{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012290", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012290", 
            "name": "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012290", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012290", 
            "name": "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012290", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012290", 
            "name": "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060337", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060337", 
            "name": "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome"
        }, 
        {
            "url": "https://www.omim.org/entry/609528", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:609528", 
            "name": "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060337", 
        "description": "A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060337", 
        "name": "CEDNIK syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/609528", 
            "id": "609528", 
            "database": "MIM"
        }
    ]
}