{
    "disease_id": "DOID:0080349",
    "recommended_name": {
        "id": "DOID:0080349",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080349",
        "name": "developmental and epileptic encephalopathy 39",
        "description": "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0080349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080349",
            "name": "early infantile epileptic encephalopathy 39",
            "description": ""
        },
        {
            "id": "DOID:0080349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080349",
            "name": "epileptic encephalopathy with global cerebral demyelination",
            "description": ""
        },
        {
            "id": "DOID:0080349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080349",
            "name": "AGC1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "developmental and epileptic encephalopathy, 39",
            "description": "A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease."
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "AGC1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "DEE39",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "EIEE39",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "SLC25A12 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "early infantile epileptic encephalopathy caused by mutation in SLC25A12",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "epileptic encephalopathy with global cerebral demyelination",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "epileptic encephalopathy, early infantile, 39",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "mitochondrial aspartate-glutamate carrier 1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:612949",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612949",
            "name": "Developmental and epileptic encephalopathy 39 with leukodystrophy",
            "description": "Developmental and epileptic encephalopathy 39 with leukodystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080349"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080349",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080349",
            "categories": []
        },
        {
            "id": "MONDO:0013056",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "categories": []
        },
        {
            "id": "MIM:612949",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612949",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BH59-1",
            "uniprot_ac": "Q8BH59",
            "uniprot_id": "S2512_MOUSE",
            "refseq_ac": "NP_766024",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 25 member 12",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding mitochondrial carrier protein Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aspartate glutamate carrier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a12",
                    "type": "recommended"
                },
                {
                    "name": "2610002D09Rik",
                    "type": "synonym"
                },
                {
                    "name": "B230107K20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BH59-1",
            "evidence": [
                {
                    "id": "0080349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75746-1",
            "uniprot_ac": "O75746",
            "uniprot_id": "S2512_HUMAN",
            "refseq_ac": "NP_003696",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Araceli hiperlarga",
                    "type": "synonym"
                },
                {
                    "name": "Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "Aralar",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial aspartate glutamate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 12",
                    "type": "synonym"
                },
                {
                    "name": "araceli hiperlarga",
                    "type": "synonym"
                },
                {
                    "name": "aspartate/glutamate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium binding mitochondrial carrier superfamily member Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding mitochondrial carrier protein Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aspartate glutamate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (aspartate/glutamate carrier), member 12",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier, Aralar), member 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A12",
                    "type": "recommended"
                },
                {
                    "name": "AGC1",
                    "type": "synonym"
                },
                {
                    "name": "ARALAR1",
                    "type": "synonym"
                },
                {
                    "name": "ARALAR",
                    "type": "synonym"
                },
                {
                    "name": "DEE39",
                    "type": "synonym"
                },
                {
                    "name": "EIEE39",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A12",
                    "type": "synonym"
                }
            ],
            "record_id": "O75746-1",
            "evidence": [
                {
                    "id": "612949",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612949"
                },
                {
                    "id": "0080349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12482-1",
            "uniprot_ac": "Q12482",
            "uniprot_id": "AGC1_YEAST",
            "refseq_ac": "NP_015346",
            "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": "Mitochondrial aspartate-glutamate transporter AGC1",
                    "type": "recommended"
                },
                {
                    "name": "Aspartate-glutamate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "citrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AGC1",
                    "type": "recommended"
                },
                {
                    "name": "AGC1",
                    "type": "synonym"
                },
                {
                    "name": "YP9367.01C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12482-1",
            "evidence": [
                {
                    "id": "0080349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LX07-1",
            "uniprot_ac": "F1LX07",
            "uniprot_id": "S2512_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 25 member 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a12",
                    "type": "recommended"
                }
            ],
            "record_id": "F1LX07-1",
            "evidence": [
                {
                    "id": "0080349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080349"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VA73-1",
            "uniprot_ac": "Q9VA73",
            "uniprot_id": "CMC_DROME",
            "refseq_ac": "NP_001247368",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic aspartate/glutamate antiporter Aralar, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "CG2139-PE",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial aspartate/glutamate carrier protein Aralar",
                    "type": "synonym"
                },
                {
                    "name": "aralar1, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "aralar1-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aralar",
                    "type": "recommended"
                },
                {
                    "name": "AGC",
                    "type": "synonym"
                },
                {
                    "name": "Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "Aralar",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH07418",
                    "type": "synonym"
                },
                {
                    "name": "CABP1",
                    "type": "synonym"
                },
                {
                    "name": "CG2139",
                    "type": "synonym"
                },
                {
                    "name": "DmAralar",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2139",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2139",
                    "type": "synonym"
                },
                {
                    "name": "aralar1",
                    "type": "synonym"
                },
                {
                    "name": "aralar",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VA73-1",
            "evidence": [
                {
                    "id": "0080349",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080349"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080349"
}