{
    "disease_id": "DOID:0080282",
    "recommended_name": {
        "id": "DOID:0080282",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080282",
        "name": "developmental and epileptic encephalopathy 56",
        "description": "A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080282",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080282",
            "name": "early infantile epileptic encephalopathy 56",
            "description": ""
        },
        {
            "id": "DOID:0080282",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080282",
            "name": "DEE56",
            "description": ""
        },
        {
            "id": "MONDO:0033365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033365",
            "name": "developmental and epileptic encephalopathy, 56",
            "description": ""
        },
        {
            "id": "MONDO:0033365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033365",
            "name": "DEE56",
            "description": ""
        },
        {
            "id": "MONDO:0033365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033365",
            "name": "EIEE56",
            "description": ""
        },
        {
            "id": "MONDO:0033365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033365",
            "name": "developmental and epileptic encephalopathy 56",
            "description": ""
        },
        {
            "id": "MONDO:0033365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033365",
            "name": "epileptic encephalopathy, early infantile, 56",
            "description": ""
        },
        {
            "id": "MONDO:0033365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033365",
            "name": "infantile epileptic encephalopathy 56",
            "description": ""
        },
        {
            "id": "MIM:617665",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617665",
            "name": "Developmental and epileptic encephalopathy 56",
            "description": "Developmental and epileptic encephalopathy 56"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080282"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080282",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080282",
            "categories": []
        },
        {
            "id": "MONDO:0033365",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033365",
            "categories": []
        },
        {
            "id": "MIM:617665",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617665",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F354-1",
            "uniprot_ac": "E7F354",
            "uniprot_id": "E7F354_DANRE",
            "refseq_ac": "XP_689050",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "14-3-3 protein gamma-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ywhag2",
                    "type": "recommended"
                },
                {
                    "name": "ywhag2",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F354-1",
            "evidence": [
                {
                    "id": "0080282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PC29-1",
            "uniprot_ac": "Q6PC29",
            "uniprot_id": "143G1_DANRE",
            "refseq_ac": "NP_998187",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "14-3-3 protein gamma-1",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3 protein gamma-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ywhag1",
                    "type": "recommended"
                },
                {
                    "name": "cb47",
                    "type": "synonym"
                },
                {
                    "name": "fd20c02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd20c02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj53d01",
                    "type": "synonym"
                },
                {
                    "name": "ywhag1",
                    "type": "synonym"
                },
                {
                    "name": "ywhag",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73131",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PC29-1",
            "evidence": [
                {
                    "id": "0080282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61982-1",
            "uniprot_ac": "P61982",
            "uniprot_id": "1433G_MOUSE",
            "refseq_ac": "NP_061359",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "14-3-3 protein gamma",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3 gamma",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3 protein gamma subtype",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3 protein gamma",
                    "type": "synonym"
                },
                {
                    "name": "3-monooxgenase/tryptophan 5-monooxgenase activation protein, gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "3-monooxgenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ywhag",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3gamma",
                    "type": "synonym"
                },
                {
                    "name": "D7Bwg1348e",
                    "type": "synonym"
                },
                {
                    "name": "Ywhag",
                    "type": "synonym"
                }
            ],
            "record_id": "P61982-1",
            "evidence": [
                {
                    "id": "0080282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61981-1",
            "uniprot_ac": "P61981",
            "uniprot_id": "1433G_HUMAN",
            "refseq_ac": "NP_036611",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "14-3-3 protein gamma",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3 protein gamma",
                    "type": "synonym"
                },
                {
                    "name": "KCIP-1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase C inhibitor protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C inhibitor protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 170",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YWHAG",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3GAMMA",
                    "type": "synonym"
                },
                {
                    "name": "DEE56",
                    "type": "synonym"
                },
                {
                    "name": "EIEE56",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R170",
                    "type": "synonym"
                },
                {
                    "name": "YWHAG",
                    "type": "synonym"
                }
            ],
            "record_id": "P61981-1",
            "evidence": [
                {
                    "id": "617665",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617665"
                },
                {
                    "id": "0080282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61983-1",
            "uniprot_ac": "P61983",
            "uniprot_id": "1433G_RAT",
            "refseq_ac": "NP_062249",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "14-3-3 protein gamma",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3 protein gamma-subtype",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3 protein gamma",
                    "type": "synonym"
                },
                {
                    "name": "3-monooxygenase/tryptophan 5-monooxgenase activation protein gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "tryosine 3-monooxgenase/tryptophan 5 monooxgenase activation protein gamma",
                    "type": "synonym"
                },
                {
                    "name": "tryosine 3-monooxgenase/tryptophan 5-monooxgenase activation protein gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxgenase/tryptophan 5-monooxgenase activation protein, gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3/tryptophan 5 -monooxygenase activation protein, gamma polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ywhag",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3G",
                    "type": "synonym"
                },
                {
                    "name": "Ywhag",
                    "type": "synonym"
                }
            ],
            "record_id": "P61983-1",
            "evidence": [
                {
                    "id": "0080282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080282"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29310-1",
            "uniprot_ac": "P29310",
            "uniprot_id": "1433Z_DROME",
            "refseq_ac": "NP_001014515",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "14-3-3 protein zeta",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3zeta, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3zeta-PJ",
                    "type": "synonym"
                },
                {
                    "name": "CG17870-PJ",
                    "type": "synonym"
                },
                {
                    "name": "D14 3 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "Leonardo-13-3-3",
                    "type": "synonym"
                },
                {
                    "name": "Protein Leonardo",
                    "type": "synonym"
                },
                {
                    "name": "complementation group K",
                    "type": "synonym"
                },
                {
                    "name": "leonardo 14-3-3",
                    "type": "synonym"
                },
                {
                    "name": "leonardo",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "14-3-3zeta",
                    "type": "recommended"
                },
                {
                    "name": "14-3-3 zeta",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3-Leo",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3-zeta",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3EZ",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3ZETA",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3leo",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3zeta",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3z",
                    "type": "synonym"
                },
                {
                    "name": "14-3-3",
                    "type": "synonym"
                },
                {
                    "name": "14.3.3",
                    "type": "synonym"
                },
                {
                    "name": "1433Z",
                    "type": "synonym"
                },
                {
                    "name": "2G1",
                    "type": "synonym"
                },
                {
                    "name": "4-3-3 zeta",
                    "type": "synonym"
                },
                {
                    "name": "5.11",
                    "type": "synonym"
                },
                {
                    "name": "549",
                    "type": "synonym"
                },
                {
                    "name": "BEST:GH05075",
                    "type": "synonym"
                },
                {
                    "name": "CG17870",
                    "type": "synonym"
                },
                {
                    "name": "D14-3-3zeta",
                    "type": "synonym"
                },
                {
                    "name": "D14-3-3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17870",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17870",
                    "type": "synonym"
                },
                {
                    "name": "K",
                    "type": "synonym"
                },
                {
                    "name": "LEO",
                    "type": "synonym"
                },
                {
                    "name": "Leo",
                    "type": "synonym"
                },
                {
                    "name": "PAR-5",
                    "type": "synonym"
                },
                {
                    "name": "PAR5",
                    "type": "synonym"
                },
                {
                    "name": "Par-5",
                    "type": "synonym"
                },
                {
                    "name": "THAP",
                    "type": "synonym"
                },
                {
                    "name": "d14-3-3zeta",
                    "type": "synonym"
                },
                {
                    "name": "l(2)07103",
                    "type": "synonym"
                },
                {
                    "name": "l(2)46CFe",
                    "type": "synonym"
                },
                {
                    "name": "l(2)46Ee",
                    "type": "synonym"
                },
                {
                    "name": "leo",
                    "type": "synonym"
                },
                {
                    "name": "par-5",
                    "type": "synonym"
                }
            ],
            "record_id": "P29310-1",
            "evidence": [
                {
                    "id": "0080282",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080282"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080282"
}