{
    "disease_id": "DOID:0080464",
    "recommended_name": {
        "id": "DOID:0080464",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080464",
        "name": "developmental and epileptic encephalopathy 53",
        "description": "A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080464",
            "name": "DEE53",
            "description": ""
        },
        {
            "id": "DOID:0080464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080464",
            "name": "early infantile epileptic encephalopathy 53",
            "description": ""
        },
        {
            "id": "MONDO:0033362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033362",
            "name": "developmental and epileptic encephalopathy, 53",
            "description": ""
        },
        {
            "id": "MONDO:0033362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033362",
            "name": "DEE53",
            "description": ""
        },
        {
            "id": "MONDO:0033362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033362",
            "name": "EIEE53",
            "description": ""
        },
        {
            "id": "MONDO:0033362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033362",
            "name": "developmental and epileptic encephalopathy 53",
            "description": ""
        },
        {
            "id": "MONDO:0033362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033362",
            "name": "epileptic encephalopathy, early infantile, 53",
            "description": ""
        },
        {
            "id": "MIM:617389",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617389",
            "name": "Developmental and epileptic encephalopathy 53",
            "description": "Developmental and epileptic encephalopathy 53"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080464"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080464",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080464",
            "categories": []
        },
        {
            "id": "MONDO:0033362",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033362",
            "categories": []
        },
        {
            "id": "MIM:617389",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617389",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B1N6-1",
            "uniprot_ac": "A0A8M2B1N6",
            "uniprot_id": "A0A8M2B1N6_DANRE",
            "refseq_ac": "XP_005155414",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptojanin-1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "synaptojanin-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "synj1",
                    "type": "recommended"
                },
                {
                    "name": "fb02f11",
                    "type": "synonym"
                },
                {
                    "name": "fi15a11",
                    "type": "synonym"
                },
                {
                    "name": "nrc",
                    "type": "synonym"
                },
                {
                    "name": "synj1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb02f11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi15a11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B1N6-1",
            "evidence": [
                {
                    "id": "0080464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CHC4-1",
            "uniprot_ac": "Q8CHC4",
            "uniprot_id": "SYNJ1_MOUSE",
            "refseq_ac": "NP_001038980",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyphosphatidylinositol phosphatase SYNJ1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate-5-phosphatase G",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase SYNJ1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-4-phosphatase SYNJ1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptojanin-1",
                    "type": "synonym"
                },
                {
                    "name": "synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "synaptojanin-1 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Synj1",
                    "type": "recommended"
                },
                {
                    "name": "A930006D20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0910",
                    "type": "synonym"
                },
                {
                    "name": "Synj1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0910",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CHC4-1",
            "evidence": [
                {
                    "id": "0080464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43426-1",
            "uniprot_ac": "O43426",
            "uniprot_id": "SYNJ1_HUMAN",
            "refseq_ac": "NP_003886",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyphosphatidylinositol phosphatase SYNJ1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate-5-phosphatase G",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase SYNJ1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-4-phosphatase SYNJ1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptojanin-1",
                    "type": "synonym"
                },
                {
                    "name": "inositol 5'-phosphatase (synaptojanin 1)",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate-5-phosphatase G",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide 5-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "synaptojanin-1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "synaptojanin-1, polyphosphoinositide phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SYNJ1",
                    "type": "recommended"
                },
                {
                    "name": "DEE53",
                    "type": "synonym"
                },
                {
                    "name": "EIEE53",
                    "type": "synonym"
                },
                {
                    "name": "INPP5G",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0910",
                    "type": "synonym"
                },
                {
                    "name": "PARK20",
                    "type": "synonym"
                },
                {
                    "name": "SYNJ1",
                    "type": "synonym"
                }
            ],
            "record_id": "O43426-1",
            "evidence": [
                {
                    "id": "617389",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617389"
                },
                {
                    "id": "0080464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50942-1",
            "uniprot_ac": "P50942",
            "uniprot_id": "INP52_YEAST",
            "refseq_ac": "NP_014293",
            "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": "Polyphosphatidylinositol phosphatase INP52",
                    "type": "recommended"
                },
                {
                    "name": "Synaptojanin-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-/phosphoinositide 5-phosphatase INP52",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INP52",
                    "type": "recommended"
                },
                {
                    "name": "INP52",
                    "type": "synonym"
                },
                {
                    "name": "N2160",
                    "type": "synonym"
                },
                {
                    "name": "SJL2",
                    "type": "synonym"
                }
            ],
            "record_id": "P50942-1",
            "evidence": [
                {
                    "id": "0080464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12271-1",
            "uniprot_ac": "Q12271",
            "uniprot_id": "INP53_YEAST",
            "refseq_ac": "NP_014752",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyphosphatidylinositol phosphatase INP53",
                    "type": "recommended"
                },
                {
                    "name": "Suppressor of PMA1 protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Synaptojanin-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-/phosphoinositide 5-phosphatase INP53",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INP53",
                    "type": "recommended"
                },
                {
                    "name": "INP53",
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                },
                {
                    "name": "SJL3",
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                },
                {
                    "name": "SOP2",
                    "type": "synonym"
                },
                {
                    "name": "YOR3231w",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40559-1",
            "uniprot_ac": "P40559",
            "uniprot_id": "INP51_YEAST",
            "refseq_ac": "NP_012264",
            "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": "Phosphatidylinositol 4,5-bisphosphate 5-phosphatase INP51",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "Synaptojanin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide 5-phosphatase INP51",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INP51",
                    "type": "recommended"
                },
                {
                    "name": "INP51",
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                },
                {
                    "name": "SJL1",
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                },
                {
                    "name": "YIA2C",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62910-1",
            "uniprot_ac": "Q62910",
            "uniprot_id": "SYNJ1_RAT",
            "refseq_ac": "NP_001401979",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyphosphatidylinositol phosphatase SYNJ1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate-5-phosphatase G",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase SYNJ1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-4-phosphatase SYNJ1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptojanin-1",
                    "type": "synonym"
                },
                {
                    "name": "synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "synaptojanin-1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Synj1",
                    "type": "recommended"
                },
                {
                    "name": "Synj1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080464"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080464"
}