{
    "disease_id": "DOID:0070451",
    "recommended_name": {
        "id": "DOID:0070451",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070451",
        "name": "mitochondrial DNA depletion syndrome 20",
        "description": "A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12."
    },
    "synonyms": [
        {
            "id": "DOID:0070451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070451",
            "name": "mitochondrial DNA depletion syndrome 20 (MNGIE type)",
            "description": ""
        },
        {
            "id": "MONDO:0030696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030696",
            "name": "mitochondrial DNA depletion syndrome 20 (mngie type)",
            "description": ""
        },
        {
            "id": "MONDO:0030696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030696",
            "name": "MTDPS20",
            "description": ""
        },
        {
            "id": "MONDO:0030696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030696",
            "name": "mitochondrial DNA depletion syndrome 20 (mngie type)",
            "description": ""
        },
        {
            "id": "MONDO:0030696",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030696",
            "name": "mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related",
            "description": ""
        },
        {
            "id": "MIM:619780",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619780",
            "name": "Mitochondrial DNA depletion syndrome 20, MNGIE type",
            "description": "Mitochondrial DNA depletion syndrome 20, MNGIE type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070451"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070451",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070451",
            "categories": []
        },
        {
            "id": "MONDO:0030696",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030696",
            "categories": []
        },
        {
            "id": "MIM:619780",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619780",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QJL4-1",
            "uniprot_ac": "F1QJL4",
            "uniprot_id": "F1QJL4_DANRE",
            "refseq_ac": "NP_001025345",
            "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 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lig3",
                    "type": "recommended"
                },
                {
                    "name": "im:7139055",
                    "type": "synonym"
                },
                {
                    "name": "im:7145225",
                    "type": "synonym"
                },
                {
                    "name": "lig3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb12c02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd10b03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fm79b09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112973",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QJL4-1",
            "evidence": [
                {
                    "id": "0070451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97386-1",
            "uniprot_ac": "P97386",
            "uniprot_id": "DNLI3_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA ligase 3",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase III",
                    "type": "synonym"
                },
                {
                    "name": "Polydeoxyribonucleotide synthase [ATP] 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lig3",
                    "type": "recommended"
                }
            ],
            "record_id": "P97386-1",
            "evidence": [
                {
                    "id": "0070451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49916-1",
            "uniprot_ac": "P49916",
            "uniprot_id": "DNLI3_HUMAN",
            "refseq_ac": "NP_002302",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA ligase 3",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase 3 isoform beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase III",
                    "type": "synonym"
                },
                {
                    "name": "Polydeoxyribonucleotide synthase [ATP] 3",
                    "type": "synonym"
                },
                {
                    "name": "ligase II, DNA, ATP-dependent",
                    "type": "synonym"
                },
                {
                    "name": "ligase III, DNA, ATP-dependent",
                    "type": "synonym"
                },
                {
                    "name": "polydeoxyribonucleotide synthase [ATP] 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LIG3",
                    "type": "recommended"
                },
                {
                    "name": "LIG2",
                    "type": "synonym"
                },
                {
                    "name": "LIG3alpha",
                    "type": "synonym"
                },
                {
                    "name": "LIG3",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS20",
                    "type": "synonym"
                }
            ],
            "record_id": "P49916-1",
            "evidence": [
                {
                    "id": "619780",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619780"
                },
                {
                    "id": "0070451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MKE9-1",
            "uniprot_ac": "A0A096MKE9",
            "uniprot_id": "A0A096MKE9_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": "DNA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lig3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A096MKE9-1",
            "evidence": [
                {
                    "id": "0070451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VG84-1",
            "uniprot_ac": "Q9VG84",
            "uniprot_id": "Q9VG84_DROME",
            "refseq_ac": "NP_650187",
            "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",
                    "type": "recommended"
                },
                {
                    "name": "6.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CG17227-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase 3",
                    "type": "synonym"
                },
                {
                    "name": "DNA ligase III",
                    "type": "synonym"
                },
                {
                    "name": "DNAlig3-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAlig3",
                    "type": "recommended"
                },
                {
                    "name": "CG17227",
                    "type": "synonym"
                },
                {
                    "name": "DNA-ligII",
                    "type": "synonym"
                },
                {
                    "name": "DNAlig3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17227",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17227",
                    "type": "synonym"
                },
                {
                    "name": "LIG3",
                    "type": "synonym"
                },
                {
                    "name": "Lig3",
                    "type": "synonym"
                },
                {
                    "name": "lig 3",
                    "type": "synonym"
                },
                {
                    "name": "lig3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VG84-1",
            "evidence": [
                {
                    "id": "0070451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070451"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070451"
}