{
    "disease_id": "DOID:0111493", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013971", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013971", 
            "name": "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013971", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013971", 
            "name": "combined oxidative phosphorylation deficiency 12; COXPD12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013971", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013971", 
            "name": "combined oxidative phosphorylation deficiency caused by mutation in EARS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013971", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013971", 
            "name": "leukoencephalopathy with thalamus and brainstem involvement and high lactate"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013971", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013971", 
            "name": "combined oxidative phosphorylation defect type 12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013971", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013971", 
            "name": "combined oxidative phosphorylation deficiency type 12"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013971", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013971", 
            "name": "LTBL"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013971", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013971", 
            "name": "EARS2 combined oxidative phosphorylation deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013971", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013971", 
            "name": "COXPD12"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111493", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111493", 
            "name": "COXPD12"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111493", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111493", 
            "name": "LTBL"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111493", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111493", 
            "name": "leukoencephalopathy with thalamus and brainstem involvement and high lactate"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111493", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111493", 
            "name": "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111493", 
        "description": "A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in EARS2 on chromosome 16p12.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111493", 
        "name": "combined oxidative phosphorylation deficiency 12"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111493#disease-associations", 
            "id": "0111493", 
            "database": "Alliance of Genome Resources"
        }
    ]
}