{
    "disease_id": "DOID:0060021",
    "recommended_name": {
        "id": "DOID:0060021",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060021",
        "name": "DNA ligase IV deficiency",
        "description": "A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay."
    },
    "synonyms": [
        {
            "id": "DOID:0060021",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060021",
            "name": "LIG4 Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011686",
            "name": "DNA ligase IV deficiency",
            "description": "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)."
        },
        {
            "id": "MONDO:0011686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011686",
            "name": "DNA ligase IV deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011686",
            "name": "LIG4 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011686",
            "name": "ligase 4 syndrome",
            "description": ""
        },
        {
            "id": "MIM:606593",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606593",
            "name": "LIG4 syndrome",
            "description": "LIG4 syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060021"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060021",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060021",
            "categories": []
        },
        {
            "id": "MONDO:0011686",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011686",
            "categories": []
        },
        {
            "id": "MIM:606593",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606593",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B636-1",
            "uniprot_ac": "A0ACD6B636",
            "uniprot_id": "A0ACD6B636_DANRE",
            "refseq_ac": "XP_005160015",
            "glycoprotein": "no",
            "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 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lig4",
                    "type": "recommended"
                },
                {
                    "name": "lig4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:165595",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B636-1",
            "evidence": [
                {
                    "id": "0060021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BTF7-1",
            "uniprot_ac": "Q8BTF7",
            "uniprot_id": "DNLI4_MOUSE",
            "refseq_ac": "NP_795927",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA ligase 4",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase 4",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase IV",
                    "type": "synonym"
                },
                {
                    "name": "Polydeoxyribonucleotide synthase [ATP] 4",
                    "type": "synonym"
                },
                {
                    "name": "polydeoxyribonucleotide synthase [ATP] 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lig4",
                    "type": "recommended"
                },
                {
                    "name": "5830471N16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lig4",
                    "type": "synonym"
                },
                {
                    "name": "tiny",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BTF7-1",
            "evidence": [
                {
                    "id": "0060021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49917-1",
            "uniprot_ac": "P49917",
            "uniprot_id": "DNLI4_HUMAN",
            "refseq_ac": "NP_001091738",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA ligase 4",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA joinase",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase IV",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Polydeoxyribonucleotide synthase [ATP] 4",
                    "type": "synonym"
                },
                {
                    "name": "ligase IV, DNA, ATP-dependent",
                    "type": "synonym"
                },
                {
                    "name": "polydeoxyribonucleotide synthase [ATP] 4",
                    "type": "synonym"
                },
                {
                    "name": "polynucleotide ligase",
                    "type": "synonym"
                },
                {
                    "name": "sealase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LIG4",
                    "type": "recommended"
                },
                {
                    "name": "LIG4S",
                    "type": "synonym"
                },
                {
                    "name": "LIG4",
                    "type": "synonym"
                }
            ],
            "record_id": "P49917-1",
            "evidence": [
                {
                    "id": "606593",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606593"
                },
                {
                    "id": "0060021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08387-1",
            "uniprot_ac": "Q08387",
            "uniprot_id": "DNLI4_YEAST",
            "refseq_ac": "NP_014647",
            "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": "DNA ligase 4",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase (ATP) DNL4",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase II",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase IV",
                    "type": "synonym"
                },
                {
                    "name": "Polydeoxyribonucleotide synthase [ATP] 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNL4",
                    "type": "recommended"
                },
                {
                    "name": "DNL4",
                    "type": "synonym"
                },
                {
                    "name": "LIG4",
                    "type": "synonym"
                },
                {
                    "name": "UND407",
                    "type": "synonym"
                },
                {
                    "name": "UNE452",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08387-1",
            "evidence": [
                {
                    "id": "0060021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A0U6-1",
            "uniprot_ac": "D4A0U6",
            "uniprot_id": "D4A0U6_RAT",
            "refseq_ac": "NP_001099565",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase (ATP) 4",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase 4",
                    "type": "synonym"
                },
                {
                    "name": "ligase IV, DNA, ATP-dependent",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lig4",
                    "type": "recommended"
                },
                {
                    "name": "Lig4",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A0U6-1",
            "evidence": [
                {
                    "id": "0060021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060021"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYA5-1",
            "uniprot_ac": "Q9VYA5",
            "uniprot_id": "Q9VYA5_DROME",
            "refseq_ac": "NP_572907",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CG12176-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase 4",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase IV",
                    "type": "synonym"
                },
                {
                    "name": "DNAlig4-PA",
                    "type": "synonym"
                },
                {
                    "name": "Polydeoxyribonucleotide synthase [ATP] 4",
                    "type": "synonym"
                },
                {
                    "name": "ligase 4",
                    "type": "synonym"
                },
                {
                    "name": "ligase4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAlig4",
                    "type": "recommended"
                },
                {
                    "name": "CG12176",
                    "type": "synonym"
                },
                {
                    "name": "DNAlig4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12176",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12176",
                    "type": "synonym"
                },
                {
                    "name": "LIG4",
                    "type": "synonym"
                },
                {
                    "name": "Lig4",
                    "type": "synonym"
                },
                {
                    "name": "RE37186",
                    "type": "synonym"
                },
                {
                    "name": "lig4",
                    "type": "synonym"
                },
                {
                    "name": "ligIV",
                    "type": "synonym"
                },
                {
                    "name": "ligase IV",
                    "type": "synonym"
                },
                {
                    "name": "ligaseIV",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYA5-1",
            "evidence": [
                {
                    "id": "0060021",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060021"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060021"
}