{
    "disease_id": "DOID:0080570", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "PGM1-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "congenital disorder of glycosylation type It"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "CDG it"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "type 14 glycogenosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "congenital disorder of glycosylation, type It; CDG1T"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "CDG1T"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "glycogen storage disease due to phosphoglucomutase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "GSD type 14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "phosphoglucomutase 1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "congenital disorder of glycosylation type 1t"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "CDG-It"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "Pgm1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "congenital disorder of glycosylation, type It"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "glycogen storage disease 14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "GSDXIV"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "GSD 14"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "phosphoglucomutase deficiency type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "phosphoglucomutase-1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013968", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013968", 
            "name": "CDG syndrome type It"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080570", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080570", 
            "name": "congenital disorder of glycosylation 1t"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080570", 
        "description": "A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080570", 
        "name": "congenital disorder of glycosylation It"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080570#disease-associations", 
            "id": "0080570", 
            "database": "Alliance of Genome Resources"
        }
    ]
}