{
    "disease_id": "DOID:0080678", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009652", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009652", 
            "name": "mucolipidosis type III gamma"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009652", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009652", 
            "name": "mucolipidosis 3C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009652", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009652", 
            "name": "ML 3 gamma"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009652", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009652", 
            "name": "mucolipidosis III, Iranian variant form"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009652", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009652", 
            "name": "mucolipidosis III, variant form"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009652", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009652", 
            "name": "mucolipidosis 3 gamma"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009652", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009652", 
            "name": "ML 3C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009652", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009652", 
            "name": "ML III gamma"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009652", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009652", 
            "name": "mucolipidosis III, complementation group C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009652", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009652", 
            "name": "mucolipidosis type 3 gamma"
        }, 
        {
            "url": "https://www.omim.org/entry/252605", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:252605", 
            "name": "Mucolipidosis type III complementation group C"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080678", 
        "description": "A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080678", 
        "name": "mucolipidosis III gamma"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/252605", 
            "id": "252605", 
            "database": "MIM"
        }
    ]
}