{
    "disease_id": "DOID:0070509",
    "recommended_name": {
        "id": "DOID:0070509",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070509",
        "name": "Schinzel Giedion syndrome",
        "description": "An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070509",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070509",
            "name": "SGS",
            "description": ""
        },
        {
            "id": "DOID:0070509",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070509",
            "name": "Schinzel-Giedion midface retraction syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "Schinzel-Giedion syndrome",
            "description": "Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies."
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "SGS",
            "description": ""
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "Schinzel Giedion Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "Schinzel-Giedion midface-retraction syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "Schinzel-Giedion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "Schinzel Giedion midface-retraction syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010010",
            "name": "Schinzel Giedion syndrome",
            "description": ""
        },
        {
            "id": "MIM:269150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/269150",
            "name": "Schinzel-Giedion midface retraction syndrome",
            "description": "Schinzel-Giedion midface retraction syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070509"
    ],
    "unlinked_id_list": []
}