": "A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030693",
            "name": "immunodeficiency 96",
            "description": "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair."
        },
        {
            "id": "MONDO:0030693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030693",
            "name": "IMD96",
            "description": ""
        },
        {
            "id": "MONDO:0030693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030693",
            "name": "immunodeficiency 96",
            "description": ""
        },
        {
            "id": "MONDO:0030693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030693",
            "name": "immunodeficiency, autosomal recessive due to LIG1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:619774",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619774",
            "name": "Immunodeficiency 96",
            "description": "Immunodeficiency 96"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061066"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061066",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061066",
            "categories": []
        },
        {
            "id": "MONDO:0030693",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030693",
            "categories": []
        },
        {
            "id": "MIM:619774",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619774",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S533-1",
            "uniprot_ac": "B0S533",
            "uniprot_id": "B0S533_DANRE",
            "refseq_ac": "NP_001119860",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase 1",
                    "type": "synonym"
                },
                {
                    "name": "LIG1, ligase I, DNA, ATP-dependent",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lig1",
                    "type": "recommended"
                },
                {
                    "name": "lig1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-35b8.5",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-35b8.7",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc54a11",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S533-1",
            "evidence": [
                {
                    "id": "0061066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37913-1",
            "uniprot_ac": "P37913",
            "uniprot_id": "DNLI1_MOUSE",
            "refseq_ac": "NP_034845",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA ligase 1",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase I",
                    "type": "synonym"
                },
                {
                    "name": "Polydeoxyribonucleotide synthase [ATP] 1",
                    "type": "synonym"
                },
                {
                    "name": "polydeoxyribonucleotide synthase [ATP] 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lig1",
                    "type": "recommended"
                },
                {
                    "name": "Lig-1",
                    "type": "synonym"
                },
                {
                    "name": "Lig1",
                    "type": "synonym"
                },
                {
                    "name": "LigI",
                    "type": "synonym"
                }
            ],
            "record_id": "P37913-1",
            "evidence": [
                {
                    "id": "0061066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18858-1",
            "uniprot_ac": "P18858",
            "uniprot_id": "DNLI1_HUMAN",
            "refseq_ac": "NP_001275993",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA ligase 1",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase I",
                    "type": "synonym"
                },
                {
                    "name": "Polydeoxyribonucleotide synthase [ATP] 1",
                    "type": "synonym"
                },
                {
                    "name": "ligase I, DNA, ATP-dependent",
                    "type": "synonym"
                },
                {
                    "name": "polydeoxyribonucleotide synthase [ATP] 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LIG1",
                    "type": "recommended"
                },
                {
                    "name": "IMD96",
                    "type": "synonym"
                },
                {
                    "name": "LIG1",
                    "type": "synonym"
                },
                {
                    "name": "LIGI",
                    "type": "synonym"
                },
                {
                    "name": "hLig1",
                    "type": "synonym"
                }
            ],
            "record_id": "P18858-1",
            "evidence": [
                {
                    "id": "619774",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619774"
                },
                {
                    "id": "0061066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04819-1",
            "uniprot_ac": "P04819",
            "uniprot_id": "DNLI1_YEAST",
            "refseq_ac": "NP_010117",
            "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": "DNA ligase 1",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase (ATP) CDC9",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase I",
                    "type": "synonym"
                },
                {
                    "name": "Polydeoxyribonucleotide synthase [ATP] 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC9",
                    "type": "recommended"
                },
                {
                    "name": "CDC9",
                    "type": "synonym"
                },
                {
                    "name": "MMS8",
                    "type": "synonym"
                }
            ],
            "record_id": "P04819-1",
            "evidence": [
                {
                    "id": "0061066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JHY8-1",
            "uniprot_ac": "Q9JHY8",
            "uniprot_id": "DNLI1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA ligase 1",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase I",
                    "type": "synonym"
                },
                {
                    "name": "Polydeoxyribonucleotide synthase [ATP] 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lig1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9JHY8-1",
            "evidence": [
                {
                    "id": "0061066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061066"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1H4-1",
            "uniprot_ac": "Q9W1H4",
            "uniprot_id": "DNLI1_DROME",
            "refseq_ac": "NP_611843",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA ligase 1",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CG5602-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase I",
                    "type": "synonym"
                },
                {
                    "name": "DNAlig1-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmDNA Lig I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAlig1",
                    "type": "recommended"
                },
                {
                    "name": "CG5602",
                    "type": "synonym"
                },
                {
                    "name": "DNA-lig1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-ligI",
                    "type": "synonym"
                },
                {
                    "name": "DNAlig1",
                    "type": "synonym"
                },
                {
                    "name": "Dlig-I",
                    "type": "synonym"
                },
                {
                    "name": "DmDNA Lig I",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5602",
                    "type": "synonym"
                },
                {
                    "name": "LIG1",
                    "type": "synonym"
                },
                {
                    "name": "dDNAlig1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1H4-1",
            "evidence": [
                {
                    "id": "0061066",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061066"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061066"
}