{
    "disease_id": "DOID:0051089",
    "recommended_name": {
        "id": "DOID:0051089",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051089",
        "name": "developmental and epileptic encephalopathy 120",
        "description": "A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that has_material_basis_in heterozygous mutation in the BAIAP2 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0980948",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980948",
            "name": "developmental and epileptic encephalopathy 120",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051089"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051089",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051089",
            "categories": []
        },
        {
            "id": "MONDO:0980948",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980948",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9UQB8-1",
            "uniprot_ac": "Q9UQB8",
            "uniprot_id": "BAIP2_HUMAN",
            "refseq_ac": "NP_001138360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BAR/IMD domain-containing adapter protein 2",
                    "type": "recommended"
                },
                {
                    "name": "BAI-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "BAI1 associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "BAI1-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "BAR/IMD domain-containing adapter protein 2 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "BAR/IMD domain-containing adapter protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Brain-specific angiogenesis inhibitor 1-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "FLAF3",
                    "type": "synonym"
                },
                {
                    "name": "Fas ligand-associated factor 3",
                    "type": "synonym"
                },
                {
                    "name": "IRS-58",
                    "type": "synonym"
                },
                {
                    "name": "IRSp53/58",
                    "type": "synonym"
                },
                {
                    "name": "IRSp53",
                    "type": "synonym"
                },
                {
                    "name": "Insulin receptor substrate p53/p58",
                    "type": "synonym"
                },
                {
                    "name": "Insulin receptor substrate p53",
                    "type": "synonym"
                },
                {
                    "name": "Insulin receptor substrate protein of 53 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Protein BAP2",
                    "type": "synonym"
                },
                {
                    "name": "WASP and MIM like",
                    "type": "synonym"
                },
                {
                    "name": "brain-specific angiogenesis inhibitor 1-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "fas ligand-associated factor 3",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor substrate of 53 kDa",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor substrate p53/p58",
                    "type": "synonym"
                },
                {
                    "name": "insulin receptor substrate protein of 53 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BAIAP2",
                    "type": "recommended"
                },
                {
                    "name": "BAIAP2",
                    "type": "synonym"
                },
                {
                    "name": "BAP2",
                    "type": "synonym"
                },
                {
                    "name": "DEE120",
                    "type": "synonym"
                },
                {
                    "name": "FLAF3",
                    "type": "synonym"
                },
                {
                    "name": "IRSP53",
                    "type": "synonym"
                },
                {
                    "name": "WAML",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UQB8-1",
            "evidence": [
                {
                    "id": "621468",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621468"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051089"
}