{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0070751",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070751",
            "categories": []
        },
        {
            "id": "MONDO:0060578",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060578",
            "categories": []
        },
        {
            "id": "MIM:617710",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617710",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9UGM6-1",
            "uniprot_ac": "Q9UGM6",
            "uniprot_id": "SYWM_HUMAN",
            "refseq_ac": "NP_056651",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tryptophan--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "(Mt)TrpRS",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.2",
                    "type": "synonym"
                },
                {
                    "name": "TrpRS",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophanyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan tRNA ligase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan--tRNA ligase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan--tRNA ligase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WARS2",
                    "type": "recommended"
                },
                {
                    "name": "NEMMLAS",
                    "type": "synonym"
                },
                {
                    "name": "PKDYS3",
                    "type": "synonym"
                },
                {
                    "name": "TrpRS",
                    "type": "synonym"
                },
                {
                    "name": "WARS2",
                    "type": "synonym"
                },
                {
                    "name": "mtTrpRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UGM6-1",
            "evidence": [
                {
                    "id": "617710",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617710"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070751"
}