{
    "disease_id": "DOID:0070512",
    "recommended_name": {
        "id": "DOID:0070512",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070512",
        "name": "neurodevelopmental disorder with hypotonia and speech delay",
        "description": "A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070512",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070512",
            "name": "NEDHSS",
            "description": ""
        },
        {
            "id": "MONDO:0957541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957541",
            "name": "neurodevelopmental disorder with hypotonia and speech delay, with or without seizures",
            "description": ""
        },
        {
            "id": "MIM:620455",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620455",
            "name": "Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures",
            "description": "Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070512"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070512",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070512",
            "categories": []
        },
        {
            "id": "MONDO:0957541",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957541",
            "categories": []
        },
        {
            "id": "MIM:620455",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620455",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R166-1",
            "uniprot_ac": "F1R166",
            "uniprot_id": "F1R166_DANRE",
            "refseq_ac": "NP_998616",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA helicase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic initiation factor 4A-II",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 4A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eif4a2",
                    "type": "recommended"
                },
                {
                    "name": "eif4a2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd50g11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63783",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R166-1",
            "evidence": [
                {
                    "id": "0070512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10630-1",
            "uniprot_ac": "P10630",
            "uniprot_id": "IF4A2_MOUSE",
            "refseq_ac": "NP_001116509",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic initiation factor 4A-II",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase eIF4A-2",
                    "type": "synonym"
                },
                {
                    "name": "eIF-4A-II",
                    "type": "synonym"
                },
                {
                    "name": "eIF4A-II",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic initiation factor 4A-II isoform b",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic initiation factor 4A-II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif4a2",
                    "type": "recommended"
                },
                {
                    "name": "4833432N07Rik",
                    "type": "synonym"
                },
                {
                    "name": "BM-010",
                    "type": "synonym"
                },
                {
                    "name": "Ddx2b",
                    "type": "synonym"
                },
                {
                    "name": "Eif4a2",
                    "type": "synonym"
                },
                {
                    "name": "Eif4",
                    "type": "synonym"
                },
                {
                    "name": "eIF-4A-II",
                    "type": "synonym"
                },
                {
                    "name": "eIF4A-II",
                    "type": "synonym"
                }
            ],
            "record_id": "P10630-1",
            "evidence": [
                {
                    "id": "0070512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14240-1",
            "uniprot_ac": "Q14240",
            "uniprot_id": "IF4A2_HUMAN",
            "refseq_ac": "NP_001958",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic initiation factor 4A-II",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase eIF4A-2",
                    "type": "synonym"
                },
                {
                    "name": "eIF-4A-II",
                    "type": "synonym"
                },
                {
                    "name": "eIF4A-II",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic initiation factor 4A-II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF4A2",
                    "type": "recommended"
                },
                {
                    "name": "BM-010",
                    "type": "synonym"
                },
                {
                    "name": "DDX2B",
                    "type": "synonym"
                },
                {
                    "name": "EIF4A2",
                    "type": "synonym"
                },
                {
                    "name": "EIF4A",
                    "type": "synonym"
                },
                {
                    "name": "EIF4F",
                    "type": "synonym"
                },
                {
                    "name": "NEDHSS",
                    "type": "synonym"
                },
                {
                    "name": "eIF-4A-II",
                    "type": "synonym"
                },
                {
                    "name": "eIF4A-II",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14240-1",
            "evidence": [
                {
                    "id": "620455",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620455"
                },
                {
                    "id": "0070512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10081-1",
            "uniprot_ac": "P10081",
            "uniprot_id": "IF4A_YEAST",
            "refseq_ac": "NP_012397",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase eIF4A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic initiation factor 4A",
                    "type": "synonym"
                },
                {
                    "name": "Stimulator factor I 37 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "Translation initiation factor 1/2",
                    "type": "synonym"
                },
                {
                    "name": "eIF-4A",
                    "type": "synonym"
                },
                {
                    "name": "p37",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF4A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIF1",
                    "type": "recommended"
                },
                {
                    "name": "TIF2",
                    "type": "recommended"
                },
                {
                    "name": "J0660",
                    "type": "synonym"
                },
                {
                    "name": "TIF2",
                    "type": "synonym"
                },
                {
                    "name": "TIF41A",
                    "type": "synonym"
                },
                {
                    "name": "TIF41B",
                    "type": "synonym"
                }
            ],
            "record_id": "P10081-1",
            "evidence": [
                {
                    "id": "0070512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RKI1-1",
            "uniprot_ac": "Q5RKI1",
            "uniprot_id": "IF4A2_RAT",
            "refseq_ac": "NP_001008336",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic initiation factor 4A-II",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase eIF4A-2",
                    "type": "synonym"
                },
                {
                    "name": "eIF-4A-II",
                    "type": "synonym"
                },
                {
                    "name": "eIF4A-II",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic initiation factor 4A-II",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 4A",
                    "type": "synonym"
                },
                {
                    "name": "protein synthesis initiation factor 4AII",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif4a2",
                    "type": "recommended"
                },
                {
                    "name": "Eif4a2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RKI1-1",
            "evidence": [
                {
                    "id": "0070512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20786-1",
            "uniprot_ac": "P20786",
            "uniprot_id": "PGFRA_RAT",
            "refseq_ac": "NP_036934",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Platelet-derived growth factor receptor alpha",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-type platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "CD140 antigen-like family member A",
                    "type": "synonym"
                },
                {
                    "name": "PDGF-R-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PDGFR-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Platelet-derived growth factor alpha receptor",
                    "type": "synonym"
                },
                {
                    "name": "alpha platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-type platelet-derived growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "platelet derived growth factor receptor, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor alpha receptor",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor alpha precursor",
                    "type": "synonym"
                },
                {
                    "name": "platelet-derived growth factor receptor alpha-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdgfra",
                    "type": "recommended"
                },
                {
                    "name": "APDGFR",
                    "type": "synonym"
                },
                {
                    "name": "PDGFACE",
                    "type": "synonym"
                },
                {
                    "name": "Pdgfra",
                    "type": "synonym"
                }
            ],
            "record_id": "P20786-1",
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                {
                    "id": "0070512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02748-1",
            "uniprot_ac": "Q02748",
            "uniprot_id": "IF4A_DROME",
            "refseq_ac": "NP_001245907",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic initiation factor 4A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase eIF4A",
                    "type": "synonym"
                },
                {
                    "name": "CG9075-PE",
                    "type": "synonym"
                },
                {
                    "name": "eIF4A-PE",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic initiation factor 4A",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 4A, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor 4A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eIF4A",
                    "type": "recommended"
                },
                {
                    "name": "2439",
                    "type": "synonym"
                },
                {
                    "name": "9075",
                    "type": "synonym"
                },
                {
                    "name": "CG9075",
                    "type": "synonym"
                },
                {
                    "name": "Dm-eIF4A",
                    "type": "synonym"
                },
                {
                    "name": "DmRH2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9075",
                    "type": "synonym"
                },
                {
                    "name": "EIF-4A",
                    "type": "synonym"
                },
                {
                    "name": "EIF-4a",
                    "type": "synonym"
                },
                {
                    "name": "EIF4A",
                    "type": "synonym"
                },
                {
                    "name": "EiF4A",
                    "type": "synonym"
                },
                {
                    "name": "Eif-4a",
                    "type": "synonym"
                },
                {
                    "name": "Eif4a",
                    "type": "synonym"
                },
                {
                    "name": "L(2L)162",
                    "type": "synonym"
                },
                {
                    "name": "Su(dpp)YE9",
                    "type": "synonym"
                },
                {
                    "name": "anon-26Aa",
                    "type": "synonym"
                },
                {
                    "name": "anon26A",
                    "type": "synonym"
                },
                {
                    "name": "deIF4A",
                    "type": "synonym"
                },
                {
                    "name": "eIF 4A",
                    "type": "synonym"
                },
                {
                    "name": "eIF-4A",
                    "type": "synonym"
                },
                {
                    "name": "eIF-4a-I",
                    "type": "synonym"
                },
                {
                    "name": "eIF-4a",
                    "type": "synonym"
                },
                {
                    "name": "eIF4A-I",
                    "type": "synonym"
                },
                {
                    "name": "eIF4AI",
                    "type": "synonym"
                },
                {
                    "name": "eIF4A",
                    "type": "synonym"
                },
                {
                    "name": "eIF4a",
                    "type": "synonym"
                },
                {
                    "name": "eiF4A",
                    "type": "synonym"
                },
                {
                    "name": "eif-4a",
                    "type": "synonym"
                },
                {
                    "name": "eif4A",
                    "type": "synonym"
                },
                {
                    "name": "eif4a",
                    "type": "synonym"
                },
                {
                    "name": "l(2)02439",
                    "type": "synonym"
                },
                {
                    "name": "l(2)162",
                    "type": "synonym"
                },
                {
                    "name": "l(2)26Ac",
                    "type": "synonym"
                },
                {
                    "name": "l(2)gdh-4",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k01501",
                    "type": "synonym"
                },
                {
                    "name": "l(2L)162",
                    "type": "synonym"
                },
                {
                    "name": "pecan",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02748-1",
            "evidence": [
                {
                    "id": "0070512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070512"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070512"
}