{
  "id": 15914,
  "label": "frontometaphyseal dysplasia 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014935",
  "properties": {
    "xrefs": [
      "DOID:0111787",
      "GARD:0016199",
      "MEDGEN:934664",
      "OMIM:617137",
      "UMLS:C4310697"
    ],
    "synonyms": [
      "FMD2",
      "Frontometaphyseal dysplasia 2",
      "Frontometaphyseal dysplasia type 2",
      "MAP3K7 frontometaphyseal dysplasia",
      "frontometaphyseal dysplasia 2; FMD2",
      "frontometaphyseal dysplasia caused by mutation in MAP3K7"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16621,
      "label": "frontometaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111785",
          "GARD:0000826",
          "ICD9:759.89",
          "MEDGEN:82703",
          "MESH:C538064",
          "OMIMPS:305620",
          "Orphanet:1826",
          "SCTID:62803002",
          "UMLS:C0265293",
          "icd11.foundation:1767187670"
        ],
        "synonyms": [
          "frontometaphyseal dysplasia",
          "FMD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015942"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16621,
      "label": "frontometaphyseal dysplasia"
    }
  ]
}