{
    "disease_id": "DOID:0112211",
    "recommended_name": {
        "id": "DOID:0112211",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112211",
        "name": "developmental and epileptic encephalopathy 75",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112211",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112211",
            "name": "DEE75",
            "description": ""
        },
        {
            "id": "DOID:0112211",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112211",
            "name": "early infantile epileptic encephalopathy 75",
            "description": ""
        },
        {
            "id": "MONDO:0032752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032752",
            "name": "developmental and epileptic encephalopathy, 75",
            "description": ""
        },
        {
            "id": "MONDO:0032752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032752",
            "name": "DEE75",
            "description": ""
        },
        {
            "id": "MONDO:0032752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032752",
            "name": "EIEE75",
            "description": ""
        },
        {
            "id": "MONDO:0032752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032752",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75",
            "description": ""
        },
        {
            "id": "MONDO:0032752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032752",
            "name": "developmental and epileptic encephalopathy 75",
            "description": ""
        },
        {
            "id": "MONDO:0032752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032752",
            "name": "epileptic encephalopathy, early infantile, 75",
            "description": ""
        },
        {
            "id": "MIM:618437",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618437",
            "name": "Developmental and epileptic encephalopathy 75",
            "description": "Developmental and epileptic encephalopathy 75"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112211"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112211",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112211",
            "categories": []
        },
        {
            "id": "MONDO:0032752",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032752",
            "categories": []
        },
        {
            "id": "MIM:618437",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618437",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CFI5-1",
            "uniprot_ac": "Q8CFI5",
            "uniprot_id": "SYPM_MOUSE",
            "refseq_ac": "NP_001272713",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable proline--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.15",
                    "type": "synonym"
                },
                {
                    "name": "ProRS",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "class II tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "proRS",
                    "type": "synonym"
                },
                {
                    "name": "probable proline--tRNA ligase, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable proline--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable prolyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "proline--tRNA ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pars2",
                    "type": "recommended"
                },
                {
                    "name": "Pars2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CFI5-1",
            "evidence": [
                {
                    "id": "0112211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7L3T8-1",
            "uniprot_ac": "Q7L3T8",
            "uniprot_id": "SYPM_HUMAN",
            "refseq_ac": "NP_689481",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable proline--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.15",
                    "type": "synonym"
                },
                {
                    "name": "ProRS",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl-tRNA synthetase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "probable proline--tRNA ligase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "proline tRNA ligase 2, mitochondrial (putative)",
                    "type": "synonym"
                },
                {
                    "name": "prolyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PARS2",
                    "type": "recommended"
                },
                {
                    "name": "DEE75",
                    "type": "synonym"
                },
                {
                    "name": "EIEE75",
                    "type": "synonym"
                },
                {
                    "name": "MT-PRORS",
                    "type": "synonym"
                },
                {
                    "name": "PARS2",
                    "type": "synonym"
                },
                {
                    "name": "proRS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7L3T8-1",
            "evidence": [
                {
                    "id": "618437",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618437"
                },
                {
                    "id": "0112211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39965-1",
            "uniprot_ac": "P39965",
            "uniprot_id": "SYPM_YEAST",
            "refseq_ac": "NP_011010",
            "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": "Probable proline--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.15",
                    "type": "synonym"
                },
                {
                    "name": "Altered inheritance rate of mitochondria protein 10",
                    "type": "synonym"
                },
                {
                    "name": "ProRS",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "putative proline--tRNA ligase AIM10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AIM10",
                    "type": "recommended"
                },
                {
                    "name": "AIM10",
                    "type": "synonym"
                }
            ],
            "record_id": "P39965-1",
            "evidence": [
                {
                    "id": "0112211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M7W7-1",
            "uniprot_ac": "Q5M7W7",
            "uniprot_id": "SYPM_RAT",
            "refseq_ac": "NP_001014086",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable proline--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.15",
                    "type": "synonym"
                },
                {
                    "name": "ProRS",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl-tRNA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "proRS",
                    "type": "synonym"
                },
                {
                    "name": "probable proline--tRNA ligase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "probable proline--tRNA ligase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable prolyl-tRNA synthetase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "proline--tRNA ligase",
                    "type": "synonym"
                },
                {
                    "name": "prolyl-tRNA synthetase (mitochondrial)(putative)",
                    "type": "synonym"
                },
                {
                    "name": "prolyl-tRNA synthetase 2, mitochondrial (putative)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pars2",
                    "type": "recommended"
                },
                {
                    "name": "Pars2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305345",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M7W7-1",
            "evidence": [
                {
                    "id": "0112211",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112211"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZY9-1",
            "uniprot_ac": "Q9VZY9",
            "uniprot_id": "Q9VZY9_DROME",
            "refseq_ac": "NP_647737",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable proline--tRNA ligase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.1.1.15",
                    "type": "synonym"
                },
                {
                    "name": "CG12186-PA",
                    "type": "synonym"
                },
                {
                    "name": "ProRS-m-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl-tRNA synthetase, mitochondrial, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl-tRNA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ProRS-m",
                    "type": "recommended"
                },
                {
                    "name": "Aats-pro",
                    "type": "synonym"
                },
                {
                    "name": "CG12186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12186",
                    "type": "synonym"
                },
                {
                    "name": "PRS",
                    "type": "synonym"
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                {
                    "name": "ProRS-m",
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                {
                    "name": "ProRS",
                    "type": "synonym"
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            ],
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                    "id": "0112211",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0112211"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112211"
}