{
    "disease_id": "DOID:0080433",
    "recommended_name": {
        "id": "DOID:0080433",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080433",
        "name": "developmental and epileptic encephalopathy 51",
        "description": "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080433",
            "name": "DEE51",
            "description": ""
        },
        {
            "id": "DOID:0080433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080433",
            "name": "early infantile epileptic encephalopathy 51",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "developmental and epileptic encephalopathy, 51",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene."
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "DEE51",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "EIEE51",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "MDH2 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "developmental and epileptic encephalopathy 51",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "early infantile epileptic encephalopathy caused by mutation in MDH2",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "epileptic encephalopathy, early infantile, 51",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "epileptic encephalopathy, early infantile, 51; EIEE51",
            "description": ""
        },
        {
            "id": "MONDO:0015025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "name": "epileptic encephalopathy, early infantile, type 51",
            "description": ""
        },
        {
            "id": "MIM:617339",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617339",
            "name": "Developmental and epileptic encephalopathy 51",
            "description": "Developmental and epileptic encephalopathy 51"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080433"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080433",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080433",
            "categories": []
        },
        {
            "id": "MONDO:0015025",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015025",
            "categories": []
        },
        {
            "id": "MIM:617339",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617339",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P08249-1",
            "uniprot_ac": "P08249",
            "uniprot_id": "MDHM_MOUSE",
            "refseq_ac": "NP_032643",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial malate dehydrogenase 2, NAD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdh2",
                    "type": "recommended"
                },
                {
                    "name": "MDH",
                    "type": "synonym"
                },
                {
                    "name": "Mdh-2",
                    "type": "synonym"
                },
                {
                    "name": "Mdh2",
                    "type": "synonym"
                },
                {
                    "name": "Mor-1",
                    "type": "synonym"
                },
                {
                    "name": "Mor1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08249-1",
            "evidence": [
                {
                    "id": "0080433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40926-1",
            "uniprot_ac": "P40926",
            "uniprot_id": "MDHM_HUMAN",
            "refseq_ac": "NP_001269332",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 2, NAD (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 120",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MDH2",
                    "type": "recommended"
                },
                {
                    "name": "DEE51",
                    "type": "synonym"
                },
                {
                    "name": "EIEE51",
                    "type": "synonym"
                },
                {
                    "name": "M-MDH",
                    "type": "synonym"
                },
                {
                    "name": "MDH2",
                    "type": "synonym"
                },
                {
                    "name": "MDH",
                    "type": "synonym"
                },
                {
                    "name": "MGC:3559",
                    "type": "synonym"
                },
                {
                    "name": "MOR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40926-1",
            "evidence": [
                {
                    "id": "617339",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617339"
                },
                {
                    "id": "0080433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17505-1",
            "uniprot_ac": "P17505",
            "uniprot_id": "MDHM_YEAST",
            "refseq_ac": "NP_012838",
            "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": "Malate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase MDH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MDH1",
                    "type": "recommended"
                },
                {
                    "name": "MDH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P17505-1",
            "evidence": [
                {
                    "id": "0080433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22133-1",
            "uniprot_ac": "P22133",
            "uniprot_id": "MDHC_YEAST",
            "refseq_ac": "NP_014515",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase MDH2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MDH2",
                    "type": "recommended"
                },
                {
                    "name": "MDH2",
                    "type": "synonym"
                }
            ],
            "record_id": "P22133-1",
            "evidence": [
                {
                    "id": "0080433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32419-1",
            "uniprot_ac": "P32419",
            "uniprot_id": "MDHP_YEAST",
            "refseq_ac": "NP_010205",
            "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": "Malate dehydrogenase, peroxisomal",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase MDH3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MDH3",
                    "type": "recommended"
                },
                {
                    "name": "D2468",
                    "type": "synonym"
                },
                {
                    "name": "MDH3",
                    "type": "synonym"
                }
            ],
            "record_id": "P32419-1",
            "evidence": [
                {
                    "id": "0080433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04636-1",
            "uniprot_ac": "P04636",
            "uniprot_id": "MDHM_RAT",
            "refseq_ac": "NP_112413",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 2, NAD (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdh2",
                    "type": "recommended"
                },
                {
                    "name": "Mdh2",
                    "type": "synonym"
                },
                {
                    "name": "Mor1",
                    "type": "synonym"
                }
            ],
            "record_id": "P04636-1",
            "evidence": [
                {
                    "id": "0080433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEB1-1",
            "uniprot_ac": "Q9VEB1",
            "uniprot_id": "Q9VEB1_DROME",
            "refseq_ac": "NP_650696",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "CG7998-PA",
                    "type": "synonym"
                },
                {
                    "name": "L-Malate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Mdh2-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) persistent salivary gland 7",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 2",
                    "type": "synonym"
                },
                {
                    "name": "malic DH",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial malate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-Mdh",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdh2",
                    "type": "recommended"
                },
                {
                    "name": "CG 7998",
                    "type": "synonym"
                },
                {
                    "name": "CG7998",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7998",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7998",
                    "type": "synonym"
                },
                {
                    "name": "MDH-2",
                    "type": "synonym"
                },
                {
                    "name": "MDH2",
                    "type": "synonym"
                },
                {
                    "name": "Mdh2",
                    "type": "synonym"
                },
                {
                    "name": "Mdh",
                    "type": "synonym"
                },
                {
                    "name": "l(3)psg7",
                    "type": "synonym"
                },
                {
                    "name": "mMdh",
                    "type": "synonym"
                },
                {
                    "name": "mdh2",
                    "type": "synonym"
                },
                {
                    "name": "psg7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEB1-1",
            "evidence": [
                {
                    "id": "0080433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VU28-1",
            "uniprot_ac": "Q9VU28",
            "uniprot_id": "Q9VU28_DROME",
            "refseq_ac": "NP_648615",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "CG10748-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdh2c",
                    "type": "recommended"
                },
                {
                    "name": "CG10748",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10748",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10748",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VU28-1",
            "evidence": [
                {
                    "id": "0080433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VU29-1",
            "uniprot_ac": "Q9VU29",
            "uniprot_id": "Q9VU29_DROME",
            "refseq_ac": "NP_648616",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "CG10749-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdh2b",
                    "type": "recommended"
                },
                {
                    "name": "CG10749",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10749",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10749",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VU29-1",
            "evidence": [
                {
                    "id": "0080433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080433"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080433"
}