{
    "disease_id": "DOID:0080456",
    "recommended_name": {
        "id": "DOID:0080456",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080456",
        "name": "developmental and epileptic encephalopathy 46",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080456",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080456",
            "name": "DEE46",
            "description": ""
        },
        {
            "id": "DOID:0080456",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080456",
            "name": "early infantile epileptic encephalopathy 46",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "developmental and epileptic encephalopathy, 46",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene."
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "DEE46",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "EIEE46",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "GRIN2D early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "GRIN2D-related DEE",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "GRIN2D-related complex neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "GRIN2D-related developmental and epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "developmental and epileptic encephalopathy 46",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "early infantile epileptic encephalopathy caused by mutation in GRIN2D",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "epileptic encephalopathy, early infantile, 46",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "epileptic encephalopathy, early infantile, 46; EIEE46",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "epileptic encephalopathy, early infantile, type 46",
            "description": ""
        },
        {
            "id": "MIM:617162",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617162",
            "name": "Developmental and epileptic encephalopathy 46",
            "description": "Developmental and epileptic encephalopathy 46"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080456"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080456",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080456",
            "categories": []
        },
        {
            "id": "MONDO:0014947",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "categories": []
        },
        {
            "id": "MIM:617162",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617162",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q03391-1",
            "uniprot_ac": "Q03391",
            "uniprot_id": "NMDE4_MOUSE",
            "refseq_ac": "NP_032198",
            "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 2D",
                    "type": "recommended"
                },
                {
                    "name": "GluN2D",
                    "type": "synonym"
                },
                {
                    "name": "GluRepsilon4",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate [NMDA] receptor subunit epsilon-4",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl D-aspartate receptor subtype 2D",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR2D",
                    "type": "synonym"
                },
                {
                    "name": "NR2D",
                    "type": "synonym"
                },
                {
                    "name": "glur epsilon 4",
                    "type": "synonym"
                },
                {
                    "name": "glutamate [NMDA] receptor subunit epsilon-4",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2D precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2D",
                    "type": "synonym"
                },
                {
                    "name": "ionotropic NMDA glutamate receptor epsilon 4 subunit type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grin2d",
                    "type": "recommended"
                },
                {
                    "name": "GluN2D",
                    "type": "synonym"
                },
                {
                    "name": "Grin2d",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR2D",
                    "type": "synonym"
                },
                {
                    "name": "NR2D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03391-1",
            "evidence": [
                {
                    "id": "0080456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080456"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15399-1",
            "uniprot_ac": "O15399",
            "uniprot_id": "NMDE4_HUMAN",
            "refseq_ac": "NP_000827",
            "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 2D",
                    "type": "recommended"
                },
                {
                    "name": "EB11",
                    "type": "synonym"
                },
                {
                    "name": "GluN2D",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate [NMDA] receptor subunit epsilon-4",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl D-aspartate receptor subtype 2D",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl-d-aspartate receptor subunit 2D",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR2D",
                    "type": "synonym"
                },
                {
                    "name": "NR2D",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor binding CpG island",
                    "type": "synonym"
                },
                {
                    "name": "glutamate [NMDA] receptor subunit epsilon-4",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2D precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2D",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, ionotropic, N-methyl D-aspartate 2D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRIN2D",
                    "type": "recommended"
                },
                {
                    "name": "DEE46",
                    "type": "synonym"
                },
                {
                    "name": "EB11",
                    "type": "synonym"
                },
                {
                    "name": "EIEE46",
                    "type": "synonym"
                },
                {
                    "name": "GRIN2D",
                    "type": "synonym"
                },
                {
                    "name": "GluN2D",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR2D",
                    "type": "synonym"
                },
                {
                    "name": "NR2D",
                    "type": "synonym"
                }
            ],
            "record_id": "O15399-1",
            "evidence": [
                {
                    "id": "617162",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617162"
                },
                {
                    "id": "0080456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080456"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62645-1",
            "uniprot_ac": "Q62645",
            "uniprot_id": "NMDE4_RAT",
            "refseq_ac": "NP_073634",
            "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 2D",
                    "type": "recommended"
                },
                {
                    "name": "GluN2D",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate [NMDA] receptor subunit epsilon-4",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl D-aspartate receptor subtype 2D",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR2D",
                    "type": "synonym"
                },
                {
                    "name": "NR2D",
                    "type": "synonym"
                },
                {
                    "name": "glutamate [NMDA] receptor subunit epsilon-4",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2D precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 2D",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, ionotropic, N-methyl D-aspartate 2D",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, ionotropic, NMDA2D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grin2d",
                    "type": "recommended"
                },
                {
                    "name": "GluN2D",
                    "type": "synonym"
                },
                {
                    "name": "Grin2d",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62645-1",
            "evidence": [
                {
                    "id": "0080456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080456"
                }
            ]
        },
        {
            "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": "0080456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080456"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92841-4",
            "uniprot_ac": "Q92841",
            "uniprot_id": "DDX17_HUMAN",
            "refseq_ac": "NP_006377",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable ATP-dependent RNA helicase DDX17",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (Asp-Glu-Ala-Asp) box helicase 17",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17",
                    "type": "synonym"
                },
                {
                    "name": "DEAD box protein 17",
                    "type": "synonym"
                },
                {
                    "name": "DEAD box protein p72",
                    "type": "synonym"
                },
                {
                    "name": "DEAD box protein p82",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)",
                    "type": "synonym"
                },
                {
                    "name": "RNA-dependent helicase p72",
                    "type": "synonym"
                },
                {
                    "name": "p72 RNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent RNA helicase DDX17 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent RNA helicase DDX17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDX17",
                    "type": "recommended"
                },
                {
                    "name": "DDX17",
                    "type": "synonym"
                },
                {
                    "name": "P72",
                    "type": "synonym"
                },
                {
                    "name": "RH70",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92841-4",
            "evidence": [
                {
                    "id": "0080456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080456"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080456"
}