{
  "id": 9765,
  "label": "spondyloepimetaphyseal dysplasia, Maroteaux type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008473",
  "properties": {
    "xrefs": [
      "DOID:0111553",
      "GARD:0000994",
      "MEDGEN:463613",
      "OMIM:184095",
      "Orphanet:263482",
      "SCTID:719204007",
      "UMLS:C3159322"
    ],
    "synonyms": [
      "SED, Maroteaux type",
      "pseudo-Morquio syndrome type 2",
      "spondyloepimetaphyseal dysplasia, Maroteaux type",
      "spondyloepiphyseal dysplasia Maroteaux type",
      "spondyloepiphyseal dysplasia, Maroteaux type",
      "brachyolmia Maroteaux type",
      "pseudo-Morquio syndrome, type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080027",
          "GARD:0026258",
          "MEDGEN:609408",
          "SCTID:254062008",
          "UMLS:C0432211"
        ],
        "synonyms": [
          "SEMD",
          "spondylo-epi-(meta)-physeal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis."
      },
      "child_count": 23,
      "reference_id": "MONDO:0100510"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18364,
      "label": "TRPV4-related bone disorder"
    },
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia"
    }
  ]
}