{
    "disease_id": "DOID:0080446",
    "recommended_name": {
        "id": "DOID:0080446",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080446",
        "name": "developmental and epileptic encephalopathy 66",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "DOID:0080446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080446",
            "name": "DEE66",
            "description": ""
        },
        {
            "id": "DOID:0080446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080446",
            "name": "early infantile epileptic encephalopathy 66",
            "description": ""
        },
        {
            "id": "MONDO:0054845",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054845",
            "name": "developmental and epileptic encephalopathy, 66",
            "description": ""
        },
        {
            "id": "MONDO:0054845",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054845",
            "name": "DEE66",
            "description": ""
        },
        {
            "id": "MONDO:0054845",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054845",
            "name": "EIEE66",
            "description": ""
        },
        {
            "id": "MONDO:0054845",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054845",
            "name": "developmental and epileptic encephalopathy 66",
            "description": ""
        },
        {
            "id": "MONDO:0054845",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054845",
            "name": "epileptic encephalopathy, early infantile, 66",
            "description": ""
        },
        {
            "id": "MIM:618067",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618067",
            "name": "Developmental and epileptic encephalopathy 66",
            "description": "Developmental and epileptic encephalopathy 66"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080446"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080446",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080446",
            "categories": []
        },
        {
            "id": "MONDO:0054845",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054845",
            "categories": []
        },
        {
            "id": "MIM:618067",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618067",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B5F0-1",
            "uniprot_ac": "A0A8M3B5F0",
            "uniprot_id": "A0A8M3B5F0_DANRE",
            "refseq_ac": "XP_009305758",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphofurin acidic cluster sorting protein 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "phosphofurin acidic cluster sorting protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pacs2",
                    "type": "recommended"
                },
                {
                    "name": "pacs2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B5F0-1",
            "evidence": [
                {
                    "id": "0080446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3V3Q7-1",
            "uniprot_ac": "Q3V3Q7",
            "uniprot_id": "PACS2_MOUSE",
            "refseq_ac": "NP_001278374",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphofurin acidic cluster sorting protein 2",
                    "type": "recommended"
                },
                {
                    "name": "PACS-2",
                    "type": "synonym"
                },
                {
                    "name": "PACS1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphofurin acidic cluster sorting protein 2 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pacs2",
                    "type": "recommended"
                },
                {
                    "name": "6720425G15Rik",
                    "type": "synonym"
                },
                {
                    "name": "E230011J22",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0602",
                    "type": "synonym"
                },
                {
                    "name": "Pacs1l",
                    "type": "synonym"
                },
                {
                    "name": "Pacs2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0602",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3V3Q7-1",
            "evidence": [
                {
                    "id": "0080446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86VP3-1",
            "uniprot_ac": "Q86VP3",
            "uniprot_id": "PACS2_HUMAN",
            "refseq_ac": "NP_001094383",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphofurin acidic cluster sorting protein 2",
                    "type": "recommended"
                },
                {
                    "name": "PACS-2",
                    "type": "synonym"
                },
                {
                    "name": "PACS1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphofurin acidic cluster sorting protein 2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PACS2",
                    "type": "recommended"
                },
                {
                    "name": "DEE66",
                    "type": "synonym"
                },
                {
                    "name": "EIEE66",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0602",
                    "type": "synonym"
                },
                {
                    "name": "PACS-2",
                    "type": "synonym"
                },
                {
                    "name": "PACS1L",
                    "type": "synonym"
                },
                {
                    "name": "PACS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86VP3-1",
            "evidence": [
                {
                    "id": "618067",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618067"
                },
                {
                    "id": "0080446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZJG4-1",
            "uniprot_ac": "D3ZJG4",
            "uniprot_id": "D3ZJG4_RAT",
            "refseq_ac": "XP_006240730",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphofurin acidic cluster sorting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphofurin acidic cluster sorting protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pacs2",
                    "type": "recommended"
                },
                {
                    "name": "Pacs2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZJG4-1",
            "evidence": [
                {
                    "id": "0080446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCE7-1",
            "uniprot_ac": "Q9VCE7",
            "uniprot_id": "Q9VCE7_DROME",
            "refseq_ac": "NP_524473",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5405-PA",
                    "type": "synonym"
                },
                {
                    "name": "KrT95D-PA",
                    "type": "synonym"
                },
                {
                    "name": "Krueppel target at 95D, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Krueppel target at 95D, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "krueppel target at 95D, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pacs",
                    "type": "recommended"
                },
                {
                    "name": "CG5405",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5405",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5405",
                    "type": "synonym"
                },
                {
                    "name": "KrT95D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCE7-1",
            "evidence": [
                {
                    "id": "0080446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080446"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080446"
}