{
    "disease_id": "DOID:0060428",
    "recommended_name": {
        "id": "DOID:0060428",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060428",
        "name": "SATB2-associated syndrome",
        "description": "A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak,  severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2."
    },
    "synonyms": [
        {
            "id": "DOID:0060428",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060428",
            "name": "chromosome 2q32-q33 deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060428",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060428",
            "name": "2q32-q33 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060428",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060428",
            "name": "2q32q33 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060428",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060428",
            "name": "Glass syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060428",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060428",
            "name": "monosomy 2q32",
            "description": ""
        },
        {
            "id": "DOID:0060428",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060428",
            "name": "monosomy 2q32-q33",
            "description": ""
        },
        {
            "id": "DOID:0060428",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060428",
            "name": "monosomy 2q32q33",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "chromosome 2q32-q33 deletion syndrome",
            "description": "2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features."
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "SATB2 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "monosomy 2q32-q33",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "glass",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "monosomy 2q32",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "glass syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "2q32q33 microdeletion syndromes",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "SAS",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "glass syndrome; glass",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "SATB2-associated syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "monosomy 2q32q33",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "Del(2)(q32q33)",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "chromosome 2q32-q33 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "2q32-q33 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "Del(2)(q32)",
            "description": ""
        },
        {
            "id": "MONDO:0012864",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012864",
            "name": "2q32q33 microdeletion syndrome",
            "description": ""
        }
    ]
}