{
    "disease_id": "DOID:0112102",
    "recommended_name": {
        "id": "DOID:0112102",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112102",
        "name": "Sotos syndrome 2",
        "description": "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0112102",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112102",
            "name": "SOTOS2",
            "description": ""
        },
        {
            "id": "MONDO:0013885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013885",
            "name": "Malan overgrowth syndrome",
            "description": "A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness."
        },
        {
            "id": "MONDO:0013885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013885",
            "name": "Sotos syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013885",
            "name": "Sotos syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013885",
            "name": "SOTOS2",
            "description": ""
        },
        {
            "id": "MIM:614753",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614753",
            "name": "Malan syndrome",
            "description": "Malan syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112102"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112102",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112102",
            "categories": []
        },
        {
            "id": "MONDO:0013885",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013885",
            "categories": []
        },
        {
            "id": "MIM:614753",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614753",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AQR1-1",
            "uniprot_ac": "A0A8M3AQR1",
            "uniprot_id": "A0A8M3AQR1_DANRE",
            "refseq_ac": "XP_009297562",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor 1",
                    "type": "recommended"
                },
                {
                    "name": "nuclear factor I/Xb isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nfixb",
                    "type": "recommended"
                },
                {
                    "name": "nfixb",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136878",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AQR1-1",
            "evidence": [
                {
                    "id": "0112102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB13A7X8-1",
            "uniprot_ac": "A0AB13A7X8",
            "uniprot_id": "A0AB13A7X8_DANRE",
            "refseq_ac": "NP_001353100",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor 1",
                    "type": "recommended"
                },
                {
                    "name": "nuclear factor 1 X-type",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor I/Xa isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nfixa",
                    "type": "recommended"
                },
                {
                    "name": "nfixa",
                    "type": "synonym"
                },
                {
                    "name": "nfix",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A7X8-1",
            "evidence": [
                {
                    "id": "0112102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70257-3",
            "uniprot_ac": "P70257",
            "uniprot_id": "NFIX_MOUSE",
            "refseq_ac": "NP_001075451",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor 1 X-type",
                    "type": "recommended"
                },
                {
                    "name": "CCAAT-box-binding transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "CTF",
                    "type": "synonym"
                },
                {
                    "name": "NF-I/X",
                    "type": "synonym"
                },
                {
                    "name": "NF1-X",
                    "type": "synonym"
                },
                {
                    "name": "NFI-X",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor 1/X",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor I/X",
                    "type": "synonym"
                },
                {
                    "name": "TGGCA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1 X-type isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1 X-type",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1/X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfix",
                    "type": "recommended"
                },
                {
                    "name": "CTF",
                    "type": "synonym"
                },
                {
                    "name": "NF-I/X",
                    "type": "synonym"
                },
                {
                    "name": "NF1-X",
                    "type": "synonym"
                },
                {
                    "name": "NFI-X",
                    "type": "synonym"
                },
                {
                    "name": "Nfix",
                    "type": "synonym"
                }
            ],
            "record_id": "P70257-3",
            "evidence": [
                {
                    "id": "0112102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14938-1",
            "uniprot_ac": "Q14938",
            "uniprot_id": "NFIX_HUMAN",
            "refseq_ac": "NP_001257973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor 1 X-type",
                    "type": "recommended"
                },
                {
                    "name": "CCAAT-box-binding transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "CTF",
                    "type": "synonym"
                },
                {
                    "name": "NF-I/X",
                    "type": "synonym"
                },
                {
                    "name": "NF1-X",
                    "type": "synonym"
                },
                {
                    "name": "NFI-X",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor 1/X",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor I/X",
                    "type": "synonym"
                },
                {
                    "name": "TGGCA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1 X-type isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1 X-type",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor 1/X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NFIX",
                    "type": "recommended"
                },
                {
                    "name": "CTF",
                    "type": "synonym"
                },
                {
                    "name": "MALNS",
                    "type": "synonym"
                },
                {
                    "name": "MRSHSS",
                    "type": "synonym"
                },
                {
                    "name": "NF-I/X",
                    "type": "synonym"
                },
                {
                    "name": "NF1-X",
                    "type": "synonym"
                },
                {
                    "name": "NF1A",
                    "type": "synonym"
                },
                {
                    "name": "NFIX",
                    "type": "synonym"
                },
                {
                    "name": "SOTOS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14938-1",
            "evidence": [
                {
                    "id": "614753",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614753"
                },
                {
                    "id": "0112102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112102"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K1B6-1",
            "uniprot_ac": "A0A0G2K1B6",
            "uniprot_id": "A0A0G2K1B6_RAT",
            "refseq_ac": "XP_063134373",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor 1",
                    "type": "recommended"
                },
                {
                    "name": "nuclear factor 1 X-type isoform X5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfix",
                    "type": "recommended"
                },
                {
                    "name": "Nf1x",
                    "type": "synonym"
                },
                {
                    "name": "Nfix",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K1B6-1",
            "evidence": [
                {
                    "id": "0112102",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112102"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112102"
}