{
    "disease_id": "DOID:0070035",
    "recommended_name": {
        "id": "DOID:0070035",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070035",
        "name": "autosomal dominant intellectual developmental disorder 5",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32."
    },
    "synonyms": [
        {
            "id": "DOID:0070035",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070035",
            "name": "MRD5",
            "description": ""
        },
        {
            "id": "DOID:0070035",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070035",
            "name": "autosomal dominant mental retardation 5",
            "description": ""
        },
        {
            "id": "DOID:0070035",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070035",
            "name": "autosomal dominant non-syndromic intellectual disability 5",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "intellectual disability, autosomal dominant 5",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene."
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "MRD5",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "SYNGAP1 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "SYNGAP1-related developmental and epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "autosomal dominant intellectual disability 5",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "epilepsy due to SYNGAP mutations",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "intellectual disability, autosomal dominant 5",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "intellectual disability, autosomal dominant type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "mental retardation, autosomal dominant type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "SYNGAP1 gene mutation linked to intellectual disability, schizophrenia and autism",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "SYNGAP1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "SYNGAP1-related NSID",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "SYNGAP1-related non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0012960",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "name": "mental retardation, autosomal dominant 5",
            "description": ""
        },
        {
            "id": "MIM:612621",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612621",
            "name": "Intellectual developmental disorder, autosomal dominant 5",
            "description": "Intellectual developmental disorder, autosomal dominant 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070035"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070035",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070035",
            "categories": []
        },
        {
            "id": "MONDO:0012960",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012960",
            "categories": []
        },
        {
            "id": "MIM:612621",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612621",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F1U4-1",
            "uniprot_ac": "E7F1U4",
            "uniprot_id": "E7F1U4_DANRE",
            "refseq_ac": "NP_001313396",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptic Ras GTPase activating protein 1b",
                    "type": "synonym"
                },
                {
                    "name": "synaptic Ras GTPase activating protein 1b",
                    "type": "synonym"
                },
                {
                    "name": "syngap1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "syngap1b",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-246f6.1",
                    "type": "synonym"
                },
                {
                    "name": "syngap1b",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F1U4-1",
            "evidence": [
                {
                    "id": "0070035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2B5U5-1",
            "uniprot_ac": "A0A8M2B5U5",
            "uniprot_id": "A0A8M2B5U5_DANRE",
            "refseq_ac": "XP_005159373",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras/Rap GTPase-activating protein SynGAP isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ras/Rap GTPase-activating protein SynGAP isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "syngap1a",
                    "type": "recommended"
                },
                {
                    "name": "syngap1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B5U5-1",
            "evidence": [
                {
                    "id": "0070035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F6SEU4-1",
            "uniprot_ac": "F6SEU4",
            "uniprot_id": "SYGP1_MOUSE",
            "refseq_ac": "NP_001268420",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras/Rap GTPase-activating protein SynGAP",
                    "type": "recommended"
                },
                {
                    "name": "Neuronal RasGAP",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic Ras GTPase-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic Ras-GAP 1",
                    "type": "synonym"
                },
                {
                    "name": "neuronal RasGAP",
                    "type": "synonym"
                },
                {
                    "name": "ras GTPase-activating protein SynGAP",
                    "type": "synonym"
                },
                {
                    "name": "ras/Rap GTPase-activating protein SynGAP isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ras/Rap GTPase-activating protein SynGAP",
                    "type": "synonym"
                },
                {
                    "name": "synaptic Ras GTPase-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "synaptic Ras-GAP 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syngap1",
                    "type": "recommended"
                },
                {
                    "name": "Gm1963",
                    "type": "synonym"
                },
                {
                    "name": "Syngap1",
                    "type": "synonym"
                },
                {
                    "name": "Syngap",
                    "type": "synonym"
                }
            ],
            "record_id": "F6SEU4-1",
            "evidence": [
                {
                    "id": "0070035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96PV0-1",
            "uniprot_ac": "Q96PV0",
            "uniprot_id": "SYGP1_HUMAN",
            "refseq_ac": "NP_001123538",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras/Rap GTPase-activating protein SynGAP",
                    "type": "recommended"
                },
                {
                    "name": "Neuronal RasGAP",
                    "type": "synonym"
                },
                {
                    "name": "Ras GTPase-activating protein SynGAP",
                    "type": "synonym"
                },
                {
                    "name": "Ras/Rap GTPase-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic Ras GTPase-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic Ras-GAP 1",
                    "type": "synonym"
                },
                {
                    "name": "neuronal RasGAP",
                    "type": "synonym"
                },
                {
                    "name": "ras/Rap GTPase-activating protein SynGAP isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ras/Rap GTPase-activating protein SynGAP",
                    "type": "synonym"
                },
                {
                    "name": "synaptic Ras GTPase activating protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "synaptic Ras GTPase activating protein, 135kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SYNGAP1",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1938",
                    "type": "synonym"
                },
                {
                    "name": "MRD5",
                    "type": "synonym"
                },
                {
                    "name": "RASA5",
                    "type": "synonym"
                },
                {
                    "name": "SYNGAP1",
                    "type": "synonym"
                },
                {
                    "name": "SYNGAP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96PV0-1",
            "evidence": [
                {
                    "id": "612621",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612621"
                },
                {
                    "id": "0070035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33314-1",
            "uniprot_ac": "P33314",
            "uniprot_id": "BUD2_YEAST",
            "refseq_ac": "NP_012831",
            "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": "Inhibitory regulator protein BUD2/CLA2",
                    "type": "recommended"
                },
                {
                    "name": "Bud site selection protein 2",
                    "type": "synonym"
                },
                {
                    "name": "GTPase-activating protein BUD2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BUD2",
                    "type": "recommended"
                },
                {
                    "name": "BUD2",
                    "type": "synonym"
                },
                {
                    "name": "CLA2",
                    "type": "synonym"
                },
                {
                    "name": "ERC25",
                    "type": "synonym"
                },
                {
                    "name": "YKL424",
                    "type": "synonym"
                }
            ],
            "record_id": "P33314-1",
            "evidence": [
                {
                    "id": "0070035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QUH6-1",
            "uniprot_ac": "Q9QUH6",
            "uniprot_id": "SYGP1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras/Rap GTPase-activating protein SynGAP",
                    "type": "recommended"
                },
                {
                    "name": "Neuronal RasGAP",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic Ras GTPase-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic Ras-GAP 1",
                    "type": "synonym"
                },
                {
                    "name": "p135 SynGAP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syngap1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9QUH6-1",
            "evidence": [
                {
                    "id": "0070035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8T498-1",
            "uniprot_ac": "Q8T498",
            "uniprot_id": "GAP2_DROME",
            "refseq_ac": "NP_001097012",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras GTPase-activating protein raskol",
                    "type": "recommended"
                },
                {
                    "name": "CG42684-PC",
                    "type": "synonym"
                },
                {
                    "name": "raskol, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "raskol-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "raskol",
                    "type": "recommended"
                },
                {
                    "name": "CG15816",
                    "type": "synonym"
                },
                {
                    "name": "CG32559",
                    "type": "synonym"
                },
                {
                    "name": "CG32560",
                    "type": "synonym"
                },
                {
                    "name": "CG42270",
                    "type": "synonym"
                },
                {
                    "name": "CG42684",
                    "type": "synonym"
                },
                {
                    "name": "CG5898",
                    "type": "synonym"
                },
                {
                    "name": "CG5960",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42684",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42684",
                    "type": "synonym"
                },
                {
                    "name": "FBpp0112350",
                    "type": "synonym"
                },
                {
                    "name": "raskol",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8T498-1",
            "evidence": [
                {
                    "id": "0070035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070035"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070035"
}