{
    "disease_id": "DOID:0070739",
    "recommended_name": {
        "id": "DOID:0070739",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070739",
        "name": "autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures",
        "description": "An autosomal recessive intellectual developmental disorder characterized by severely delayed psychomotor development, severely impaired intellectual development, and involuntary movements, including stereotypic movements, spasticity, and dystonia that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0070739",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070739",
            "name": "NDHMSR",
            "description": ""
        },
        {
            "id": "MONDO:0060629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060629",
            "name": "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0060629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060629",
            "name": "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0060629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060629",
            "name": "NDHMSR",
            "description": ""
        },
        {
            "id": "MIM:617820",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617820",
            "name": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive",
            "description": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070739"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070739",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070739",
            "categories": []
        },
        {
            "id": "MONDO:0060629",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060629",
            "categories": []
        },
        {
            "id": "MIM:617820",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617820",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q05586-1",
            "uniprot_ac": "Q05586",
            "uniprot_id": "NMDZ1_HUMAN",
            "refseq_ac": "NP_000823",
            "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 1",
                    "type": "recommended"
                },
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "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"
                },
                {
                    "name": "NMDA1",
                    "type": "synonym"
                },
                {
                    "name": "NMDAR1",
                    "type": "synonym"
                },
                {
                    "name": "NR1",
                    "type": "synonym"
                },
                {
                    "name": "hNR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05586-1",
            "evidence": [
                {
                    "id": "617820",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617820"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070739"
}