{
    "disease_id": "DOID:0081228",
    "recommended_name": {
        "id": "DOID:0081228",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081228",
        "name": "autosomal recessive intellectual developmental disorder 67",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "MONDO:0032662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032662",
            "name": "intellectual developmental disorder, autosomal recessive 67",
            "description": ""
        },
        {
            "id": "MONDO:0032662",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032662",
            "name": "MRT67",
            "description": ""
        },
        {
            "id": "MIM:618295",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618295",
            "name": "Intellectual developmental disorder, autosomal recessive 67",
            "description": "Intellectual developmental disorder, autosomal recessive 67"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081228"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081228",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081228",
            "categories": []
        },
        {
            "id": "MONDO:0032662",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032662",
            "categories": []
        },
        {
            "id": "MIM:618295",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618295",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NXK7-1",
            "uniprot_ac": "A0A8M1NXK7",
            "uniprot_id": "A0A8M1NXK7_DANRE",
            "refseq_ac": "NP_001186938",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit F",
                    "type": "recommended"
                },
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "eIF3f",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3 subunit F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eif3f",
                    "type": "recommended"
                },
                {
                    "name": "EIF3F",
                    "type": "synonym"
                },
                {
                    "name": "EIF3S5",
                    "type": "synonym"
                },
                {
                    "name": "eif3f",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-58j19.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NXK7-1",
            "evidence": [
                {
                    "id": "0081228",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081228"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DCH4-1",
            "uniprot_ac": "Q9DCH4",
            "uniprot_id": "EIF3F_MOUSE",
            "refseq_ac": "NP_079620",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit F",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme eIF3f",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme eIF3f",
                    "type": "synonym"
                },
                {
                    "name": "eIF-3-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF3 p47",
                    "type": "synonym"
                },
                {
                    "name": "eIF3f",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3 subunit F",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3, subunit 5 (epsilon)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif3f",
                    "type": "recommended"
                },
                {
                    "name": "0610037M02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Eif3f",
                    "type": "synonym"
                },
                {
                    "name": "Eif3s5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DCH4-1",
            "evidence": [
                {
                    "id": "0081228",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081228"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00303-1",
            "uniprot_ac": "O00303",
            "uniprot_id": "EIF3F_HUMAN",
            "refseq_ac": "NP_003745",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit F",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme eIF3f",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme eIF3f",
                    "type": "synonym"
                },
                {
                    "name": "eIF-3-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF3 p47",
                    "type": "synonym"
                },
                {
                    "name": "eIF3-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF3f",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3 subunit F",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3, subunit 5 (epsilon, 47kD)",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF3F",
                    "type": "recommended"
                },
                {
                    "name": "EIF3F",
                    "type": "synonym"
                },
                {
                    "name": "EIF3S5",
                    "type": "synonym"
                },
                {
                    "name": "MRT67",
                    "type": "synonym"
                },
                {
                    "name": "eIF3-p47",
                    "type": "synonym"
                }
            ],
            "record_id": "O00303-1",
            "evidence": [
                {
                    "id": "618295",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618295"
                },
                {
                    "id": "0081228",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081228"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AC36-1",
            "uniprot_ac": "D4AC36",
            "uniprot_id": "D4AC36_RAT",
            "refseq_ac": "NP_001264231",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit F",
                    "type": "recommended"
                },
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "eIF-3-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF3 p47",
                    "type": "synonym"
                },
                {
                    "name": "eIF3f",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3 subunit F",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3, subunit 5 (epsilon)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif3f",
                    "type": "recommended"
                },
                {
                    "name": "EIF3F",
                    "type": "synonym"
                },
                {
                    "name": "EIF3S5",
                    "type": "synonym"
                },
                {
                    "name": "Eif3f",
                    "type": "synonym"
                },
                {
                    "name": "Eif3s5",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AC36-1",
            "evidence": [
                {
                    "id": "0081228",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081228"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62849-1",
            "uniprot_ac": "Q62849",
            "uniprot_id": "PCSK7_RAT",
            "refseq_ac": "NP_062119",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proprotein convertase subtilisin/kexin type 7",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "PC7",
                    "type": "synonym"
                },
                {
                    "name": "Prohormone convertase 7",
                    "type": "synonym"
                },
                {
                    "name": "Proprotein convertase 7",
                    "type": "synonym"
                },
                {
                    "name": "Subtilisin/kexin-like protease PC7",
                    "type": "synonym"
                },
                {
                    "name": "prohormone convertase 7",
                    "type": "synonym"
                },
                {
                    "name": "prohormone convertase PC7",
                    "type": "synonym"
                },
                {
                    "name": "proprotein convertase 7",
                    "type": "synonym"
                },
                {
                    "name": "proprotein convertase PC7",
                    "type": "synonym"
                },
                {
                    "name": "proprotein convertase subtilisin/kexin type 7 precursor",
                    "type": "synonym"
                },
                {
                    "name": "rPC7",
                    "type": "synonym"
                },
                {
                    "name": "subtilisin/kexin-like protease PC7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcsk7",
                    "type": "recommended"
                },
                {
                    "name": "PC7",
                    "type": "synonym"
                },
                {
                    "name": "Pc7",
                    "type": "synonym"
                },
                {
                    "name": "Pcsk7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62849-1",
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                {
                    "id": "0081228",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081228"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VN50-1",
            "uniprot_ac": "Q9VN50",
            "uniprot_id": "EI3F1_DROME",
            "refseq_ac": "NP_649489",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit F-1",
                    "type": "recommended"
                },
                {
                    "name": "CG9769-PA",
                    "type": "synonym"
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                {
                    "name": "Eukaryotic translation initiation factor 3 subunit 5-1",
                    "type": "synonym"
                },
                {
                    "name": "eIF3f-1",
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                },
                {
                    "name": "eIF3f1-PA",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3 subunit f1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eIF3f1",
                    "type": "recommended"
                },
                {
                    "name": "CG9769",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9769",
                    "type": "synonym"
                },
                {
                    "name": "Q9VN50",
                    "type": "synonym"
                },
                {
                    "name": "eIF3-S5-1",
                    "type": "synonym"
                },
                {
                    "name": "eIF3-S5",
                    "type": "synonym"
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                {
                    "name": "eIF3f1",
                    "type": "synonym"
                },
                {
                    "name": "eIF3f",
                    "type": "synonym"
                },
                {
                    "name": "eif3f",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VN50-1",
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                    "id": "0081228",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081228"
                }
            ]
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        {
            "uniprot_canonical_ac": "A1Z6K7-1",
            "uniprot_ac": "A1Z6K7",
            "uniprot_id": "EI3F2_DROME",
            "refseq_ac": "NP_610210",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit F-2",
                    "type": "recommended"
                },
                {
                    "name": "CG8335-PA",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic translation initiation factor 3 subunit 5-2",
                    "type": "synonym"
                },
                {
                    "name": "eIF3f-2",
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                },
                {
                    "name": "eIF3f2-PA",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 3 subunit f2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eIF3f2",
                    "type": "recommended"
                },
                {
                    "name": "CG8335",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8335",
                    "type": "synonym"
                },
                {
                    "name": "eIF3-S5-2",
                    "type": "synonym"
                },
                {
                    "name": "eIF3-S5",
                    "type": "synonym"
                },
                {
                    "name": "eIF3f2",
                    "type": "synonym"
                },
                {
                    "name": "eIF3f",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z6K7-1",
            "evidence": [
                {
                    "id": "0081228",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081228"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081228"
}