{
    "disease_id": "DOID:0112103",
    "recommended_name": {
        "id": "DOID:0112103",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112103",
        "name": "Sotos syndrome 1",
        "description": "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0112103",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112103",
            "name": "SOTOS1",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "Sotos syndrome",
            "description": "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability."
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "NSD1 Sotos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "Sotos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "Sotos syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "Sotos syndrome caused by mutation in NSD1",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "Sotos syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "Sotos' syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "cerebral gigantism",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "cerebral gigantism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "chromosome 5q35 deletion syndrome",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
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            "description": ""
        },
        {
            "id": "MONDO:0019349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "name": "distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development",
            "description": ""
        },
        {
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/117550",
            "name": "Sotos syndrome",
            "description": "Sotos syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112103"
    ],
    "unlinked_id_list": [],
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            "id": "DOID:0112103",
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            "url": "https://disease-ontology.org/term/DOID:0112103",
            "categories": []
        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0019349",
            "categories": []
        },
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            "id": "MIM:117550",
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            "url": "https://www.omim.org/entry/117550",
            "categories": []
        }
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                    "id": "0112103",
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            ]
        },
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            "uniprot_canonical_ac": "O88491-1",
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                    "name": "Mus musculus",
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                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase NSD3",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.370",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.371",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear SET domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase NSD3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsd3",
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                },
                {
                    "name": "Nsd3",
                    "type": "synonym"
                },
                {
                    "name": "Whsc1l1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K001-1",
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                {
                    "id": "0112103",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MT36-1",
            "uniprot_ac": "Q8MT36",
            "uniprot_id": "NSD_DROME",
            "refseq_ac": "NP_733239",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear receptor binding SET domain protein",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.357",
                    "type": "synonym"
                },
                {
                    "name": "CG4976-PA",
                    "type": "synonym"
                },
                {
                    "name": "Maternal-effect sterile 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Mes-4",
                    "type": "synonym"
                },
                {
                    "name": "NSD-PA",
                    "type": "synonym"
                },
                {
                    "name": "Probable histone-lysine N-methyltransferase Mes-4",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor binding SET domain protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NSD",
                    "type": "recommended"
                },
                {
                    "name": "CG4976",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4976",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4976",
                    "type": "synonym"
                },
                {
                    "name": "MES-4",
                    "type": "synonym"
                },
                {
                    "name": "Mes-4",
                    "type": "synonym"
                },
                {
                    "name": "NSD",
                    "type": "synonym"
                },
                {
                    "name": "dMES-4",
                    "type": "synonym"
                },
                {
                    "name": "dMes-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MT36-1",
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                {
                    "id": "0112103",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112103"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96028-1",
            "uniprot_ac": "O96028",
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            "refseq_ac": "NP_001035889",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase NSD2",
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                },
                {
                    "name": "2.1.1.357",
                    "type": "synonym"
                },
                {
                    "name": "IL5 promoter REII region-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "MMSET",
                    "type": "synonym"
                },
                {
                    "name": "Multiple myeloma SET domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear SET domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein trithorax-5",
                    "type": "synonym"
                },
                {
                    "name": "Wolf-Hirschhorn syndrome candidate 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Wolf-Hirschhorn syndrome candidate 1",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase NSD2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple myeloma SET domain containing protein type III",
                    "type": "synonym"
                },
                {
                    "name": "nuclear SET domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "probable histone-lysine N-methyltransferase NSD2",
                    "type": "synonym"
                },
                {
                    "name": "trithorax/ash1-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NSD2",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1090",
                    "type": "synonym"
                },
                {
                    "name": "KMT3F",
                    "type": "synonym"
                },
                {
                    "name": "KMT3G",
                    "type": "synonym"
                },
                {
                    "name": "MMSET",
                    "type": "synonym"
                },
                {
                    "name": "NSD2",
                    "type": "synonym"
                },
                {
                    "name": "RAUST",
                    "type": "synonym"
                },
                {
                    "name": "REIIBP",
                    "type": "synonym"
                },
                {
                    "name": "TRX5",
                    "type": "synonym"
                },
                {
                    "name": "WHSC1",
                    "type": "synonym"
                },
                {
                    "name": "WHS",
                    "type": "synonym"
                }
            ],
            "record_id": "O96028-1",
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                {
                    "id": "0112103",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112103"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BZ95-1",
            "uniprot_ac": "Q9BZ95",
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            "refseq_ac": "NP_060248",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase NSD3",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.370",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.371",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear SET domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein whistle",
                    "type": "synonym"
                },
                {
                    "name": "WHSC1-like 1 isoform 9 with methyltransferase activity to lysine",
                    "type": "synonym"
                },
                {
                    "name": "WHSC1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Wolf-Hirschhorn syndrome candidate 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Wolf-Hirschhorn syndrome candidate 1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase NSD3 isoform short",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase NSD3",
                    "type": "synonym"
                },
                {
                    "name": "nuclear SET domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "protein whistle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NSD3",
                    "type": "recommended"
                },
                {
                    "name": "DC28",
                    "type": "synonym"
                },
                {
                    "name": "KMT3F",
                    "type": "synonym"
                },
                {
                    "name": "KMT3G",
                    "type": "synonym"
                },
                {
                    "name": "NSD3",
                    "type": "synonym"
                },
                {
                    "name": "WHISTLE",
                    "type": "synonym"
                },
                {
                    "name": "WHSC1L1",
                    "type": "synonym"
                },
                {
                    "name": "pp14328",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZ95-1",
            "evidence": [
                {
                    "id": "0112103",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112103"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112103"
}