{
  "id": 10871,
  "label": "mucopolysaccharidosis type 3C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009657",
  "properties": {
    "xrefs": [
      "DOID:0111393",
      "GARD:0007073",
      "MEDGEN:39477",
      "NANDO:1200103",
      "NANDO:2201176",
      "NCIT:C84899",
      "OMIM:252930",
      "Orphanet:79271",
      "SCTID:75238000",
      "UMLS:C0086649",
      "icd11.foundation:1755913480"
    ],
    "synonyms": [
      "HGSNAT deficiency",
      "MPS III C",
      "MPS3C",
      "MPSIIIC",
      "Sanfilippo C",
      "Sanfilippo syndrome type C",
      "heparan-alpha-glucosaminide N-acetyltransferase deficiency",
      "mucopolysaccharidosis type 3C",
      "mucopolysaccharidosis type IIIC",
      "Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency",
      "MPS 3C",
      "MPS IIIC",
      "Mucopoly-saccharidosis type 3C",
      "Sanfilippo syndrome C",
      "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency",
      "mucopolysaccharidosis, type 3C",
      "mucopolysaccharidosis, type IIIC"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18859,
      "label": "mucopolysaccharidosis type 3",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7061,
        19111
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12801",
          "GARD:0003807",
          "MEDGEN:6452",
          "MedDRA:10056890",
          "NANDO:1200100",
          "NANDO:2200549",
          "NCIT:C61262",
          "NORD:1463",
          "Orphanet:581",
          "SCTID:88393000",
          "UMLS:C0026706",
          "icd11.foundation:1477250013"
        ],
        "synonyms": [
          "MPS3",
          "MPSIII",
          "Mucopoly-saccharidosis type 3",
          "Mucopolysaccharidosis Type III",
          "Sanfilippo disease",
          "Sanfilippo syndrome",
          "heparan sulphate sulfatase deficiency",
          "mucopolysaccharidosis type III"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A lysosomal disease characterized by progressive neurocognitive decline, severe  intellectual deterioration, loss of functional abilities, and premature death."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018937"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019203",
          "ICD9:756.9",
          "Orphanet:93448",
          "SCTID:254069004",
          "SCTID:279081001"
        ],
        "synonyms": [
          "dysostosis multiplex"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 25,
      "reference_id": "MONDO:0800088"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18859,
      "label": "mucopolysaccharidosis type 3"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}