{
  "id": 15794,
  "label": "spinal muscular atrophy with congenital bone fractures 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014806",
  "properties": {
    "xrefs": [
      "GARD:0004947",
      "MEDGEN:896011",
      "MESH:C564805",
      "OMIM:271225",
      "OMIM:616866",
      "UMLS:C4225177"
    ],
    "synonyms": [
      "SMABF1",
      "TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures",
      "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4",
      "spinal muscular atrophy with congenital bone fractures 1",
      "spinal muscular atrophy with congenital bone fractures type 1",
      "spinal muscular atrophy, type I, with congenital bone fractures",
      "SMA1 with congenital bone fractures",
      "spinal muscular atrophy type 1 with congenital bone fractures"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2768,
      "label": "prenatal-onset spinal muscular atrophy with congenital bone fractures",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16094,
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017882",
          "MEDGEN:1798941",
          "OMIMPS:616866",
          "Orphanet:486811",
          "UMLS:C5567518"
        ],
        "synonyms": [
          "SMABF",
          "spinal muscular atrophy with congenital bone fractures"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0000209"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2768,
      "label": "prenatal-onset spinal muscular atrophy with congenital bone fractures"
    }
  ]
}