{
    "disease_id": "DOID:0070473",
    "recommended_name": {
        "id": "DOID:0070473",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070473",
        "name": "Zaki syndrome",
        "description": "A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies."
    },
    "synonyms": [
        {
            "id": "MONDO:0859209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859209",
            "name": "Zaki syndrome",
            "description": ""
        },
        {
            "id": "MIM:619648",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619648",
            "name": "Zaki syndrome",
            "description": "Zaki syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070473"
    ],
    "unlinked_id_list": []
}