{
    "disease_id": "DOID:0070750",
    "recommended_name": {
        "id": "DOID:0070750",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070750",
        "name": "mitochondrial myopathy and ataxia",
        "description": "A mitochondrial DNA depletion syndrome characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MSTO1 gene on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0044714",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044714",
            "name": "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044714",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044714",
            "name": "mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044714",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044714",
            "name": "MMYAT",
            "description": ""
        },
        {
            "id": "MIM:617675",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617675",
            "name": "Myopathy, mitochondrial, and ataxia",
            "description": "Myopathy, mitochondrial, and ataxia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070750"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070750",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070750",
            "categories": []
        },
        {
            "id": "MONDO:0044714",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044714",
            "categories": []
        },
        {
            "id": "MIM:617675",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617675",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9BUK6-1",
            "uniprot_ac": "Q9BUK6",
            "uniprot_id": "MSTO1_HUMAN",
            "refseq_ac": "NP_001243461",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein misato homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "misato 1, mitochondrial distribution and morphology regulator",
                    "type": "synonym"
                },
                {
                    "name": "protein misato homolog 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "protein misato homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSTO1",
                    "type": "recommended"
                },
                {
                    "name": "LST005",
                    "type": "synonym"
                },
                {
                    "name": "MMYAT",
                    "type": "synonym"
                },
                {
                    "name": "MSTO1",
                    "type": "synonym"
                },
                {
                    "name": "MST",
                    "type": "synonym"
                },
                {
                    "name": "SLTP005",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BUK6-1",
            "evidence": [
                {
                    "id": "617675",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617675"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070750"
}