{
    "disease_id": "DOID:0112102",
    "recommended_name": {
        "id": "DOID:0112102",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112102",
        "name": "Sotos syndrome 2",
        "description": "A Sotos syndrome that has_material_basis_in heterozygous mutation in NFIX on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0112102",
            "resource": "Disease Ontology",
            "url": "http://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": "Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies."
        },
        {
            "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 2; SOTOS2",
            "description": ""
        },
        {
            "id": "MONDO:0013885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013885",
            "name": "SOTOS2",
            "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": "Malan syndrome",
            "description": ""
        },
        {
            "id": "MIM:614753",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614753",
            "name": "Malan syndrome",
            "description": "Malan syndrome"
        }
    ]
}