{
    "disease_id": "DOID:0070378",
    "recommended_name": {
        "id": "DOID:0070378",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070378",
        "name": "developmental and epileptic encephalopathy 109",
        "description": "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070378",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070378",
            "name": "DEE109",
            "description": ""
        },
        {
            "id": "MONDO:0859325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859325",
            "name": "developmental and epileptic encephalopathy 109",
            "description": ""
        },
        {
            "id": "MIM:620145",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620145",
            "name": "Developmental and epileptic encephalopathy 109",
            "description": "Developmental and epileptic encephalopathy 109"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070378"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070378",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070378",
            "categories": []
        },
        {
            "id": "MONDO:0859325",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859325",
            "categories": []
        },
        {
            "id": "MIM:620145",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620145",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RLN6-1",
            "uniprot_ac": "A0A8M1RLN6",
            "uniprot_id": "A0A8M1RLN6_DANRE",
            "refseq_ac": "XP_003197866",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fizzy-related protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Cdh1/Hct1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "fizzy-related protein homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fzr1b",
                    "type": "recommended"
                },
                {
                    "name": "fzr1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RLN6-1",
            "evidence": [
                {
                    "id": "0070378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1K5-1",
            "uniprot_ac": "Q9R1K5",
            "uniprot_id": "FZR1_MOUSE",
            "refseq_ac": "NP_062731",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fizzy-related protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Cdh1/Hct1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Fzr",
                    "type": "synonym"
                },
                {
                    "name": "cdh1/Hct1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle 20 related 1",
                    "type": "synonym"
                },
                {
                    "name": "fizzy-related protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "fizzy/cell division cycle 20 related 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fzr1",
                    "type": "recommended"
                },
                {
                    "name": "Cdh1",
                    "type": "synonym"
                },
                {
                    "name": "FZR2",
                    "type": "synonym"
                },
                {
                    "name": "FZR",
                    "type": "synonym"
                },
                {
                    "name": "Fyr",
                    "type": "synonym"
                },
                {
                    "name": "Fzr1",
                    "type": "synonym"
                },
                {
                    "name": "Fzr",
                    "type": "synonym"
                },
                {
                    "name": "HCDH1",
                    "type": "synonym"
                },
                {
                    "name": "HCDH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1K5-1",
            "evidence": [
                {
                    "id": "0070378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UM11-1",
            "uniprot_ac": "Q9UM11",
            "uniprot_id": "FZR1_HUMAN",
            "refseq_ac": "NP_001129669",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fizzy-related protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "CDC20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "CDC20-like 1b",
                    "type": "synonym"
                },
                {
                    "name": "CDC20-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Cdh1/Hct1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Fzr",
                    "type": "synonym"
                },
                {
                    "name": "cdh1/Hct1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "fizzy-related protein homolog isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "fizzy-related protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "fizzy/cell division cycle 20 related 1",
                    "type": "synonym"
                },
                {
                    "name": "hCDH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FZR1",
                    "type": "recommended"
                },
                {
                    "name": "CDC20C",
                    "type": "synonym"
                },
                {
                    "name": "CDH1",
                    "type": "synonym"
                },
                {
                    "name": "DEE109",
                    "type": "synonym"
                },
                {
                    "name": "FYR",
                    "type": "synonym"
                },
                {
                    "name": "FZR1",
                    "type": "synonym"
                },
                {
                    "name": "FZR2",
                    "type": "synonym"
                },
                {
                    "name": "FZR",
                    "type": "synonym"
                },
                {
                    "name": "HCDH1",
                    "type": "synonym"
                },
                {
                    "name": "HCDH",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1242",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UM11-1",
            "evidence": [
                {
                    "id": "620145",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620145"
                },
                {
                    "id": "0070378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53197-1",
            "uniprot_ac": "P53197",
            "uniprot_id": "CDH1_YEAST",
            "refseq_ac": "NP_011512",
            "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": "APC/C activator protein CDH1",
                    "type": "recommended"
                },
                {
                    "name": "CDC20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Cdh1p",
                    "type": "synonym"
                },
                {
                    "name": "Homolog of CDC twenty 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDH1",
                    "type": "recommended"
                },
                {
                    "name": "CDH1",
                    "type": "synonym"
                },
                {
                    "name": "HCT1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53197-1",
            "evidence": [
                {
                    "id": "0070378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1WCA1-1",
            "uniprot_ac": "B1WCA1",
            "uniprot_id": "B1WCA1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fizzy-related protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "Cdh1/Hct1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fzr1",
                    "type": "recommended"
                }
            ],
            "record_id": "B1WCA1-1",
            "evidence": [
                {
                    "id": "0070378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070378"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4H9-1",
            "uniprot_ac": "Q9W4H9",
            "uniprot_id": "Q9W4H9_DROME",
            "refseq_ac": "NP_524852",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fizzy-related protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG3000-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cdh1/Hct1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Cdh1",
                    "type": "synonym"
                },
                {
                    "name": "Fizzy-related/Cdh1",
                    "type": "synonym"
                },
                {
                    "name": "Fizzy-related",
                    "type": "synonym"
                },
                {
                    "name": "fizzy related",
                    "type": "synonym"
                },
                {
                    "name": "fizzy-related, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "fzr-PA",
                    "type": "synonym"
                },
                {
                    "name": "redax",
                    "type": "synonym"
                },
                {
                    "name": "reduced axons",
                    "type": "synonym"
                },
                {
                    "name": "retina aberrant in pattern",
                    "type": "synonym"
                },
                {
                    "name": "westfalenexpress",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fzr",
                    "type": "recommended"
                },
                {
                    "name": "APC/C[Fzr/Cdh1]",
                    "type": "synonym"
                },
                {
                    "name": "APC/C",
                    "type": "synonym"
                },
                {
                    "name": "CDH1",
                    "type": "synonym"
                },
                {
                    "name": "CG3000",
                    "type": "synonym"
                },
                {
                    "name": "Cdh1/Fzr",
                    "type": "synonym"
                },
                {
                    "name": "Cdh1FZR",
                    "type": "synonym"
                },
                {
                    "name": "Cdh1[Fzr]",
                    "type": "synonym"
                },
                {
                    "name": "Cdh1]",
                    "type": "synonym"
                },
                {
                    "name": "Cdh1",
                    "type": "synonym"
                },
                {
                    "name": "Cdh[Fzr]",
                    "type": "synonym"
                },
                {
                    "name": "C",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3000",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3000",
                    "type": "synonym"
                },
                {
                    "name": "Fxr",
                    "type": "synonym"
                },
                {
                    "name": "Fzr/rap",
                    "type": "synonym"
                },
                {
                    "name": "Fzr",
                    "type": "synonym"
                },
                {
                    "name": "Hec/Cdh[Fzr]",
                    "type": "synonym"
                },
                {
                    "name": "Rap/Fzr",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.193",
                    "type": "synonym"
                },
                {
                    "name": "cdh1",
                    "type": "synonym"
                },
                {
                    "name": "dFZR",
                    "type": "synonym"
                },
                {
                    "name": "fizzy-related",
                    "type": "synonym"
                },
                {
                    "name": "fzr/Cdh1",
                    "type": "synonym"
                },
                {
                    "name": "fzr/cdh1",
                    "type": "synonym"
                },
                {
                    "name": "fzr",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0326",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0418",
                    "type": "synonym"
                },
                {
                    "name": "rap/Fzr",
                    "type": "synonym"
                },
                {
                    "name": "rap/fizzy-related",
                    "type": "synonym"
                },
                {
                    "name": "rap/fzr",
                    "type": "synonym"
                },
                {
                    "name": "rap",
                    "type": "synonym"
                },
                {
                    "name": "redax",
                    "type": "synonym"
                },
                {
                    "name": "wex",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4H9-1",
            "evidence": [
                {
                    "id": "0070378",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070378"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070378"
}