{
    "disease_id": "DOID:0070751",
    "recommended_name": {
        "id": "DOID:0070751",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070751",
        "name": "mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures",
        "description": "An autosomal recessive intellectual developmental disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the WARS2 gene on chromosome 1p12."
    },
    "synonyms": [
        {
            "id": "DOID:0070751",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070751",
            "name": "NEMMLAS",
            "description": ""
        },
        {
            "id": "MONDO:0060578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060578",
            "name": "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures",
            "description": ""
        },
        {
            "id": "MONDO:0060578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060578",
            "name": "WARS2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0060578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060578",
            "name": "WARS2-related disorder",
            "description": ""
        },
        {
            "id": "MONDO:0060578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060578",
            "name": "mitochondrial tryptophanyl-tRNA synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0060578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060578",
            "name": "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures",
            "description": ""
        },
        {
            "id": "MONDO:0060578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060578",
            "name": "NEMMLAS",
            "description": ""
        },
        {
            "id": "MIM:617710",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617710",
            "name": "Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures",
            "description": "Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070751"
    ],
    "unlinked_id_list": []
}