{
  "id": 14259,
  "label": "autosomal recessive spondylometaphyseal dysplasia, Megarbane type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013223",
  "properties": {
    "xrefs": [
      "DOID:0112304",
      "GARD:0017667",
      "MEDGEN:413221",
      "MESH:C567644",
      "OMIM:613320",
      "Orphanet:401979",
      "UMLS:C2750075"
    ],
    "synonyms": [
      "PAM16 spondylodysplastic dysplasia",
      "spondylodysplastic dysplasia caused by mutation in PAM16",
      "spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type",
      "SMDMDM",
      "autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",
      "chondrodysplasia, Megarbane-Dagher-Melki type",
      "spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17208,
      "label": "spondylometaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112295",
          "GARD:0018685",
          "MEDGEN:1674850",
          "OMIMPS:184255",
          "Orphanet:254",
          "UMLS:C4759767",
          "icd11.foundation:181781948"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life."
      },
      "child_count": 19,
      "reference_id": "MONDO:0016763"
    },
    {
      "id": 24805,
      "label": "severe spondylodysplastic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026429"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of spondylodysplastic dysplasia that has a high degree of severity."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800080"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17208,
      "label": "spondylometaphyseal dysplasia"
    },
    {
      "id": 24805,
      "label": "severe spondylodysplastic dysplasia"
    }
  ]
}