{
  "id": 15345,
  "label": "Desbuquois dysplasia 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014343",
  "properties": {
    "xrefs": [
      "GARD:0016466",
      "MEDGEN:862731",
      "OMIM:615777",
      "UMLS:C4014294"
    ],
    "synonyms": [
      "Baratela-Scott syndrome",
      "Desbuquois dysplasia 2",
      "Desbuquois dysplasia caused by mutation in XYLT1",
      "Desbuquois dysplasia type 2",
      "XYLT1 Desbuquois dysplasia",
      "DBQD2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16272,
      "label": "Desbuquois dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060462",
          "GARD:0001818",
          "ICD9:756.9",
          "MEDGEN:98479",
          "NCIT:C124056",
          "OMIMPS:251450",
          "Orphanet:1425",
          "SCTID:254099008",
          "UMLS:C0432242"
        ],
        "synonyms": [
          "DBQD",
          "Desbuquois dysplasia",
          "desbuquois syndrome",
          "micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015426"
    },
    {
      "id": 29253,
      "label": "linkeropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7171,
        21247
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region."
      },
      "child_count": 9,
      "reference_id": "MONDO:1040022"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16272,
      "label": "Desbuquois dysplasia"
    },
    {
      "id": 29253,
      "label": "linkeropathy"
    }
  ]
}