{
    "disease_id": "DOID:0112217",
    "recommended_name": {
        "id": "DOID:0112217",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112217",
        "name": "developmental and epileptic encephalopathy 81",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112217",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112217",
            "name": "DEE81",
            "description": ""
        },
        {
            "id": "DOID:0112217",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112217",
            "name": "early infantile epileptic encephalopathy 81",
            "description": ""
        },
        {
            "id": "MONDO:0032858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032858",
            "name": "developmental and epileptic encephalopathy, 81",
            "description": ""
        },
        {
            "id": "MONDO:0032858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032858",
            "name": "DEE81",
            "description": ""
        },
        {
            "id": "MONDO:0032858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032858",
            "name": "EIEE81",
            "description": ""
        },
        {
            "id": "MONDO:0032858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032858",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81",
            "description": ""
        },
        {
            "id": "MONDO:0032858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032858",
            "name": "developmental and epileptic encephalopathy 81",
            "description": ""
        },
        {
            "id": "MONDO:0032858",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032858",
            "name": "epileptic encephalopathy, early infantile, 81",
            "description": ""
        },
        {
            "id": "MIM:618663",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618663",
            "name": "Developmental and epileptic encephalopathy 81",
            "description": "Developmental and epileptic encephalopathy 81"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112217"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112217",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112217",
            "categories": []
        },
        {
            "id": "MONDO:0032858",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032858",
            "categories": []
        },
        {
            "id": "MIM:618663",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618663",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BPN8-1",
            "uniprot_ac": "Q8BPN8",
            "uniprot_id": "DMXL2_MOUSE",
            "refseq_ac": "XP_006511148",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DmX-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Rabconnectin-3",
                    "type": "synonym"
                },
                {
                    "name": "dmX-like protein 2 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmxl2",
                    "type": "recommended"
                },
                {
                    "name": "6330586A12",
                    "type": "synonym"
                },
                {
                    "name": "6430411K14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dmxl2",
                    "type": "synonym"
                },
                {
                    "name": "E130119P06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0856",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0856",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BPN8-1",
            "evidence": [
                {
                    "id": "0112217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TDJ6-1",
            "uniprot_ac": "Q8TDJ6",
            "uniprot_id": "DMXL2_HUMAN",
            "refseq_ac": "NP_001167587",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DmX-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Rabconnectin-3",
                    "type": "synonym"
                },
                {
                    "name": "dmX-like protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dmX-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "rabconnectin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DMXL2",
                    "type": "recommended"
                },
                {
                    "name": "DEE81",
                    "type": "synonym"
                },
                {
                    "name": "DFNA71",
                    "type": "synonym"
                },
                {
                    "name": "DMXL2",
                    "type": "synonym"
                },
                {
                    "name": "EIEE81",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0856",
                    "type": "synonym"
                },
                {
                    "name": "PEPNS",
                    "type": "synonym"
                },
                {
                    "name": "RC3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TDJ6-1",
            "evidence": [
                {
                    "id": "618663",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618663"
                },
                {
                    "id": "0112217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47104-1",
            "uniprot_ac": "P47104",
            "uniprot_id": "RAV1_YEAST",
            "refseq_ac": "NP_012567",
            "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": "Regulator of V-ATPase in vacuolar membrane protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Rav1p",
                    "type": "synonym"
                },
                {
                    "name": "Suppression of the onset of impotence protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAV1",
                    "type": "recommended"
                },
                {
                    "name": "J1590",
                    "type": "synonym"
                },
                {
                    "name": "RAV1",
                    "type": "synonym"
                },
                {
                    "name": "SOI3",
                    "type": "synonym"
                }
            ],
            "record_id": "P47104-1",
            "evidence": [
                {
                    "id": "0112217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZMW1-1",
            "uniprot_ac": "A0A8I5ZMW1",
            "uniprot_id": "A0A8I5ZMW1_RAT",
            "refseq_ac": "NP_001414314",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dmx-like 2, pseudogene 1",
                    "type": "synonym"
                },
                {
                    "name": "Dmx-like 2",
                    "type": "synonym"
                },
                {
                    "name": "dmX-like protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dmX-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmxl2",
                    "type": "recommended"
                },
                {
                    "name": "Dmxl2-ps1",
                    "type": "synonym"
                },
                {
                    "name": "Dmxl2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZMW1-1",
            "evidence": [
                {
                    "id": "0112217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97607-1",
            "uniprot_ac": "P97607",
            "uniprot_id": "JAG2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein jagged-2",
                    "type": "recommended"
                },
                {
                    "name": "Jagged2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jag2",
                    "type": "recommended"
                }
            ],
            "record_id": "P97607-1",
            "evidence": [
                {
                    "id": "0112217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112217"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W425-1",
            "uniprot_ac": "Q9W425",
            "uniprot_id": "Q9W425_DROME",
            "refseq_ac": "NP_572302",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3585-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rabconnectin-3A",
                    "type": "synonym"
                },
                {
                    "name": "Rabconnectin-3alpha",
                    "type": "synonym"
                },
                {
                    "name": "Rbcn-3A-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbcn-3A",
                    "type": "recommended"
                },
                {
                    "name": "CG3585",
                    "type": "synonym"
                },
                {
                    "name": "DmX",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3585",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3585",
                    "type": "synonym"
                },
                {
                    "name": "Dmx",
                    "type": "synonym"
                },
                {
                    "name": "FV10",
                    "type": "synonym"
                },
                {
                    "name": "Rbcn-3A",
                    "type": "synonym"
                },
                {
                    "name": "X",
                    "type": "synonym"
                },
                {
                    "name": "anon-X",
                    "type": "synonym"
                },
                {
                    "name": "rbcn3A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W425-1",
            "evidence": [
                {
                    "id": "0112217",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112217"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112217"
}