{
  "id": 18859,
  "label": "mucopolysaccharidosis type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018937",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 7061,
      "label": "bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6893
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080001",
          "EFO:0004260",
          "ICD10CM:M80-M85",
          "ICD9:731.8",
          "ICD9:733.99",
          "MEDGEN:14182",
          "MESH:D001847",
          "NANDO:2100291",
          "NANDO:2100293",
          "SCTID:76069003",
          "UMLS:C0005940"
        ],
        "synonyms": [
          "bone element disease",
          "bone element disease or disorder",
          "disease of bone element",
          "disease or disorder of bone element",
          "disorder of bone element",
          "rare bone disease related to a common gene or pathway defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Diseases of bones."
      },
      "child_count": 27,
      "reference_id": "MONDO:0005381"
    },
    {
      "id": 19111,
      "label": "mucopolysaccharidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4625,
        16198,
        19082,
        24093
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12798",
          "GARD:0007065",
          "ICD9:277.5",
          "MEDGEN:7733",
          "MESH:D009083",
          "MedDRA:10028093",
          "NCIT:C61259",
          "NORD:1461",
          "OMIMPS:607014",
          "Orphanet:79213",
          "SCTID:11380006",
          "UMLS:C0026703",
          "icd11.foundation:1596128696"
        ],
        "synonyms": [
          "Mucopolysaccharidoses",
          "mucopolysaccharidoses",
          "mucopolysaccharidosis",
          "MPS"
        ],
        "definition": "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies."
      },
      "child_count": 32,
      "reference_id": "MONDO:0019249"
    }
  ],
  "children": [
    {
      "id": 10869,
      "label": "mucopolysaccharidosis type 3A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18859,
        24806
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009655"
    },
    {
      "id": 10870,
      "label": "mucopolysaccharidosis type 3B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18859,
        24806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111394",
          "GARD:0007072",
          "MEDGEN:88601",
          "NANDO:1200102",
          "NANDO:2201175",
          "NCIT:C84898",
          "OMIM:252920",
          "Orphanet:79270",
          "SCTID:59990008",
          "UMLS:C0086648",
          "icd11.foundation:117303909"
        ],
        "synonyms": [
          "MPS III B",
          "MPS3B",
          "MPSIIIB",
          "N-acetyl-alpha-glucosaminidase deficiency",
          "Sanfilippo B",
          "Sanfilippo syndrome B",
          "Sanfilippo syndrome type B",
          "mucopolysaccharidosis type 3B",
          "mucopolysaccharidosis type IIIB",
          "MPS 3B",
          "MPS IIIB",
          "Mucopoly-saccharidosis type 3B",
          "N-Acetyl-Alpha-D-glucosaminidase deficiency",
          "NAGLU deficiency",
          "mucopolysaccharidosis, type 3B",
          "mucopolysaccharidosis, type IIIB"
        ],
        "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 N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009656"
    },
    {
      "id": 10871,
      "label": "mucopolysaccharidosis type 3C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18859,
        24806
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009657"
    },
    {
      "id": 10872,
      "label": "mucopolysaccharidosis type 3D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18859,
        24806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111402",
          "GARD:0007074",
          "MEDGEN:88602",
          "NANDO:1200104",
          "NANDO:2201177",
          "NCIT:C84900",
          "OMIM:252940",
          "Orphanet:79272",
          "SCTID:15892005",
          "UMLS:C0086650",
          "icd11.foundation:1780990193"
        ],
        "synonyms": [
          "GNS deficiency",
          "MPS III D",
          "MPS3D",
          "MPSIIID",
          "Sanfilippo D",
          "Sanfilippo syndrome D",
          "Sanfilippo syndrome type D",
          "glucosamine N-acetyl-6-sulfatase deficiency",
          "mucopolysaccharidosis type 3D",
          "mucopolysaccharidosis type IIID",
          "MPS 3D",
          "MPS IIID",
          "Mucopoly-saccharidosis type 3D",
          "N-acetylglucosamine-6-sulfatase deficiency",
          "N-acetylglucosamine-6-sulfate sulfatase deficiency",
          "mucopolysaccharidosis, type 3D",
          "mucopolysaccharidosis, type IIID"
        ],
        "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 N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009658"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7061,
      "label": "bone disorder"
    },
    {
      "id": 19111,
      "label": "mucopolysaccharidosis"
    }
  ]
}