{
    "disease_id": "DOID:0111484",
    "recommended_name": {
        "id": "DOID:0111484",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111484",
        "name": "combined oxidative phosphorylation deficiency 18",
        "description": "A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111484",
            "name": "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111484",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111484",
            "name": "COXPD18",
            "description": ""
        },
        {
            "id": "MONDO:0014261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "name": "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene."
        },
        {
            "id": "MONDO:0014261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "name": "SFXN4 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in SFXN4",
            "description": ""
        },
        {
            "id": "MONDO:0014261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "name": "combined oxidative phosphorylation deficiency type 18",
            "description": ""
        },
        {
            "id": "MONDO:0014261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "name": "COXPD18",
            "description": ""
        },
        {
            "id": "MONDO:0014261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "name": "combined oxidative phosphorylation deficiency 18",
            "description": ""
        },
        {
            "id": "MIM:615578",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615578",
            "name": "Combined oxidative phosphorylation deficiency 18",
            "description": "Combined oxidative phosphorylation deficiency 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111484"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111484",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111484",
            "categories": []
        },
        {
            "id": "MONDO:0014261",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014261",
            "categories": []
        },
        {
            "id": "MIM:615578",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615578",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A8E7G5-1",
            "uniprot_ac": "A8E7G5",
            "uniprot_id": "SFXN4_DANRE",
            "refseq_ac": "NP_001070130",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sideroflexin-4",
                    "type": "recommended"
                },
                {
                    "name": "sideroflexin-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sfxn4",
                    "type": "recommended"
                },
                {
                    "name": "im:7151335",
                    "type": "synonym"
                },
                {
                    "name": "sfxn4",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-117n7.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153199",
                    "type": "synonym"
                }
            ],
            "record_id": "A8E7G5-1",
            "evidence": [
                {
                    "id": "0111484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111484"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q925N1-1",
            "uniprot_ac": "Q925N1",
            "uniprot_id": "SFXN4_MOUSE",
            "refseq_ac": "NP_444428",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sideroflexin-4",
                    "type": "recommended"
                },
                {
                    "name": "sideroflexin-4 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sfxn4",
                    "type": "recommended"
                },
                {
                    "name": "Sfxn4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q925N1-1",
            "evidence": [
                {
                    "id": "0111484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111484"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P4A7-1",
            "uniprot_ac": "Q6P4A7",
            "uniprot_id": "SFXN4_HUMAN",
            "refseq_ac": "NP_998814",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sideroflexin-4",
                    "type": "recommended"
                },
                {
                    "name": "Breast cancer resistance marker 1",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer resistance marker 1",
                    "type": "synonym"
                },
                {
                    "name": "sideroflexin-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SFXN4",
                    "type": "recommended"
                },
                {
                    "name": "BCRM1",
                    "type": "synonym"
                },
                {
                    "name": "COXPD18",
                    "type": "synonym"
                },
                {
                    "name": "SFXN4",
                    "type": "synonym"
                },
                {
                    "name": "SLC56A4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P4A7-1",
            "evidence": [
                {
                    "id": "615578",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615578"
                },
                {
                    "id": "0111484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111484"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12029-1",
            "uniprot_ac": "Q12029",
            "uniprot_id": "FSF1_YEAST",
            "refseq_ac": "NP_014914",
            "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": "Sideroflexin FSF1",
                    "type": "recommended"
                },
                {
                    "name": "Fsf1p",
                    "type": "synonym"
                },
                {
                    "name": "Fungal sideroflexin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FSF1",
                    "type": "recommended"
                },
                {
                    "name": "FSF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12029-1",
            "evidence": [
                {
                    "id": "0111484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111484"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G785-1",
            "uniprot_ac": "A0A8I6G785",
            "uniprot_id": "A0A8I6G785_RAT",
            "refseq_ac": "XP_038940686",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sideroflexin 4",
                    "type": "synonym"
                },
                {
                    "name": "sideroflexin-4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sfxn4",
                    "type": "recommended"
                },
                {
                    "name": "SLC64A4",
                    "type": "synonym"
                },
                {
                    "name": "Sfxn4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6G785-1",
            "evidence": [
                {
                    "id": "0111484",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111484"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111484"
}