{
    "disease_id": "DOID:0080070", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "mucolipidosis type II"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "ML disorder type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "ML 2 Alpha/Beta"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "mucolipidosis II"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "GNPTA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "N-acetylglucosamine 1-phosphotransferase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "I cell disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "I-cell disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "mucolipidosis 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "inclusion cell disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "N-acetylglucosamine 1phosphotransferase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "mucolipidosis 2 alpha/beta"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "ML 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "Leroy disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009650", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009650", 
            "name": "mucolipidosis type II alpha/beta"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080070", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080070", 
            "name": "inclusion-cell disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080070", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080070", 
            "name": "I-cell disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080070", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080070", 
            "name": "mucolipidosis II"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080070", 
        "description": "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080070", 
        "name": "mucolipidosis II alpha/beta"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080070#disease-associations", 
            "id": "0080070", 
            "database": "Alliance of Genome Resources"
        }
    ]
}