{
    "disease_id": "DOID:0112222",
    "recommended_name": {
        "id": "DOID:0112222",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112222",
        "name": "developmental and epileptic encephalopathy 88",
        "description": "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15."
    },
    "synonyms": [
        {
            "id": "DOID:0112222",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112222",
            "name": "DEE88",
            "description": ""
        },
        {
            "id": "DOID:0112222",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112222",
            "name": "early infantile epileptic encephalopathy 88",
            "description": ""
        },
        {
            "id": "MONDO:0030072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030072",
            "name": "developmental and epileptic encephalopathy, 88",
            "description": ""
        },
        {
            "id": "MONDO:0030072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030072",
            "name": "DEE88",
            "description": ""
        },
        {
            "id": "MONDO:0030072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030072",
            "name": "EIEE88",
            "description": ""
        },
        {
            "id": "MONDO:0030072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030072",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88",
            "description": ""
        },
        {
            "id": "MONDO:0030072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030072",
            "name": "developmental and epileptic encephalopathy 88",
            "description": ""
        },
        {
            "id": "MONDO:0030072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030072",
            "name": "epileptic encephalopathy, early infantile, 88",
            "description": ""
        },
        {
            "id": "MIM:618959",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618959",
            "name": "Developmental and epileptic encephalopathy 88",
            "description": "Developmental and epileptic encephalopathy 88"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112222"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112222",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112222",
            "categories": []
        },
        {
            "id": "MONDO:0030072",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030072",
            "categories": []
        },
        {
            "id": "MIM:618959",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618959",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P861-1",
            "uniprot_ac": "A0A8M1P861",
            "uniprot_id": "A0A8M1P861_DANRE",
            "refseq_ac": "NP_001303854",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "MDH1b",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 1Aa, NAD (soluble) isoform mdh1x",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 1a, NAD (soluble)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mdh1aa",
                    "type": "recommended"
                },
                {
                    "name": "MDH1",
                    "type": "synonym"
                },
                {
                    "name": "fj05b08",
                    "type": "synonym"
                },
                {
                    "name": "mdh1aa",
                    "type": "synonym"
                },
                {
                    "name": "mdh1a",
                    "type": "synonym"
                },
                {
                    "name": "mdhA",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj05b08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63941",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P861-1",
            "evidence": [
                {
                    "id": "0112222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB13A3G5-1",
            "uniprot_ac": "A0AB13A3G5",
            "uniprot_id": "A0AB13A3G5_DANRE",
            "refseq_ac": "NP_001342472",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "MDH1a",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 1, NAD (soluble)",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 1Ab, NAD (soluble) isoform mdh1x",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 1b, NAD (soluble)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mdh1ab",
                    "type": "recommended"
                },
                {
                    "name": "fk59d03",
                    "type": "synonym"
                },
                {
                    "name": "mdh1ab",
                    "type": "synonym"
                },
                {
                    "name": "mdh1b",
                    "type": "synonym"
                },
                {
                    "name": "mdh1",
                    "type": "synonym"
                },
                {
                    "name": "mdhB",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk59d03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56234",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A3G5-1",
            "evidence": [
                {
                    "id": "0112222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14152-1",
            "uniprot_ac": "P14152",
            "uniprot_id": "MDHC_MOUSE",
            "refseq_ac": "NP_001303604",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "Aromatic alpha-keto acid reductase",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic malate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "KAR",
                    "type": "synonym"
                },
                {
                    "name": "aromatic alpha-keto acid reductase",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic malate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, peroxisomal isoform Mdh1x",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, peroxisomal",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, soluble",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdh1",
                    "type": "recommended"
                },
                {
                    "name": "B230377B03Rik",
                    "type": "synonym"
                },
                {
                    "name": "KAR",
                    "type": "synonym"
                },
                {
                    "name": "MDH-s",
                    "type": "synonym"
                },
                {
                    "name": "MDHA",
                    "type": "synonym"
                },
                {
                    "name": "Mdh1",
                    "type": "synonym"
                },
                {
                    "name": "Mor-2",
                    "type": "synonym"
                },
                {
                    "name": "Mor2",
                    "type": "synonym"
                }
            ],
            "record_id": "P14152-1",
            "evidence": [
                {
                    "id": "0112222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40925-1",
            "uniprot_ac": "P40925",
            "uniprot_id": "MDHC_HUMAN",
            "refseq_ac": "NP_001186040",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "Aromatic alpha-keto acid reductase",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic malate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "KAR",
                    "type": "synonym"
                },
                {
                    "name": "aromatic alpha-keto acid reductase",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic malate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "diiodophenylpyruvate reductase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 32",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 1, NAD (soluble)",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, cytoplasmic isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, peroxisomal",
                    "type": "synonym"
                },
                {
                    "name": "soluble malate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MDH1",
                    "type": "recommended"
                },
                {
                    "name": "DEE88",
                    "type": "synonym"
                },
                {
                    "name": "EIEE88",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-32",
                    "type": "synonym"
                },
                {
                    "name": "KAR",
                    "type": "synonym"
                },
                {
                    "name": "MDH-s",
                    "type": "synonym"
                },
                {
                    "name": "MDH1",
                    "type": "synonym"
                },
                {
                    "name": "MDHA",
                    "type": "synonym"
                },
                {
                    "name": "MGC:1375",
                    "type": "synonym"
                },
                {
                    "name": "MOR2",
                    "type": "synonym"
                }
            ],
            "record_id": "P40925-1",
            "evidence": [
                {
                    "id": "618959",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618959"
                },
                {
                    "id": "0112222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88989-1",
            "uniprot_ac": "O88989",
            "uniprot_id": "MDHC_RAT",
            "refseq_ac": "NP_150238",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malate dehydrogenase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.37",
                    "type": "synonym"
                },
                {
                    "name": "Aromatic alpha-keto acid reductase",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic malate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "KAR",
                    "type": "synonym"
                },
                {
                    "name": "Malate dehydrogenase-like enzyme",
                    "type": "synonym"
                },
                {
                    "name": "aromatic alpha-keto acid reductase",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic malate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 1, NAD (soluble)",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, cytoplasmic isoform Mdh1",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, peroxisomal",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase, soluble",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdh1",
                    "type": "recommended"
                },
                {
                    "name": "KAR",
                    "type": "synonym"
                },
                {
                    "name": "MDL1",
                    "type": "synonym"
                },
                {
                    "name": "Mdh1",
                    "type": "synonym"
                },
                {
                    "name": "Mdhl",
                    "type": "synonym"
                },
                {
                    "name": "Mdh",
                    "type": "synonym"
                },
                {
                    "name": "Mor2",
                    "type": "synonym"
                }
            ],
            "record_id": "O88989-1",
            "evidence": [
                {
                    "id": "0112222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKX2-1",
            "uniprot_ac": "Q9VKX2",
            "uniprot_id": "Q9VKX2_DROME",
            "refseq_ac": "NP_001285803",
            "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": "CG5362-PB",
                    "type": "synonym"
                },
                {
                    "name": "Mdh1-PB",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic Mdh",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic malate dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "malate dehydrogenase 1",
                    "type": "synonym"
                },
                {
                    "name": "malic DH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mdh1",
                    "type": "recommended"
                },
                {
                    "name": "CG5362",
                    "type": "synonym"
                },
                {
                    "name": "CT17038",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5362",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5362",
                    "type": "synonym"
                },
                {
                    "name": "MDH-1",
                    "type": "synonym"
                },
                {
                    "name": "MDH1",
                    "type": "synonym"
                },
                {
                    "name": "MDH",
                    "type": "synonym"
                },
                {
                    "name": "Mdh-1",
                    "type": "synonym"
                },
                {
                    "name": "Mdh1",
                    "type": "synonym"
                },
                {
                    "name": "Mdh2",
                    "type": "synonym"
                },
                {
                    "name": "MdhD",
                    "type": "synonym"
                },
                {
                    "name": "Mdh",
                    "type": "synonym"
                },
                {
                    "name": "Q9VKX2",
                    "type": "synonym"
                },
                {
                    "name": "cMdh",
                    "type": "synonym"
                },
                {
                    "name": "sMdh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKX2-1",
            "evidence": [
                {
                    "id": "0112222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16828-1",
            "uniprot_ac": "Q16828",
            "uniprot_id": "DUS6_HUMAN",
            "refseq_ac": "NP_001937",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity protein phosphatase 6",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Dual specificity protein phosphatase PYST1",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "MKP-3",
                    "type": "synonym"
                },
                {
                    "name": "Mitogen-activated protein kinase phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity protein phosphatase 6 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity protein phosphatase PYST1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine specific protein phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DUSP6",
                    "type": "recommended"
                },
                {
                    "name": "DUSP6",
                    "type": "synonym"
                },
                {
                    "name": "HH19",
                    "type": "synonym"
                },
                {
                    "name": "MKP3",
                    "type": "synonym"
                },
                {
                    "name": "PYST1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16828-1",
            "evidence": [
                {
                    "id": "0112222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112222"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112222"
}