{
    "disease_id": "DOID:0080678",
    "recommended_name": {
        "id": "DOID:0080678",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080678",
        "name": "mucolipidosis III gamma",
        "description": "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0009652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "name": "GNPTG-mucolipidosis",
            "description": "A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency."
        },
        {
            "id": "MONDO:0009652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "name": "GNPTG-mucolipidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "name": "ML 3 gamma",
            "description": ""
        },
        {
            "id": "MONDO:0009652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "name": "ML III gamma",
            "description": ""
        },
        {
            "id": "MONDO:0009652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "name": "mucolipidosis type 3 gamma",
            "description": ""
        },
        {
            "id": "MONDO:0009652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009652",
            "name": "mucolipidosis type III gamma",
            "description": ""
        },
        {
            "id": "MIM:252605",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252605",
            "name": "Mucolipidosis type III complementation group C",
            "description": "Mucolipidosis type III complementation group C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080678"
    ],
    "unlinked_id_list": []
}