{
    "disease_id": "DOID:0112152",
    "recommended_name": {
        "id": "DOID:0112152",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112152",
        "name": "CHIME syndrome",
        "description": "A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "neuroectodermal dysplasia, CHIME type",
            "description": ""
        },
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "Zunich neuroectodermal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "congenital disorder of glycosylation due to PIGL deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "Zunich-Kaye syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "neuroectodermal syndrome, Zunich type",
            "description": ""
        },
        {
            "id": "DOID:0112152",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112152",
            "name": "PIGL-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "CHIME syndrome",
            "description": "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy."
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "CHIME syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "PIGL-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "Zunich-Kaye syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "congenital disorder of glycosylation due to PIGL deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "neuroectodermal dysplasia, CHIME type",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "neuroectodermal syndrome, Zunich type",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "CHIME",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010221",
            "name": "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome",
            "description": ""
        },
        {
            "id": "MIM:280000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/280000",
            "name": "Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome",
            "description": "Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112152"
    ],
    "unlinked_id_list": []
}