{
    "disease_id": "DOID:0080444",
    "recommended_name": {
        "id": "DOID:0080444",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080444",
        "name": "developmental and epileptic encephalopathy 27",
        "description": "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12."
    },
    "synonyms": [
        {
            "id": "DOID:0080444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080444",
            "name": "DEE27",
            "description": ""
        },
        {
            "id": "DOID:0080444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080444",
            "name": "early infantile epileptic encephalopathy 27",
            "description": ""
        },
        {
            "id": "MONDO:0014505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014505",
            "name": "developmental and epileptic encephalopathy, 27",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene."
        },
        {
            "id": "MONDO:0014505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014505",
            "name": "DEE27",
            "description": ""
        },
        {
            "id": "MONDO:0014505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014505",
            "name": "EIEE27",
            "description": ""
        },
        {
            "id": "MONDO:0014505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014505",
            "name": "GRIN2B early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014505",
            "name": "developmental and epileptic encephalopathy 27",
            "description": ""
        },
        {
            "id": "MONDO:0014505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014505",
            "name": "early infantile epileptic encephalopathy caused by mutation in GRIN2B",
            "description": ""
        },
        {
            "id": "MONDO:0014505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014505",
            "name": "epileptic encephalopathy, early infantile, 27",
            "description": ""
        },
        {
            "id": "MONDO:0014505",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014505",
            "name": "epileptic encephalopathy, early infantile, type 27",
            "description": ""
        },
        {
            "id": "MIM:616139",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616139",
            "name": "Developmental and epileptic encephalopathy 27",
            "description": "Developmental and epileptic encephalopathy 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080444"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080444",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080444",
            "categories": []
        },
        {
            "id": "MONDO:0014505",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014505",
            "categories": []
        },
        {
            "id": "MIM:616139",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616139",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NH89-1",
            "uniprot_ac": "A0A8M1NH89",
            "uniprot_id": "A0A8M1NH89_DANRE",
            "refseq_ac": "NP_001121809",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor",
                    "type": "recommended"
                },
                {
                    "name": "NR2B.2",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, ionotropic, N-methyl D-aspartate 2B, genome duplicate b",
                    "type": "synonym"
                },
                {
                    "name": "grin2b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grin2bb",
                    "type": "recommended"
                },
                {
                    "name": "grin2bb",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-243a20.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NH89-1",
            "evidence": [
                {
                    "id": "0080444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01097-1",
            "uniprot_ac": "Q01097",
            "uniprot_id": "NMDE2_MOUSE",
            "refseq_ac": "NP_032197",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor ionotropic, NMDA 2B",
                    "type": "recommended"
                },
                {
                    "name": "GluN2B",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate [NMDA] receptor subunit epsilon-2",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl D-aspartate receptor subtype 2B",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR2B",
                    "type": "synonym"
                },
                {
                    "name": "NR2B",
                    "type": "synonym"
                },
                {
                    "name": "glutamate [NMDA] receptor subunit epsilon-2",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2B precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grin2b",
                    "type": "recommended"
                },
                {
                    "name": "GluN2B",
                    "type": "synonym"
                },
                {
                    "name": "GluRepsilon2",
                    "type": "synonym"
                },
                {
                    "name": "Grin2b",
                    "type": "synonym"
                },
                {
                    "name": "NR2B",
                    "type": "synonym"
                },
                {
                    "name": "Nmdar2b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01097-1",
            "evidence": [
                {
                    "id": "0080444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13224-1",
            "uniprot_ac": "Q13224",
            "uniprot_id": "NMDE2_HUMAN",
            "refseq_ac": "NP_000825",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor ionotropic, NMDA 2B",
                    "type": "recommended"
                },
                {
                    "name": "GluN2B(alt_5'UTR)",
                    "type": "synonym"
                },
                {
                    "name": "GluN2B",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate [NMDA] receptor subunit epsilon-2",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl D-aspartate receptor subtype 2B",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl-D-aspartate receptor subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR2B",
                    "type": "synonym"
                },
                {
                    "name": "NR2B",
                    "type": "synonym"
                },
                {
                    "name": "NR3",
                    "type": "synonym"
                },
                {
                    "name": "glutamate [NMDA] receptor subunit epsilon-2",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2B isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2B",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor subunit epsilon-2",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, ionotropic, N-methyl D-aspartate 2B",
                    "type": "synonym"
                },
                {
                    "name": "hNR3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRIN2B",
                    "type": "recommended"
                },
                {
                    "name": "DEE27",
                    "type": "synonym"
                },
                {
                    "name": "EIEE27",
                    "type": "synonym"
                },
                {
                    "name": "GRIN2B",
                    "type": "synonym"
                },
                {
                    "name": "GluN2B",
                    "type": "synonym"
                },
                {
                    "name": "MRD6",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR2B",
                    "type": "synonym"
                },
                {
                    "name": "NR2B",
                    "type": "synonym"
                },
                {
                    "name": "NR3",
                    "type": "synonym"
                },
                {
                    "name": "hNR3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13224-1",
            "evidence": [
                {
                    "id": "616139",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616139"
                },
                {
                    "id": "0080444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00960-1",
            "uniprot_ac": "Q00960",
            "uniprot_id": "NMDE2_RAT",
            "refseq_ac": "NP_036706",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor ionotropic, NMDA 2B",
                    "type": "recommended"
                },
                {
                    "name": "GluN2B",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate [NMDA] receptor subunit epsilon-2",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl D-aspartate receptor subtype 2B",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR2B",
                    "type": "synonym"
                },
                {
                    "name": "NR2B",
                    "type": "synonym"
                },
                {
                    "name": "glutamate [NMDA] receptor subunit epsilon-2",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2B precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2B",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, ionotropic, N-methyl D-aspartate 2B",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, ionotropic, NMDA2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grin2b",
                    "type": "recommended"
                },
                {
                    "name": "GluN2B",
                    "type": "synonym"
                },
                {
                    "name": "Grin2b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00960-1",
            "evidence": [
                {
                    "id": "0080444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W581-1",
            "uniprot_ac": "Q9W581",
            "uniprot_id": "Q9W581_DROME",
            "refseq_ac": "NP_001014714",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33513-PC",
                    "type": "synonym"
                },
                {
                    "name": "NMDA receptor 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "NMDA receptor",
                    "type": "synonym"
                },
                {
                    "name": "Nmdar2-PC",
                    "type": "synonym"
                },
                {
                    "name": "dNR2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nmdar2",
                    "type": "recommended"
                },
                {
                    "name": "79G8T",
                    "type": "synonym"
                },
                {
                    "name": "CG14793",
                    "type": "synonym"
                },
                {
                    "name": "CG14794",
                    "type": "synonym"
                },
                {
                    "name": "CG33513",
                    "type": "synonym"
                },
                {
                    "name": "CT34603",
                    "type": "synonym"
                },
                {
                    "name": "DmelNmdar2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33513",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33513",
                    "type": "synonym"
                },
                {
                    "name": "DrNR2",
                    "type": "synonym"
                },
                {
                    "name": "EG:80H7.7",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:79G8T",
                    "type": "synonym"
                },
                {
                    "name": "NMDA-R2",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR2",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR",
                    "type": "synonym"
                },
                {
                    "name": "NR2",
                    "type": "synonym"
                },
                {
                    "name": "NmdaR2",
                    "type": "synonym"
                },
                {
                    "name": "Nmdar2",
                    "type": "synonym"
                },
                {
                    "name": "anon-sts34",
                    "type": "synonym"
                },
                {
                    "name": "dNR2",
                    "type": "synonym"
                },
                {
                    "name": "dnmdar-II",
                    "type": "synonym"
                },
                {
                    "name": "dsNR2",
                    "type": "synonym"
                },
                {
                    "name": "nmdar2",
                    "type": "synonym"
                },
                {
                    "name": "nr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W581-1",
            "evidence": [
                {
                    "id": "0080444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43143-1",
            "uniprot_ac": "O43143",
            "uniprot_id": "DHX15_HUMAN",
            "refseq_ac": "NP_001349",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase DHX15",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase #46",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase DHX15",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H box-15",
                    "type": "synonym"
                },
                {
                    "name": "DEAH (Asp-Glu-Ala-His) box helicase 15",
                    "type": "synonym"
                },
                {
                    "name": "DEAH (Asp-Glu-Ala-His) box polypeptide 15",
                    "type": "synonym"
                },
                {
                    "name": "DEAH box protein 15",
                    "type": "synonym"
                },
                {
                    "name": "RNA helicase 2",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor Prp43",
                    "type": "synonym"
                },
                {
                    "name": "hPrp43",
                    "type": "synonym"
                },
                {
                    "name": "putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor Prp43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DHX15",
                    "type": "recommended"
                },
                {
                    "name": "DBP1",
                    "type": "synonym"
                },
                {
                    "name": "DDX15",
                    "type": "synonym"
                },
                {
                    "name": "DHX15",
                    "type": "synonym"
                },
                {
                    "name": "PRP43",
                    "type": "synonym"
                },
                {
                    "name": "PRPF43",
                    "type": "synonym"
                },
                {
                    "name": "PrPp43p",
                    "type": "synonym"
                },
                {
                    "name": "hPrp43",
                    "type": "synonym"
                }
            ],
            "record_id": "O43143-1",
            "evidence": [
                {
                    "id": "0080444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080444"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080444"
}