{
    "disease_id": "DOID:0060337",
    "recommended_name": {
        "id": "DOID:0060337",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060337",
        "name": "CEDNIK syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060337",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060337",
            "name": "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012290",
            "name": "CEDNIK syndrome",
            "description": "CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis."
        },
        {
            "id": "MONDO:0012290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012290",
            "name": "CEDNIK syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012290",
            "name": "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome",
            "description": ""
        },
        {
            "id": "MIM:609528",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609528",
            "name": "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome",
            "description": "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060337"
    ],
    "unlinked_id_list": []
}