{
    "disease_id": "DOID:0080468",
    "recommended_name": {
        "id": "DOID:0080468",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080468",
        "name": "developmental and epileptic encephalopathy 1",
        "description": "A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21."
    },
    "synonyms": [
        {
            "id": "DOID:0080468",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080468",
            "name": "X-linked infantile spasm syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0080468",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080468",
            "name": "DEE1",
            "description": ""
        },
        {
            "id": "DOID:0080468",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080468",
            "name": "early infantile epileptic encephalopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "developmental and epileptic encephalopathy, 1",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene."
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "ARX early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "DEE1",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "EIEE1",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "developmental and epileptic encephalopathy 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "early infantile epileptic encephalopathy caused by mutation in ARX",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "early infantile epileptic encephalopathy caused by mutation in arx",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "epileptic encephalopathy, early infantile, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "epileptic encephalopathy, early infantile, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010632",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "name": "XMESID",
            "description": ""
        },
        {
            "id": "MIM:308350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/308350",
            "name": "Developmental and epileptic encephalopathy 1",
            "description": "Developmental and epileptic encephalopathy 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080468"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080468",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080468",
            "categories": []
        },
        {
            "id": "MONDO:0010632",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010632",
            "categories": []
        },
        {
            "id": "MIM:308350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/308350",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A0A0G2KXF6",
            "uniprot_id": "A0A0G2KXF6_DANRE",
            "refseq_ac": "XP_002667096",
            "glycoprotein": "no",
            "species": [
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Aristaless-related homeobox protein",
                    "type": "synonym"
                },
                {
                    "name": "aristaless-related homeobox protein",
                    "type": "synonym"
                }
            ],
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                    "name": "arxb",
                    "type": "recommended"
                },
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                    "name": "arxb",
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        },
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                }
            ],
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                    "name": "Aristaless-related homeobox protein A",
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                },
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                    "name": "ARX-A",
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                    "name": "aristaless-related homeobox protein",
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                },
                {
                    "name": "etID309855.24",
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                    "name": "paired-like (aristaless) homeobox 2a",
                    "type": "synonym"
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                    "name": "arxa",
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                },
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                    "name": "arx",
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                },
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                    "name": "phox2a",
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        },
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            "species": [
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Homeobox protein ARX",
                    "type": "recommended"
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                    "name": "homeobox protein ARX",
                    "type": "synonym"
                }
            ],
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                    "name": "Arx",
                    "type": "recommended"
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                {
                    "name": "Arx1",
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                },
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                    "type": "synonym"
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        },
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            "glycoprotein": "yes",
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "aristaless-related homeobox, X-linked",
                    "type": "synonym"
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                    "name": "cancer/testis antigen 121",
                    "type": "synonym"
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                    "name": "homeobox protein ARX",
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            ],
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                    "name": "ARX",
                    "type": "recommended"
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                    "type": "synonym"
                },
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                    "name": "CT121",
                    "type": "synonym"
                },
                {
                    "name": "EIEE1",
                    "type": "synonym"
                },
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                    "name": "ISSX",
                    "type": "synonym"
                },
                {
                    "name": "MRX29",
                    "type": "synonym"
                },
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                    "name": "MRX32",
                    "type": "synonym"
                },
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                    "name": "MRX33",
                    "type": "synonym"
                },
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                    "type": "synonym"
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                    "name": "MRX38",
                    "type": "synonym"
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                    "name": "MRX43",
                    "type": "synonym"
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                    "name": "MRX54",
                    "type": "synonym"
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                    "name": "MRX76",
                    "type": "synonym"
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                    "name": "MRX87",
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                    "name": "MRXS1",
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                    "name": "PRTS",
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                    "id": "0080468",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080468"
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            "uniprot_ac": "Q04116",
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            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
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            ],
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                {
                    "name": "Homeobox protein YHP1",
                    "type": "recommended"
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            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080468"
}