{
    "disease_id": "DOID:0070424",
    "recommended_name": {
        "id": "DOID:0070424",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070424",
        "name": "combined oxidative phosphorylation deficiency 44",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33."
    },
    "synonyms": [
        {
            "id": "DOID:0070424",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070424",
            "name": "COXPD44",
            "description": ""
        },
        {
            "id": "MONDO:0030020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030020",
            "name": "combined oxidative phosphorylation deficiency 44",
            "description": ""
        },
        {
            "id": "MONDO:0030020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030020",
            "name": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44",
            "description": ""
        },
        {
            "id": "MONDO:0030020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030020",
            "name": "COXPD44",
            "description": ""
        },
        {
            "id": "MONDO:0030020",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030020",
            "name": "combined oxidative phosphorylation deficiency 44",
            "description": ""
        },
        {
            "id": "MIM:618855",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618855",
            "name": "Combined oxidative phosphorylation deficiency 44",
            "description": "Combined oxidative phosphorylation deficiency 44"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070424"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070424",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070424",
            "categories": []
        },
        {
            "id": "MONDO:0030020",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030020",
            "categories": []
        },
        {
            "id": "MIM:618855",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618855",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UR43-1",
            "uniprot_ac": "A0A8N7UR43",
            "uniprot_id": "A0A8N7UR43_DANRE",
            "refseq_ac": "XP_021331610",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAST kinase domain-containing protein 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fastkd2",
                    "type": "recommended"
                },
                {
                    "name": "fastkd2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UR43-1",
            "evidence": [
                {
                    "id": "0070424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q922E6-1",
            "uniprot_ac": "Q922E6",
            "uniprot_id": "FAKD2_MOUSE",
            "refseq_ac": "NP_766010",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAST kinase domain-containing protein 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "FAST kinase domain-containing protein 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fastkd2",
                    "type": "recommended"
                },
                {
                    "name": "2810421I24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fastkd2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q922E6-1",
            "evidence": [
                {
                    "id": "0070424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NYY8-1",
            "uniprot_ac": "Q9NYY8",
            "uniprot_id": "FAKD2_HUMAN",
            "refseq_ac": "NP_001129665",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAST kinase domain-containing protein 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "FAST kinase domain-containing protein 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FASTKD2",
                    "type": "recommended"
                },
                {
                    "name": "COXPD44",
                    "type": "synonym"
                },
                {
                    "name": "FASTKD2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0971",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NYY8-1",
            "evidence": [
                {
                    "id": "618855",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618855"
                },
                {
                    "id": "0070424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M7V7-1",
            "uniprot_ac": "Q5M7V7",
            "uniprot_id": "FAKD2_RAT",
            "refseq_ac": "NP_001009673",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAST kinase domain-containing protein 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "FAST kinase domain-containing protein 2, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "FAST kinase domain-containing protein 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fastkd2",
                    "type": "recommended"
                },
                {
                    "name": "Fastkd2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307883",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M7V7-1",
            "evidence": [
                {
                    "id": "0070424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070424"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070424"
}