{
  "id": 21495,
  "label": "frontometaphyseal dysplasia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024550",
  "properties": {
    "xrefs": [
      "DOID:0111786",
      "GARD:0015293",
      "MEDGEN:923943",
      "OMIM:305620",
      "UMLS:C4281559"
    ],
    "synonyms": [
      "FLNA frontometaphyseal dysplasia",
      "frontometaphyseal dysplasia 1, X-linked recessive",
      "frontometaphyseal dysplasia caused by mutation in FLNA",
      "FMD1",
      "FRONTOMETAPHYSEAL dysplasia 1",
      "Fmd"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA 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"
    }
  ]
}