{
    "disease_id": "DOID:0080070",
    "recommended_name": {
        "id": "DOID:0080070",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080070",
        "name": "mucolipidosis II alpha/beta",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0080070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080070",
            "name": "I-cell disease",
            "description": ""
        },
        {
            "id": "DOID:0080070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080070",
            "name": "mucolipidosis II",
            "description": ""
        },
        {
            "id": "DOID:0080070",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080070",
            "name": "inclusion-cell disease",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "mucolipidosis type II",
            "description": "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly."
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "I Cell Disease",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "I-cell disease",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "N-acetylglucosamine 1-phosphotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "mucolipidosis type II",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "mucolipidosis type II alpha/beta",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "GNPTA",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "I cell disease",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "Leroy disease",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "ML 2",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "ML disorder type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "N-acetylglucosamine 1phosphotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009650",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009650",
            "name": "inclusion cell disease",
            "description": ""
        },
        {
            "id": "MIM:252500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252500",
            "name": "Mucolipidosis type II",
            "description": "Mucolipidosis type II"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080070"
    ],
    "unlinked_id_list": []
}