{
    "disease_id": "DOID:0070387",
    "recommended_name": {
        "id": "DOID:0070387",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070387",
        "name": "developmental and epileptic encephalopathy 101",
        "description": "A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0070387",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070387",
            "name": "DEE101",
            "description": ""
        },
        {
            "id": "DOID:0070387",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070387",
            "name": "early infantile epileptic encephalopathy 101",
            "description": ""
        },
        {
            "id": "MONDO:0030727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030727",
            "name": "developmental and epileptic encephalopathy 101",
            "description": ""
        },
        {
            "id": "MONDO:0030727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030727",
            "name": "DEE101",
            "description": ""
        },
        {
            "id": "MONDO:0030727",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030727",
            "name": "developmental and epileptic encephalopathy 101",
            "description": ""
        },
        {
            "id": "MIM:619814",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619814",
            "name": "Developmental and epileptic encephalopathy 101",
            "description": "Developmental and epileptic encephalopathy 101"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070387"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070387",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070387",
            "categories": []
        },
        {
            "id": "MONDO:0030727",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030727",
            "categories": []
        },
        {
            "id": "MIM:619814",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619814",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6ZM67-1",
            "uniprot_ac": "Q6ZM67",
            "uniprot_id": "Q6ZM67_DANRE",
            "refseq_ac": "NP_001137603",
            "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": "glutamate receptor ionotropic, NMDA 1b precursor",
                    "type": "synonym"
                }
            ],
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                    "name": "grin1b",
                    "type": "recommended"
                },
                {
                    "name": "NMDAR1.2",
                    "type": "synonym"
                },
                {
                    "name": "grin1b",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-1o1.1",
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                }
            ],
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                    "id": "0070387",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070387"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58IA45-1",
            "uniprot_ac": "A0AC58IA45",
            "uniprot_id": "A0AC58IA45_DANRE",
            "refseq_ac": "XP_073791110",
            "glycoprotein": "yes",
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                {
                    "name": "Danio rerio",
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Glutamate receptor",
                    "type": "recommended"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 1a isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "grin1a",
                    "type": "recommended"
                },
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                },
                {
                    "name": "grin1a",
                    "type": "synonym"
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                {
                    "name": "zgc:152678",
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                }
            ],
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                    "id": "0070387",
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                }
            ]
        },
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            "uniprot_ac": "P35438",
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            "refseq_ac": "NP_001171127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Glutamate receptor ionotropic, NMDA 1",
                    "type": "recommended"
                },
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                    "name": "GluN1",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "N-methyl-D-aspartate receptor subunit NR1",
                    "type": "synonym"
                },
                {
                    "name": "NMD-R1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate [NMDA] receptor subunit zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 1 isoform 2",
                    "type": "synonym"
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                {
                    "name": "glutamate receptor ionotropic, NMDA 1",
                    "type": "synonym"
                }
            ],
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                    "name": "Grin1",
                    "type": "recommended"
                },
                {
                    "name": "GluN1",
                    "type": "synonym"
                },
                {
                    "name": "GluRdelta1",
                    "type": "synonym"
                },
                {
                    "name": "GluRzeta1",
                    "type": "synonym"
                },
                {
                    "name": "Glurz1",
                    "type": "synonym"
                },
                {
                    "name": "Grin1",
                    "type": "synonym"
                },
                {
                    "name": "M100174",
                    "type": "synonym"
                },
                {
                    "name": "NMD-R1",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR1",
                    "type": "synonym"
                },
                {
                    "name": "NR1",
                    "type": "synonym"
                },
                {
                    "name": "Nmdar",
                    "type": "synonym"
                },
                {
                    "name": "Rgsc174",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070387",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070387"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05586-1",
            "uniprot_ac": "Q05586",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Glutamate receptor ionotropic, NMDA 1",
                    "type": "recommended"
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                    "name": "GluN1",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate [NMDA] receptor subunit zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl-D-aspartate receptor channel, subunit zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "N-methyl-D-aspartate receptor subunit NR1",
                    "type": "synonym"
                },
                {
                    "name": "NMD-R1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate [NMDA] receptor subunit zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 1 isoform GluN1-4a precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, NMDA 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, ionotropic, N-methyl D-aspartate 1",
                    "type": "synonym"
                },
                {
                    "name": "hNR1",
                    "type": "synonym"
                },
                {
                    "name": "putative NMDtranscript(altAcc_e2)",
                    "type": "synonym"
                }
            ],
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                    "name": "GRIN1",
                    "type": "recommended"
                },
                {
                    "name": "DEE101",
                    "type": "synonym"
                },
                {
                    "name": "GRIN1",
                    "type": "synonym"
                },
                {
                    "name": "GluN1",
                    "type": "synonym"
                },
                {
                    "name": "MRD8",
                    "type": "synonym"
                },
                {
                    "name": "NDHMSD",
                    "type": "synonym"
                },
                {
                    "name": "NDHMSR",
                    "type": "synonym"
                },
                {
                    "name": "NMD-R1",
                    "type": "synonym"
                },
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                    "name": "NMDA1",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR1",
                    "type": "synonym"
                },
                {
                    "name": "NR1",
                    "type": "synonym"
                },
                {
                    "name": "hNR1",
                    "type": "synonym"
                }
            ],
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                    "id": "619814",
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                },
                {
                    "id": "0070387",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35439-1",
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                {
                    "name": "Rattus norvegicus",
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                },
                {
                    "name": "N-methyl-D-aspartate glutamate receptor",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "NMD-R1",
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                },
                {
                    "name": "NMDA R1 receptor C1 cassette",
                    "type": "synonym"
                },
                {
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                {
                    "name": "glutamate receptor, ionotropic, N-methyl D-aspartate 1",
                    "type": "synonym"
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                {
                    "name": "neurotransmitter receptor",
                    "type": "synonym"
                }
            ],
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                    "id": "0070387",
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            "uniprot_canonical_ac": "Q24418-1",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
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                    "name": "NMDA receptor I",
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                    "name": "NMDA receptor",
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                {
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                },
                {
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                },
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                    "name": "DmelNmdar1",
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                {
                    "name": "Dmel\\CG2902",
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                    "name": "NMDA-R1",
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                    "name": "NMDA",
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                },
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                    "name": "NMdar1",
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                    "name": "NR1",
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                    "name": "NRI",
                    "type": "synonym"
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                    "name": "NmdaR1",
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                    "name": "Nmdar",
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                {
                    "name": "dnmdar-I",
                    "type": "synonym"
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                    "name": "dsNR1",
                    "type": "synonym"
                },
                {
                    "name": "nmdar1",
                    "type": "synonym"
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                    "name": "nmr",
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                    "name": "nr1",
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                    "id": "0070387",
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                }
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            "uniprot_canonical_ac": "Q96FC9-1",
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                    "name": "Homo sapiens",
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                    "name": "CHL1-related protein 1",
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                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)",
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                    "name": "DNA 5'-3' helicase DDX11",
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                    "name": "KRG-2",
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                {
                    "name": "Keratinocyte growth factor-regulated gene 2 protein",
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                    "name": "probable ATP-dependent DNA helicase DDX11",
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                    "name": "probable ATP-dependent RNA helicase DDX11",
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                {
                    "name": "WABS",
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            ],
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                    "id": "0070387",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070387"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070387"
}