{
    "disease_id": "DOID:0112122",
    "recommended_name": {
        "id": "DOID:0112122",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112122",
        "name": "X-linked epilepsy with variable learning disabilities and behavior disorders",
        "description": "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112122",
            "name": "X-linked epilepsy-learning disabilities-behavior disorders syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010339",
            "name": "epilepsy, X-linked 1, with variable learning disabilities and behavior disorders",
            "description": "An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)."
        },
        {
            "id": "MONDO:0010339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010339",
            "name": "X-linked epilepsy-learning disabilities-behavior disorders syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010339",
            "name": "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010339",
            "name": "epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010339",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010339",
            "name": "epilepsy, X-linked, with variable learning disabilities and behaviour disorders",
            "description": ""
        },
        {
            "id": "MIM:300491",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300491",
            "name": "Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders",
            "description": "Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112122"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112122",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112122",
            "categories": []
        },
        {
            "id": "MONDO:0010339",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010339",
            "categories": []
        },
        {
            "id": "MIM:300491",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300491",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0UXI4-1",
            "uniprot_ac": "B0UXI4",
            "uniprot_id": "B0UXI4_DANRE",
            "refseq_ac": "NP_001119909",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synapsin-1",
                    "type": "recommended"
                },
                {
                    "name": "Synapsin I",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "syn1",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-90n12.3",
                    "type": "synonym"
                },
                {
                    "name": "syn1",
                    "type": "synonym"
                }
            ],
            "record_id": "B0UXI4-1",
            "evidence": [
                {
                    "id": "0112122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88935-2",
            "uniprot_ac": "O88935",
            "uniprot_id": "SYN1_MOUSE",
            "refseq_ac": "NP_001104250",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synapsin-1",
                    "type": "recommended"
                },
                {
                    "name": "Synapsin I",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syn1",
                    "type": "recommended"
                },
                {
                    "name": "Syn-1",
                    "type": "synonym"
                },
                {
                    "name": "Syn1-S",
                    "type": "synonym"
                },
                {
                    "name": "Syn1",
                    "type": "synonym"
                }
            ],
            "record_id": "O88935-2",
            "evidence": [
                {
                    "id": "0112122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17600-1",
            "uniprot_ac": "P17600",
            "uniprot_id": "SYN1_HUMAN",
            "refseq_ac": "NP_008881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synapsin-1",
                    "type": "recommended"
                },
                {
                    "name": "Brain protein 4.1",
                    "type": "synonym"
                },
                {
                    "name": "Synapsin I",
                    "type": "synonym"
                },
                {
                    "name": "brain protein 4.1",
                    "type": "synonym"
                },
                {
                    "name": "synapsin Ib",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1 isoform Ia",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SYN1",
                    "type": "recommended"
                },
                {
                    "name": "EPILX1",
                    "type": "synonym"
                },
                {
                    "name": "EPILX",
                    "type": "synonym"
                },
                {
                    "name": "MRX50",
                    "type": "synonym"
                },
                {
                    "name": "SYN1a",
                    "type": "synonym"
                },
                {
                    "name": "SYN1b",
                    "type": "synonym"
                },
                {
                    "name": "SYN1",
                    "type": "synonym"
                },
                {
                    "name": "SYNI",
                    "type": "synonym"
                }
            ],
            "record_id": "P17600-1",
            "evidence": [
                {
                    "id": "300491",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300491"
                },
                {
                    "id": "0112122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09951-1",
            "uniprot_ac": "P09951",
            "uniprot_id": "SYN1_RAT",
            "refseq_ac": "NP_001104252",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synapsin-1",
                    "type": "recommended"
                },
                {
                    "name": "Synapsin I",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syn1",
                    "type": "recommended"
                },
                {
                    "name": "Syn1",
                    "type": "synonym"
                }
            ],
            "record_id": "P09951-1",
            "evidence": [
                {
                    "id": "0112122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24546-1",
            "uniprot_ac": "Q24546",
            "uniprot_id": "SYN_DROME",
            "refseq_ac": "NP_731457",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synapsin",
                    "type": "recommended"
                },
                {
                    "name": "CG3985-PA",
                    "type": "synonym"
                },
                {
                    "name": "Syn-PA",
                    "type": "synonym"
                },
                {
                    "name": "Syn1-S",
                    "type": "synonym"
                },
                {
                    "name": "Synapsin1",
                    "type": "synonym"
                },
                {
                    "name": "synapsin I",
                    "type": "synonym"
                },
                {
                    "name": "synapsin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "synapsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syn",
                    "type": "recommended"
                },
                {
                    "name": "CG3985",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3985",
                    "type": "synonym"
                },
                {
                    "name": "Dsyn-1",
                    "type": "synonym"
                },
                {
                    "name": "SYN1",
                    "type": "synonym"
                },
                {
                    "name": "SYN2",
                    "type": "synonym"
                },
                {
                    "name": "SYN",
                    "type": "synonym"
                },
                {
                    "name": "Syn-1",
                    "type": "synonym"
                },
                {
                    "name": "Syn-2",
                    "type": "synonym"
                },
                {
                    "name": "Syn",
                    "type": "synonym"
                },
                {
                    "name": "synapsin",
                    "type": "synonym"
                },
                {
                    "name": "syn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24546-1",
            "evidence": [
                {
                    "id": "0112122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53539-1",
            "uniprot_ac": "P53539",
            "uniprot_id": "FOSB_HUMAN",
            "refseq_ac": "NP_001107643",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein FosB",
                    "type": "recommended"
                },
                {
                    "name": "FBJ murine osteosarcoma viral oncogene homolog B",
                    "type": "synonym"
                },
                {
                    "name": "FosB proto-oncogene, AP-1 trancription factor subunit",
                    "type": "synonym"
                },
                {
                    "name": "FosB proto-oncogene, AP-1 transcription factor subunit",
                    "type": "synonym"
                },
                {
                    "name": "G0/G1 switch regulatory protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor AP-1 subunit FosB",
                    "type": "synonym"
                },
                {
                    "name": "activator protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein FosB isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor AP-1 subunit FosB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOSB",
                    "type": "recommended"
                },
                {
                    "name": "AP-1",
                    "type": "synonym"
                },
                {
                    "name": "FOSB",
                    "type": "synonym"
                },
                {
                    "name": "G0S3",
                    "type": "synonym"
                },
                {
                    "name": "GOS3",
                    "type": "synonym"
                },
                {
                    "name": "GOSB",
                    "type": "synonym"
                }
            ],
            "record_id": "P53539-1",
            "evidence": [
                {
                    "id": "0112122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112122"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112122"
}