{
    "disease_id": "DOID:0070386",
    "recommended_name": {
        "id": "DOID:0070386",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070386",
        "name": "developmental and epileptic encephalopathy 100",
        "description": "A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0070386",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070386",
            "name": "DEE100",
            "description": ""
        },
        {
            "id": "DOID:0070386",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070386",
            "name": "early infantile epileptic encephalopathy 100",
            "description": ""
        },
        {
            "id": "MONDO:0030695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030695",
            "name": "developmental and epileptic encephalopathy 100",
            "description": ""
        },
        {
            "id": "MONDO:0030695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030695",
            "name": "DEE100",
            "description": ""
        },
        {
            "id": "MONDO:0030695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030695",
            "name": "developmental and epileptic encephalopathy 100",
            "description": ""
        },
        {
            "id": "MIM:619777",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619777",
            "name": "Developmental and epileptic encephalopathy 100",
            "description": "Developmental and epileptic encephalopathy 100"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070386"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070386",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070386",
            "categories": []
        },
        {
            "id": "MONDO:0030695",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030695",
            "categories": []
        },
        {
            "id": "MIM:619777",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619777",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P937-1",
            "uniprot_ac": "A0A8M1P937",
            "uniprot_id": "A0A8M1P937_DANRE",
            "refseq_ac": "NP_001314764",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fbxo28",
                    "type": "recommended"
                },
                {
                    "name": "fbxo28",
                    "type": "synonym"
                },
                {
                    "name": "fd49h06",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-178h7.5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd49h06",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P937-1",
            "evidence": [
                {
                    "id": "0070386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BIG4-1",
            "uniprot_ac": "Q8BIG4",
            "uniprot_id": "FBX28_MOUSE",
            "refseq_ac": "NP_780336",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 28",
                    "type": "recommended"
                },
                {
                    "name": "F-box only protein 28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxo28",
                    "type": "recommended"
                },
                {
                    "name": "4833428J17Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730505P19Rik",
                    "type": "synonym"
                },
                {
                    "name": "D1Ertd578e",
                    "type": "synonym"
                },
                {
                    "name": "Fbx28",
                    "type": "synonym"
                },
                {
                    "name": "Fbxo28",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0483",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0483",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BIG4-1",
            "evidence": [
                {
                    "id": "0070386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVF7-1",
            "uniprot_ac": "Q9NVF7",
            "uniprot_id": "FBX28_HUMAN",
            "refseq_ac": "NP_001129587",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 28",
                    "type": "recommended"
                },
                {
                    "name": "F-box only protein 28 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "F-box only protein 28",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein 30",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBXO28",
                    "type": "recommended"
                },
                {
                    "name": "CENP-30",
                    "type": "synonym"
                },
                {
                    "name": "DEE100",
                    "type": "synonym"
                },
                {
                    "name": "FBXO28",
                    "type": "synonym"
                },
                {
                    "name": "Fbx28",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0483",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NVF7-1",
            "evidence": [
                {
                    "id": "619777",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619777"
                },
                {
                    "id": "0070386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RZ28-1",
            "uniprot_ac": "B2RZ28",
            "uniprot_id": "B2RZ28_RAT",
            "refseq_ac": "NP_001100673",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "F-box only protein 28",
                    "type": "synonym"
                },
                {
                    "name": "F-box protein 28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbxo28",
                    "type": "recommended"
                },
                {
                    "name": "Fbxo28",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RZ28-1",
            "evidence": [
                {
                    "id": "0070386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070386"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VT01-1",
            "uniprot_ac": "Q9VT01",
            "uniprot_id": "Q9VT01_DROME",
            "refseq_ac": "NP_648325",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3428-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pallbearer",
                    "type": "synonym"
                },
                {
                    "name": "pall-PA",
                    "type": "synonym"
                },
                {
                    "name": "pallbearer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pall",
                    "type": "recommended"
                },
                {
                    "name": "CG3428",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3428",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3428",
                    "type": "synonym"
                },
                {
                    "name": "FBXO1",
                    "type": "synonym"
                },
                {
                    "name": "PALL",
                    "type": "synonym"
                },
                {
                    "name": "Pall",
                    "type": "synonym"
                },
                {
                    "name": "pall",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VT01-1",
            "evidence": [
                {
                    "id": "0070386",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070386"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070386"
}