{
  "id": 10874,
  "label": "mucopolysaccharidosis type 4B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009660",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18860,
      "label": "mucopolysaccharidosis type 4",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19111
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0018938"
    },
    {
      "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": 18860,
      "label": "mucopolysaccharidosis type 4"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}