{
    "disease_id": "DOID:0112220",
    "recommended_name": {
        "id": "DOID:0112220",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112220",
        "name": "developmental and epileptic encephalopathy 86",
        "description": "A developmental and epileptic encephalopathy characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112220",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112220",
            "name": "DEE86",
            "description": ""
        },
        {
            "id": "DOID:0112220",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112220",
            "name": "early infantile epileptic encephalopathy 86",
            "description": ""
        },
        {
            "id": "MONDO:0030054",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030054",
            "name": "developmental and epileptic encephalopathy, 86",
            "description": ""
        },
        {
            "id": "MONDO:0030054",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030054",
            "name": "DEE86",
            "description": ""
        },
        {
            "id": "MONDO:0030054",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030054",
            "name": "EIEE86",
            "description": ""
        },
        {
            "id": "MONDO:0030054",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030054",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86",
            "description": ""
        },
        {
            "id": "MONDO:0030054",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030054",
            "name": "developmental and epileptic encephalopathy 86",
            "description": ""
        },
        {
            "id": "MONDO:0030054",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030054",
            "name": "epileptic encephalopathy, early infantile, 86",
            "description": ""
        },
        {
            "id": "MIM:618910",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618910",
            "name": "Developmental and epileptic encephalopathy 86",
            "description": "Developmental and epileptic encephalopathy 86"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112220"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112220",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112220",
            "categories": []
        },
        {
            "id": "MONDO:0030054",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030054",
            "categories": []
        },
        {
            "id": "MIM:618910",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618910",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0JML8-1",
            "uniprot_ac": "A0JML8",
            "uniprot_id": "DALD3_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DALR anticodon-binding domain-containing protein 3",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "dalrd3",
                    "type": "recommended"
                },
                {
                    "name": "zgc:153958",
                    "type": "synonym"
                }
            ],
            "record_id": "A0JML8-1",
            "evidence": [
                {
                    "id": "0112220",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112220"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PJN8-1",
            "uniprot_ac": "Q6PJN8",
            "uniprot_id": "DALD3_MOUSE",
            "refseq_ac": "NP_080654",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DALR anticodon-binding domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "DALR anticodon-binding domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dalrd3",
                    "type": "recommended"
                },
                {
                    "name": "6330580J24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dalrd3",
                    "type": "synonym"
                },
                {
                    "name": "mir-425",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PJN8-1",
            "evidence": [
                {
                    "id": "0112220",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112220"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5D0E6-1",
            "uniprot_ac": "Q5D0E6",
            "uniprot_id": "DALD3_HUMAN",
            "refseq_ac": "NP_001009996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DALR anticodon-binding domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "DALR anticodon-binding domain-containing protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DALR anticodon-binding domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DALRD3",
                    "type": "recommended"
                },
                {
                    "name": "DALRD3",
                    "type": "synonym"
                },
                {
                    "name": "DEE86",
                    "type": "synonym"
                },
                {
                    "name": "EIEE86",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5D0E6-1",
            "evidence": [
                {
                    "id": "618910",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618910"
                },
                {
                    "id": "0112220",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112220"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q641Y9-1",
            "uniprot_ac": "Q641Y9",
            "uniprot_id": "DALD3_RAT",
            "refseq_ac": "NP_001014236",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DALR anticodon-binding domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "DALR anticodon-binding domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dalrd3",
                    "type": "recommended"
                },
                {
                    "name": "Dalrd3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q641Y9-1",
            "evidence": [
                {
                    "id": "0112220",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112220"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXT0-1",
            "uniprot_ac": "Q9VXT0",
            "uniprot_id": "Q9VXT0_DROME",
            "refseq_ac": "NP_001285279",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DALR anticodon binding domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "ArgRS-like protein",
                    "type": "synonym"
                },
                {
                    "name": "CG8097-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG8097",
                    "type": "recommended"
                },
                {
                    "name": "CG8097",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8097",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8097",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXT0-1",
            "evidence": [
                {
                    "id": "0112220",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112220"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112220"
}