{
    "disease_id": "DOID:0112152", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010221", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010221", 
            "name": "Zunich neuroectodermal syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010221", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010221", 
            "name": "congenital disorder of glycosylation due to PIGL deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010221", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010221", 
            "name": "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010221", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010221", 
            "name": "PIGL-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010221", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010221", 
            "name": "neuroectodermal syndrome, Zunich type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010221", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010221", 
            "name": "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome; CHIME"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010221", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010221", 
            "name": "CHIME"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010221", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010221", 
            "name": "glycosylphosphatidylinositol biosynthesis defect 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010221", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010221", 
            "name": "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010221", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010221", 
            "name": "neuroectodermal dysplasia, CHIME type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010221", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010221", 
            "name": "Zunich-Kaye syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112152", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112152", 
            "name": "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112152", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112152", 
            "name": "PIGL-CDG"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112152", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112152", 
            "name": "neuroectodermal dysplasia, CHIME type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112152", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112152", 
            "name": "Zunich neuroectodermal syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112152", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112152", 
            "name": "congenital disorder of glycosylation due to PIGL deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112152", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112152", 
            "name": "neuroectodermal syndrome, Zunich type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112152", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112152", 
            "name": "Zunich-Kaye syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0112152", 
        "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 PIGL on chromosome 17p11.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0112152", 
        "name": "CHIME syndrome"
    }, 
    "evidence": [
        {
            "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PIGL/#!details", 
            "id": "PIGL", 
            "database": "Genomics England"
        }
    ]
}