{
    "disease_id": "DOID:0051087",
    "recommended_name": {
        "id": "DOID:0051087",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051087",
        "name": "developmental and epileptic encephalopathy 115",
        "description": "A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death and that has_material_basis_in homozygous or compound heterozygous mutation in the SNF8 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0968946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0968946",
            "name": "developmental and epileptic encephalopathy 115",
            "description": ""
        },
        {
            "id": "MIM:620783",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620783",
            "name": "Developmental and epileptic encephalopathy 115",
            "description": "Developmental and epileptic encephalopathy 115"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051087"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051087",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051087",
            "categories": []
        },
        {
            "id": "MONDO:0968946",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0968946",
            "categories": []
        },
        {
            "id": "MIM:620783",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620783",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q96H20-1",
            "uniprot_ac": "Q96H20",
            "uniprot_id": "SNF8_HUMAN",
            "refseq_ac": "NP_001304121",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar-sorting protein SNF8",
                    "type": "recommended"
                },
                {
                    "name": "EAP30 subunit of ELL complex",
                    "type": "synonym"
                },
                {
                    "name": "ELL-associated protein of 30 kDa",
                    "type": "synonym"
                },
                {
                    "name": "ESCRT-II complex subunit VPS22",
                    "type": "synonym"
                },
                {
                    "name": "SNF8, ESCRT-II complex subunit, homolog",
                    "type": "synonym"
                },
                {
                    "name": "hVps22",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar-sorting protein SNF8 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar-sorting protein SNF8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNF8",
                    "type": "recommended"
                },
                {
                    "name": "DEE115",
                    "type": "synonym"
                },
                {
                    "name": "Dot3",
                    "type": "synonym"
                },
                {
                    "name": "EAP30",
                    "type": "synonym"
                },
                {
                    "name": "NEDOA",
                    "type": "synonym"
                },
                {
                    "name": "SNF8",
                    "type": "synonym"
                },
                {
                    "name": "VPS22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96H20-1",
            "evidence": [
                {
                    "id": "620783",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620783"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051087"
}