{
  "id": 10869,
  "label": "mucopolysaccharidosis type 3A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009655",
  "properties": {
    "xrefs": [
      "DOID:0111395",
      "GARD:0007071",
      "MEDGEN:39264",
      "NANDO:1200101",
      "NANDO:2201174",
      "NCIT:C84897",
      "OMIM:252900",
      "Orphanet:79269",
      "SCTID:41572006",
      "UMLS:C0086647",
      "icd11.foundation:182200345"
    ],
    "synonyms": [
      "MPS III A",
      "MPS3A",
      "MPSIIIA",
      "Sanfilippo A",
      "Sanfilippo syndrome a",
      "Sanfilippo syndrome type A",
      "heparan sulfamidase deficiency",
      "mucopolysaccharidosis type 3A",
      "mucopolysaccharidosis type IIIA",
      "MPS 3A",
      "MPS IIIA",
      "heparan sulfate sulfatase deficiency",
      "heparan sulphate sulfatase deficiency",
      "heparane sulfamidase deficiency",
      "mucopoly-saccharidosis type 3A",
      "mucopolysaccharidosis, type 3A",
      "mucopolysaccharidosis, type IIIA",
      "sulfamidase deficiency"
    ],
    "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 heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures."
  },
  "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"
    }
  ]
}