{
    "disease_id": "DOID:0050880",
    "recommended_name": {
        "id": "DOID:0050880",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050880",
        "name": "Koolen de Vries syndrome",
        "description": "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050880",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050880",
            "name": "17q21.31 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050880",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050880",
            "name": "KANSL1-related intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050880",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050880",
            "name": "KdVS",
            "description": ""
        },
        {
            "id": "DOID:0050880",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050880",
            "name": "Koolen-De Vries syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "Koolen-de Vries syndrome",
            "description": "A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior."
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "KANSL1-related intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "KDVS",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "KdVS",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "Koolen de Vries syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "Koolen-De Vries syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "chromosome 17q21.31 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "microdeletion 17q21.31 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "17q21.31 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "Koolen-DE Vries syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012496",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012496",
            "name": "chromosome 17q21.31 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MIM:610443",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610443",
            "name": "Koolen-De Vries syndrome",
            "description": "Koolen-De Vries syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050880"
    ],
    "unlinked_id_list": []
}