{
    "disease_id": "DOID:0080134",
    "recommended_name": {
        "id": "DOID:0080134",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080134",
        "name": "multiple mitochondrial dysfunctions syndrome 2",
        "description": "A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080134",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080134",
            "name": "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia",
            "description": ""
        },
        {
            "id": "DOID:0080134",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080134",
            "name": "BOLA3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013675",
            "name": "multiple mitochondrial dysfunctions syndrome 2",
            "description": "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene."
        },
        {
            "id": "MONDO:0013675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013675",
            "name": "BOLA3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013675",
            "name": "BOLA3 fatal multiple mitochondrial dysfunctions syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013675",
            "name": "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3",
            "description": ""
        },
        {
            "id": "MONDO:0013675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013675",
            "name": "multiple mitochondrial dysfunctions syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013675",
            "name": "multiple mitochondrial dysfunctions syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013675",
            "name": "MMDS2",
            "description": ""
        },
        {
            "id": "MIM:614299",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614299",
            "name": "Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia",
            "description": "Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080134"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080134",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080134",
            "categories": []
        },
        {
            "id": "MONDO:0013675",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013675",
            "categories": []
        },
        {
            "id": "MIM:614299",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614299",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CEI1-1",
            "uniprot_ac": "Q8CEI1",
            "uniprot_id": "BOLA3_MOUSE",
            "refseq_ac": "NP_780486",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BolA-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "bolA-like 3",
                    "type": "synonym"
                },
                {
                    "name": "bolA-like protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "bolA-like protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bola3",
                    "type": "recommended"
                },
                {
                    "name": "1810056O20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bola3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CEI1-1",
            "evidence": [
                {
                    "id": "0080134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q53S33-1",
            "uniprot_ac": "Q53S33",
            "uniprot_id": "BOLA3_HUMAN",
            "refseq_ac": "NP_001030582",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BolA-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "bolA homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "bolA-like protein 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "bolA-like protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BOLA3",
                    "type": "recommended"
                },
                {
                    "name": "BOLA3",
                    "type": "synonym"
                },
                {
                    "name": "MMDS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q53S33-1",
            "evidence": [
                {
                    "id": "614299",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614299"
                },
                {
                    "id": "0080134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39724-1",
            "uniprot_ac": "P39724",
            "uniprot_id": "BOL3_YEAST",
            "refseq_ac": "NP_009353",
            "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": "BolA-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Altered inheritance of mitochondria protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Bol3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BOL3",
                    "type": "recommended"
                },
                {
                    "name": "AIM1",
                    "type": "synonym"
                },
                {
                    "name": "BOL3",
                    "type": "synonym"
                }
            ],
            "record_id": "P39724-1",
            "evidence": [
                {
                    "id": "0080134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZT98-1",
            "uniprot_ac": "D3ZT98",
            "uniprot_id": "D3ZT98_RAT",
            "refseq_ac": "NP_001100071",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BolA-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "bolA homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "bolA-like protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bola3",
                    "type": "recommended"
                },
                {
                    "name": "Bola3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305975",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZT98-1",
            "evidence": [
                {
                    "id": "0080134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080134"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080134"
}