{
    "disease_id": "DOID:0112212",
    "recommended_name": {
        "id": "DOID:0112212",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112212",
        "name": "developmental and epileptic encephalopathy 76",
        "description": "A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112212",
            "name": "DECAM",
            "description": ""
        },
        {
            "id": "DOID:0112212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112212",
            "name": "DEE76",
            "description": ""
        },
        {
            "id": "DOID:0112212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112212",
            "name": "early infantile epileptic encephalopathy 76",
            "description": ""
        },
        {
            "id": "DOID:0112212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112212",
            "name": "developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination",
            "description": ""
        },
        {
            "id": "MONDO:0032768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "name": "developmental and epileptic encephalopathy, 76",
            "description": ""
        },
        {
            "id": "MONDO:0032768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "name": "DEE76",
            "description": ""
        },
        {
            "id": "MONDO:0032768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "name": "EIEE76",
            "description": ""
        },
        {
            "id": "MONDO:0032768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76",
            "description": ""
        },
        {
            "id": "MONDO:0032768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "name": "developmental and epileptic encephalopathy 76",
            "description": ""
        },
        {
            "id": "MONDO:0032768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "name": "epileptic encephalopathy, early infantile, 76",
            "description": ""
        },
        {
            "id": "MIM:618468",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618468",
            "name": "Developmental and epileptic encephalopathy 76",
            "description": "Developmental and epileptic encephalopathy 76"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112212"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112212",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112212",
            "categories": []
        },
        {
            "id": "MONDO:0032768",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "categories": []
        },
        {
            "id": "MIM:618468",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618468",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6U2-1",
            "uniprot_ac": "A0ACD6B6U2",
            "uniprot_id": "A0ACD6B6U2_DANRE",
            "refseq_ac": "NP_001018576",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-like protein 6B isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "actin-like protein 6B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "actl6b",
                    "type": "recommended"
                },
                {
                    "name": "actl6b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110167",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6U2-1",
            "evidence": [
                {
                    "id": "0112212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99MR0-1",
            "uniprot_ac": "Q99MR0",
            "uniprot_id": "ACL6B_MOUSE",
            "refseq_ac": "NP_113581",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-like protein 6B",
                    "type": "recommended"
                },
                {
                    "name": "53 kDa BRG1-associated factor B",
                    "type": "synonym"
                },
                {
                    "name": "Actin-related protein Baf53b",
                    "type": "synonym"
                },
                {
                    "name": "ArpN-alpha",
                    "type": "synonym"
                },
                {
                    "name": "ArpNa",
                    "type": "synonym"
                },
                {
                    "name": "BAF53B",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 53B",
                    "type": "synonym"
                },
                {
                    "name": "actin-like 6",
                    "type": "synonym"
                },
                {
                    "name": "actin-like protein 6B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "actin-like protein 6B",
                    "type": "synonym"
                },
                {
                    "name": "actin-related protein Baf53b",
                    "type": "synonym"
                },
                {
                    "name": "arpN-alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actl6b",
                    "type": "recommended"
                },
                {
                    "name": "Actl6b",
                    "type": "synonym"
                },
                {
                    "name": "Actl6",
                    "type": "synonym"
                },
                {
                    "name": "ArpNa",
                    "type": "synonym"
                },
                {
                    "name": "Arpna",
                    "type": "synonym"
                },
                {
                    "name": "Baf53b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99MR0-1",
            "evidence": [
                {
                    "id": "0112212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94805-1",
            "uniprot_ac": "O94805",
            "uniprot_id": "ACL6B_HUMAN",
            "refseq_ac": "NP_057272",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-like protein 6B",
                    "type": "recommended"
                },
                {
                    "name": "53 kDa BRG1-associated factor B",
                    "type": "synonym"
                },
                {
                    "name": "Actin-related protein Baf53b",
                    "type": "synonym"
                },
                {
                    "name": "ArpNalpha",
                    "type": "synonym"
                },
                {
                    "name": "BAF53B",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 53B",
                    "type": "synonym"
                },
                {
                    "name": "actin-like protein 6B",
                    "type": "synonym"
                },
                {
                    "name": "actin-related protein Baf53b",
                    "type": "synonym"
                },
                {
                    "name": "hArpN alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACTL6B",
                    "type": "recommended"
                },
                {
                    "name": "ACTL6B",
                    "type": "synonym"
                },
                {
                    "name": "ACTL6",
                    "type": "synonym"
                },
                {
                    "name": "BAF53B",
                    "type": "synonym"
                },
                {
                    "name": "DEE76",
                    "type": "synonym"
                },
                {
                    "name": "EIEE76",
                    "type": "synonym"
                },
                {
                    "name": "IDDSSAD",
                    "type": "synonym"
                },
                {
                    "name": "SMARCN2",
                    "type": "synonym"
                },
                {
                    "name": "arpNalpha",
                    "type": "synonym"
                }
            ],
            "record_id": "O94805-1",
            "evidence": [
                {
                    "id": "618468",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618468"
                },
                {
                    "id": "0112212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P80428-1",
            "uniprot_ac": "P80428",
            "uniprot_id": "ARP4_YEAST",
            "refseq_ac": "NP_012454",
            "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": "Actin-related protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Actin-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Actin-like protein ARP4",
                    "type": "synonym"
                },
                {
                    "name": "Arp4p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARP4",
                    "type": "recommended"
                },
                {
                    "name": "ACT3",
                    "type": "synonym"
                },
                {
                    "name": "ARP4",
                    "type": "synonym"
                },
                {
                    "name": "J1012",
                    "type": "synonym"
                }
            ],
            "record_id": "P80428-1",
            "evidence": [
                {
                    "id": "0112212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12406-1",
            "uniprot_ac": "Q12406",
            "uniprot_id": "ARP7_YEAST",
            "refseq_ac": "NP_015359",
            "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": "Actin-related protein 7",
                    "type": "recommended"
                },
                {
                    "name": "Actin-like protein ARP7",
                    "type": "synonym"
                },
                {
                    "name": "Arp7p",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin structure-remodeling complex protein ARP7",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF complex component ARP7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARP7",
                    "type": "recommended"
                },
                {
                    "name": "ARP7",
                    "type": "synonym"
                },
                {
                    "name": "RSC11",
                    "type": "synonym"
                },
                {
                    "name": "SWP61",
                    "type": "synonym"
                },
                {
                    "name": "YP9367.14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12406-1",
            "evidence": [
                {
                    "id": "0112212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P86173-1",
            "uniprot_ac": "P86173",
            "uniprot_id": "ACL6B_RAT",
            "refseq_ac": "NP_001099387",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-like protein 6B",
                    "type": "recommended"
                },
                {
                    "name": "BAF53B",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 53B",
                    "type": "synonym"
                },
                {
                    "name": "actin-like 6",
                    "type": "synonym"
                },
                {
                    "name": "actin-like protein 6B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actl6b",
                    "type": "recommended"
                },
                {
                    "name": "Actl6b",
                    "type": "synonym"
                },
                {
                    "name": "Actl6",
                    "type": "synonym"
                }
            ],
            "record_id": "P86173-1",
            "evidence": [
                {
                    "id": "0112212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112212"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112212"
}