{
  "id": 18860,
  "label": "mucopolysaccharidosis type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018938",
  "properties": {
    "xrefs": [
      "DOID:12804",
      "GARD:0012562",
      "MEDGEN:44513",
      "MedDRA:10028095",
      "NANDO:1200105",
      "NANDO:2200550",
      "NCIT:C61263",
      "NORD:1455",
      "Orphanet:582",
      "SCTID:378007",
      "UMLS:C0026707",
      "icd11.foundation:2078241550"
    ],
    "synonyms": [
      "MPS4",
      "MPSIV",
      "Morquio disease",
      "Morquio syndrome",
      "Mucopolysaccharidosis IV",
      "eccentro-osteochondrodysplasia",
      "eccentrochondrodysplasia",
      "eccentroosteochondrodysplasia",
      "mucopolysaccharidosis IV",
      "mucopolysaccharidosis type 4",
      "mucopolysaccharidosis type IV",
      "MPS IV - Morquio syndrome A",
      "MPS IV - Morquio syndrome B",
      "Morquio A disease",
      "Morquio syndrome A",
      "deficiency of N-acetylgalactosamine-6-sulphatase",
      "galactosamine-6-sulfatase deficiency",
      "mucopolysaccharidosis type IVA",
      "mucopolysaccharidosis type IVB",
      "mucopolysaccharidosis, MPS-IV-A"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 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": 10863,
      "label": "Morquio syndrome C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18860
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007059",
          "MEDGEN:443986",
          "MESH:C536247",
          "OMIM:252300",
          "UMLS:C2931140"
        ],
        "synonyms": [
          "Morquio syndrome C",
          "Morquio syndrome type C",
          "Morquio syndrome, Nonkeratosulfate-Excreting type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009647"
    },
    {
      "id": 10873,
      "label": "mucopolysaccharidosis type 4A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18860,
        24806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111391",
          "GARD:0003785",
          "ICD10CM:E76.210",
          "MEDGEN:43375",
          "NANDO:1200106",
          "NANDO:2201178",
          "NCIT:C84901",
          "OMIM:253000",
          "Orphanet:309297",
          "SCTID:7259005",
          "UMLS:C0086651",
          "icd11.foundation:1919173641"
        ],
        "synonyms": [
          "Morquio A disease",
          "GALNS deficiency",
          "MPS IV A",
          "MPS4A",
          "MPSIVA",
          "Morquio disease type A",
          "Morquio syndrome A",
          "N-acetylgalactosamine-6-sulfate sulfatase deficiency",
          "galactosamine-6-sulfatase deficiency",
          "mucopolysaccharidosis type 4A",
          "mucopolysaccharidosis type IVA",
          "MPS 4A",
          "MPS IVA",
          "mucopolysaccharidosis, type 4A",
          "mucopolysaccharidosis, type IVA"
        ],
        "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 galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009659"
    },
    {
      "id": 10874,
      "label": "mucopolysaccharidosis type 4B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18860,
        24806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111392",
          "GARD:0003786",
          "ICD10CM:E76.211",
          "MEDGEN:43376",
          "NANDO:1200107",
          "NANDO:2201179",
          "NCIT:C84902",
          "OMIM:253010",
          "Orphanet:309310",
          "SCTID:238044004",
          "UMLS:C0086652",
          "icd11.foundation:1479415032"
        ],
        "synonyms": [
          "Beta-D-galactosidase deficiency",
          "MPS 4B",
          "MPS IV B",
          "MPS4B",
          "MPSIVB",
          "Morquio disease type B",
          "Morquio syndrome B",
          "mucopolysaccharidosis type IVB",
          "MPS IVB",
          "mucopolysaccharidosis, type 4B",
          "mucopolysaccharidosis, type IVB"
        ],
        "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 beta galactosidase. It is characterized by skeletal dysplasia and short stature."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009660"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19111,
      "label": "mucopolysaccharidosis"
    }
  ]
}