{
    "disease_id": "DOID:0112358",
    "recommended_name": {
        "id": "DOID:0112358",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112358",
        "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2",
        "description": "A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112358",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112358",
            "name": "SSFSC2",
            "description": ""
        },
        {
            "id": "MONDO:0030953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030953",
            "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2",
            "description": ""
        },
        {
            "id": "MONDO:0030953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030953",
            "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0030953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030953",
            "name": "SSFSC2",
            "description": ""
        },
        {
            "id": "MONDO:0030953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030953",
            "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2",
            "description": ""
        },
        {
            "id": "MIM:619184",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619184",
            "name": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2",
            "description": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112358"
    ],
    "unlinked_id_list": []
}