{
    "disease_id": "DOID:0060352",
    "recommended_name": {
        "id": "DOID:0060352",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060352",
        "name": "Kleefstra syndrome 1",
        "description": "A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region."
    },
    "synonyms": [
        {
            "id": "DOID:0060352",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060352",
            "name": "9q subtelomeric deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060352",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060352",
            "name": "9q-syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060352",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060352",
            "name": "9q34 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "Kleefstra syndrome 1",
            "description": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3."
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "9q-syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "KLEFS1",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "Kleefstra syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "chromosome 9q34.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0027407",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027407",
            "name": "Kleefstra syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:610253",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610253",
            "name": "Kleefstra syndrome 1",
            "description": "Kleefstra syndrome 1"
        }
    ]
}