{
    "disease_id": "DOID:0070420",
    "recommended_name": {
        "id": "DOID:0070420",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070420",
        "name": "developmental delay, hypotonia, and impaired language",
        "description": "An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31."
    },
    "synonyms": [
        {
            "id": "DOID:0070420",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070420",
            "name": "DEDHIL",
            "description": ""
        },
        {
            "id": "MONDO:0859280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859280",
            "name": "developmental delay, hypotonia, and impaired language",
            "description": ""
        },
        {
            "id": "MIM:620012",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620012",
            "name": "Developmental delay, hypotonia, and impaired language",
            "description": "Developmental delay, hypotonia, and impaired language"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070420"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070420",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070420",
            "categories": []
        },
        {
            "id": "MONDO:0859280",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859280",
            "categories": []
        },
        {
            "id": "MIM:620012",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620012",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PIU0-1",
            "uniprot_ac": "A0A8M9PIU0",
            "uniprot_id": "A0A8M9PIU0_DANRE",
            "refseq_ac": "XP_021329580",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box/WD repeat-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "F-box/WD repeat-containing protein 7 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fbxw7",
                    "type": "recommended"
                },
                {
                    "name": "fbxw7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PIU0-1",
            "evidence": [
                {
                    "id": "0070420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VBV4-2",
            "uniprot_ac": "Q8VBV4",
            "uniprot_id": "FBXW7_MOUSE",
            "refseq_ac": "NP_536353",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box/WD repeat-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "F-box and WD-40 domain protein 7, archipelago homolog",
                    "type": "synonym"
                },
                {
                    "name": "F-box and WD-40 domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "F-box protein FBW7",
                    "type": "synonym"
                },
                {
                    "name": "F-box protein Fbxw6",
                    "type": "synonym"
                },
                {
                    "name": "F-box-WD40 repeat protein 6",
                    "type": "synonym"
                },
                {
                    "name": "F-box/WD repeat-containing protein 7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "F-box/WD repeat-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "SEL-10",
                    "type": "synonym"
                },
                {
                    "name": "f-box only protein 30",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxw7",
                    "type": "recommended"
                },
                {
                    "name": "1110001A17Rik",
                    "type": "synonym"
                },
                {
                    "name": "AGO",
                    "type": "synonym"
                },
                {
                    "name": "Cdc4",
                    "type": "synonym"
                },
                {
                    "name": "Fbw7",
                    "type": "synonym"
                },
                {
                    "name": "Fbwd6",
                    "type": "synonym"
                },
                {
                    "name": "Fbx30",
                    "type": "synonym"
                },
                {
                    "name": "Fbxo30",
                    "type": "synonym"
                },
                {
                    "name": "Fbxw6",
                    "type": "synonym"
                },
                {
                    "name": "Fbxw7",
                    "type": "synonym"
                },
                {
                    "name": "SEL-10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VBV4-2",
            "evidence": [
                {
                    "id": "0070420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969H0-1",
            "uniprot_ac": "Q969H0",
            "uniprot_id": "FBXW7_HUMAN",
            "refseq_ac": "NP_001013433",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box/WD repeat-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "Archipelago homolog",
                    "type": "synonym"
                },
                {
                    "name": "F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)",
                    "type": "synonym"
                },
                {
                    "name": "F-box and WD-40 domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "F-box protein FBW7",
                    "type": "synonym"
                },
                {
                    "name": "F-box protein FBX30",
                    "type": "synonym"
                },
                {
                    "name": "F-box protein SEL-10",
                    "type": "synonym"
                },
                {
                    "name": "F-box/WD repeat-containing protein 7 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "SEL-10",
                    "type": "synonym"
                },
                {
                    "name": "archipelago",
                    "type": "synonym"
                },
                {
                    "name": "hAgo",
                    "type": "synonym"
                },
                {
                    "name": "hCdc4",
                    "type": "synonym"
                },
                {
                    "name": "homolog of C elegans sel-10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBXW7",
                    "type": "recommended"
                },
                {
                    "name": "AGO",
                    "type": "synonym"
                },
                {
                    "name": "CDC4",
                    "type": "synonym"
                },
                {
                    "name": "DEDHIL",
                    "type": "synonym"
                },
                {
                    "name": "FBW6",
                    "type": "synonym"
                },
                {
                    "name": "FBW7",
                    "type": "synonym"
                },
                {
                    "name": "FBX30",
                    "type": "synonym"
                },
                {
                    "name": "FBXW6",
                    "type": "synonym"
                },
                {
                    "name": "FBXW7",
                    "type": "synonym"
                },
                {
                    "name": "SEL-10",
                    "type": "synonym"
                },
                {
                    "name": "SEL10",
                    "type": "synonym"
                },
                {
                    "name": "hAgo",
                    "type": "synonym"
                },
                {
                    "name": "hCdc4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969H0-1",
            "evidence": [
                {
                    "id": "620012",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620012"
                },
                {
                    "id": "0070420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07834-1",
            "uniprot_ac": "P07834",
            "uniprot_id": "CDC4_YEAST",
            "refseq_ac": "NP_116585",
            "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": "Cell division control protein 4",
                    "type": "recommended"
                },
                {
                    "name": "E3 ubiquitin ligase complex SCF subunit CDC4",
                    "type": "synonym"
                },
                {
                    "name": "F-box protein CDC4",
                    "type": "synonym"
                },
                {
                    "name": "SCF ubiquitin ligase complex subunit CDC4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC4",
                    "type": "recommended"
                },
                {
                    "name": "CDC4",
                    "type": "synonym"
                }
            ],
            "record_id": "P07834-1",
            "evidence": [
                {
                    "id": "0070420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40042-1",
            "uniprot_ac": "P40042",
            "uniprot_id": "RRT13_YEAST",
            "refseq_ac": "NP_010988",
            "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": "Regulator of rDNA transcription protein 13",
                    "type": "recommended"
                },
                {
                    "name": "Rrt13p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RRT13",
                    "type": "recommended"
                },
                {
                    "name": "RRT13",
                    "type": "synonym"
                }
            ],
            "record_id": "P40042-1",
            "evidence": [
                {
                    "id": "0070420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z902-1",
            "uniprot_ac": "D3Z902",
            "uniprot_id": "FBXW7_RAT",
            "refseq_ac": "NP_001406457",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box/WD repeat-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "F-box and WD-40 domain protein 7",
                    "type": "synonym"
                },
                {
                    "name": "F-box/WD repeat-containing protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxw7",
                    "type": "recommended"
                },
                {
                    "name": "Fbw7",
                    "type": "synonym"
                },
                {
                    "name": "Fbxw7",
                    "type": "synonym"
                },
                {
                    "name": "LOC100360914",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z902-1",
            "evidence": [
                {
                    "id": "0070420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZF4-1",
            "uniprot_ac": "Q9VZF4",
            "uniprot_id": "FBXW7_DROME",
            "refseq_ac": "NP_523922",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box/WD repeat-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "CG15010-PC",
                    "type": "synonym"
                },
                {
                    "name": "F-box and WD-40 domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Protein archipelago",
                    "type": "synonym"
                },
                {
                    "name": "ago-PC",
                    "type": "synonym"
                },
                {
                    "name": "archipelago, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "archipelago",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ago",
                    "type": "recommended"
                },
                {
                    "name": "Ago",
                    "type": "synonym"
                },
                {
                    "name": "CG15010",
                    "type": "synonym"
                },
                {
                    "name": "DmFbw7",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15010",
                    "type": "synonym"
                },
                {
                    "name": "FBXW3",
                    "type": "synonym"
                },
                {
                    "name": "FBXW7",
                    "type": "synonym"
                },
                {
                    "name": "SCF[Ago]",
                    "type": "synonym"
                },
                {
                    "name": "ago",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.345",
                    "type": "synonym"
                },
                {
                    "name": "cdc4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZF4-1",
            "evidence": [
                {
                    "id": "0070420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070420"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070420"
}