{
    "disease_id": "DOID:0111493",
    "recommended_name": {
        "id": "DOID:0111493",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111493",
        "name": "combined oxidative phosphorylation deficiency 12",
        "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 the EARS2 gene on chromosome 16p12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111493",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111493",
            "name": "COXPD12",
            "description": ""
        },
        {
            "id": "DOID:0111493",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111493",
            "name": "LTBL",
            "description": ""
        },
        {
            "id": "DOID:0111493",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111493",
            "name": "leukoencephalopathy with thalamus and brainstem involvement and high lactate",
            "description": ""
        },
        {
            "id": "DOID:0111493",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111493",
            "name": "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013971",
            "name": "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome",
            "description": "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward."
        },
        {
            "id": "MONDO:0013971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013971",
            "name": "COXPD12",
            "description": ""
        },
        {
            "id": "MONDO:0013971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013971",
            "name": "EARS2 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013971",
            "name": "LTBL",
            "description": ""
        },
        {
            "id": "MONDO:0013971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013971",
            "name": "combined oxidative phosphorylation defect type 12",
            "description": ""
        },
        {
            "id": "MONDO:0013971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013971",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in EARS2",
            "description": ""
        },
        {
            "id": "MONDO:0013971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013971",
            "name": "combined oxidative phosphorylation deficiency type 12",
            "description": ""
        },
        {
            "id": "MONDO:0013971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013971",
            "name": "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013971",
            "name": "combined oxidative phosphorylation deficiency 12",
            "description": ""
        },
        {
            "id": "MIM:614924",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614924",
            "name": "Combined oxidative phosphorylation deficiency 12",
            "description": "Combined oxidative phosphorylation deficiency 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111493"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111493",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111493",
            "categories": []
        },
        {
            "id": "MONDO:0013971",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013971",
            "categories": []
        },
        {
            "id": "MIM:614924",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614924",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q0P499-1",
            "uniprot_ac": "Q0P499",
            "uniprot_id": "SYEM_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.17",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.24",
                    "type": "synonym"
                },
                {
                    "name": "GluRS",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate--tRNA(Gln) ligase EARS2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial glutamyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "mtGluRS",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ears2",
                    "type": "recommended"
                },
                {
                    "name": "mtGluRS",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153247",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0P499-1",
            "evidence": [
                {
                    "id": "0111493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CXJ1-1",
            "uniprot_ac": "Q9CXJ1",
            "uniprot_id": "SYEM_MOUSE",
            "refseq_ac": "NP_080416",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.17",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.24",
                    "type": "synonym"
                },
                {
                    "name": "GluRS",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate--tRNA(Gln) ligase EARS2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial glutamyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "gluRS",
                    "type": "synonym"
                },
                {
                    "name": "glutamate--tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate--tRNA(Gln) ligase EARS2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glutamyl-tRNA synthetase 2 (mitochondrial)(putative)",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glutamyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "mtGluRS",
                    "type": "synonym"
                },
                {
                    "name": "nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable glutamate--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable glutamyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ears2",
                    "type": "recommended"
                },
                {
                    "name": "3230401I01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ears2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1970",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1970",
                    "type": "synonym"
                },
                {
                    "name": "mtGluRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CXJ1-1",
            "evidence": [
                {
                    "id": "0111493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5JPH6-1",
            "uniprot_ac": "Q5JPH6",
            "uniprot_id": "SYEM_HUMAN",
            "refseq_ac": "NP_001077083",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.17",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.24",
                    "type": "synonym"
                },
                {
                    "name": "GluRS",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate--tRNA(Gln) ligase EARS2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial glutamyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate tRNA ligase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glutamate--tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate--tRNA(Gln) ligase EARS2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial glutamyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "mtGluRS",
                    "type": "synonym"
                },
                {
                    "name": "nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable glutamate--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable glutamyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EARS2",
                    "type": "recommended"
                },
                {
                    "name": "COXPD12",
                    "type": "synonym"
                },
                {
                    "name": "EARS2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1970",
                    "type": "synonym"
                },
                {
                    "name": "MSE1",
                    "type": "synonym"
                },
                {
                    "name": "gluRS",
                    "type": "synonym"
                },
                {
                    "name": "mtGlnRS",
                    "type": "synonym"
                },
                {
                    "name": "mtGluRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5JPH6-1",
            "evidence": [
                {
                    "id": "614924",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614924"
                },
                {
                    "id": "0111493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48525-1",
            "uniprot_ac": "P48525",
            "uniprot_id": "SYEM_YEAST",
            "refseq_ac": "NP_014609",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.17",
                    "type": "synonym"
                },
                {
                    "name": "GluRS",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "glutamate--tRNA ligase MSE1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSE1",
                    "type": "recommended"
                },
                {
                    "name": "MSE1",
                    "type": "synonym"
                }
            ],
            "record_id": "P48525-1",
            "evidence": [
                {
                    "id": "0111493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RAI4-1",
            "uniprot_ac": "M0RAI4",
            "uniprot_id": "M0RAI4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.17",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.24",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate--tRNA(Gln) ligase EARS2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial glutamyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ears2",
                    "type": "recommended"
                },
                {
                    "name": "Gga2",
                    "type": "recommended"
                },
                {
                    "name": "Gga2",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RAI4-1",
            "evidence": [
                {
                    "id": "0111493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VV59-1",
            "uniprot_ac": "Q9VV59",
            "uniprot_id": "Q9VV59_DROME",
            "refseq_ac": "NP_648894",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.17",
                    "type": "synonym"
                },
                {
                    "name": "6.1.1.24",
                    "type": "synonym"
                },
                {
                    "name": "CG4573-PA",
                    "type": "synonym"
                },
                {
                    "name": "GluRS-m-PA",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate--tRNA(Gln) ligase EARS2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Glutamyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial glutamyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GluRS-m",
                    "type": "recommended"
                },
                {
                    "name": "CG4573",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4573",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4573",
                    "type": "synonym"
                },
                {
                    "name": "GluRS-m",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VV59-1",
            "evidence": [
                {
                    "id": "0111493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111493"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111493"
}