{
    "disease_id": "DOID:0111393",
    "recommended_name": {
        "id": "DOID:0111393",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111393",
        "name": "mucopolysaccharidosis type IIIC",
        "description": "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111393",
            "name": "HGSNAT deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111393",
            "name": "MPS3C",
            "description": ""
        },
        {
            "id": "DOID:0111393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111393",
            "name": "MPSIIIC",
            "description": ""
        },
        {
            "id": "DOID:0111393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111393",
            "name": "Mucopolysaccharidosis type 3C",
            "description": ""
        },
        {
            "id": "DOID:0111393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111393",
            "name": "Sanfilippo syndrome type C",
            "description": ""
        },
        {
            "id": "DOID:0111393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111393",
            "name": "mucopolysaccharidosis type IIIC (Sanfilippo C)",
            "description": ""
        },
        {
            "id": "DOID:0111393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111393",
            "name": "Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111393",
            "name": "Heparan-alpha-glucosaminide N-acetyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "mucopolysaccharidosis type 3C",
            "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays."
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "HGSNAT deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "MPS III C",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "MPS3C",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "MPSIIIC",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "Sanfilippo C",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "Sanfilippo syndrome type C",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "heparan-alpha-glucosaminide N-acetyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "mucopolysaccharidosis type 3C",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "mucopolysaccharidosis type IIIC",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "MPS IIIC",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "Mucopoly-saccharidosis type 3C",
            "description": ""
        },
        {
            "id": "MONDO:0009657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009657",
            "name": "mucopolysaccharidosis, type IIIC",
            "description": ""
        },
        {
            "id": "MIM:252930",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252930",
            "name": "Mucopolysaccharidosis 3C",
            "description": "Mucopolysaccharidosis 3C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111393"
    ],
    "unlinked_id_list": []
}