{
    "disease_id": "DOID:0080131",
    "recommended_name": {
        "id": "DOID:0080131",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080131",
        "name": "mitochondrial DNA depletion syndrome 13",
        "description": "A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16."
    },
    "synonyms": [
        {
            "id": "DOID:0080131",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080131",
            "name": "FBXL4 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0080131",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080131",
            "name": "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080131",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080131",
            "name": "mitochondrial DNA depletion syndrome 13, encephalomyopathic type",
            "description": ""
        },
        {
            "id": "MONDO:0014198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014198",
            "name": "mitochondrial DNA depletion syndrome 13",
            "description": "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene."
        },
        {
            "id": "MONDO:0014198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014198",
            "name": "FBXL4 mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014198",
            "name": "mitochondrial DNA depletion syndrome caused by mutation in FBXL4",
            "description": ""
        },
        {
            "id": "MONDO:0014198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014198",
            "name": "mitochondrial DNA depletion syndrome type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014198",
            "name": "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0014198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014198",
            "name": "BXL4-related early-onset mitochondrial encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014198",
            "name": "FBXL4 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014198",
            "name": "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014198",
            "name": "MTDPS13",
            "description": ""
        },
        {
            "id": "MONDO:0014198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014198",
            "name": "encephalomyopathic mitochondrial DNA depletion syndrome-13",
            "description": ""
        },
        {
            "id": "MONDO:0014198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014198",
            "name": "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)",
            "description": ""
        },
        {
            "id": "MIM:615471",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615471",
            "name": "Mitochondrial DNA depletion syndrome 13",
            "description": "Mitochondrial DNA depletion syndrome 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080131"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080131",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080131",
            "categories": []
        },
        {
            "id": "MONDO:0014198",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014198",
            "categories": []
        },
        {
            "id": "MIM:615471",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615471",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N367-1",
            "uniprot_ac": "A0A8M1N367",
            "uniprot_id": "A0A8M1N367_DANRE",
            "refseq_ac": "NP_001007316",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box/LRR-repeat protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fbxl4",
                    "type": "recommended"
                },
                {
                    "name": "fbxl4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92297",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N367-1",
            "evidence": [
                {
                    "id": "0080131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BH70-1",
            "uniprot_ac": "Q8BH70",
            "uniprot_id": "FBXL4_MOUSE",
            "refseq_ac": "NP_766576",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box/LRR-repeat protein 4",
                    "type": "recommended"
                },
                {
                    "name": "F-box and leucine-rich repeat protein 4",
                    "type": "synonym"
                },
                {
                    "name": "F-box/LRR-repeat protein 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "F-box/LRR-repeat protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxl4",
                    "type": "recommended"
                },
                {
                    "name": "FBL4",
                    "type": "synonym"
                },
                {
                    "name": "FBL5",
                    "type": "synonym"
                },
                {
                    "name": "Fbxl4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BH70-1",
            "evidence": [
                {
                    "id": "0080131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UKA2-1",
            "uniprot_ac": "Q9UKA2",
            "uniprot_id": "FBXL4_HUMAN",
            "refseq_ac": "NP_001265645",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box/LRR-repeat protein 4",
                    "type": "recommended"
                },
                {
                    "name": "F-box and leucine-rich repeat protein 4",
                    "type": "synonym"
                },
                {
                    "name": "F-box protein FBL4/FBL5",
                    "type": "synonym"
                },
                {
                    "name": "F-box/LRR-repeat protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBXL4",
                    "type": "recommended"
                },
                {
                    "name": "FBL4",
                    "type": "synonym"
                },
                {
                    "name": "FBL5",
                    "type": "synonym"
                },
                {
                    "name": "FBXL4",
                    "type": "synonym"
                },
                {
                    "name": "MTDPS13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UKA2-1",
            "evidence": [
                {
                    "id": "615471",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615471"
                },
                {
                    "id": "0080131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WBR8-1",
            "uniprot_ac": "B1WBR8",
            "uniprot_id": "B1WBR8_RAT",
            "refseq_ac": "NP_001382505",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box/LRR-repeat protein 4",
                    "type": "recommended"
                },
                {
                    "name": "F-box and leucine-rich repeat protein 4",
                    "type": "synonym"
                },
                {
                    "name": "F-box/LRR-repeat protein 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "F-box/LRR-repeat protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxl4",
                    "type": "recommended"
                },
                {
                    "name": "Fbxl4",
                    "type": "synonym"
                }
            ],
            "record_id": "B1WBR8-1",
            "evidence": [
                {
                    "id": "0080131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080131"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VY46-1",
            "uniprot_ac": "Q9VY46",
            "uniprot_id": "Q9VY46_DROME",
            "refseq_ac": "NP_572951",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG1839-PA",
                    "type": "synonym"
                },
                {
                    "name": "F box and leucine-rich-repeat gene 4",
                    "type": "synonym"
                },
                {
                    "name": "Fbxl4-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxl4",
                    "type": "recommended"
                },
                {
                    "name": "CG1839",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1839",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1839",
                    "type": "synonym"
                },
                {
                    "name": "FBXL4",
                    "type": "synonym"
                },
                {
                    "name": "Fbxl4",
                    "type": "synonym"
                },
                {
                    "name": "dFbxl4",
                    "type": "synonym"
                },
                {
                    "name": "fbxl4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VY46-1",
            "evidence": [
                {
                    "id": "0080131",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080131"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080131"
}