{
    "disease_id": "DOID:0080565", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "DK1-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "dolichol kinase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "CDG syndrome type Im"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "hypotonia and ichthyosis due to dolichol phosphate deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "congenital disorder of glycosylation type Im"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "DOLK-CDG (CDG-Im)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "congenital disorder of glycosylation, type Im; CDG1M"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "CDG1M"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "Dk1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "CDG Im"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "congenital disorder of glycosylation type 1m"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "CDG-Im"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "CDGIm"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "carbohydrate deficient glycoprotein syndrome type Im"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012556", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012556", 
            "name": "congenital disorder of glycosylation, type Im"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080565", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080565", 
            "name": "DOLK-congenital disorder of glycosylation"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080565", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080565", 
            "name": "congenital disorder of glycosylation 1m"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080565", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080565", 
            "name": "dolichol kinase deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080565", 
        "description": "A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080565", 
        "name": "congenital disorder of glycosylation Im"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080565#disease-associations", 
            "id": "0080565", 
            "database": "Alliance of Genome Resources"
        }
    ]
}