{
    "disease_id": "DOID:0112206",
    "recommended_name": {
        "id": "DOID:0112206",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112206",
        "name": "developmental and epileptic encephalopathy 70",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112206",
            "name": "DEE70",
            "description": ""
        },
        {
            "id": "DOID:0112206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112206",
            "name": "early infantile epileptic encephalopathy 70",
            "description": ""
        },
        {
            "id": "MONDO:0032663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032663",
            "name": "developmental and epileptic encephalopathy, 70",
            "description": ""
        },
        {
            "id": "MONDO:0032663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032663",
            "name": "DEE70",
            "description": ""
        },
        {
            "id": "MONDO:0032663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032663",
            "name": "EIEE70",
            "description": ""
        },
        {
            "id": "MONDO:0032663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032663",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70",
            "description": ""
        },
        {
            "id": "MONDO:0032663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032663",
            "name": "developmental and epileptic encephalopathy 70",
            "description": ""
        },
        {
            "id": "MONDO:0032663",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032663",
            "name": "epileptic encephalopathy, early infantile, 70",
            "description": ""
        },
        {
            "id": "MIM:618298",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618298",
            "name": "Developmental and epileptic encephalopathy 70",
            "description": "Developmental and epileptic encephalopathy 70"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112206"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112206",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112206",
            "categories": []
        },
        {
            "id": "MONDO:0032663",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032663",
            "categories": []
        },
        {
            "id": "MIM:618298",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618298",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58I1V4-1",
            "uniprot_ac": "A0AC58I1V4",
            "uniprot_id": "A0AC58I1V4_DANRE",
            "refseq_ac": "XP_073788213",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatase and actin regulator",
                    "type": "recommended"
                },
                {
                    "name": "phosphatase and actin regulator 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "phactr1",
                    "type": "recommended"
                },
                {
                    "name": "phactr1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58I1V4-1",
            "evidence": [
                {
                    "id": "0112206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2M3X8-1",
            "uniprot_ac": "Q2M3X8",
            "uniprot_id": "PHAR1_MOUSE",
            "refseq_ac": "NP_001005740",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatase and actin regulator 1",
                    "type": "recommended"
                },
                {
                    "name": "RPEL repeat containing 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatase and actin regulator 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phactr1",
                    "type": "recommended"
                },
                {
                    "name": "9630030F18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Phactr1",
                    "type": "synonym"
                },
                {
                    "name": "Rpel1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2M3X8-1",
            "evidence": [
                {
                    "id": "0112206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C0D0-1",
            "uniprot_ac": "Q9C0D0",
            "uniprot_id": "PHAR1_HUMAN",
            "refseq_ac": "NP_001229577",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatase and actin regulator 1",
                    "type": "recommended"
                },
                {
                    "name": "RPEL repeat containing 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatase and actin regulator 1 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHACTR1",
                    "type": "recommended"
                },
                {
                    "name": "DEE70",
                    "type": "synonym"
                },
                {
                    "name": "EIEE70",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1733",
                    "type": "synonym"
                },
                {
                    "name": "PHACTR1",
                    "type": "synonym"
                },
                {
                    "name": "RPEL1",
                    "type": "synonym"
                },
                {
                    "name": "RPEL",
                    "type": "synonym"
                },
                {
                    "name": "dJ257A7.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C0D0-1",
            "evidence": [
                {
                    "id": "618298",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618298"
                },
                {
                    "id": "0112206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53858-1",
            "uniprot_ac": "P53858",
            "uniprot_id": "BNI4_YEAST",
            "refseq_ac": "NP_014166",
            "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": "Protein BNI4",
                    "type": "recommended"
                },
                {
                    "name": "Bni4p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BNI4",
                    "type": "recommended"
                },
                {
                    "name": "BNI4",
                    "type": "synonym"
                },
                {
                    "name": "N1146",
                    "type": "synonym"
                }
            ],
            "record_id": "P53858-1",
            "evidence": [
                {
                    "id": "0112206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62024-1",
            "uniprot_ac": "P62024",
            "uniprot_id": "PHAR1_RAT",
            "refseq_ac": "NP_999622",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatase and actin regulator 1",
                    "type": "recommended"
                },
                {
                    "name": "phosphatase and actin regulator 1 isoform 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phactr1",
                    "type": "recommended"
                },
                {
                    "name": "AABR07027306.1",
                    "type": "synonym"
                },
                {
                    "name": "Phactr1",
                    "type": "synonym"
                }
            ],
            "record_id": "P62024-1",
            "evidence": [
                {
                    "id": "0112206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZN0-1",
            "uniprot_ac": "Q9VZN0",
            "uniprot_id": "Q9VZN0_DROME",
            "refseq_ac": "NP_728897",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatase and actin regulator 4",
                    "type": "recommended"
                },
                {
                    "name": "CG32264-PD",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG10857",
                    "type": "recommended"
                },
                {
                    "name": "CG10860",
                    "type": "recommended"
                },
                {
                    "name": "CG12604",
                    "type": "recommended"
                },
                {
                    "name": "CG10857",
                    "type": "synonym"
                },
                {
                    "name": "CG10860",
                    "type": "synonym"
                },
                {
                    "name": "CG12604",
                    "type": "synonym"
                },
                {
                    "name": "CG14978",
                    "type": "synonym"
                },
                {
                    "name": "CG32264",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32264",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32264",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZN0-1",
            "evidence": [
                {
                    "id": "0112206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112206"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112206"
}