{
    "disease_id": "DOID:0081384",
    "recommended_name": {
        "id": "DOID:0081384",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081384",
        "name": "ataxia-telangiectasia-like disorder 1",
        "description": "An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0024557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024557",
            "name": "ataxia-telangiectasia-like disorder 1",
            "description": "Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene."
        },
        {
            "id": "MONDO:0024557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024557",
            "name": "MRE11 ataxia - telangiectasia-like disorder",
            "description": ""
        },
        {
            "id": "MONDO:0024557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024557",
            "name": "MRE11 ataxia-telangiectasia-like disorder",
            "description": ""
        },
        {
            "id": "MONDO:0024557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024557",
            "name": "ataxia - telangiectasia-like disorder caused by mutation in MRE11",
            "description": ""
        },
        {
            "id": "MONDO:0024557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024557",
            "name": "ataxia-telangiectasia-like disorder 1",
            "description": ""
        },
        {
            "id": "MONDO:0024557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024557",
            "name": "ataxia-telangiectasia-like disorder caused by mutation in MRE11",
            "description": ""
        },
        {
            "id": "MONDO:0024557",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024557",
            "name": "ATLD1",
            "description": ""
        },
        {
            "id": "MIM:604391",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604391",
            "name": "Ataxia-telangiectasia-like disorder 1",
            "description": "Ataxia-telangiectasia-like disorder 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081384"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081384",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081384",
            "categories": []
        },
        {
            "id": "MONDO:0024557",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024557",
            "categories": []
        },
        {
            "id": "MIM:604391",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604391",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QPT3-1",
            "uniprot_ac": "A0A8M9QPT3",
            "uniprot_id": "A0A8M9QPT3_DANRE",
            "refseq_ac": "NP_001307188",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Double-strand break repair protein",
                    "type": "recommended"
                },
                {
                    "name": "MRE11 homolog, double strand break repair nuclease A",
                    "type": "synonym"
                },
                {
                    "name": "double-strand break repair protein MRE11",
                    "type": "synonym"
                },
                {
                    "name": "meiotic recombination 11 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mre11a",
                    "type": "recommended"
                },
                {
                    "name": "fc38f05",
                    "type": "synonym"
                },
                {
                    "name": "mre11a",
                    "type": "synonym"
                },
                {
                    "name": "wu:faa63d12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc38f05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64018",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QPT3-1",
            "evidence": [
                {
                    "id": "0081384",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081384"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61216-1",
            "uniprot_ac": "Q61216",
            "uniprot_id": "MRE11_MOUSE",
            "refseq_ac": "NP_001297657",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Double-strand break repair protein MRE11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Meiotic recombination 11 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Meiotic recombination 11 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "MmMRE11A",
                    "type": "synonym"
                },
                {
                    "name": "double-strand break repair protein MRE11 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "double-strand break repair protein MRE11A",
                    "type": "synonym"
                },
                {
                    "name": "meiotic recombination 11 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "meiotic recombination 11 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "mmMRE11A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mre11a",
                    "type": "recommended"
                },
                {
                    "name": "Mre11",
                    "type": "recommended"
                },
                {
                    "name": "Mre11a",
                    "type": "synonym"
                },
                {
                    "name": "Mre11b",
                    "type": "synonym"
                },
                {
                    "name": "Mre11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61216-1",
            "evidence": [
                {
                    "id": "0081384",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081384"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49959-1",
            "uniprot_ac": "P49959",
            "uniprot_id": "MRE11_HUMAN",
            "refseq_ac": "NP_005581",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Double-strand break repair protein MRE11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "AT-like disease",
                    "type": "synonym"
                },
                {
                    "name": "DNA recombination and repair protein",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 double strand break repair nuclease A",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 homolog A, double strand break repair nuclease",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 homolog, double strand break repair nuclease A",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 meiotic recombination 11 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 meiotic recombination 11-like protein A",
                    "type": "synonym"
                },
                {
                    "name": "Meiotic recombination 11 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Meiotic recombination 11 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "double-strand break repair protein MRE11 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "double-strand break repair protein MRE11A",
                    "type": "synonym"
                },
                {
                    "name": "endo/exonuclease Mre11",
                    "type": "synonym"
                },
                {
                    "name": "meiotic recombination 11 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "meiotic recombination 11 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRE11",
                    "type": "recommended"
                },
                {
                    "name": "ATLD",
                    "type": "synonym"
                },
                {
                    "name": "HNGS1",
                    "type": "synonym"
                },
                {
                    "name": "MRE11A",
                    "type": "synonym"
                },
                {
                    "name": "MRE11B",
                    "type": "synonym"
                },
                {
                    "name": "MRE11",
                    "type": "synonym"
                }
            ],
            "record_id": "P49959-1",
            "evidence": [
                {
                    "id": "604391",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604391"
                },
                {
                    "id": "0081384",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081384"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32829-1",
            "uniprot_ac": "P32829",
            "uniprot_id": "MRE11_YEAST",
            "refseq_ac": "NP_013951",
            "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": "Double-strand break repair protein MRE11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "MRX complex nuclease subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRE11",
                    "type": "recommended"
                },
                {
                    "name": "MRE11",
                    "type": "synonym"
                },
                {
                    "name": "NGS1",
                    "type": "synonym"
                },
                {
                    "name": "RAD58",
                    "type": "synonym"
                },
                {
                    "name": "XRS4",
                    "type": "synonym"
                },
                {
                    "name": "YM9959.06C",
                    "type": "synonym"
                }
            ],
            "record_id": "P32829-1",
            "evidence": [
                {
                    "id": "0081384",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081384"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JIM0-1",
            "uniprot_ac": "Q9JIM0",
            "uniprot_id": "MRE11_RAT",
            "refseq_ac": "NP_071615",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Double-strand break repair protein MRE11",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Double-strand break repair protein MRE11A",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 homolog A, double strand break repair nuclease",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 homolog, double strand break repair nuclease A",
                    "type": "synonym"
                },
                {
                    "name": "MRE11 meiotic recombination 11 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Meiotic recombination 11 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Meiotic recombination 11 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "double-strand break repair protein MRE11A",
                    "type": "synonym"
                },
                {
                    "name": "double-strand break repair protein MRE11",
                    "type": "synonym"
                },
                {
                    "name": "meiotic recombination 11 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "meiotic recombination 11 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mre11",
                    "type": "recommended"
                },
                {
                    "name": "Mre11a",
                    "type": "synonym"
                },
                {
                    "name": "Mre11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIM0-1",
            "evidence": [
                {
                    "id": "0081384",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081384"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XYZ4-1",
            "uniprot_ac": "Q9XYZ4",
            "uniprot_id": "Q9XYZ4_DROME",
            "refseq_ac": "NP_523547",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Double-strand break repair protein",
                    "type": "recommended"
                },
                {
                    "name": "CG16928-PA",
                    "type": "synonym"
                },
                {
                    "name": "meiotic recombination 11",
                    "type": "synonym"
                },
                {
                    "name": "mre11-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mre11",
                    "type": "recommended"
                },
                {
                    "name": "16928",
                    "type": "synonym"
                },
                {
                    "name": "CG16928",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16928",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG16928",
                    "type": "synonym"
                },
                {
                    "name": "MRE11",
                    "type": "synonym"
                },
                {
                    "name": "Mre11",
                    "type": "synonym"
                },
                {
                    "name": "dMre11",
                    "type": "synonym"
                },
                {
                    "name": "mre11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XYZ4-1",
            "evidence": [
                {
                    "id": "0081384",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081384"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081384"
}