{
    "disease_id": "DOID:0070068",
    "recommended_name": {
        "id": "DOID:0070068",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070068",
        "name": "autosomal dominant intellectual developmental disorder 38",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33."
    },
    "synonyms": [
        {
            "id": "DOID:0070068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070068",
            "name": "MRD38",
            "description": ""
        },
        {
            "id": "DOID:0070068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070068",
            "name": "PRELDS",
            "description": ""
        },
        {
            "id": "DOID:0070068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070068",
            "name": "autosomal dominant mental retardation 38",
            "description": ""
        },
        {
            "id": "DOID:0070068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070068",
            "name": "psychomotor retardation, epilepsy, and language disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070068",
            "name": "autosomal dominant non-syndromic intellectual disability 38",
            "description": ""
        },
        {
            "id": "MONDO:0014617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014617",
            "name": "intellectual disability, autosomal dominant 38",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene."
        },
        {
            "id": "MONDO:0014617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014617",
            "name": "EEF1A2 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014617",
            "name": "MRD38",
            "description": ""
        },
        {
            "id": "MONDO:0014617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014617",
            "name": "PRELDS",
            "description": ""
        },
        {
            "id": "MONDO:0014617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014617",
            "name": "autosomal dominant intellectual disability 38",
            "description": ""
        },
        {
            "id": "MONDO:0014617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014617",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2",
            "description": ""
        },
        {
            "id": "MONDO:0014617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014617",
            "name": "intellectual disability, autosomal dominant 38",
            "description": ""
        },
        {
            "id": "MONDO:0014617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014617",
            "name": "intellectual disability, autosomal dominant type 38",
            "description": ""
        },
        {
            "id": "MONDO:0014617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014617",
            "name": "mental retardation, autosomal dominant type 38",
            "description": ""
        },
        {
            "id": "MONDO:0014617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014617",
            "name": "psychomotor retardation, epilepsy, and language disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014617",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014617",
            "name": "mental retardation, autosomal dominant 38",
            "description": ""
        },
        {
            "id": "MIM:616393",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616393",
            "name": "Intellectual developmental disorder, autosomal dominant 38",
            "description": "Intellectual developmental disorder, autosomal dominant 38"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070068"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070068",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070068",
            "categories": []
        },
        {
            "id": "MONDO:0014617",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014617",
            "categories": []
        },
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            "id": "MIM:616393",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616393",
            "categories": []
        }
    ],
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            "uniprot_ac": "P62631",
            "uniprot_id": "EF1A2_MOUSE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Elongation factor 1-alpha 2",
                    "type": "recommended"
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                    "name": "EF-1-alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic elongation factor 1 A-2",
                    "type": "synonym"
                },
                {
                    "name": "Statin-S1",
                    "type": "synonym"
                },
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                    "name": "eEF1A-2",
                    "type": "synonym"
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                {
                    "name": "elongation factor 1-alpha 2",
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                    "name": "eukaryotic elongation factor 1 A-2",
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                    "name": "statin-S1",
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                    "name": "Eef1a2",
                    "type": "recommended"
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                    "name": "EEF1AL",
                    "type": "synonym"
                },
                {
                    "name": "EF-1-alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "Eef1a2",
                    "type": "synonym"
                },
                {
                    "name": "Eef1al",
                    "type": "synonym"
                },
                {
                    "name": "Eef1a",
                    "type": "synonym"
                },
                {
                    "name": "S1",
                    "type": "synonym"
                },
                {
                    "name": "STN",
                    "type": "synonym"
                },
                {
                    "name": "Stn",
                    "type": "synonym"
                },
                {
                    "name": "wasted",
                    "type": "synonym"
                },
                {
                    "name": "wst",
                    "type": "synonym"
                }
            ],
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                    "id": "0070068",
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                }
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        },
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            "uniprot_canonical_ac": "Q05639-1",
            "uniprot_ac": "Q05639",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                }
            ],
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                {
                    "name": "Eukaryotic elongation factor 1 A-2",
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                {
                    "name": "eukaryotic elongation factor 1 A-2",
                    "type": "synonym"
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                {
                    "name": "statin-S1",
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            ],
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                    "name": "EEF1A2",
                    "type": "recommended"
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                {
                    "name": "DEE33",
                    "type": "synonym"
                },
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                },
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                    "name": "EEF1AL",
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                    "name": "EF-1-alpha-2",
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                    "name": "EF1A",
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                {
                    "name": "EIEE33",
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                },
                {
                    "name": "HS1",
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                {
                    "name": "MRD38",
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                },
                {
                    "name": "STNL",
                    "type": "synonym"
                },
                {
                    "name": "STN",
                    "type": "synonym"
                }
            ],
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                    "id": "0070068",
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            ]
        },
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            "uniprot_canonical_ac": "P02994-1",
            "uniprot_ac": "P02994",
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            "refseq_ac": "NP_009676",
            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "Elongation factor 1-alpha",
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                    "name": "EF-1-alpha",
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                    "name": "Eukaryotic elongation factor 1A",
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                {
                    "name": "Translation elongation factor 1A",
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                {
                    "name": "eEF1A",
                    "type": "synonym"
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                {
                    "name": "translation elongation factor EF-1 alpha",
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                }
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                    "name": "TEF1",
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                {
                    "name": "TEF2",
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                {
                    "name": "P9513.7",
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                {
                    "name": "TEF2",
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                {
                    "name": "YBR0913",
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                    "id": "0070068",
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                    "name": "Eukaryotic elongation factor 1 A-2",
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                    "name": "Statin-S1",
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                    "name": "Statin-like protein",
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                    "name": "elongation factor 1 A-2",
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                {
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                    "name": "statin-S1",
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                    "name": "Eef1a2",
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                    "name": "Ps10",
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                    "name": "RATPS10",
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                },
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                    "name": "Nucleophosmin",
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                    "name": "Nucleolar phosphoprotein B23",
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                    "name": "Numatrin",
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                    "name": "elongation factor 1alpha 100E",
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                    "name": "EF1alpha",
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                    "name": "EF1a",
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                    "name": "Ef1 alpha100E",
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                    "name": "Ef1a-100E",
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                    "name": "Ef1a48",
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                    "name": "Ef1alpha100E",
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                    "name": "Ef1alpha2",
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                    "name": "Efla2",
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                    "name": "F2",
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                    "name": "eEF1alpha",
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                    "name": "50 kDa female-specific protein",
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                {
                    "name": "Ef1 alpha 48D",
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                    "name": "eEF1alpha1-PD",
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                    "name": "elongation factor 1-alpha F1",
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                },
                {
                    "name": "EF-1alpha F1",
                    "type": "synonym"
                },
                {
                    "name": "EF-1alphaF1",
                    "type": "synonym"
                },
                {
                    "name": "EF-1alphaF[[1]]",
                    "type": "synonym"
                },
                {
                    "name": "EF-1alphaF",
                    "type": "synonym"
                },
                {
                    "name": "EF-1alpha",
                    "type": "synonym"
                },
                {
                    "name": "EF-1a",
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                },
                {
                    "name": "EF-1",
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                },
                {
                    "name": "EF1-alpha",
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                },
                {
                    "name": "EF11_DROME",
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                {
                    "name": "EF1A1",
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                },
                {
                    "name": "EF1B",
                    "type": "synonym"
                },
                {
                    "name": "EF1alpha 48D",
                    "type": "synonym"
                },
                {
                    "name": "EF1alpha1",
                    "type": "synonym"
                },
                {
                    "name": "EF1alpha48D",
                    "type": "synonym"
                },
                {
                    "name": "EF1alpha",
                    "type": "synonym"
                },
                {
                    "name": "EF1",
                    "type": "synonym"
                },
                {
                    "name": "EF",
                    "type": "synonym"
                },
                {
                    "name": "Ef1a10",
                    "type": "synonym"
                },
                {
                    "name": "Ef1a48D",
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                },
                {
                    "name": "Ef1alpha 48D",
                    "type": "synonym"
                },
                {
                    "name": "Ef1alpha1",
                    "type": "synonym"
                },
                {
                    "name": "Ef1alpha48D",
                    "type": "synonym"
                },
                {
                    "name": "Ef1alpha48E",
                    "type": "synonym"
                },
                {
                    "name": "Ef1",
                    "type": "synonym"
                },
                {
                    "name": "Efalpha48D",
                    "type": "synonym"
                },
                {
                    "name": "F1 EF-1alpha",
                    "type": "synonym"
                },
                {
                    "name": "F1",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.17",
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                },
                {
                    "name": "anon-EST:Liang-2.46",
                    "type": "synonym"
                },
                {
                    "name": "chr2R:7409490..7409690",
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                },
                {
                    "name": "chr2R:7410009..7410129",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.17",
                    "type": "synonym"
                },
                {
                    "name": "clone 2.46",
                    "type": "synonym"
                },
                {
                    "name": "eEF1a1",
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                {
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                },
                {
                    "name": "eEF1alpha",
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                {
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                {
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                {
                    "name": "l(2)01275",
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                },
                {
                    "name": "l(2)k07303",
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                }
            ],
            "record_id": "P08736-1",
            "evidence": [
                {
                    "id": "0070068",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070068"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070068"
}