{
    "disease_id": "DOID:0070375",
    "recommended_name": {
        "id": "DOID:0070375",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070375",
        "name": "developmental and epileptic encephalopathy 64",
        "description": "A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070375",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070375",
            "name": "DEE64",
            "description": ""
        },
        {
            "id": "DOID:0070375",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070375",
            "name": "early infantile epileptic encephalopathy 64",
            "description": ""
        },
        {
            "id": "MONDO:0033373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033373",
            "name": "developmental and epileptic encephalopathy, 64",
            "description": ""
        },
        {
            "id": "MONDO:0033373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033373",
            "name": "RHOBTB2-related disorders",
            "description": ""
        },
        {
            "id": "MONDO:0033373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033373",
            "name": "DEE64",
            "description": ""
        },
        {
            "id": "MONDO:0033373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033373",
            "name": "EIEE64",
            "description": ""
        },
        {
            "id": "MONDO:0033373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033373",
            "name": "RHOBTB2 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0033373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033373",
            "name": "RHOBTB2-associated neurodevelopmental disorders",
            "description": ""
        },
        {
            "id": "MONDO:0033373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033373",
            "name": "developmental and epileptic encephalopathy 64",
            "description": ""
        },
        {
            "id": "MONDO:0033373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033373",
            "name": "epileptic encephalopathy, early infantile, 64",
            "description": ""
        },
        {
            "id": "MIM:618004",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618004",
            "name": "Developmental and epileptic encephalopathy 64",
            "description": "Developmental and epileptic encephalopathy 64"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070375"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070375",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070375",
            "categories": []
        },
        {
            "id": "MONDO:0033373",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033373",
            "categories": []
        },
        {
            "id": "MIM:618004",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618004",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z0X0-1",
            "uniprot_ac": "A0A8M6Z0X0",
            "uniprot_id": "A0A8M6Z0X0_DANRE",
            "refseq_ac": "XP_073771349",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho-related BTB domain-containing protein 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "rho-related BTB domain-containing protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rhobtb2b",
                    "type": "recommended"
                },
                {
                    "name": "rhobtb2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z0X0-1",
            "evidence": [
                {
                    "id": "0070375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1RSW5-1",
            "uniprot_ac": "A0A8M1RSW5",
            "uniprot_id": "A0A8M1RSW5_DANRE",
            "refseq_ac": "XP_003199615",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho-related BTB domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "rho-related BTB domain-containing protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rhobtb1",
                    "type": "recommended"
                },
                {
                    "name": "rhobtb1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RSW5-1",
            "evidence": [
                {
                    "id": "0070375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91V93-1",
            "uniprot_ac": "Q91V93",
            "uniprot_id": "RHBT2_MOUSE",
            "refseq_ac": "NP_705734",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho-related BTB domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "Deleted in breast cancer 2 gene protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "deleted in breast cancer 2 gene protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "rho-related BTB domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rhobtb2",
                    "type": "recommended"
                },
                {
                    "name": "Dbc2",
                    "type": "synonym"
                },
                {
                    "name": "E130206H14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rhobtb2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0717",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91V93-1",
            "evidence": [
                {
                    "id": "0070375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DAK3-1",
            "uniprot_ac": "Q9DAK3",
            "uniprot_id": "RHBT1_MOUSE",
            "refseq_ac": "NP_001074816",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho-related BTB domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "rho-related BTB domain-containing protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rho-related BTB domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rhobtb1",
                    "type": "recommended"
                },
                {
                    "name": "1700008H16Rik",
                    "type": "synonym"
                },
                {
                    "name": "3110048G13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rhobtb1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DAK3-1",
            "evidence": [
                {
                    "id": "0070375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BYZ6-1",
            "uniprot_ac": "Q9BYZ6",
            "uniprot_id": "RHBT2_HUMAN",
            "refseq_ac": "NP_001153508",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho-related BTB domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "Deleted in breast cancer 2 gene protein",
                    "type": "synonym"
                },
                {
                    "name": "deleted in breast cancer 2 gene protein",
                    "type": "synonym"
                },
                {
                    "name": "p83",
                    "type": "synonym"
                },
                {
                    "name": "rho-related BTB domain-containing protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rho-related BTB domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RHOBTB2",
                    "type": "recommended"
                },
                {
                    "name": "DBC2",
                    "type": "synonym"
                },
                {
                    "name": "DEE64",
                    "type": "synonym"
                },
                {
                    "name": "EIEE64",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0717",
                    "type": "synonym"
                },
                {
                    "name": "RHOBTB2",
                    "type": "synonym"
                },
                {
                    "name": "p83",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BYZ6-1",
            "evidence": [
                {
                    "id": "618004",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618004"
                },
                {
                    "id": "0070375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZD37-1",
            "uniprot_ac": "D3ZD37",
            "uniprot_id": "D3ZD37_RAT",
            "refseq_ac": "NP_001101092",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho-related BTB domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "rho-related BTB domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rhobtb1",
                    "type": "recommended"
                },
                {
                    "name": "Rhobtb1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZD37-1",
            "evidence": [
                {
                    "id": "0070375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PG08-1",
            "uniprot_ac": "M9PG08",
            "uniprot_id": "M9PG08_DROME",
            "refseq_ac": "NP_001262107",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5701-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rho-related BTB domain containing, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "RhoBTB-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RhoBTB",
                    "type": "recommended"
                },
                {
                    "name": "28574635",
                    "type": "synonym"
                },
                {
                    "name": "CG5701",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5701",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5701",
                    "type": "synonym"
                },
                {
                    "name": "RhoBTB",
                    "type": "synonym"
                },
                {
                    "name": "RhoGTPase",
                    "type": "synonym"
                },
                {
                    "name": "RhoX",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PG08-1",
            "evidence": [
                {
                    "id": "0070375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94844-1",
            "uniprot_ac": "O94844",
            "uniprot_id": "RHBT1_HUMAN",
            "refseq_ac": "NP_001229288",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho-related BTB domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "rho-related BTB domain-containing protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rho-related BTB domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RHOBTB1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0740",
                    "type": "synonym"
                },
                {
                    "name": "RHOBTB1",
                    "type": "synonym"
                }
            ],
            "record_id": "O94844-1",
            "evidence": [
                {
                    "id": "0070375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070375"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070375"
}