{
    "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": []
}