{
    "disease_id": "DOID:0070737",
    "recommended_name": {
        "id": "DOID:0070737",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070737",
        "name": "multiple mitochondrial dysfunctions syndrome 10",
        "description": "A multiple mitochondrial dysfunctions syndrome characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, respiratory insufficiency and central nervous symptoms, including learning difficulties and neurobehavioral comorbidities, that has_material_basis_in compound heterozygous mutation in the CIAO1 gene on chromosome 2q11."
    },
    "synonyms": [
        {
            "id": "DOID:0070737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070737",
            "name": "MMDS10",
            "description": ""
        },
        {
            "id": "MONDO:0975806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975806",
            "name": "multiple mitochondrial dysfunctions syndrome 10",
            "description": ""
        },
        {
            "id": "MIM:620960",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620960",
            "name": "Multiple mitochondrial dysfunctions syndrome 10",
            "description": "Multiple mitochondrial dysfunctions syndrome 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070737"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070737",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070737",
            "categories": []
        },
        {
            "id": "MONDO:0975806",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975806",
            "categories": []
        },
        {
            "id": "MIM:620960",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620960",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O76071-1",
            "uniprot_ac": "O76071",
            "uniprot_id": "CIAO1_HUMAN",
            "refseq_ac": "NP_004795",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable cytosolic iron-sulfur protein assembly protein CIAO1",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 39",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 39",
                    "type": "synonym"
                },
                {
                    "name": "WD40 protein Ciao1",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic iron-sulfur protein assembly 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "probable cytosolic iron-sulfur protein assembly protein CIAO1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CIAO1",
                    "type": "recommended"
                },
                {
                    "name": "CIA1",
                    "type": "synonym"
                },
                {
                    "name": "CIAO1",
                    "type": "synonym"
                },
                {
                    "name": "MMDS10",
                    "type": "synonym"
                },
                {
                    "name": "WDR39",
                    "type": "synonym"
                }
            ],
            "record_id": "O76071-1",
            "evidence": [
                {
                    "id": "620960",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620960"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070737"
}