{
  "id": 9312,
  "label": "metatropic dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007986",
  "properties": {
    "xrefs": [
      "DOID:0111514",
      "GARD:0003571",
      "MEDGEN:82699",
      "MESH:C537356",
      "NCIT:C175209",
      "NORD:1445",
      "OMIM:156530",
      "Orphanet:2635",
      "SCTID:22764001",
      "UMLS:C0265281"
    ],
    "synonyms": [
      "Metatropic Dysplasia I",
      "Metatropic dwarfism",
      "metatropic dysplasia",
      "Metatropic dysplasia, nonlethal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    },
    {
      "id": 18364,
      "label": "TRPV4-related bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021577",
          "MEDGEN:1842686",
          "NANDO:2201021",
          "Orphanet:364820",
          "UMLS:C5680977"
        ],
        "synonyms": [
          "TRPV4-related skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0018240"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    },
    {
      "id": 18364,
      "label": "TRPV4-related bone disorder"
    }
  ]
}